Variant report

Variant	rs12152218
Chromosome Location	chr3:119878877-119878878
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:119872156..119875063-chr3:119876468..119880752,4	MCF-7	breast:
2	chr3:119811552..119816110-chr3:119876873..119880386,8	MCF-7	breast:
3	chr15:96452853..96454380-chr3:119876563..119879196,2	MCF-7	breast:
4	chr3:119864495..119866427-chr3:119878369..119880021,2	K562	blood:
5	chr3:119865137..119868181-chr3:119877404..119880372,3	MCF-7	breast:
6	chr3:119874448..119876522-chr3:119878806..119880321,2	MCF-7	breast:
7	chr3:119877444..119878944-chr3:119896183..119899107,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000082701	Chromatin interaction
ENSG00000242622	Chromatin interaction

Extended variants
information (count: 126 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:119)

rs_ID	r²[population]
rs10049256	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1085620	0.86[ASN][1000 genomes]
rs1085622	0.86[ASN][1000 genomes]
rs1085624	0.86[ASN][1000 genomes]
rs10934512	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.92[AFR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10934514	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10934515	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10934516	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10934517	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1154596	0.88[CEU][hapmap]
rs1154597	0.87[CEU][hapmap]
rs11707711	0.90[AFR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11915552	0.83[ASN][1000 genomes]
rs13314898	0.81[ASN][1000 genomes]
rs1352458	0.92[AFR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1388755	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1488761	0.92[AFR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1488762	0.92[AFR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1488764	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.92[AFR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1492271	0.87[CEU][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16830683	0.87[CEU][hapmap]
rs182839	0.87[CEU][hapmap]
rs1907681	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.89[AFR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2007756	0.90[EUR][1000 genomes]
rs2035671	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2035672	0.87[EUR][1000 genomes]
rs2035673	0.87[EUR][1000 genomes]
rs2035674	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs2046954	0.84[AMR][1000 genomes]
rs2130000	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2130001	0.86[EUR][1000 genomes]
rs2131174	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2171598	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2171599	0.87[EUR][1000 genomes]
rs2319541	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.92[AFR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2319542	0.92[AFR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2319543	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28398784	0.84[EUR][1000 genomes]
rs2874022	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.89[AFR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2874023	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2943755	0.81[ASN][1000 genomes]
rs2971211	0.85[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs2971213	0.86[ASN][1000 genomes]
rs3112282	0.84[EUR][1000 genomes]
rs3112283	0.84[EUR][1000 genomes]
rs334534	0.87[CEU][hapmap]
rs334539	1.00[CEU][hapmap]
rs334545	1.00[CEU][hapmap]
rs334549	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs334561	0.88[CEU][hapmap]
rs4263318	0.86[ASN][1000 genomes]
rs4314205	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4488869	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4676804	0.92[AFR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4676809	0.92[AFR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4676822	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.92[AFR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4676832	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6438554	0.88[CEU][hapmap]
rs6438558	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs6438559	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6438561	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6438562	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6438564	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6438566	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6438567	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.92[AFR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6764549	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6769988	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6772226	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6774210	1.00[JPT][hapmap]
rs6775625	0.84[AFR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6776122	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.92[AFR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6777971	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6781470	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs6782570	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6784239	0.88[CEU][hapmap]
rs6787458	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6794478	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6797689	0.87[CEU][hapmap]
rs6803611	0.88[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6805050	0.92[AFR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7637828	0.92[AFR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7641838	0.92[AFR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7642171	0.86[CEU][hapmap];0.85[CHB][hapmap];0.88[YRI][hapmap];0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7644268	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs7650554	0.87[CEU][hapmap]
rs7653263	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AFR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7653396	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.92[AFR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs787185	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs787198	1.00[JPT][hapmap]
rs787211	0.88[CEU][hapmap];0.86[ASN][1000 genomes]
rs796824	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs813697	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs814182	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs901920	0.86[EUR][1000 genomes]
rs902790	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.92[AFR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs902791	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.92[AFR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs902792	0.92[AFR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs902794	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.92[AFR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs902795	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs923380	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs923726	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs923727	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs923728	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9289142	0.92[AFR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9289143	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs979682	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.92[AFR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9811483	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9813834	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.92[AFR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9841122	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];1.00[AFR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9841303	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9842302	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9849023	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9853082	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9857123	0.92[AFR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9858566	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9868058	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9868312	0.92[AFR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9872165	0.89[AFR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9881717	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[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	nsv949589	chr3:119560606-120175917	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer 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	80 gene(s)	inside rSNPs	diseases
2	nsv1001476	chr3:119575386-120075417	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
3	nsv536704	chr3:119575386-120075417	Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
4	nsv829697	chr3:119802856-119918435	Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases
5	nsv877376	chr3:119824037-120119446	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
6	nsv3967	chr3:119857708-119903115	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
7	nsv1013788	chr3:119866722-119912297	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119875200-119896000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr3:119876000-119881400	Enhancers	Placenta	Placenta
3	chr3:119877200-119879600	Enhancers	Fetal Intestine Small	intestine
4	chr3:119877400-119879200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr3:119877600-119880000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr3:119877600-119881600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr3:119877600-119881600	Enhancers	HMEC	breast
8	chr3:119877600-119881600	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr3:119877600-119882600	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr3:119877800-119879400	Enhancers	Colon Smooth Muscle	Colon
11	chr3:119877800-119879600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr3:119877800-119879800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr3:119877800-119880400	Enhancers	NHEK	skin
14	chr3:119877800-119881600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr3:119878000-119879600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr3:119878000-119879600	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr3:119878000-119880000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr3:119878000-119880200	Enhancers	NHDF-Ad	bronchial
19	chr3:119878400-119879400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr3:119878400-119880600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr3:119878600-119879400	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr3:119878600-119879800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr3:119878600-119880000	Enhancers	Muscle Satellite Cultured Cells	--
24	chr3:119878600-119880000	Enhancers	Osteobl	bone
25	chr3:119878800-119879000	Enhancers	Placenta Amnion	Placenta Amnion
26	chr3:119878800-119879000	Enhancers	Small Intestine	intestine
27	chr3:119878800-119879200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr3:119878800-119879200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr3:119878800-119879200	Enhancers	Duodenum Smooth Muscle	Duodenum
30	chr3:119878800-119879200	Enhancers	Fetal Intestine Large	intestine
31	chr3:119878800-119879200	Flanking Active TSS	A549	lung
32	chr3:119878800-119879200	Enhancers	HSMM	muscle
33	chr3:119878800-119879200	Enhancers	NH-A	brain
34	chr3:119878800-119879400	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr3:119878800-119879400	Enhancers	Rectal Smooth Muscle	rectum
36	chr3:119878800-119879400	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr3:119878800-119879400	Flanking Active TSS	Hela-S3	cervix
38	chr3:119878800-119879400	Enhancers	HSMMtube	muscle
39	chr3:119878800-119879600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr3:119878800-119879600	Enhancers	Adipose Nuclei	Adipose

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