Variant report

Variant	nsv883183
Chromosome Location	chr5:177019379-177030351
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1366)
CpG islands
(count:855)
Chromatin interactive
region (count:54)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1366 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr5:177026644-177027393	HepG2	liver:	n/a	n/a
2	ARID3A	chr5:177026806-177027407	K562	blood:	n/a	n/a
3	ARID3A	chr5:177019039-177019436	HepG2	liver:	n/a	n/a
4	ATF2	chr5:177026784-177027100	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF2	chr5:177018938-177019491	GM12878	blood:	n/a	n/a
6	ATF2	chr5:177026823-177027104	GM12878	blood:	n/a	n/a
7	ATF3	chr5:177026824-177027360	A549	lung:	n/a	n/a
8	ATF3	chr5:177019071-177019456	A549	lung:	n/a	chr5:177019159-177019179
9	BACH1	chr5:177019029-177019555	H1-hESC	embryonic stem cell:	n/a	n/a
10	BACH1	chr5:177025825-177026017	K562	blood:	n/a	n/a
11	BACH1	chr5:177026842-177027988	H1-hESC	embryonic stem cell:	n/a	n/a
12	BACH1	chr5:177026931-177027042	K562	blood:	n/a	n/a
13	BCL3	chr5:177026792-177027373	A549	lung:	n/a	chr5:177027266-177027275 chr5:177027042-177027055
14	BCL3	chr5:177019095-177019518	A549	lung:	n/a	chr5:177019151-177019164 chr5:177019156-177019165 chr5:177019155-177019168 chr5:177019185-177019198
15	BCL3	chr5:177026716-177027440	GM12878	blood:	n/a	chr5:177027266-177027275 chr5:177027042-177027055
16	BCLAF1	chr5:177026638-177027745	GM12878	blood:	n/a	chr5:177027266-177027275 chr5:177027450-177027459 chr5:177027042-177027055
17	BCLAF1	chr5:177026702-177027478	GM12878	blood:	n/a	chr5:177027266-177027275 chr5:177027450-177027459 chr5:177027042-177027055
18	BCLAF1	chr5:177018861-177019568	GM12878	blood:	n/a	chr5:177019151-177019164 chr5:177019156-177019165 chr5:177019155-177019168 chr5:177019185-177019198
19	BCLAF1	chr5:177026839-177027305	K562	blood:	n/a	chr5:177027266-177027275 chr5:177027042-177027055
20	BCLAF1	chr5:177026740-177027386	K562	blood:	n/a	chr5:177027266-177027275 chr5:177027042-177027055
21	BHLHE40	chr5:177026664-177027424	K562	blood:	n/a	n/a
22	BHLHE40	chr5:177018943-177019662	HepG2	liver:	n/a	chr5:177019177-177019193 chr5:177019180-177019196
23	BHLHE40	chr5:177018850-177019869	K562	blood:	n/a	chr5:177019177-177019193 chr5:177019180-177019196
24	BHLHE40	chr5:177019232-177019557	A549	lung:	n/a	n/a
25	BHLHE40	chr5:177026769-177027557	HepG2	liver:	n/a	n/a
26	BHLHE40	chr5:177026691-177027878	GM12878	blood:	n/a	n/a
27	BHLHE40	chr5:177018820-177019853	GM12878	blood:	n/a	chr5:177019177-177019193 chr5:177019180-177019196
28	BRCA1	chr5:177026925-177027385	GM12878	blood:	n/a	n/a
29	BRCA1	chr5:177019019-177019470	GM12878	blood:	n/a	n/a
30	BRCA1	chr5:177026817-177027277	H1-hESC	embryonic stem cell:	n/a	n/a
31	BRCA1	chr5:177026884-177027377	HepG2	liver:	n/a	n/a
32	BRCA1	chr5:177026899-177027424	Hela-S3	cervix:	n/a	n/a
33	CBX3	chr5:177026785-177027115	K562	blood:	n/a	n/a
34	CBX3	chr5:177026552-177027206	K562	blood:	n/a	n/a
35	CCNT2	chr5:177026673-177027430	K562	blood:	n/a	n/a
36	CCNT2	chr5:177023176-177023445	K562	blood:	n/a	n/a
37	CCNT2	chr5:177019002-177019666	K562	blood:	n/a	n/a
38	CEBPB	chr5:177023890-177024218	IMR90	lung:	n/a	chr5:177024068-177024081 chr5:177024069-177024080
39	CEBPB	chr5:177023827-177024210	A549	lung:	n/a	chr5:177024068-177024081 chr5:177024069-177024080
40	CEBPB	chr5:177019001-177019429	Hela-S3	cervix:	n/a	n/a
41	CEBPB	chr5:177023906-177024235	HepG2	liver:	n/a	chr5:177024068-177024081 chr5:177024069-177024080
42	CEBPB	chr5:177026955-177027082	HepG2	liver:	n/a	n/a
43	CEBPB	chr5:177026889-177027153	H1-hESC	embryonic stem cell:	n/a	n/a
44	CEBPB	chr5:177023896-177024236	K562	blood:	n/a	chr5:177024068-177024081 chr5:177024069-177024080
45	CEBPB	chr5:177023895-177024217	Hela-S3	cervix:	n/a	chr5:177024068-177024081 chr5:177024069-177024080
46	CEBPB	chr5:177026794-177027407	Hela-S3	cervix:	n/a	n/a
47	CEBPD	chr5:177026849-177027279	HepG2	liver:	n/a	n/a
48	CEBPD	chr5:177026826-177027422	HepG2	liver:	n/a	n/a
49	CEBPD	chr5:177018987-177019438	HepG2	liver:	n/a	n/a
50	CEBPZ	chr5:177025793-177026307	HepG2	liver:	n/a	n/a

(count:855 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:177019608-177019658	GM19239	blood:	n/a
2	chr5:177019608-177019658	GM19239	blood:	n/a
3	chr5:177026865-177026915	SK-N-SH	brain:	n/a
4	chr5:177027589-177027639	U87	brain:	n/a
5	chr5:177026869-177026919	MCF-7	breast:	n/a
6	chr5:177020109-177020159	MCF10A-Er-Src	breast:	n/a
7	chr5:177029444-177029494	HCF	heart:	n/a
8	chr5:177026869-177026919	Jurkat	blood:	n/a
9	chr5:177026993-177027043	GM19239	blood:	n/a
10	chr5:177026869-177026919	SK-N-SH_RA	brain:	n/a
11	chr5:177027141-177027191	HCM	heart:	n/a
12	chr5:177023689-177023739	HCM	heart:	n/a
13	chr5:177027418-177027468	HCF	heart:	n/a
14	chr5:177026869-177026919	AG09309	skin:	n/a
15	chr5:177029444-177029494	MCF-7	breast:	n/a
16	chr5:177027418-177027468	HRE	kidney:	n/a
17	chr5:177019608-177019658	GM12891	blood:	n/a
18	chr5:177027175-177027225	ECC-1	luminal epithelium:	n/a
19	chr5:177027175-177027225	Jurkat	blood:	n/a
20	chr5:177027418-177027468	AG04449	skin:	fetal
21	chr5:177020109-177020159	HCM	heart:	n/a
22	chr5:177026954-177027004	NHDF-neo	bronchial:	n/a
23	chr5:177029444-177029494	NH-A	brain:	n/a
24	chr5:177027141-177027191	A549	lung:	n/a
25	chr5:177019608-177019658	HRPEpiC	eye:	n/a
26	chr5:177027418-177027468	HCT-116	colon:	n/a
27	chr5:177026865-177026915	MCF-7	breast:	n/a
28	chr5:177027175-177027225	PANC-1	pancreas:	n/a
29	chr5:177027589-177027639	NHBE	bronchial:	n/a
30	chr5:177027589-177027639	HMEC	breast:	n/a
31	chr5:177027589-177027639	BE2_C	brain:	n/a
32	chr5:177020109-177020159	HUVEC	blood vessel:	n/a
33	chr5:177026993-177027043	HCPEpiC	choroid plexus:	n/a
34	chr5:177019608-177019658	ovcar-3	ovarian:	n/a
35	chr5:177022360-177022410	MCF-7	breast:	n/a
36	chr5:177027175-177027225	AG04450	lung:	fetal
37	chr5:177023689-177023739	BE2_C	brain:	n/a
38	chr5:177026993-177027043	HCM	heart:	n/a
39	chr5:177026190-177026240	HCT-116	colon:	n/a
40	chr5:177029444-177029494	HEEpiC	esophagus:	n/a
41	chr5:177027589-177027639	AG09319	gingival:	n/a
42	chr5:177029444-177029494	LNCaP	prostate:	n/a
43	chr5:177027589-177027639	HCF	heart:	n/a
44	chr5:177020109-177020159	HAEpiC	amniotic membrane:	n/a
45	chr5:177027418-177027468	SKMC	muscle:	n/a
46	chr5:177022360-177022410	HRE	kidney:	n/a
47	chr5:177022360-177022410	MCF10A-Er-Src	breast:	n/a
48	chr5:177022360-177022410	SK-N-SH_RA	brain:	n/a
49	chr5:177027175-177027225	HEEpiC	esophagus:	n/a
50	chr5:177027175-177027225	AoSMC	blood vessel:	n/a

(count:54 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr5:176958498..176961442-chr5:177027163..177028983,2	MCF-7	breast:
2	chr5:176978409..176982516-chr5:177021399..177024969,5	MCF-7	breast:
3	chr12:46383645..46384386-chr5:177019349..177019927,2	Hela-S3	cervix:
4	chr5:176878981..176880687-chr5:177027316..177029036,2	K562	blood:
5	chr5:176979030..176982090-chr5:177027612..177030348,3	K562	blood:
6	chr5:177018435..177020960-chr5:177539226..177540753,2	MCF-7	breast:
7	chr5:177010880..177013120-chr5:177024317..177026904,2	K562	blood:
8	chr5:176947981..176948752-chr5:177028732..177029280,2	MCF-7	breast:
9	chr5:176922985..176925564-chr5:177025681..177028407,2	MCF-7	breast:
10	chr5:176943414..176949809-chr5:177018256..177021226,8	MCF-7	breast:
11	chr5:176942293..176944420-chr5:177019101..177021147,2	MCF-7	breast:
12	chr5:176941971..176944172-chr5:177027173..177028744,2	MCF-7	breast:
13	chr12:32112363..32113149-chr5:177019226..177020019,2	NB4	blood:
14	chr5:176959784..176964247-chr5:177018558..177022874,5	MCF-7	breast:
15	chr5:177008572..177010603-chr5:177022660..177024180,2	K562	blood:
16	chr5:176935179..176936864-chr5:177027186..177029298,2	K562	blood:
17	chr12:120729256..120731052-chr5:177027034..177028925,2	MCF-7	breast:
18	chr5:177026767..177027493-chr6:99963070..99963586,2	Hela-S3	cervix:
19	chr5:177025398..177027289-chr5:177540105..177542434,2	MCF-7	breast:
20	chr5:176946312..176949197-chr5:177018379..177020484,2	K562	blood:
21	chr5:176936816..176938708-chr5:177019651..177022498,2	MCF-7	breast:
22	chr5:176895756..176898053-chr5:177023963..177026358,2	K562	blood:
23	chr5:176994913..176997833-chr5:177022408..177024826,2	K562	blood:
24	chr5:176942355..176946513-chr5:177025554..177029046,7	MCF-7	breast:
25	chr5:176992384..176993998-chr5:177022547..177024754,2	K562	blood:
26	chr5:176928327..176929846-chr5:177027652..177029155,2	K562	blood:
27	chr5:176923602..176926182-chr5:177017999..177019710,2	K562	blood:
28	chr5:176942605..176945227-chr5:177026714..177029241,3	K562	blood:
29	chr5:177014696..177016221-chr5:177020591..177022587,2	K562	blood:
30	chr5:176920960..176922896-chr5:177025688..177028644,2	K562	blood:
31	chr5:176922040..176925610-chr5:177017064..177019499,4	K562	blood:
32	chr5:176980839..176983786-chr5:177025411..177027346,2	MCF-7	breast:
33	chr5:176942493..176944905-chr5:177027413..177029241,2	K562	blood:
34	chr5:176923095..176925209-chr5:177019148..177022259,3	MCF-7	breast:
35	chr1:93297145..93297889-chr5:177019241..177019876,2	HCT-116	colon:
36	chr5:177025539..177028252-chr5:177630597..177632555,2	K562	blood:
37	chr5:176939485..176941829-chr5:177017923..177020658,4	MCF-7	breast:
38	chr5:177017384..177019488-chr5:177631001..177633000,2	MCF-7	breast:
39	chr5:176918624..176922037-chr5:177026653..177029036,4	MCF-7	breast:
40	chr5:176979154..176982725-chr5:177026070..177029438,5	MCF-7	breast:
41	chr5:176923252..176925841-chr5:177025670..177028479,3	K562	blood:
42	chr5:176923028..176926285-chr5:177025596..177029619,3	MCF-7	breast:
43	chr5:176805970..176807499-chr5:177018005..177019768,2	K562	blood:
44	chr5:176979031..176980967-chr5:177019678..177022578,2	MCF-7	breast:
45	chr5:176978290..176981747-chr5:177017313..177020640,7	MCF-7	breast:
46	chr5:176920960..176923857-chr5:177025688..177028389,2	K562	blood:
47	chr5:177019232..177020994-chr5:177656791..177659399,2	K562	blood:
48	chr5:176951222..176953772-chr5:177019144..177020770,2	MCF-7	breast:
49	chr5:177028879..177031069-chr5:177037476..177041584,3	MCF-7	breast:
50	chr5:176980899..176984291-chr5:177021976..177024031,3	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM193B-2	chr5:177022262-177022680	NONHSAT105441
2	lnc-FAM193B-2	chr5:177023892-177023910	NONHSAT105441

No data

Variant related genes	Relation type
B4GALT7	TF binding region
TMED9	TF binding region
B4GALT7	CpG island
TMED9	CpG island
ENSG00000131187	chromatin interactions
ENSG00000146067	chromatin interactions
ENSG00000196923	chromatin interactions
ENSG00000197451	chromatin interactions
ENSG00000139218	chromatin interactions
ENSG00000146094	chromatin interactions
ENSG00000198055	chromatin interactions
ENSG00000200795	chromatin interactions
ENSG00000122406	chromatin interactions
ENSG00000145911	chromatin interactions
ENSG00000202538	chromatin interactions
ENSG00000272459	chromatin interactions
ENSG00000183258	chromatin interactions
ENSG00000123552	chromatin interactions
ENSG00000175309	chromatin interactions
ENSG00000131183	chromatin interactions
ENSG00000248996	chromatin interactions
ENSG00000174718	chromatin interactions
ENSG00000247679	chromatin interactions

Extended variants
information (count: 485 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:485 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11545866	chr5:177019379-177019380	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
2	rs369201803	chr5:177019442-177019443	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
3	rs544042714	chr5:177019478-177019479	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
4	rs552488466	chr5:177019533-177019534	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
5	rs111970893	chr5:177019540-177019541	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
6	rs529969083	chr5:177019551-177019552	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
7	rs548494178	chr5:177019572-177019573	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
8	rs200207667	chr5:177019601-177019602	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
9	rs541967582	chr5:177019615-177019616	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
10	rs377049767	chr5:177019619-177019620	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
11	rs11545867	chr5:177019624-177019625	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
12	rs200409242	chr5:177019634-177019635	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
13	rs369727658	chr5:177019653-177019654	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
14	rs375706792	chr5:177019670-177019671	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
15	rs151123816	chr5:177019685-177019686	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
16	rs528455163	chr5:177019686-177019687	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
17	rs4607363	chr5:177019688-177019689	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs571617537	chr5:177019692-177019693	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
19	rs539246431	chr5:177019693-177019694	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
20	rs557229227	chr5:177019694-177019695	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
21	rs185520551	chr5:177019760-177019761	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
22	rs536585440	chr5:177019772-177019773	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
23	rs554838051	chr5:177019773-177019774	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
24	rs572531572	chr5:177019812-177019813	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
25	rs73337753	chr5:177019830-177019831	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs375412291	chr5:177019926-177019927	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
27	rs112167005	chr5:177019993-177019994	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
28	rs558633472	chr5:177019994-177019995	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
29	rs188715155	chr5:177020004-177020005	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
30	rs34582406	chr5:177020032-177020033	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs113601610	chr5:177020077-177020078	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
32	rs542511331	chr5:177020092-177020093	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
33	rs373024616	chr5:177020103-177020104	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
34	rs560462048	chr5:177020108-177020109	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
35	rs375954371	chr5:177020154-177020155	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
36	rs28642698	chr5:177020155-177020156	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
37	rs551585263	chr5:177020157-177020158	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
38	rs549426778	chr5:177020176-177020177	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
39	rs56909658	chr5:177020177-177020178	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
40	rs528503476	chr5:177020262-177020263	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
41	rs185403370	chr5:177020283-177020284	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
42	rs115229918	chr5:177020299-177020300	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
43	rs191157958	chr5:177020394-177020395	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
44	rs4490602	chr5:177020401-177020402	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
45	rs372561723	chr5:177020419-177020420	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
46	rs28674912	chr5:177020447-177020448	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
47	rs550648886	chr5:177020449-177020450	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
48	rs144584938	chr5:177020457-177020458	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
49	rs138516809	chr5:177020461-177020462	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
50	rs183823224	chr5:177020482-177020483	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:103)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Thyroid cancer	19087340	CNVD
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Renal cell carcinoma	19377443	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18592004	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Prostate cancer	18632612	CNVD
epilepsy	18472482	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Sotos syndrome	21572526	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Sotos syndrome	17561922	CNVD
Sotos syndrome	16773131	CNVD
Mental retardation	16773131	CNVD
Sotos syndrome	22470819	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Acute myeloid leukemia	18000384	CNVD
Sudden cardiac death	19188705	CNVD
Basal cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Lung cancer	17297452	CNVD
Cancer	20164920	CNVD
Autism	20841430	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Sotos syndrome	22283845	CNVD
Breast cancer	16272173	CNVD
Sotos syndrome	20503325	CNVD
Lung adenocarcinoma	17086460	CNVD
Congenital Hypertrichosis Syndrome	21636067	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	19181860	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ehlers-danlos syndrome	17576883	CNVD
Lung cancer	17086460	CNVD
Autism	19246517	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Ependymoma	20639864	CNVD
Non-syndromic sensorineural hearing loss	19212409	CNVD

Chromatin state (count:1310 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:177018600-177019600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr5:177018600-177019600	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
3	chr5:177018600-177019600	Active TSS	Brain Angular Gyrus	brain
4	chr5:177018600-177019600	Active TSS	Monocytes-CD14+_RO01746	blood
5	chr5:177018600-177019800	Active TSS	Primary T helper cells PMA-I stimulated	--
6	chr5:177018600-177019800	Active TSS	Brain Anterior Caudate	brain
7	chr5:177018600-177019800	Active TSS	Brain Hippocampus Middle	brain
8	chr5:177018600-177019800	Active TSS	Brain Inferior Temporal Lobe	brain
9	chr5:177018600-177019800	Active TSS	Brain Substantia Nigra	brain
10	chr5:177018600-177019800	Active TSS	Duodenum Mucosa	Duodenum
11	chr5:177018600-177019800	Active TSS	Fetal Kidney	kidney
12	chr5:177018600-177019800	Active TSS	Stomach Smooth Muscle	stomach
13	chr5:177018600-177020000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr5:177018600-177020000	Active TSS	Fetal Lung	lung
15	chr5:177018600-177020200	Active TSS	HUES48 Cell Line	embryonic stem cell
16	chr5:177018600-177020200	Active TSS	iPS-15b Cell Line	embryonic stem cell
17	chr5:177018600-177020200	Active TSS	iPS-18 Cell Line	embryonic stem cell
18	chr5:177018600-177020200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr5:177018600-177020200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr5:177018600-177020200	Active TSS	Skeletal Muscle Female	skeletal muscle
21	chr5:177018600-177020400	Active TSS	HUES64 Cell Line	embryonic stem cell
22	chr5:177018600-177020400	Active TSS	Rectal Smooth Muscle	rectum
23	chr5:177018600-177020400	Active TSS	HSMMtube	muscle
24	chr5:177018600-177020600	Active TSS	iPS-20b Cell Line	embryonic stem cell
25	chr5:177018800-177019400	Active TSS	Fetal Brain Female	brain
26	chr5:177018800-177019600	Active TSS	Primary T cells from cord blood	blood
27	chr5:177018800-177019600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr5:177018800-177019600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr5:177018800-177019600	Active TSS	Fetal Brain Male	brain
30	chr5:177018800-177019600	Active TSS	Fetal Muscle Trunk	muscle
31	chr5:177018800-177019800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr5:177018800-177019800	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr5:177018800-177019800	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr5:177018800-177019800	Active TSS	Rectal Mucosa Donor 31	rectum
35	chr5:177018800-177020000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
36	chr5:177018800-177020000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr5:177018800-177020000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr5:177018800-177020000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr5:177018800-177020000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr5:177018800-177020000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr5:177018800-177020000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
42	chr5:177018800-177020000	Active TSS	Brain Cingulate Gyrus	brain
43	chr5:177018800-177020000	Active TSS	Colonic Mucosa	Colon
44	chr5:177018800-177020000	Active TSS	Placenta	Placenta
45	chr5:177018800-177020000	Active TSS	Lung	lung
46	chr5:177018800-177020000	Active TSS	Ovary	ovary
47	chr5:177018800-177020000	Active TSS	Psoas Muscle	Psoas
48	chr5:177018800-177020000	Active TSS	Sigmoid Colon	Sigmoid Colon
49	chr5:177018800-177020200	Active TSS	ES-I3 Cell Line	embryonic stem cell
50	chr5:177018800-177020200	Active TSS	H1 Cell Line	embryonic stem cell

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