Variant report

Variant	rs2682716
Chromosome Location	chr12:65043065-65043066
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:65040482..65043254-chr12:65048682..65050546,2	MCF-7	breast:
2	chr12:65017089..65019712-chr12:65042869..65045588,2	MCF-7	breast:
3	chr12:65041922..65043471-chr12:65046135..65048901,2	K562	blood:

Variant related genes	Relation type
ENSG00000256314	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10784417	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10784418	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11175483	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11175484	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1147105	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1147107	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1244869	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1244873	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1244878	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1245168	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1245169	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1245179	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1245180	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1245181	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1245183	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1245184	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1245185	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1245186	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1245187	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1264485	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1268914	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1270437	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1270836	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1270837	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1272547	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1383117	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1690259	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1690272	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1690273	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1716490	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1716496	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1716506	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1716517	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1795613	0.92[ASN][1000 genomes]
rs1795618	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1795621	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1795622	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1795624	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1795625	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1797677	0.83[EUR][1000 genomes]
rs1797678	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1797679	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1797684	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1797688	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1797689	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2464347	0.92[ASN][1000 genomes]
rs2620730	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2682714	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2682719	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2682728	0.86[EUR][1000 genomes]
rs2701849	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2701850	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7968403	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7971636	0.92[ASN][1000 genomes]
rs7975455	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832443	chr12:64878856-65057265	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv832444	chr12:64981484-65168472	Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv559203	chr12:65002969-65199922	Genic enhancers Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv1045216	chr12:65009102-65176894	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv541513	chr12:65009102-65176894	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS 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	15 gene(s)	inside rSNPs	diseases
6	nsv469457	chr12:65009243-65195977	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv559204	chr12:65009243-65195977	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:65019800-65047400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr12:65021400-65043400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr12:65025000-65059600	Weak transcription	Thymus	Thymus
4	chr12:65025200-65044000	Weak transcription	Fetal Muscle Trunk	muscle
5	chr12:65026400-65043200	Weak transcription	Fetal Stomach	stomach
6	chr12:65027800-65047600	Weak transcription	Psoas Muscle	Psoas
7	chr12:65028200-65047400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr12:65028400-65047400	Weak transcription	NHDF-Ad	bronchial
9	chr12:65028400-65047400	Weak transcription	NHLF	lung
10	chr12:65028600-65056400	Weak transcription	NHEK	skin
11	chr12:65029600-65044000	Weak transcription	Fetal Lung	lung
12	chr12:65031000-65047600	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr12:65031200-65043400	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr12:65031200-65043600	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr12:65031200-65043800	Weak transcription	Fetal Intestine Small	intestine
16	chr12:65031400-65043400	Weak transcription	Small Intestine	intestine
17	chr12:65033000-65052600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr12:65033400-65043200	Weak transcription	HepG2	liver
19	chr12:65033400-65043400	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr12:65033600-65059400	Weak transcription	Primary hematopoietic stem cells	blood
21	chr12:65033800-65043800	Weak transcription	Duodenum Mucosa	Duodenum
22	chr12:65034000-65043600	Weak transcription	Primary B cells from cord blood	blood
23	chr12:65034200-65043600	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr12:65035400-65043400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr12:65037400-65045200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr12:65038000-65043600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr12:65038200-65043400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr12:65038200-65043600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr12:65038200-65044000	Weak transcription	HUVEC	blood vessel
30	chr12:65038200-65051200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr12:65038400-65043800	Weak transcription	Stomach Mucosa	stomach
32	chr12:65038400-65044000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr12:65038600-65043200	Weak transcription	Adipose Nuclei	Adipose
34	chr12:65038800-65045600	Weak transcription	Ovary	ovary
35	chr12:65039800-65043400	Weak transcription	Rectal Smooth Muscle	rectum
36	chr12:65040400-65043400	Weak transcription	A549	lung
37	chr12:65041400-65043200	Enhancers	Primary T helper cells PMA-I stimulated	--
38	chr12:65041400-65048200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
39	chr12:65041400-65050400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
40	chr12:65041600-65044400	Enhancers	Right Ventricle	heart
41	chr12:65041600-65045200	Genic enhancers	Primary T cells from cord blood	blood
42	chr12:65041600-65047400	Enhancers	Primary T helper naive cells from peripheral blood	blood
43	chr12:65041600-65047800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr12:65041600-65052200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr12:65041800-65043800	Enhancers	Stomach Smooth Muscle	stomach
46	chr12:65041800-65044200	Enhancers	Pancreas	Pancrea
47	chr12:65041800-65044600	Enhancers	Left Ventricle	heart
48	chr12:65041800-65045800	Enhancers	Spleen	Spleen
49	chr12:65041800-65047800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr12:65042000-65044200	Genic enhancers	Primary T cells fromperipheralblood	blood

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