Variant report

Variant	rs7526983
Chromosome Location	chr1:212460478-212460479
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:212206622..212210088-chr1:212456790..212460936,6	K562	blood:
2	chr1:212458597..212460542-chr1:212586367..212588357,2	MCF-7	breast:
3	chr1:212459558..212461570-chr1:212482463..212485190,2	K562	blood:
4	chr1:212459145..212461703-chr1:212522964..212525110,2	K562	blood:
5	chr1:212247974..212251489-chr1:212456327..212461743,5	MCF-7	breast:
6	chr1:212413271..212416807-chr1:212458908..212461742,4	K562	blood:
7	chr1:210546264..210548680-chr1:212458394..212460879,2	K562	blood:
8	chr1:212340300..212343079-chr1:212458755..212460683,2	K562	blood:
9	chr1:212270755..212277124-chr1:212457942..212461824,7	K562	blood:

No data

Variant related genes	Relation type
ENSG00000143493	Chromatin interaction
ENSG00000065600	Chromatin interaction
ENSG00000264358	Chromatin interaction
ENSG00000229983	Chromatin interaction
ENSG00000200972	Chromatin interaction
ENSG00000143476	Chromatin interaction
ENSG00000252879	Chromatin interaction
ENSG00000225338	Chromatin interaction

Extended variants
information (count: 92 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs11119889	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11119896	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11119905	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11119914	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11119915	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11804839	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12060363	1.00[ASN][1000 genomes]
rs12062234	1.00[ASN][1000 genomes]
rs12067814	1.00[ASN][1000 genomes]
rs12069850	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12073991	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12076639	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12081752	1.00[ASN][1000 genomes]
rs12082507	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12084885	1.00[ASN][1000 genomes]
rs12087923	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13374814	1.00[ASN][1000 genomes]
rs17018845	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17018933	1.00[EUR][1000 genomes]
rs17042040	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs351394	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs351396	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs351399	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs351402	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs351409	1.00[EUR][1000 genomes]
rs376547	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs404987	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs411278	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56862824	1.00[ASN][1000 genomes]
rs57056017	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57377970	1.00[ASN][1000 genomes]
rs57737965	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58338531	1.00[ASN][1000 genomes]
rs59344104	1.00[ASN][1000 genomes]
rs59408650	1.00[ASN][1000 genomes]
rs60399349	1.00[ASN][1000 genomes]
rs66522154	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6658490	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66611603	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6666970	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66832725	1.00[ASN][1000 genomes]
rs6694503	1.00[ASN][1000 genomes]
rs6697091	1.00[ASN][1000 genomes]
rs66987133	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67053561	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67410757	1.00[ASN][1000 genomes]
rs67770348	1.00[ASN][1000 genomes]
rs67947916	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68047079	1.00[ASN][1000 genomes]
rs72752328	1.00[ASN][1000 genomes]
rs72752361	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72752367	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72752370	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72752373	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72752376	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72752377	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72752384	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72752391	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72752396	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72754304	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72754308	1.00[ASN][1000 genomes]
rs72754311	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72754313	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72754324	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72754335	1.00[ASN][1000 genomes]
rs72754344	1.00[ASN][1000 genomes]
rs72754346	1.00[ASN][1000 genomes]
rs72754358	1.00[ASN][1000 genomes]
rs72754374	1.00[ASN][1000 genomes]
rs72754375	1.00[ASN][1000 genomes]
rs72754384	1.00[ASN][1000 genomes]
rs73088569	1.00[ASN][1000 genomes]
rs7512515	1.00[ASN][1000 genomes]
rs7513727	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7519459	1.00[ASN][1000 genomes]
rs7523303	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7524087	1.00[ASN][1000 genomes]
rs7527666	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7538428	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7544944	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7549717	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999738	chr1:212218618-212513690	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1009376	chr1:212292357-212680320	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	nsv549139	chr1:212332294-212876902	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
4	nsv997629	chr1:212404489-212658785	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
5	nsv535286	chr1:212404489-212658785	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
6	esv1799093	chr1:212447167-212468974	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
7	esv1800932	chr1:212447167-212468974	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
8	esv1839997	chr1:212447167-212468974	Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
9	nsv873155	chr1:212449195-212502157	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
10	esv1839887	chr1:212457414-212478047	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
11	esv3442043	chr1:212457854-212460702	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212457000-212461400	Active TSS	Duodenum Mucosa	Duodenum
2	chr1:212457000-212461600	Active TSS	Colonic Mucosa	Colon
3	chr1:212457200-212460800	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr1:212457200-212460800	Active TSS	Pancreas	Pancrea
5	chr1:212457200-212461000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
6	chr1:212457200-212461000	Active TSS	H9 Cell Line	embryonic stem cell
7	chr1:212457200-212461600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr1:212457200-212461600	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr1:212457400-212460600	Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr1:212457400-212460600	Active TSS	Fetal Stomach	stomach
11	chr1:212457400-212461000	Active TSS	Stomach Mucosa	stomach
12	chr1:212457400-212461400	Active TSS	Fetal Intestine Large	intestine
13	chr1:212457400-212461800	Active TSS	HUES48 Cell Line	embryonic stem cell
14	chr1:212457400-212463400	Active TSS	Right Ventricle	heart
15	chr1:212457600-212460600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr1:212457600-212460600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr1:212457600-212460800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr1:212457600-212460800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
19	chr1:212457600-212460800	Active TSS	Brain Anterior Caudate	brain
20	chr1:212457600-212461400	Active TSS	Left Ventricle	heart
21	chr1:212457600-212461600	Active TSS	NHDF-Ad	bronchial
22	chr1:212457600-212461800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr1:212457600-212461800	Active TSS	Esophagus	oesophagus
24	chr1:212457600-212462400	Active TSS	Aorta	Aorta
25	chr1:212457600-212462800	Active TSS	Psoas Muscle	Psoas
26	chr1:212457800-212460600	Active TSS	Rectal Mucosa Donor 29	rectum
27	chr1:212457800-212460600	Active TSS	HMEC	breast
28	chr1:212457800-212460600	Active TSS	HSMMtube	muscle
29	chr1:212457800-212460800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr1:212457800-212460800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr1:212457800-212460800	Active TSS	Brain Angular Gyrus	brain
32	chr1:212457800-212460800	Active TSS	Brain Inferior Temporal Lobe	brain
33	chr1:212457800-212460800	Active TSS	Sigmoid Colon	Sigmoid Colon
34	chr1:212457800-212460800	Active TSS	Small Intestine	intestine
35	chr1:212457800-212461000	Active TSS	H1 Cell Line	embryonic stem cell
36	chr1:212457800-212461000	Active TSS	A549	lung
37	chr1:212457800-212461600	Active TSS	Lung	lung
38	chr1:212457800-212461600	Active TSS	GM12878-XiMat	blood
39	chr1:212457800-212461800	Active TSS	Gastric	stomach
40	chr1:212458000-212460600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr1:212458000-212460600	Active TSS	Primary T cells from cord blood	blood
42	chr1:212458000-212460600	Active TSS	Primary T helper naive cells from peripheral blood	blood
43	chr1:212458000-212460600	Active TSS	Primary T killer memory cells from peripheral blood	blood
44	chr1:212458000-212460600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr1:212458000-212460600	Active TSS	Fetal Lung	lung
46	chr1:212458000-212460600	Active TSS	Rectal Mucosa Donor 31	rectum
47	chr1:212458000-212460600	Active TSS	Thymus	Thymus
48	chr1:212458000-212460600	Active TSS	Osteobl	bone
49	chr1:212458000-212460800	Active TSS	Brain Cingulate Gyrus	brain
50	chr1:212458000-212460800	Active TSS	Colon Smooth Muscle	Colon

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