Variant report

Variant	rs62461517
Chromosome Location	chr7:64002158-64002159
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:64000508..64002509-chr7:64009002..64010825,2	K562	blood:
2	chr7:64001009..64002704-chr7:64008725..64010502,2	K562	blood:

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs11981770	0.88[ASN][1000 genomes]
rs17138801	0.80[AMR][1000 genomes]
rs17139091	0.82[ASN][1000 genomes]
rs17852813	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2862792	0.91[ASN][1000 genomes]
rs62461493	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62461501	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62461503	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62461504	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62461505	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62461507	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62461510	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62461512	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62461513	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62461515	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62461516	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62461522	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62461525	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62461527	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62461528	0.82[ASN][1000 genomes]
rs62461555	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62461556	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62461557	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62461559	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62462860	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62462863	0.80[AMR][1000 genomes]
rs62462864	0.80[AMR][1000 genomes]
rs62462865	0.80[AMR][1000 genomes]
rs62462867	0.80[AMR][1000 genomes]
rs62462868	0.80[AMR][1000 genomes]
rs62462869	0.80[AMR][1000 genomes]
rs62462870	0.80[AMR][1000 genomes]
rs6944158	0.93[ASN][1000 genomes]
rs7784802	0.91[ASN][1000 genomes]
rs7806596	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv888259	chr7:63363001-64009193	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
2	nsv429759	chr7:63662150-64110550	Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv429760	chr7:63687850-64110550	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	esv2422405	chr7:63709739-64632341	Enhancers Bivalent Enhancer Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
5	nsv427787	chr7:63741770-64419520	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
6	nsv429761	chr7:63747498-64096138	Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
7	esv2764000	chr7:63766980-64275251	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases
8	nsv429762	chr7:63790450-64110550	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
9	esv2755057	chr7:63819849-64345822	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	32 gene(s)	inside rSNPs	diseases
10	nsv1031703	chr7:63839601-64225952	Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
11	nsv464518	chr7:63881238-64506904	Enhancers ZNF genes & repeats Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
12	nsv607312	chr7:63881238-64506904	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
13	nsv1023042	chr7:63956027-64116232	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
14	nsv970855	chr7:63959414-64023731	ZNF genes & repeats Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
15	nsv888271	chr7:63961212-64295884	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
16	nsv888272	chr7:63973216-64004876	Strong transcription ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
17	esv1833009	chr7:63980233-64002859	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
18	nsv888273	chr7:63990100-64291622	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
19	nsv888274	chr7:63990100-64331123	Strong transcription ZNF genes & repeats Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
20	nsv888275	chr7:63990100-64468590	Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
21	nsv888276	chr7:63990100-64511564	Strong transcription ZNF genes & repeats Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
22	nsv1021893	chr7:63995601-64155027	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
23	nsv538892	chr7:63995601-64155027	ZNF genes & repeats Enhancers Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:63974400-64020000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr7:63978200-64022200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:63988400-64011000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr7:63989000-64009800	Weak transcription	K562	blood
5	chr7:63989200-64003200	Weak transcription	Placenta	Placenta
6	chr7:63989200-64005400	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr7:63989200-64007600	Weak transcription	Brain Cingulate Gyrus	brain
8	chr7:63989200-64011600	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr7:63989200-64022600	Weak transcription	Rectal Smooth Muscle	rectum
10	chr7:63989400-64019400	Weak transcription	HUVEC	blood vessel
11	chr7:63989400-64023000	Weak transcription	Gastric	stomach
12	chr7:63989600-64002200	Weak transcription	Stomach Smooth Muscle	stomach
13	chr7:63989600-64003800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr7:63989600-64005600	Weak transcription	Colonic Mucosa	Colon
15	chr7:63994200-64022600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr7:63994400-64003600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr7:63994600-64009600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr7:63995000-64007400	Weak transcription	Brain Hippocampus Middle	brain
19	chr7:63995400-64003800	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr7:63996200-64002200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr7:63996600-64009000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr7:63996800-64002200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr7:63997200-64003400	Weak transcription	Hela-S3	cervix
24	chr7:63997400-64004600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr7:63997400-64015000	Strong transcription	Dnd41	blood
26	chr7:63997600-64002200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr7:63997600-64022600	Weak transcription	Fetal Kidney	kidney
28	chr7:63999200-64002400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr7:63999200-64004600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr7:63999200-64004600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr7:63999400-64004600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
32	chr7:63999600-64002800	Strong transcription	Primary T helper cells PMA-I stimulated	--
33	chr7:63999600-64005200	Strong transcription	Liver	Liver
34	chr7:63999800-64012400	Weak transcription	Fetal Intestine Large	intestine
35	chr7:64000200-64004600	Strong transcription	HUES48 Cell Line	embryonic stem cell
36	chr7:64000200-64004800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr7:64000200-64006200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr7:64000400-64004600	Weak transcription	Fetal Brain Male	brain
39	chr7:64000400-64006800	Weak transcription	Left Ventricle	heart
40	chr7:64000400-64008000	Strong transcription	HUES64 Cell Line	embryonic stem cell
41	chr7:64000400-64013600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr7:64000400-64022800	Weak transcription	Small Intestine	intestine
43	chr7:64001200-64004200	Strong transcription	Adipose Nuclei	Adipose
44	chr7:64001400-64004200	Strong transcription	Cortex derived primary cultured neurospheres	brain
45	chr7:64001400-64004800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr7:64001600-64002400	Strong transcription	Brain Substantia Nigra	brain
47	chr7:64001600-64002600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
48	chr7:64001600-64002600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr7:64001600-64002600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr7:64001600-64002600	ZNF genes & repeats	A549	lung

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