Variant report

Variant	rs7962519
Chromosome Location	chr12:62868885-62868886
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:62868642..62871581-chr12:62880565..62882888,3	K562	blood:
2	chr12:62859410..62862705-chr12:62865560..62868888,4	K562	blood:
3	chr12:62868193..62870029-chr12:62871627..62873432,2	K562	blood:
4	chr12:62866735..62869361-chr12:62869978..62871567,2	K562	blood:
5	chr12:62867668..62870128-chr12:62877544..62880098,2	MCF-7	breast:
6	chr12:62858973..62862705-chr12:62864289..62872208,17	MCF-7	breast:

Variant related genes	Relation type
ENSG00000061987	Chromatin interaction
ENSG00000257568	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10877855	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10877856	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10877857	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10877859	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10877862	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10877864	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10877870	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11174487	0.90[CEU][hapmap];0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11174494	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11174495	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11174496	0.91[AFR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11174498	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11174504	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11174514	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11174517	0.90[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11174518	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11174527	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11174537	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11174557	0.91[CEU][hapmap];0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11174562	0.82[AFR][1000 genomes]
rs11174568	0.91[AFR][1000 genomes]
rs11174571	0.92[CEU][hapmap];0.91[AFR][1000 genomes]
rs11174575	0.83[CEU][hapmap];0.91[AFR][1000 genomes]
rs11520127	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11613132	1.00[CEU][hapmap];0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11614022	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11614822	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12367878	0.83[CEU][hapmap];0.91[AFR][1000 genomes]
rs12369751	0.83[CEU][hapmap];0.91[AFR][1000 genomes]
rs12369961	0.92[CEU][hapmap];0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12369985	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12370404	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17731893	0.82[AFR][1000 genomes]
rs17732089	0.91[CEU][hapmap];0.82[AFR][1000 genomes]
rs17732182	0.91[AFR][1000 genomes]
rs55833440	0.82[AFR][1000 genomes]
rs7296573	0.91[CEU][hapmap];0.91[AFR][1000 genomes]
rs7297093	0.83[CEU][hapmap];0.91[AFR][1000 genomes]
rs7301016	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7302094	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7302456	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7303825	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73124315	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73126004	0.82[AFR][1000 genomes]
rs73126024	0.91[AFR][1000 genomes]
rs73141014	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73141045	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7975109	0.91[CEU][hapmap];0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530690	chr12:62678463-62999462	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription 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 miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv899158	chr12:62783967-62937259	Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv899159	chr12:62783967-62945245	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv821671	chr12:62794304-63007964	Strong transcription ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:62861800-62879800	Weak transcription	HSMMtube	muscle
2	chr12:62861800-62902200	Weak transcription	Fetal Kidney	kidney
3	chr12:62862800-62895400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr12:62863000-62869400	Weak transcription	Fetal Intestine Small	intestine
5	chr12:62863200-62870400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr12:62863200-62870600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr12:62863200-62870600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr12:62863200-62871000	Weak transcription	Placenta	Placenta
9	chr12:62863200-62871000	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr12:62863200-62871200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr12:62863200-62875600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr12:62863200-62875600	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr12:62863200-62875600	Weak transcription	Gastric	stomach
14	chr12:62863200-62876000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr12:62863200-62879400	Weak transcription	Thymus	Thymus
16	chr12:62863200-62881400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr12:62863200-62895200	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr12:62863200-62896800	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr12:62863200-62901800	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr12:62863200-62937400	Weak transcription	Pancreas	Pancrea
21	chr12:62863400-62870600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr12:62863400-62870600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr12:62863400-62870800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr12:62863400-62870800	Weak transcription	Duodenum Mucosa	Duodenum
25	chr12:62863400-62871400	Weak transcription	Fetal Brain Male	brain
26	chr12:62863400-62871400	Weak transcription	Osteobl	bone
27	chr12:62863400-62874000	Weak transcription	Hela-S3	cervix
28	chr12:62863400-62875600	Weak transcription	Brain Angular Gyrus	brain
29	chr12:62863400-62877600	Weak transcription	A549	lung
30	chr12:62863400-62878200	Weak transcription	Fetal Lung	lung
31	chr12:62863400-62895400	Weak transcription	Stomach Smooth Muscle	stomach
32	chr12:62863400-62902000	Weak transcription	HUVEC	blood vessel
33	chr12:62863400-62911000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr12:62863600-62870600	Weak transcription	HepG2	liver
35	chr12:62863600-62874200	Weak transcription	Brain Substantia Nigra	brain
36	chr12:62863600-62875400	Weak transcription	Brain Anterior Caudate	brain
37	chr12:62863600-62875600	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr12:62863600-62877400	Weak transcription	NHEK	skin
39	chr12:62863600-62892600	Weak transcription	NH-A	brain
40	chr12:62863600-62926400	Weak transcription	Colon Smooth Muscle	Colon
41	chr12:62864000-62870400	Weak transcription	Fetal Muscle Leg	muscle
42	chr12:62864000-62870800	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr12:62864000-62871600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr12:62864000-62873600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr12:62864000-62874200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr12:62864000-62874200	Weak transcription	Dnd41	blood
47	chr12:62864000-62874400	Weak transcription	Colonic Mucosa	Colon
48	chr12:62864000-62874400	Weak transcription	HMEC	breast
49	chr12:62864000-62875400	Weak transcription	Brain Cingulate Gyrus	brain
50	chr12:62864000-62878800	Weak transcription	Duodenum Smooth Muscle	Duodenum

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