Variant report

Variant	nsv550814
Chromosome Location	chr10:49705142-49735563
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1227)
CpG islands
(count:918)
Chromatin interactive
region (count:103)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1227 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr10:49713702-49713754	K562	blood:	n/a	n/a
2	ARID3A	chr10:49714573-49714848	HepG2	liver:	n/a	n/a
3	ARID3A	chr10:49714503-49714913	K562	blood:	n/a	n/a
4	ARID3A	chr10:49732473-49732510	K562	blood:	n/a	n/a
5	ARID3A	chr10:49715145-49715390	HepG2	liver:	n/a	n/a
6	ATF3	chr10:49731160-49731399	K562	blood:	n/a	n/a
7	BACH1	chr10:49714441-49714585	K562	blood:	n/a	n/a
8	BACH1	chr10:49732288-49732597	H1-hESC	embryonic stem cell:	n/a	n/a
9	BACH1	chr10:49716040-49716159	H1-hESC	embryonic stem cell:	n/a	n/a
10	BACH1	chr10:49731254-49732056	H1-hESC	embryonic stem cell:	n/a	n/a
11	BHLHE40	chr10:49714483-49715086	K562	blood:	n/a	n/a
12	BHLHE40	chr10:49731901-49732129	HepG2	liver:	n/a	n/a
13	BHLHE40	chr10:49716230-49716334	K562	blood:	n/a	n/a
14	BHLHE40	chr10:49726095-49726324	GM12878	blood:	n/a	n/a
15	BHLHE40	chr10:49713518-49714275	K562	blood:	n/a	chr10:49714139-49714155
16	BHLHE40	chr10:49731989-49732177	GM12878	blood:	n/a	n/a
17	BHLHE40	chr10:49712840-49712973	K562	blood:	n/a	n/a
18	BHLHE40	chr10:49731803-49732672	K562	blood:	n/a	chr10:49732501-49732517
19	BHLHE40	chr10:49732047-49732051	A549	lung:	n/a	n/a
20	BRCA1	chr10:49714693-49714870	HepG2	liver:	n/a	n/a
21	CBX3	chr10:49721057-49721457	K562	blood:	n/a	n/a
22	CBX3	chr10:49714372-49714934	K562	blood:	n/a	n/a
23	CBX3	chr10:49722290-49722710	K562	blood:	n/a	n/a
24	CBX3	chr10:49732307-49732713	K562	blood:	n/a	n/a
25	CCNT2	chr10:49731218-49732631	K562	blood:	n/a	chr10:49731855-49731864 chr10:49732561-49732570 chr10:49731457-49731466
26	CEBPB	chr10:49725061-49725366	K562	blood:	n/a	n/a
27	CEBPB	chr10:49714099-49714825	K562	blood:	n/a	chr10:49714274-49714285
28	CEBPB	chr10:49714150-49714461	HepG2	liver:	n/a	chr10:49714274-49714285
29	CEBPB	chr10:49728614-49728648	K562	blood:	n/a	n/a
30	CHD2	chr10:49732389-49732581	H1-hESC	embryonic stem cell:	n/a	n/a
31	CHD2	chr10:49714633-49714854	K562	blood:	n/a	n/a
32	CHD2	chr10:49712908-49713023	K562	blood:	n/a	n/a
33	CHD2	chr10:49731511-49731788	K562	blood:	n/a	n/a
34	CHD2	chr10:49732396-49732714	K562	blood:	n/a	n/a
35	CREB1	chr10:49732303-49732701	A549	lung:	n/a	n/a
36	CTBP2	chr10:49731252-49732721	H1-hESC	embryonic stem cell:	n/a	n/a
37	CTCF	chr10:49718120-49718270	GM12870	blood:	n/a	n/a
38	CTCF	chr10:49714740-49714890	HRE	kidney:	n/a	chr10:49714772-49714790 chr10:49714767-49714788 chr10:49714774-49714787 chr10:49714773-49714789
39	CTCF	chr10:49731600-49731750	SK-N-SH_RA	brain:	n/a	n/a
40	CTCF	chr10:49714619-49714893	GM19239	blood:	n/a	chr10:49714691-49714701 chr10:49714772-49714790 chr10:49714689-49714702 chr10:49714767-49714788 chr10:49714774-49714787 chr10:49714773-49714789
41	CTCF	chr10:49732365-49732660	K562	blood:	n/a	chr10:49732505-49732521 chr10:49732507-49732516 chr10:49732507-49732520 chr10:49732509-49732519 chr10:49732504-49732522 chr10:49732507-49732520
42	CTCF	chr10:49718120-49718270	MCF-7	breast:	n/a	n/a
43	CTCF	chr10:49718100-49718250	GM12867	blood:	n/a	n/a
44	CTCF	chr10:49714514-49714937	HepG2	liver:	n/a	chr10:49714691-49714701 chr10:49714772-49714790 chr10:49714689-49714702 chr10:49714767-49714788 chr10:49714774-49714787 chr10:49714773-49714789
45	CTCF	chr10:49718060-49718210	HA-sp	spinal cord:	n/a	n/a
46	CTCF	chr10:49714614-49714906	A549	lung:	n/a	chr10:49714691-49714701 chr10:49714772-49714790 chr10:49714689-49714702 chr10:49714767-49714788 chr10:49714774-49714787 chr10:49714773-49714789
47	CTCF	chr10:49714611-49714903	GM12892	blood:	n/a	chr10:49714691-49714701 chr10:49714772-49714790 chr10:49714689-49714702 chr10:49714767-49714788 chr10:49714774-49714787 chr10:49714773-49714789
48	CTCF	chr10:49732800-49732950	SAEC	small airway:	n/a	n/a
49	CTCF	chr10:49713580-49713730	WERI-Rb-1	eye:	n/a	n/a
50	CTCF	chr10:49731300-49731450	SK-N-SH_RA	brain:	n/a	n/a

(count:918 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:49731678-49731728	SK-N-SH	brain:	n/a
2	chr10:49732637-49732687	HL-60	blood:	n/a
3	chr10:49731678-49731728	Caco-2	colon:	n/a
4	chr10:49731678-49731728	SK-N-SH	brain:	n/a
5	chr10:49732637-49732687	HL-60	blood:	n/a
6	chr10:49731678-49731728	Caco-2	colon:	n/a
7	chr10:49733339-49733389	SK-N-SH_RA	brain:	n/a
8	chr10:49732315-49732365	SKMC	muscle:	n/a
9	chr10:49730753-49730803	NHDF-neo	bronchial:	n/a
10	chr10:49730753-49730803	Hela-S3	cervix:	n/a
11	chr10:49733339-49733389	NH-A	brain:	n/a
12	chr10:49716328-49716378	HRE	kidney:	n/a
13	chr10:49734874-49734924	HRPEpiC	eye:	n/a
14	chr10:49730753-49730803	AG09309	skin:	n/a
15	chr10:49732419-49732469	Jurkat	blood:	n/a
16	chr10:49730753-49730803	HNPCEpiC	eye:	n/a
17	chr10:49732419-49732469	T-47D	breast:	n/a
18	chr10:49733339-49733389	HMEC	breast:	n/a
19	chr10:49732419-49732469	U87	brain:	n/a
20	chr10:49731678-49731728	NHBE	bronchial:	n/a
21	chr10:49710976-49711026	NH-A	brain:	n/a
22	chr10:49716328-49716378	NB4	blood:	n/a
23	chr10:49705591-49705641	HRE	kidney:	n/a
24	chr10:49731375-49731425	U87	brain:	n/a
25	chr10:49732419-49732469	HCPEpiC	choroid plexus:	n/a
26	chr10:49732419-49732469	PFSK-1	brain:	n/a
27	chr10:49732315-49732365	HRPEpiC	eye:	n/a
28	chr10:49731375-49731425	Hepatocyte	liver:	n/a
29	chr10:49732637-49732687	SK-N-MC	brain:	n/a
30	chr10:49705591-49705641	HCM	heart:	n/a
31	chr10:49731678-49731728	HCT-116	colon:	n/a
32	chr10:49731965-49732015	HCPEpiC	choroid plexus:	n/a
33	chr10:49731678-49731728	AG10803	skin:	n/a
34	chr10:49732419-49732469	RPTEC	kidney:	n/a
35	chr10:49730753-49730803	ProgFib	skin:	n/a
36	chr10:49710976-49711026	SK-N-SH	brain:	n/a
37	chr10:49705591-49705641	T-47D	breast:	n/a
38	chr10:49728916-49728966	PrEC	prostate:	n/a
39	chr10:49732419-49732469	ProgFib	skin:	n/a
40	chr10:49731563-49731613	RPTEC	kidney:	n/a
41	chr10:49716328-49716378	HEEpiC	esophagus:	n/a
42	chr10:49734874-49734924	A549	lung:	n/a
43	chr10:49731563-49731613	NHBE	bronchial:	n/a
44	chr10:49732003-49732053	GM06990	blood:	n/a
45	chr10:49731563-49731613	HEEpiC	esophagus:	n/a
46	chr10:49730753-49730803	SK-N-MC	brain:	n/a
47	chr10:49728916-49728966	PANC-1	pancreas:	n/a
48	chr10:49705591-49705641	MCF10A-Er-Src	breast:	n/a
49	chr10:49732315-49732365	SK-N-MC	brain:	n/a
50	chr10:49732315-49732365	SK-N-SH_RA	brain:	n/a

(count:103 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr10:49658339..49659956-chr10:49712653..49715066,2	MCF-7	breast:
2	chr10:49712691..49716238-chr10:49728195..49733174,5	K562	blood:
3	chr10:49655464..49657774-chr10:49727812..49730499,2	K562	blood:
4	chr10:49715021..49718761-chr10:49720982..49725227,3	K562	blood:
5	chr10:49728278..49730506-chr10:49735038..49737361,2	K562	blood:
6	chr10:49423270..49424166-chr10:49714289..49715192,4	K562	blood:
7	chr10:49711695..49713826-chr10:49717716..49719906,2	K562	blood:
8	chr10:49663675..49666041-chr10:49714852..49717938,4	K562	blood:
9	chr10:49715470..49718862-chr10:49725582..49728629,3	K562	blood:
10	chr10:49698265..49700401-chr10:49714707..49717015,2	K562	blood:
11	chr10:49715021..49718761-chr10:49720982..49725227,3	K562	blood:
12	chr10:49683409..49685423-chr10:49724678..49727528,2	K562	blood:
13	chr10:49659900..49662821-chr10:49704182..49706648,2	K562	blood:
14	chr10:49714562..49719396-chr10:49719920..49724610,6	K562	blood:
15	chr10:49715672..49716365-chr16:70778131..70778782,2	MCF-7	breast:
16	chr10:49571889..49574086-chr10:49706276..49707792,2	K562	blood:
17	chr10:49729429..49732074-chr10:49751131..49754040,2	K562	blood:
18	chr10:49652272..49653208-chr10:49717878..49718849,3	MCF-7	breast:
19	chr10:49707073..49711100-chr10:49713490..49716250,3	K562	blood:
20	chr10:49713826..49717579-chr10:49717710..49719906,5	K562	blood:
21	chr10:49732304..49732912-chr4:153699693..153700213,2	MCF-7	breast:
22	chr10:49725693..49727830-chr10:49743883..49745489,2	K562	blood:
23	chr10:49729006..49734314-chr10:49734624..49737361,4	K562	blood:
24	chr10:49615597..49618030-chr10:49714235..49716218,3	K562	blood:
25	chr10:49703894..49706471-chr10:49715514..49717897,2	K562	blood:
26	chr10:49660046..49662024-chr10:49725429..49726985,2	K562	blood:
27	chr10:49571485..49572253-chr10:49714436..49715142,2	MCF-7	breast:
28	chr10:49517657..49518610-chr10:49713350..49714126,2	MCF-7	breast:
29	chr10:49714456..49715089-chr10:49863805..49864755,3	K562	blood:
30	chr10:49707527..49709358-chr10:49712606..49714171,2	K562	blood:
31	chr10:49707073..49711100-chr10:49713490..49716250,3	K562	blood:
32	chr10:49714746..49717330-chr10:49717821..49719600,2	MCF-7	breast:
33	chr10:49716373..49718615-chr10:49727056..49729940,2	MCF-7	breast:
34	chr10:49723375..49726156-chr10:49734098..49735696,2	K562	blood:
35	chr10:49571458..49572711-chr10:49713545..49714151,3	MCF-7	breast:
36	chr10:49714746..49717330-chr10:49717821..49719600,2	MCF-7	breast:
37	chr10:49713932..49717816-chr10:49742746..49746059,3	K562	blood:
38	chr10:49677417..49680316-chr10:49708989..49711504,2	K562	blood:
39	chr10:49653221..49653731-chr10:49714626..49715186,2	MCF-7	breast:
40	chr10:49652128..49653347-chr10:49713187..49714230,4	MCF-7	breast:
41	chr10:49700642..49703834-chr10:49704395..49707390,3	K562	blood:
42	chr10:49735319..49737955-chr10:49741189..49744071,3	K562	blood:
43	chr10:49703894..49706471-chr10:49715514..49717897,2	K562	blood:
44	chr10:49715470..49718862-chr10:49725582..49728629,3	K562	blood:
45	chr10:49637915..49640231-chr10:49714306..49716127,2	K562	blood:
46	chr10:49714827..49719872-chr10:49861427..49864767,4	K562	blood:
47	chr10:49728278..49730506-chr10:49735038..49737361,2	K562	blood:
48	chr10:49718293..49721279-chr10:50504590..50507564,3	K562	blood:
49	chr10:49731838..49732358-chr16:2014319..2015199,3	HCT-116	colon:
50	chr10:49571896..49573651-chr10:49713045..49714727,3	K562	blood:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FRMPD2-1	chr10:49718568-49718982	ENSG00000248682.1
2	lnc-FRMPD2-1	chr10:49717904-49719721	NONHSAT013273
3	lnc-FRMPD2-1	chr10:49718035-49718982	NONHSAT013274
4	lnc-FRMPD2-1	chr10:49719578-49719720	NONHSAT013274
5	lnc-FRMPD2-1	chr10:49719578-49719632	ENSG00000248682.1

No data

Variant related genes	Relation type
ARHGAP22-IT1	TF binding region
ARHGAP22	TF binding region
ARHGAP22-IT1	CpG island
ARHGAP22	CpG island
ENSG00000248682	chromatin interactions
ENSG00000177354	chromatin interactions
ENSG00000140988	chromatin interactions
ENSG00000255198	chromatin interactions
ENSG00000236208	chromatin interactions
ENSG00000107643	chromatin interactions
ENSG00000252577	chromatin interactions
ENSG00000103043	chromatin interactions
ENSG00000128805	chromatin interactions

Extended variants
information (count: 1177 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:1177 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4838607	chr10:49705142-49705143	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs935276	chr10:49705161-49705162	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs547393230	chr10:49705162-49705163	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs572051047	chr10:49705196-49705197	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs190321974	chr10:49705256-49705257	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs148614136	chr10:49705261-49705262	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs576110944	chr10:49705296-49705297	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs144151073	chr10:49705323-49705324	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs9664267	chr10:49705398-49705399	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs373648214	chr10:49705424-49705425	Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs55688849	chr10:49705425-49705426	Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs544433135	chr10:49705440-49705441	Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs147856353	chr10:49705464-49705465	Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs370495872	chr10:49705495-49705496	Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs141403738	chr10:49705543-49705544	Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs147006062	chr10:49705544-49705545	Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs560439432	chr10:49705550-49705551	Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs180727837	chr10:49705562-49705563	Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs386743487	chr10:49705563-49705564	Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs185884452	chr10:49705565-49705566	Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs191144547	chr10:49705591-49705592	Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs183872266	chr10:49705592-49705593	Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs568261531	chr10:49705607-49705608	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs189229214	chr10:49705608-49705609	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs530178339	chr10:49705610-49705611	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs190341803	chr10:49705619-49705620	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs371469550	chr10:49705621-49705622	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs549932578	chr10:49705622-49705623	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs569779384	chr10:49705632-49705633	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs9663790	chr10:49705636-49705637	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs539035183	chr10:49705652-49705653	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs557737686	chr10:49705707-49705708	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs374750667	chr10:49705739-49705740	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs182899094	chr10:49705741-49705742	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs537142046	chr10:49705760-49705761	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs558859099	chr10:49705781-49705782	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs542072520	chr10:49705783-49705784	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs76867577	chr10:49705836-49705837	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs186905682	chr10:49705842-49705843	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs574668591	chr10:49705863-49705864	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs9663505	chr10:49705958-49705959	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs9663506	chr10:49705959-49705960	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs572424653	chr10:49705972-49705973	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs545831070	chr10:49705974-49705975	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs12763969	chr10:49705989-49705990	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs191752339	chr10:49705995-49705996	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs550228124	chr10:49705996-49705997	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs562201570	chr10:49706006-49706007	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs529068179	chr10:49706031-49706032	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs547634761	chr10:49706036-49706037	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:71)

Disease	PMID	Source
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	18632612	CNVD
Autism	18414403	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
Cancer	21183584	CNVD
T-cell lymphomas	19863542	CNVD
Testicular germ cell tumor	18059402	CNVD
Squamous cell cancer	21044232	CNVD
Glioma	21971842	CNVD
Cancer	21637783	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Obesity	21956041	CNVD
Renal cell carcinoma	18765545	CNVD
Developmental delay	21948486	CNVD
Dysmorphic features	21948486	CNVD
Epilepsy	21948486	CNVD
Breast cancer	21785460	CNVD
Intellectual disability	21948486	CNVD
Schizophrenia	23813976	CNVD
Acute myeloid leukemia	19651601	CNVD
Breast cancer	20409316	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Rett syndrome	21593744	CNVD
Glioblastoma multiforme	22286061	CNVD
Neuroblastoma	21899760	CNVD
Intellectual disability	22045946	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Autism	21948486	CNVD
cleft palate	21948486	CNVD
Encephalopathy	21948486	CNVD
Lung cancer	18438408	CNVD
T-cell primary immunodeficiency	21948486	CNVD
Autism	22543975	CNVD
Breast cancer	21364760	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
skeletal anomalies	21948486	CNVD
speech delay	21948486	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:1006 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:49698000-49731200	Weak transcription	Aorta	Aorta
2	chr10:49699200-49705200	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr10:49699200-49706000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr10:49699200-49706400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr10:49699400-49705200	Weak transcription	Brain Anterior Caudate	brain
6	chr10:49700600-49706800	Enhancers	K562	blood
7	chr10:49701400-49706000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr10:49701400-49706000	Enhancers	HMEC	breast
9	chr10:49701600-49716400	Weak transcription	Right Atrium	heart
10	chr10:49702200-49705800	Weak transcription	Brain Cingulate Gyrus	brain
11	chr10:49702200-49707400	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr10:49702400-49718200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr10:49702600-49705200	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr10:49702600-49705400	Weak transcription	Brain Substantia Nigra	brain
15	chr10:49703200-49705400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr10:49703200-49706200	Genic enhancers	HSMM	muscle
17	chr10:49703200-49707000	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr10:49703400-49706000	Enhancers	Placenta	Placenta
19	chr10:49703800-49705800	Enhancers	NHEK	skin
20	chr10:49703800-49706200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr10:49703800-49706200	Genic enhancers	Muscle Satellite Cultured Cells	--
22	chr10:49703800-49706400	Enhancers	HSMMtube	muscle
23	chr10:49704000-49705400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr10:49704000-49706200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr10:49704200-49706000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr10:49704200-49706000	Enhancers	NH-A	brain
27	chr10:49704200-49706000	Enhancers	NHLF	lung
28	chr10:49704200-49707200	Enhancers	NHDF-Ad	bronchial
29	chr10:49704400-49706200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr10:49704400-49707800	Enhancers	Primary hematopoietic stem cells	blood
31	chr10:49704600-49705600	Enhancers	Esophagus	oesophagus
32	chr10:49704600-49705800	Enhancers	Placenta Amnion	Placenta Amnion
33	chr10:49704600-49706000	Enhancers	Brain Inferior Temporal Lobe	brain
34	chr10:49704600-49706000	Enhancers	Fetal Stomach	stomach
35	chr10:49704600-49706200	Enhancers	Fetal Thymus	thymus
36	chr10:49704600-49706600	Enhancers	Ovary	ovary
37	chr10:49704800-49705800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr10:49704800-49705800	Enhancers	Fetal Muscle Trunk	muscle
39	chr10:49704800-49706000	Enhancers	Fetal Muscle Leg	muscle
40	chr10:49704800-49706200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
41	chr10:49704800-49706200	Enhancers	HUVEC	blood vessel
42	chr10:49704800-49706200	Genic enhancers	Osteobl	bone
43	chr10:49705000-49705200	Enhancers	Right Ventricle	heart
44	chr10:49705000-49705200	Bivalent Enhancer	Stomach Smooth Muscle	stomach
45	chr10:49705000-49705400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr10:49705000-49705400	Enhancers	Brain Angular Gyrus	brain
47	chr10:49705000-49705600	Enhancers	Colon Smooth Muscle	Colon
48	chr10:49705000-49705600	Enhancers	Rectal Smooth Muscle	rectum
49	chr10:49705000-49705800	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr10:49705000-49705800	Enhancers	Brain Hippocampus Middle	brain

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