Variant report

Variant	nsv549545
Chromosome Location	chr1:246936353-246963019
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:309)
CpG islands
(count:1710)
Chromatin interactive
region (count:31)
LncRNA
region (count:30)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:309 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr1:246952177-246952496	H1-hESC	embryonic stem cell:	n/a	n/a
2	BCL3	chr1:246961509-246961834	GM12878	blood:	n/a	n/a
3	BCLAF1	chr1:246936225-246936868	GM12878	blood:	n/a	n/a
4	BHLHE40	chr1:246958086-246958377	K562	blood:	n/a	n/a
5	BHLHE40	chr1:246961064-246961178	K562	blood:	n/a	n/a
6	BRCA1	chr1:246948780-246948917	GM12878	blood:	n/a	n/a
7	CBX3	chr1:246960849-246961178	K562	blood:	n/a	n/a
8	CBX3	chr1:246945245-246946092	K562	blood:	n/a	n/a
9	CEBPB	chr1:246945459-246945696	HepG2	liver:	n/a	n/a
10	CEBPB	chr1:246958868-246958981	H1-hESC	embryonic stem cell:	n/a	n/a
11	CEBPB	chr1:246945440-246945711	IMR90	lung:	n/a	n/a
12	CHD1	chr1:246936262-246936438	GM12878	blood:	n/a	n/a
13	CHD2	chr1:246958101-246958430	Hela-S3	cervix:	n/a	n/a
14	CHD2	chr1:246951297-246951689	HepG2	liver:	n/a	chr1:246951311-246951321
15	CHD2	chr1:246953803-246953918	HepG2	liver:	n/a	n/a
16	CHD2	chr1:246948608-246948795	HepG2	liver:	n/a	n/a
17	CHD2	chr1:246952470-246952539	HepG2	liver:	n/a	n/a
18	CREB1	chr1:246936369-246936938	GM12878	blood:	n/a	n/a
19	CTCF	chr1:246945980-246946130	HCPEpiC	choroid plexus:	n/a	n/a
20	CTCF	chr1:246945860-246946010	HPF	lung:	n/a	n/a
21	CTCF	chr1:246945920-246946070	AG04450	lung:	n/a	n/a
22	CTCF	chr1:246945960-246946110	HBMEC	blood vessel:	n/a	n/a
23	CTCF	chr1:246939142-246939260	LNCaP	prostate:	n/a	n/a
24	CTCF	chr1:246939152-246939267	MCF-7	breast:	n/a	n/a
25	CTCF	chr1:246939163-246939240	LNCaP	prostate:	n/a	n/a
26	CTCF	chr1:246954246-246954271	NHEK	skin:	n/a	n/a
27	CTCF	chr1:246945920-246946070	GM12868	blood:	n/a	n/a
28	CTCF	chr1:246945860-246946010	HPAF	blood vessel:	n/a	n/a
29	CTCF	chr1:246948520-246948670	AoAF	blood vessel:	n/a	n/a
30	CTCF	chr1:246946060-246946210	HPAF	blood vessel:	n/a	n/a
31	CTCF	chr1:246946080-246946230	AG04450	lung:	n/a	n/a
32	CTCF	chr1:246948160-246948310	HUVEC	blood vessel:	n/a	n/a
33	CTCF	chr1:246954272-246954278	NHEK	skin:	n/a	n/a
34	CTCF	chr1:246948260-246948410	HUVEC	blood vessel:	n/a	chr1:246948379-246948392 chr1:246948379-246948388
35	CTCF	chr1:246949208-246949231	GM19239	blood:	n/a	n/a
36	CTCF	chr1:246948880-246949030	GM12870	blood:	n/a	n/a
37	CTCF	chr1:246949027-246949087	GM13977	blood:	n/a	n/a
38	CTCF	chr1:246948300-246948450	GM12871	blood:	n/a	chr1:246948379-246948392 chr1:246948379-246948388
39	CTCF	chr1:246948020-246948170	GM12874	blood:	n/a	n/a
40	CTCF	chr1:246946060-246946210	HMF	breast:	n/a	n/a
41	CTCF	chr1:246948918-246949193	GM19239	blood:	n/a	n/a
42	CTCF	chr1:246948080-246948230	GM12865	blood:	n/a	n/a
43	CTCF	chr1:246948900-246949050	NHLF	lung:	n/a	n/a
44	CTCF	chr1:246945840-246945990	HMF	breast:	n/a	n/a
45	CTCF	chr1:246949141-246949212	Spleen_OC	spleen:	n/a	n/a
46	CTCF	chr1:246949145-246949172	GM13977	blood:	n/a	n/a
47	CTCF	chr1:246945905-246945966	GM19239	blood:	n/a	n/a
48	CTCF	chr1:246939127-246939258	MCF-7	breast:	n/a	n/a
49	E2F6	chr1:246948020-246948163	K562	blood:	n/a	n/a
50	E2F6	chr1:246960880-246961087	K562	blood:	n/a	chr1:246960895-246960904

(count:1710 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:246939407-246939457	Hepatocyte	liver:	n/a
2	chr1:246952362-246952412	LNCaP	prostate:	n/a
3	chr1:246939407-246939457	Hepatocyte	liver:	n/a
4	chr1:246952362-246952412	LNCaP	prostate:	n/a
5	chr1:246952889-246952939	U87	brain:	n/a
6	chr1:246958862-246958912	HEK293	kidney:	embryo
7	chr1:246959275-246959325	SAEC	small airway:	n/a
8	chr1:246939453-246939503	HMEC	breast:	n/a
9	chr1:246952495-246952545	HUVEC	blood vessel:	n/a
10	chr1:246958957-246959007	AG10803	skin:	n/a
11	chr1:246952362-246952412	BE2_C	brain:	n/a
12	chr1:246942431-246942481	PrEC	prostate:	n/a
13	chr1:246952889-246952939	HNPCEpiC	eye:	n/a
14	chr1:246954479-246954529	H1-hESC	embryonic stem cell:	embryo
15	chr1:246939499-246939549	HPAEpiC	pulmonary alveolar:	n/a
16	chr1:246939249-246939299	AG04450	lung:	fetal
17	chr1:246952495-246952545	SK-N-MC	brain:	n/a
18	chr1:246959150-246959200	HCM	heart:	n/a
19	chr1:246959476-246959526	HAEpiC	amniotic membrane:	n/a
20	chr1:246954479-246954529	NB4	blood:	n/a
21	chr1:246952508-246952558	HCM	heart:	n/a
22	chr1:246954397-246954447	AG10803	skin:	n/a
23	chr1:246939216-246939266	H1-hESC	embryonic stem cell:	embryo
24	chr1:246952215-246952265	PFSK-1	brain:	n/a
25	chr1:246954479-246954529	A549	lung:	n/a
26	chr1:246959476-246959526	GM12891	blood:	n/a
27	chr1:246952362-246952412	Hepatocyte	liver:	n/a
28	chr1:246952215-246952265	GM12892	blood:	n/a
29	chr1:246952048-246952098	HRPEpiC	eye:	n/a
30	chr1:246952118-246952168	HRPEpiC	eye:	n/a
31	chr1:246939216-246939266	PANC-1	pancreas:	n/a
32	chr1:246948597-246948647	SAEC	small airway:	n/a
33	chr1:246942431-246942481	NH-A	brain:	n/a
34	chr1:246952914-246952964	Hepatocyte	liver:	n/a
35	chr1:246959275-246959325	NT2-D1	testis:	n/a
36	chr1:246939216-246939266	SK-N-SH	brain:	n/a
37	chr1:246959476-246959526	GM19239	blood:	n/a
38	chr1:246952495-246952545	GM12878	blood:	n/a
39	chr1:246939407-246939457	Hela-S3	cervix:	n/a
40	chr1:246939499-246939549	CMK	blood:	n/a
41	chr1:246954479-246954529	HRCEpiC	kidney:	n/a
42	chr1:246959150-246959200	HAEpiC	amniotic membrane:	n/a
43	chr1:246948597-246948647	Hela-S3	cervix:	n/a
44	chr1:246958862-246958912	ProgFib	skin:	n/a
45	chr1:246954479-246954529	HIPEpiC	eye:	n/a
46	chr1:246952914-246952964	HAEpiC	amniotic membrane:	n/a
47	chr1:246955186-246955236	GM12892	blood:	n/a
48	chr1:246939249-246939299	NHDF-neo	bronchial:	n/a
49	chr1:246952508-246952558	ProgFib	skin:	n/a
50	chr1:246943745-246943795	U87	brain:	n/a

(count:31 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:246935414..246937125-chr1:246938877..246940791,2	K562	blood:
2	chr1:246940112..246942102-chr1:247093044..247095026,2	K562	blood:
3	chr1:246951802..246955947-chr1:246959836..246963718,4	K562	blood:
4	chr1:246959981..246962716-chr1:246996728..246998857,2	K562	blood:
5	chr1:246934177..246937192-chr1:246941017..246944440,4	K562	blood:
6	chr1:246933982..246937125-chr1:246938877..246940973,4	K562	blood:
7	chr1:246947863..246950737-chr1:246955534..246958026,3	K562	blood:
8	chr1:246935414..246937125-chr1:246938877..246940791,2	K562	blood:
9	chr1:246960568..246961069-chr15:101792577..101793077,2	Hela-S3	cervix:
10	chr1:246941244..246944008-chr1:246946969..246949951,3	MCF-7	breast:
11	chr1:246941244..246944008-chr1:246946969..246949951,3	MCF-7	breast:
12	chr1:246951802..246955219-chr1:246959555..246964384,5	K562	blood:
13	chr1:246933982..246937125-chr1:246938877..246940973,4	K562	blood:
14	chr1:246939030..246940776-chr1:246947263..246949787,2	MCF-7	breast:
15	chr1:246943277..246944793-chr1:246945937..246947774,2	K562	blood:
16	chr1:246947185..246952305-chr1:246952338..246955724,5	K562	blood:
17	chr1:246945490..246947572-chr1:246949447..246951570,2	K562	blood:
18	chr1:246937235..246940255-chr1:246941352..246944349,3	K562	blood:
19	chr1:246940173..246942753-chr1:246943130..246945283,2	MCF-7	breast:
20	chr1:246940232..246941968-chr1:246942195..246944093,2	K562	blood:
21	chr1:246944573..246947572-chr1:246947936..246950947,5	K562	blood:
22	chr1:246940232..246941968-chr1:246942195..246944093,2	K562	blood:
23	chr1:246942351..246945041-chr1:246952061..246954954,2	K562	blood:
24	chr1:246959485..246962350-chr1:246964445..246966193,2	K562	blood:
25	chr1:246941558..246944485-chr20:45985608..45987605,2	MCF-7	breast:
26	chr1:246951287..246953566-chr1:246953954..246955878,2	K562	blood:
27	chr1:246961516..246963761-chr1:246966339..246968259,2	K562	blood:
28	chr1:246940173..246942753-chr1:246943130..246945283,2	MCF-7	breast:
29	chr1:246929352..246931655-chr1:246940972..246943621,2	K562	blood:
30	chr1:246947863..246950737-chr1:246955534..246958026,3	K562	blood:
31	chr1:246946643..246948588-chr1:247104112..247106785,2	K562	blood:

(count:30 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SCCPDH-1	chr1:246955359-246955607	NONHSAT139944
2	lnc-SCCPDH-1	chr1:246937472-246939075	NONHSAT010724
3	lnc-SCCPDH-1	chr1:246952810-246953000	XLOC_000643
4	lnc-SCCPDH-1	chr1:246952827-246953000	XLOC_000643
5	lnc-SCCPDH-1	chr1:246955359-246955691	NONHSAT010736
6	lnc-SCCPDH-1	chr1:246953748-246954148	XLOC_000643
7	lnc-SCCPDH-1	chr1:246955359-246955689	XLOC_000643
8	lnc-SCCPDH-1	chr1:246954044-246954148	XLOC_000643
9	lnc-SCCPDH-1	chr1:246952785-246953000	NONHSAT139944
10	lnc-SCCPDH-1	chr1:246947036-246947345	XLOC_000643
11	lnc-SCCPDH-1	chr1:246953926-246954148	XLOC_000643
12	lnc-SCCPDH-1	chr1:246953748-246954148	NONHSAT010736
13	lnc-SCCPDH-1	chr1:246955359-246955843	NONHSAT010737
14	lnc-SCCPDH-1	chr1:246947183-246947345	NONHSAT010737
15	lnc-SCCPDH-1	chr1:246952694-246953000	NONHSAT010736
16	lnc-SCCPDH-1	chr1:246953748-246954148	NONHSAT010737
17	lnc-SCCPDH-1	chr1:246953748-246954788	XLOC_000643
18	lnc-SCCPDH-1	chr1:246953748-246955687	ENSG00000227953.2
19	lnc-SCCPDH-1	chr1:246955359-246955790	XLOC_000643
20	lnc-SCCPDH-1	chr1:246952810-246953000	NONHSAT010737
21	lnc-SCCPDH-1	chr1:246954044-246954488	NONHSAT010738
22	lnc-SCCPDH-1	chr1:246946701-246947345	NONHSAT010736
23	lnc-SCCPDH-1	chr1:246935607-246937461	NONHSAT010724
24	lnc-SCCPDH-1	chr1:246952919-246953000	XLOC_000643
25	lnc-SCCPDH-1	chr1:246952396-246953000	ENSG00000227953.2
26	lnc-SCCPDH-1	chr1:246947201-246947345	NONHSAT010738
27	lnc-SCCPDH-1	chr1:246935603-246939074	ENSG00000260855.1
28	lnc-SCCPDH-1	chr1:246952810-246953000	NONHSAT010738
29	lnc-SCCPDH-1	chr1:246955359-246955687	XLOC_000643
30	lnc-SCCPDH-1	chr1:246953748-246954148	NONHSAT139944

No data

Variant related genes	Relation type
KIF28P	TF binding region
ENSG00000227953	TF binding region
KIF28P	CpG island
ENSG00000227953	CpG island
ENSG00000260855	chromatin interactions
ENSG00000153207	chromatin interactions
ENSG00000227953	chromatin interactions
ENSG00000252011	chromatin interactions
ENSG00000223519	chromatin interactions
DDX3Y	miRNA target sites
C9orf5	miRNA target sites
DDX42	miRNA target sites
E2F3	miRNA target sites

Extended variants
information (count: 1250 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:1250 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10924827	chr1:246936353-246936354	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs554492283	chr1:246936354-246936355	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
3	rs148990754	chr1:246936403-246936404	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
4	rs370812700	chr1:246936449-246936450	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
5	rs375505351	chr1:246936485-246936486	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
6	rs567784739	chr1:246936504-246936505	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
7	rs533666988	chr1:246936522-246936523	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
8	rs368647891	chr1:246936541-246936542	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
9	rs115909427	chr1:246936543-246936544	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
10	rs546666354	chr1:246936580-246936581	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
11	rs371254766	chr1:246936595-246936596	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
12	rs183445102	chr1:246936652-246936653	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
13	rs4390215	chr1:246936660-246936661	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
14	rs4244626	chr1:246936665-246936666	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs185971879	chr1:246936687-246936688	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
16	rs150890757	chr1:246936735-246936736	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
17	rs554285256	chr1:246936746-246936747	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
18	rs201090001	chr1:246936778-246936779	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
19	rs139334657	chr1:246936779-246936780	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
20	rs560488342	chr1:246936807-246936808	Weak transcription Strong transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
21	rs532498111	chr1:246936836-246936837	Weak transcription Strong transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
22	rs80144096	chr1:246936846-246936847	Weak transcription Strong transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
23	rs367763227	chr1:246936884-246936885	Weak transcription Strong transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
24	rs569107246	chr1:246936964-246936965	Weak transcription Strong transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
25	rs531526345	chr1:246937039-246937040	Weak transcription Strong transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
26	rs528283174	chr1:246937049-246937050	Weak transcription Strong transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
27	rs61852513	chr1:246937091-246937092	Weak transcription Strong transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs567958149	chr1:246937136-246937137	Weak transcription Strong transcription ZNF genes & repeats Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
29	rs201784079	chr1:246937157-246937158	Weak transcription Strong transcription ZNF genes & repeats Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
30	rs533630999	chr1:246937174-246937175	Weak transcription Strong transcription ZNF genes & repeats Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
31	rs547046656	chr1:246937180-246937181	Weak transcription Strong transcription ZNF genes & repeats Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
32	rs570214691	chr1:246937184-246937185	Weak transcription Strong transcription ZNF genes & repeats Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
33	rs539390030	chr1:246937198-246937199	Weak transcription Strong transcription ZNF genes & repeats Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
34	rs190639721	chr1:246937208-246937209	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
35	rs575878115	chr1:246937228-246937229	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
36	rs538184677	chr1:246937231-246937232	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
37	rs555198022	chr1:246937257-246937258	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
38	rs529824966	chr1:246937261-246937262	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
39	rs35867502	chr1:246937275-246937276	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
40	rs575127530	chr1:246937285-246937286	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
41	rs144929507	chr1:246937342-246937343	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
42	rs7513519	chr1:246937343-246937344	Weak transcription Strong transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs577290417	chr1:246937375-246937376	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
44	rs529233600	chr1:246937458-246937459	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
45	rs7515876	chr1:246937459-246937460	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	mRNA abundance
46	rs201622110	chr1:246937461-246937462	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
47	rs67438333	chr1:246937462-246937463	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
48	rs562779953	chr1:246937514-246937515	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
49	rs375260791	chr1:246937539-246937540	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
50	rs182799805	chr1:246937540-246937541	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Liposarcoma	21253554	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Neuroblastoma	21899760	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	20729466	CNVD
Testicular germ cell tumor	18059402	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Basal cell lymphoma	17053054	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	21829676	CNVD
Multiple myeloma	16616336	CNVD
Ovarian cancer	21720365	CNVD
Glioblastoma multiforme	22291905	CNVD
Myelofibrosis	22110671	CNVD
Disease	21936942	CNVD
laryngomalacia	21936942	CNVD
GLUT3 deficiency syndrome	20509907	CNVD
Developmental delay	21373258	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Developmental delay	19490664	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Cutaneous malignant melanoma	18794153	CNVD
Astrocytoma	17934521	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Breast cancer	20409316	CNVD
Fibroblasts	17951408	CNVD
Lung cancer	17951408	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:1169 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:246888400-246946400	Weak transcription	Small Intestine	intestine
2	chr1:246888600-246945600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr1:246895000-246942200	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr1:246895400-246938600	Weak transcription	Fetal Heart	heart
5	chr1:246902800-246952800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:246904600-246942800	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr1:246905000-246945800	Weak transcription	Psoas Muscle	Psoas
8	chr1:246920800-246944200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:246921200-246943200	Strong transcription	Dnd41	blood
10	chr1:246921600-246945800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr1:246922000-246936400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr1:246922200-246937000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr1:246922200-246944600	Strong transcription	Fetal Muscle Trunk	muscle
14	chr1:246922600-246936400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
15	chr1:246923200-246945000	Strong transcription	Fetal Muscle Leg	muscle
16	chr1:246924000-246941200	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr1:246924000-246944200	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr1:246924400-246939200	Weak transcription	Colonic Mucosa	Colon
19	chr1:246924400-246945800	Weak transcription	Primary B cells from cord blood	blood
20	chr1:246925200-246952200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr1:246925400-246936600	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr1:246926400-246939200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr1:246928600-246937000	Strong transcription	Fetal Stomach	stomach
24	chr1:246928800-246944800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr1:246929200-246936800	Strong transcription	Fetal Brain Female	brain
26	chr1:246930600-246939000	Weak transcription	Thymus	Thymus
27	chr1:246931000-246936800	Strong transcription	Brain Inferior Temporal Lobe	brain
28	chr1:246931200-246937800	Weak transcription	NH-A	brain
29	chr1:246931200-246940600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr1:246932000-246936600	Weak transcription	Aorta	Aorta
31	chr1:246932000-246939200	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr1:246932400-246939000	Weak transcription	Pancreas	Pancrea
33	chr1:246932400-246945800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr1:246932400-246952000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr1:246932600-246938600	Weak transcription	Brain Substantia Nigra	brain
36	chr1:246932600-246939200	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr1:246932600-246939400	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr1:246932600-246948000	Strong transcription	Liver	Liver
39	chr1:246932600-246948600	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr1:246932600-246948600	Weak transcription	Esophagus	oesophagus
41	chr1:246932800-246936600	Weak transcription	NHEK	skin
42	chr1:246932800-246937800	Weak transcription	Brain Cingulate Gyrus	brain
43	chr1:246932800-246938400	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr1:246932800-246938600	Weak transcription	HUVEC	blood vessel
45	chr1:246932800-246938600	Weak transcription	Osteobl	bone
46	chr1:246932800-246939000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr1:246932800-246939200	Weak transcription	Brain Angular Gyrus	brain
48	chr1:246932800-246939200	Weak transcription	Gastric	stomach
49	chr1:246932800-246939200	Weak transcription	Spleen	Spleen
50	chr1:246932800-246939400	Weak transcription	Sigmoid Colon	Sigmoid Colon

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