Variant report

Variant	rs7980310
Chromosome Location	chr12:57789960-57789961
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	chr12:57781288..57782817-chr12:57789392..57792172,2	K562	blood:

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10783823	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10876976	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10876977	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10876978	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10876980	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10876981	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10876983	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11172165	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11172170	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11172190	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11172191	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11172205	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11172211	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11172214	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12230111	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12423654	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1284252	0.82[EUR][1000 genomes]
rs1798710	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2063778	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28504983	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4108243	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4760193	0.81[ASN][1000 genomes]
rs4760228	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4760236	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4760244	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4760305	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4760306	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4760308	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4760348	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4760356	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4760357	0.82[ASN][1000 genomes]
rs481196	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs491750	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs492749	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs512223	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs533975	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs537482	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs543410	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs560048	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs568793	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs575153	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6581135	0.82[ASN][1000 genomes]
rs6581136	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6581139	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7132367	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7133366	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7303070	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7307059	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7309659	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7313824	0.81[ASN][1000 genomes]
rs7398058	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9738004	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[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	nsv1046013	chr12:57714676-57895167	Active TSS Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
2	nsv541502	chr12:57714676-57895167	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
3	nsv516655	chr12:57763520-57811414	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
4	esv3439037	chr12:57789901-57790145	Weak transcription Strong transcription	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57695200-57794600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr12:57731600-57796000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr12:57736400-57795000	Weak transcription	Right Ventricle	heart
4	chr12:57753200-57823800	Weak transcription	Esophagus	oesophagus
5	chr12:57762800-57811800	Weak transcription	Pancreas	Pancrea
6	chr12:57763000-57796800	Weak transcription	Colonic Mucosa	Colon
7	chr12:57763000-57799200	Weak transcription	Psoas Muscle	Psoas
8	chr12:57763000-57800400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr12:57766200-57795000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr12:57766200-57816000	Weak transcription	Fetal Lung	lung
11	chr12:57768600-57790800	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr12:57770800-57824000	Weak transcription	Gastric	stomach
13	chr12:57774400-57819200	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr12:57779200-57790000	Strong transcription	Liver	Liver
15	chr12:57779400-57790000	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr12:57780400-57791400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr12:57780400-57795000	Weak transcription	Brain Substantia Nigra	brain
18	chr12:57780600-57795000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr12:57780800-57823200	Weak transcription	Spleen	Spleen
20	chr12:57781200-57795000	Weak transcription	Aorta	Aorta
21	chr12:57783400-57792800	Weak transcription	K562	blood
22	chr12:57783400-57794600	Weak transcription	Colon Smooth Muscle	Colon
23	chr12:57783600-57797600	Weak transcription	Hela-S3	cervix
24	chr12:57783600-57805000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr12:57783800-57799200	Weak transcription	Primary B cells from cord blood	blood
26	chr12:57783800-57800200	Weak transcription	HSMMtube	muscle
27	chr12:57783800-57808600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr12:57783800-57809000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr12:57783800-57823200	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr12:57784000-57791400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr12:57784200-57791200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr12:57784200-57794600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr12:57784200-57794600	Weak transcription	Fetal Heart	heart
34	chr12:57784200-57795000	Weak transcription	Brain Anterior Caudate	brain
35	chr12:57784200-57809800	Weak transcription	Osteobl	bone
36	chr12:57784200-57818000	Weak transcription	HSMM	muscle
37	chr12:57784400-57794600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr12:57784400-57794600	Weak transcription	HMEC	breast
39	chr12:57784400-57794800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr12:57784400-57794800	Weak transcription	Brain Angular Gyrus	brain
41	chr12:57784400-57795000	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr12:57784400-57808800	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr12:57784400-57813600	Weak transcription	Primary hematopoietic stem cells	blood
44	chr12:57784400-57816400	Weak transcription	NHLF	lung
45	chr12:57784600-57795000	Weak transcription	Brain Cingulate Gyrus	brain
46	chr12:57785600-57792000	Strong transcription	Fetal Intestine Small	intestine
47	chr12:57785800-57790000	Strong transcription	Fetal Thymus	thymus
48	chr12:57786000-57790000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr12:57786000-57790000	Strong transcription	Sigmoid Colon	Sigmoid Colon
50	chr12:57786000-57791000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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