Variant report

Variant	nsv527878
Chromosome Location	chr1:46649046-46660295
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:46648727-46649253	HepG2	liver:	n/a	n/a
2	BHLHE40	chr1:46649882-46650196	GM12878	blood:	n/a	n/a
3	BRCA1	chr1:46649052-46649130	HepG2	liver:	n/a	n/a
4	BRCA1	chr1:46648772-46649558	Hela-S3	cervix:	n/a	n/a
5	CCNT2	chr1:46651021-46651285	K562	blood:	n/a	n/a
6	CEBPB	chr1:46648860-46649384	IMR90	lung:	n/a	n/a
7	CEBPB	chr1:46648648-46649506	ECC-1	luminal epithelium:	n/a	n/a
8	CEBPB	chr1:46648817-46649078	HepG2	liver:	n/a	n/a
9	CEBPB	chr1:46648785-46649268	Hela-S3	cervix:	n/a	n/a
10	CHD2	chr1:46648812-46649461	Hela-S3	cervix:	n/a	n/a
11	CREB1	chr1:46648884-46649190	A549	lung:	n/a	n/a
12	CTCF	chr1:46649324-46649468	HepG2	liver:	n/a	chr1:46649395-46649403 chr1:46649394-46649415 chr1:46649392-46649410
13	CTCF	chr1:46651260-46651410	GM12865	blood:	n/a	n/a
14	CTCF	chr1:46654140-46654290	AG04449	skin:	n/a	chr1:46654214-46654223 chr1:46654208-46654226
15	CTCF	chr1:46654160-46654310	HRE	kidney:	n/a	chr1:46654214-46654223 chr1:46654208-46654226
16	CTCF	chr1:46654213-46654255	Pancreas_OC	pancreas:	n/a	chr1:46654214-46654223
17	CTCF	chr1:46654120-46654270	GM12872	blood:	n/a	chr1:46654214-46654223 chr1:46654208-46654226
18	CTCF	chr1:46654140-46654290	GM12875	blood:	n/a	chr1:46654214-46654223 chr1:46654208-46654226
19	CTCF	chr1:46654229-46654244	HepG2	liver:	n/a	n/a
20	CTCF	chr1:46654020-46654170	BJ	skin:	n/a	n/a
21	CTCF	chr1:46654140-46654290	HEEpiC	esophagus:	n/a	chr1:46654214-46654223 chr1:46654208-46654226
22	CTCF	chr1:46654140-46654290	GM12878	blood:	n/a	chr1:46654214-46654223 chr1:46654208-46654226
23	CTCF	chr1:46654180-46654330	AG10803	skin:	n/a	chr1:46654214-46654223 chr1:46654208-46654226
24	CTCF	chr1:46649260-46649410	NHEK	skin:	n/a	chr1:46649395-46649403 chr1:46649392-46649410
25	CTCF	chr1:46654140-46654290	HMF	breast:	n/a	chr1:46654214-46654223 chr1:46654208-46654226
26	CTCF	chr1:46654140-46654290	HEK293	kidney:	n/a	chr1:46654214-46654223 chr1:46654208-46654226
27	CTCF	chr1:46654100-46654250	HEEpiC	esophagus:	n/a	chr1:46654214-46654223 chr1:46654208-46654226
28	CTCF	chr1:46653876-46654406	A549	lung:	n/a	chr1:46654214-46654223 chr1:46654208-46654226
29	CTCF	chr1:46654169-46654259	GM10266	blood:	n/a	chr1:46654214-46654223 chr1:46654208-46654226
30	CTCF	chr1:46654160-46654310	BE2_C	brain:	n/a	chr1:46654214-46654223 chr1:46654208-46654226
31	CTCF	chr1:46654120-46654270	HCPEpiC	choroid plexus:	n/a	chr1:46654214-46654223 chr1:46654208-46654226
32	CTCF	chr1:46654180-46654330	BE2_C	brain:	n/a	chr1:46654214-46654223 chr1:46654208-46654226
33	CTCF	chr1:46654160-46654310	AG09319	gingival:	n/a	chr1:46654214-46654223 chr1:46654208-46654226
34	CTCF	chr1:46654060-46654210	GM06990	blood:	n/a	n/a
35	CTCF	chr1:46654115-46654322	K562	blood:	n/a	chr1:46654214-46654223 chr1:46654208-46654226
36	CTCF	chr1:46654080-46654230	HCT-116	colon:	n/a	chr1:46654214-46654223 chr1:46654208-46654226
37	CTCF	chr1:46654060-46654210	SAEC	small airway:	n/a	n/a
38	CTCF	chr1:46649280-46649430	HEEpiC	esophagus:	n/a	chr1:46649395-46649403 chr1:46649394-46649415 chr1:46649392-46649410
39	CTCF	chr1:46654065-46654281	K562	blood:	n/a	chr1:46654214-46654223 chr1:46654208-46654226
40	CTCF	chr1:46649260-46649410	HRPEpiC	eye:	n/a	chr1:46649395-46649403 chr1:46649392-46649410
41	CTCF	chr1:46654120-46654270	HEK293	kidney:	n/a	chr1:46654214-46654223 chr1:46654208-46654226
42	CTCF	chr1:46654146-46654301	HepG2	liver:	n/a	chr1:46654214-46654223 chr1:46654208-46654226
43	CTCF	chr1:46654084-46654371	K562	blood:	n/a	chr1:46654214-46654223 chr1:46654208-46654226
44	CTCF	chr1:46654180-46654330	NHEK	skin:	n/a	chr1:46654214-46654223 chr1:46654208-46654226
45	CTCF	chr1:46654160-46654310	GM12868	blood:	n/a	chr1:46654214-46654223 chr1:46654208-46654226
46	CTCF	chr1:46654133-46654311	MCF-7	breast:	n/a	chr1:46654214-46654223 chr1:46654208-46654226
47	CTCF	chr1:46654160-46654310	GM12872	blood:	n/a	chr1:46654214-46654223 chr1:46654208-46654226
48	CTCF	chr1:46654147-46654239	MCF-7	breast:	n/a	chr1:46654214-46654223 chr1:46654208-46654226
49	CTCF	chr1:46654198-46654276	ProgFib	skin:	n/a	chr1:46654214-46654223 chr1:46654208-46654226
50	CTCF	chr1:46654190-46654257	GM12878	blood:	n/a	chr1:46654214-46654223 chr1:46654208-46654226

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:46654770-46654820	PFSK-1	brain:	n/a
2	chr1:46649970-46650020	IMR90	lung:	fetal
3	chr1:46657852-46657902	HCT-116	colon:	n/a
4	chr1:46654770-46654820	PFSK-1	brain:	n/a
5	chr1:46649970-46650020	IMR90	lung:	fetal
6	chr1:46657852-46657902	HCT-116	colon:	n/a
7	chr1:46651377-46651427	SAEC	small airway:	n/a
8	chr1:46651377-46651427	PANC-1	pancreas:	n/a
9	chr1:46649132-46649182	AG04450	lung:	fetal
10	chr1:46649132-46649182	ECC-1	luminal epithelium:	n/a
11	chr1:46657852-46657902	AG09319	gingival:	n/a
12	chr1:46651377-46651427	SK-N-MC	brain:	n/a
13	chr1:46654770-46654820	HCF	heart:	n/a
14	chr1:46654770-46654820	PANC-1	pancreas:	n/a
15	chr1:46654770-46654820	MCF10A-Er-Src	breast:	n/a
16	chr1:46649132-46649182	Hela-S3	cervix:	n/a
17	chr1:46649132-46649182	PANC-1	pancreas:	n/a
18	chr1:46654770-46654820	GM06990	blood:	n/a
19	chr1:46651377-46651427	AG09309	skin:	n/a
20	chr1:46654770-46654820	CMK	blood:	n/a
21	chr1:46657852-46657902	SKMC	muscle:	n/a
22	chr1:46657852-46657902	PFSK-1	brain:	n/a
23	chr1:46649970-46650020	PFSK-1	brain:	n/a
24	chr1:46649970-46650020	SK-N-SH_RA	brain:	n/a
25	chr1:46649970-46650020	HEK293	kidney:	embryo
26	chr1:46654770-46654820	HRPEpiC	eye:	n/a
27	chr1:46649132-46649182	HCT-116	colon:	n/a
28	chr1:46649132-46649182	MCF-7	breast:	n/a
29	chr1:46657852-46657902	NH-A	brain:	n/a
30	chr1:46657852-46657902	GM12892	blood:	n/a
31	chr1:46649970-46650020	AoSMC	blood vessel:	n/a
32	chr1:46657852-46657902	LNCaP	prostate:	n/a
33	chr1:46649132-46649182	CMK	blood:	n/a
34	chr1:46654770-46654820	Hepatocyte	liver:	n/a
35	chr1:46657852-46657902	SK-N-MC	brain:	n/a
36	chr1:46654770-46654820	GM12878	blood:	n/a
37	chr1:46649132-46649182	SK-N-SH	brain:	n/a
38	chr1:46651377-46651427	GM12891	blood:	n/a
39	chr1:46649132-46649182	NHBE	bronchial:	n/a
40	chr1:46651377-46651427	HAEpiC	amniotic membrane:	n/a
41	chr1:46654770-46654820	AG04449	skin:	fetal
42	chr1:46649132-46649182	BE2_C	brain:	n/a
43	chr1:46657852-46657902	Hepatocyte	liver:	n/a
44	chr1:46649970-46650020	ProgFib	skin:	n/a
45	chr1:46654770-46654820	HRE	kidney:	n/a
46	chr1:46657852-46657902	BJ	skin:	n/a
47	chr1:46649132-46649182	NHDF-neo	bronchial:	n/a
48	chr1:46649970-46650020	AG09309	skin:	n/a
49	chr1:46651377-46651427	NHBE	bronchial:	n/a
50	chr1:46649970-46650020	HAEpiC	amniotic membrane:	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:46597572..46599707-chr1:46650898..46652531,2	K562	blood:
2	chr1:46648447..46653398-chr1:46660649..46666552,10	K562	blood:
3	chr1:46649178..46652657-chr1:46804646..46808340,3	K562	blood:
4	chr1:46651145..46653630-chr1:46655330..46656931,2	K562	blood:
5	chr1:46644247..46646808-chr1:46647316..46649049,2	MCF-7	breast:
6	chr1:46596990..46600235-chr1:46653510..46656266,3	K562	blood:
7	chr1:46648153..46649948-chr1:46767534..46769281,2	MCF-7	breast:
8	chr1:46506035..46508905-chr1:46652917..46655021,2	K562	blood:
9	chr1:46597522..46599871-chr1:46652331..46654981,2	MCF-7	breast:
10	chr1:46635707..46641847-chr1:46658318..46665376,6	K562	blood:
11	chr1:46635040..46637380-chr1:46652840..46654559,2	MCF-7	breast:
12	chr1:46655055..46657089-chr1:46660315..46664109,3	K562	blood:
13	chr1:46641730..46644233-chr1:46656558..46658079,2	K562	blood:
14	chr1:46655107..46657515-chr1:46657628..46660092,2	K562	blood:
15	chr1:46646789..46649181-chr1:46713269..46714809,2	K562	blood:
16	chr1:46638980..46642595-chr1:46645721..46649189,9	MCF-7	breast:
17	chr1:46645973..46650649-chr1:46685566..46691437,5	MCF-7	breast:
18	chr1:46649532..46653630-chr1:46654229..46657626,5	K562	blood:
19	chr1:46655107..46657515-chr1:46657628..46660092,2	K562	blood:
20	chr1:46636697..46639165-chr1:46652056..46653716,2	MCF-7	breast:
21	chr1:46593944..46606364-chr1:46632700..46654752,92	MCF-7	breast:
22	chr1:46595304..46602065-chr1:46660247..46665309,8	MCF-7	breast:
23	chr1:46654141..46655065-chr1:46686530..46687520,2	K562	blood:
24	chr1:46650088..46654431-chr1:46660649..46664517,6	K562	blood:
25	chr1:46649532..46653630-chr1:46654229..46657626,5	K562	blood:
26	chr1:46592691..46601867-chr1:46642778..46650670,25	MCF-7	breast:

No.	miRNA target gene	miRNA name	Chromosome Location
1	POMGNT1	hsa-miR-330-5p	chr1:46656879-46656900
2	POMGNT1	hsa-miR-103a-3p	chr1:46654553-46654575
3	POMGNT1	hsa-miR-103a-3p	chr1:46656605-46656628

Variant related genes	Relation type
TSPAN1	TF binding region
POMGNT1	TF binding region
TSPAN1	CpG island
POMGNT1	CpG island
ENSG00000085998	chromatin interactions
ENSG00000117481	chromatin interactions
ENSG00000227857	chromatin interactions
ENSG00000117461	chromatin interactions
ENSG00000085999	chromatin interactions
ENSG00000117472	chromatin interactions
ENSG00000250719	chromatin interactions
ENSG00000132128	chromatin interactions

Extended variants
information (count: 541 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:541 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10890384	chr1:46649046-46649047	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs549743939	chr1:46649114-46649115	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
3	rs568223688	chr1:46649160-46649161	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
4	rs185702544	chr1:46649165-46649166	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
5	rs143512301	chr1:46649166-46649167	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
6	rs565743266	chr1:46649172-46649173	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
7	rs539397995	chr1:46649235-46649236	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs146762541	chr1:46649303-46649304	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs141181595	chr1:46649310-46649311	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs113043967	chr1:46649312-46649313	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs537533079	chr1:46649318-46649319	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
12	rs115741661	chr1:46649319-46649320	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
13	rs574169675	chr1:46649326-46649327	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
14	rs555771079	chr1:46649353-46649354	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
15	rs535348154	chr1:46649393-46649394	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
16	rs574184662	chr1:46649417-46649418	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
17	rs553656333	chr1:46649423-46649424	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
18	rs572092768	chr1:46649454-46649455	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
19	rs190525797	chr1:46649465-46649466	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
20	rs5773901	chr1:46649488-46649489	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
21	rs397721270	chr1:46649489-46649490	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
22	rs564093278	chr1:46649495-46649496	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
23	rs576083983	chr1:46649536-46649537	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
24	rs543500153	chr1:46649546-46649547	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
25	rs377053375	chr1:46649568-46649569	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
26	rs368927958	chr1:46649572-46649573	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
27	rs561772795	chr1:46649610-46649611	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
28	rs563001932	chr1:46649629-46649630	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
29	rs35564826	chr1:46649656-46649657	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
30	rs547289346	chr1:46649664-46649665	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
31	rs559191315	chr1:46649720-46649721	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
32	rs533044857	chr1:46649723-46649724	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
33	rs551515208	chr1:46649729-46649730	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
34	rs150195345	chr1:46649762-46649763	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
35	rs571599585	chr1:46649804-46649805	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Strong transcription Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
36	rs549417549	chr1:46649811-46649812	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Strong transcription Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
37	rs567767952	chr1:46649827-46649828	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Strong transcription Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
38	rs77885280	chr1:46649848-46649849	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Strong transcription Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
39	rs537704696	chr1:46649849-46649850	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Strong transcription Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
40	rs201076923	chr1:46649856-46649857	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Strong transcription Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
41	rs200085222	chr1:46649858-46649859	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Strong transcription Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
42	rs181648118	chr1:46649864-46649865	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Strong transcription Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
43	rs201704042	chr1:46649891-46649892	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Strong transcription Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
44	rs2234267	chr1:46649918-46649919	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Strong transcription Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
45	rs150230789	chr1:46649922-46649923	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Strong transcription Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
46	rs138700033	chr1:46649934-46649935	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Strong transcription Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
47	rs138801780	chr1:46649963-46649964	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Strong transcription Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
48	rs575979837	chr1:46649973-46649974	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
49	rs566892036	chr1:46649977-46649978	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
50	rs543159906	chr1:46649994-46649995	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:88)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	17603634	CNVD
Soft tissue tumor	16732325	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic myeloid leukemia	21384125	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Melanoma	17363583	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Muscle-eye-brain disease	21572526	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	19287155	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Neuroblastoma	21899760	CNVD
Uveal melanoma	20484589	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:594 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:46637800-46649600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr1:46639400-46653800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr1:46639600-46652800	Weak transcription	Brain Germinal Matrix	brain
4	chr1:46640800-46656400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:46644800-46651400	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr1:46645000-46651400	Enhancers	Fetal Thymus	thymus
7	chr1:46645200-46649800	Enhancers	Placenta	Placenta
8	chr1:46645200-46650200	Enhancers	Fetal Muscle Trunk	muscle
9	chr1:46645200-46651400	Enhancers	Pancreas	Pancrea
10	chr1:46645200-46657800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr1:46645400-46649200	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr1:46645400-46649600	Weak transcription	Primary hematopoietic stem cells	blood
13	chr1:46645400-46650600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr1:46645400-46652200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr1:46645600-46649200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr1:46645600-46649600	Weak transcription	Primary B cells from peripheral blood	blood
17	chr1:46645600-46650400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr1:46645600-46650400	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr1:46645600-46650800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr1:46645600-46652800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr1:46645600-46653200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr1:46645600-46653600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr1:46645600-46658200	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr1:46645800-46663200	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr1:46646000-46649200	Active TSS	Colonic Mucosa	Colon
26	chr1:46646000-46652800	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr1:46646000-46653200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr1:46646000-46654400	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr1:46646000-46657600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr1:46646200-46650800	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr1:46646200-46652800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr1:46646400-46649200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr1:46646400-46650200	Weak transcription	Brain Hippocampus Middle	brain
34	chr1:46646400-46650400	Weak transcription	K562	blood
35	chr1:46646400-46650800	Weak transcription	Brain Cingulate Gyrus	brain
36	chr1:46646600-46649800	Enhancers	HUVEC	blood vessel
37	chr1:46646800-46649800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr1:46646800-46650000	Enhancers	Fetal Muscle Leg	muscle
39	chr1:46646800-46650400	Enhancers	A549	lung
40	chr1:46647000-46649600	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr1:46647000-46650000	Enhancers	NHDF-Ad	bronchial
42	chr1:46647000-46650600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr1:46647000-46651400	Enhancers	Muscle Satellite Cultured Cells	--
44	chr1:46647000-46653400	Weak transcription	Fetal Brain Male	brain
45	chr1:46647200-46649200	Enhancers	Fetal Lung	lung
46	chr1:46647200-46649800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr1:46647200-46649800	Enhancers	NHLF	lung
48	chr1:46647200-46650200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr1:46647200-46650200	Enhancers	NH-A	brain
50	chr1:46647200-46651400	Enhancers	HSMM	muscle

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