Variant report

Variant	rs7260462
Chromosome Location	chr19:36816188-36816189
allele	C/T
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	POLR2A	chr19:36816124-36816296	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
LINC00665	TF binding region

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs12974922	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12974973	0.97[EUR][1000 genomes]
rs12975337	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12975393	0.85[EUR][1000 genomes]
rs12976232	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12979121	0.80[EUR][1000 genomes]
rs12981691	0.82[AMR][1000 genomes]
rs12982193	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12983243	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17639717	1.00[EUR][1000 genomes]
rs34288068	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34386841	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34656490	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34957973	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35152981	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35186959	0.90[EUR][1000 genomes]
rs35338669	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35577694	1.00[EUR][1000 genomes]
rs35669779	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35778194	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35840887	0.84[EUR][1000 genomes]
rs35951452	0.90[EUR][1000 genomes]
rs36000557	0.83[EUR][1000 genomes]
rs36026111	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4133047	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs55825342	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71354192	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71354193	0.86[EUR][1000 genomes]
rs71354194	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs71354195	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7247321	1.00[EUR][1000 genomes]
rs7256914	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7259940	1.00[EUR][1000 genomes]
rs8109676	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs8110644	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8111836	1.00[EUR][1000 genomes]
rs8113338	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv520020	chr19:36721368-36822594	Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv1063208	chr19:36743461-36847486	Strong transcription ZNF genes & repeats Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1056901	chr19:36749658-36847486	Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1061054	chr19:36751703-36847486	Strong transcription Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1055260	chr19:36752221-36847486	ZNF genes & repeats Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv1056850	chr19:36752663-36847486	Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv1064983	chr19:36752663-36847625	Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv1057579	chr19:36752663-36847822	Strong transcription Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island lncRNA	6 gene(s)	inside rSNPs	diseases
9	esv1825146	chr19:36800927-36846993	ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island lncRNA	6 gene(s)	inside rSNPs	diseases
10	esv1837043	chr19:36800927-36846993	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv2474	chr19:36804469-36865415	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	esv2763143	chr19:36805705-36847498	Strong transcription Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island lncRNA	3 gene(s)	inside rSNPs	diseases
13	nsv1059568	chr19:36806475-36847864	Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island lncRNA	3 gene(s)	inside rSNPs	diseases
14	esv1823621	chr19:36807288-36845863	Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent/Poised TSS	TF binding region CpG island lncRNA	3 gene(s)	inside rSNPs	diseases
15	nsv1064343	chr19:36807288-36853102	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36799400-36816400	Weak transcription	Primary T cells from cord blood	blood
2	chr19:36800600-36816400	Weak transcription	Ovary	ovary
3	chr19:36800600-36816600	Weak transcription	Spleen	Spleen
4	chr19:36800800-36816400	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr19:36800800-36822000	Weak transcription	Psoas Muscle	Psoas
6	chr19:36801000-36816400	Weak transcription	Stomach Smooth Muscle	stomach
7	chr19:36801200-36816200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr19:36801200-36816400	Weak transcription	Primary B cells from peripheral blood	blood
9	chr19:36801200-36816400	Weak transcription	Adipose Nuclei	Adipose
10	chr19:36801200-36816600	Weak transcription	Right Ventricle	heart
11	chr19:36801200-36817000	Weak transcription	Brain Anterior Caudate	brain
12	chr19:36801200-36817000	Weak transcription	Fetal Kidney	kidney
13	chr19:36801200-36817600	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr19:36802800-36816400	Weak transcription	Brain Hippocampus Middle	brain
15	chr19:36804000-36820600	Strong transcription	HUES48 Cell Line	embryonic stem cell
16	chr19:36804800-36820800	Weak transcription	Brain Angular Gyrus	brain
17	chr19:36805000-36816600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr19:36805200-36816400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr19:36805400-36822000	Weak transcription	HSMMtube	muscle
20	chr19:36805800-36816400	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr19:36805800-36821000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr19:36806400-36820600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
23	chr19:36806600-36821000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr19:36806600-36822000	Weak transcription	Rectal Smooth Muscle	rectum
25	chr19:36806800-36820000	Strong transcription	H1 Cell Line	embryonic stem cell
26	chr19:36807000-36816400	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr19:36808200-36816400	Weak transcription	Osteobl	bone
28	chr19:36808600-36820000	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr19:36810000-36816600	Weak transcription	Colon Smooth Muscle	Colon
30	chr19:36810000-36820200	Strong transcription	HUES64 Cell Line	embryonic stem cell
31	chr19:36810400-36820800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr19:36810600-36816200	Weak transcription	Primary hematopoietic stem cells	blood
33	chr19:36810600-36816400	Weak transcription	Brain Cingulate Gyrus	brain
34	chr19:36810600-36816400	Weak transcription	Fetal Intestine Large	intestine
35	chr19:36810600-36816600	Weak transcription	Esophagus	oesophagus
36	chr19:36810600-36820600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr19:36810800-36816400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr19:36810800-36816600	Weak transcription	Placenta	Placenta
39	chr19:36811400-36817000	Weak transcription	Fetal Lung	lung
40	chr19:36811600-36816200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr19:36811600-36816400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr19:36811600-36816400	Weak transcription	Left Ventricle	heart
43	chr19:36812000-36816800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr19:36812800-36818400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr19:36812800-36818800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr19:36812800-36821600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
47	chr19:36813200-36821000	Strong transcription	Fetal Muscle Trunk	muscle
48	chr19:36813200-36821800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr19:36813400-36819200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr19:36813400-36821400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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