Variant report

Variant	rs2172613
Chromosome Location	chr15:57802472-57802473
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:57797927..57800913-chr15:57801647..57804497,4	K562	blood:
2	chr15:57797159..57800107-chr15:57801647..57804598,2	K562	blood:
3	chr15:57797923..57800458-chr15:57801909..57803943,2	MCF-7	breast:
4	chr15:57801026..57803220-chr15:57837290..57839682,2	K562	blood:

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs10220805	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10518923	0.92[CEU][hapmap];0.87[CHB][hapmap];0.82[GIH][hapmap];0.86[JPT][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes]
rs10775165	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10851614	0.92[CEU][hapmap];0.87[CHB][hapmap];0.82[CHD][hapmap];0.87[GIH][hapmap];0.91[JPT][hapmap];1.00[TSI][hapmap];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10851615	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10851616	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10851617	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11071323	0.92[CEU][hapmap];0.87[CHB][hapmap];0.82[CHD][hapmap];0.87[GIH][hapmap];0.95[JPT][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes]
rs11071324	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11071325	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11071326	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11630712	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11630713	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11630740	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11631943	0.85[CEU][hapmap];0.86[CHB][hapmap];0.82[JPT][hapmap];0.90[EUR][1000 genomes]
rs11634739	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.84[YRI][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11635065	0.90[ASN][1000 genomes]
rs11637220	0.84[CEU][hapmap];0.87[CHB][hapmap];0.86[JPT][hapmap];0.89[EUR][1000 genomes]
rs11637265	0.90[EUR][1000 genomes]
rs12323972	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12437888	0.92[CEU][hapmap];0.87[CHB][hapmap];0.86[JPT][hapmap];1.00[TSI][hapmap];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12438901	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12439099	1.00[CEU][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12439126	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12440928	0.85[CEU][hapmap];0.88[EUR][1000 genomes]
rs12441608	0.83[EUR][1000 genomes]
rs12442969	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12592077	0.92[CEU][hapmap];0.90[CHB][hapmap];0.88[JPT][hapmap];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12593650	1.00[CEU][hapmap];0.81[CHB][hapmap];0.86[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12593685	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12593721	0.92[CEU][hapmap];0.83[CHB][hapmap];0.90[EUR][1000 genomes]
rs12594455	0.89[EUR][1000 genomes]
rs12594504	0.85[CEU][hapmap];0.89[EUR][1000 genomes]
rs12595135	1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.93[MEX][hapmap];1.00[TSI][hapmap];0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12595169	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1280387	0.92[CEU][hapmap];0.88[EUR][1000 genomes]
rs1666567	0.82[JPT][hapmap];0.85[MEX][hapmap];0.92[TSI][hapmap];0.82[AMR][1000 genomes]
rs16977531	0.85[CEU][hapmap];0.87[CHB][hapmap];0.81[JPT][hapmap];0.90[EUR][1000 genomes]
rs16977534	0.91[CEU][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap];0.89[EUR][1000 genomes]
rs16977546	0.91[YRI][hapmap]
rs16977553	0.88[AFR][1000 genomes]
rs16977558	1.00[CEU][hapmap];0.83[CHB][hapmap];0.93[CHD][hapmap];0.87[GIH][hapmap];0.91[JPT][hapmap];0.92[MEX][hapmap];0.96[TSI][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16977560	1.00[CEU][hapmap];0.83[CHB][hapmap];0.91[JPT][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16977561	1.00[CEU][hapmap];0.83[CHB][hapmap];0.93[CHD][hapmap];0.90[GIH][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16977567	0.84[CHD][hapmap];0.91[JPT][hapmap];0.96[TSI][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1980048	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1994888	0.92[CEU][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1994889	0.92[CEU][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2087981	0.91[EUR][1000 genomes]
rs2131740	1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2172614	0.85[MEX][hapmap];0.92[TSI][hapmap];0.86[AMR][1000 genomes]
rs2414510	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2942043	0.92[CEU][hapmap];0.82[GIH][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes]
rs4545749	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55782827	0.82[AFR][1000 genomes]
rs58161678	0.89[EUR][1000 genomes]
rs58253526	0.89[EUR][1000 genomes]
rs7164486	0.93[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7167112	0.83[CEU][hapmap];0.85[ASN][1000 genomes]
rs7167118	0.82[AFR][1000 genomes]
rs7182268	0.81[TSI][hapmap]
rs73421901	0.81[AFR][1000 genomes]
rs73423506	0.82[AFR][1000 genomes]
rs73423512	0.82[AFR][1000 genomes]
rs73423518	0.82[AFR][1000 genomes]
rs73423522	0.82[AFR][1000 genomes]
rs74016236	0.82[AFR][1000 genomes]
rs7496403	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs878425	0.82[JPT][hapmap]
rs932028	0.92[CEU][hapmap];0.95[CHB][hapmap];0.84[CHD][hapmap];0.90[GIH][hapmap];0.95[JPT][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs932029	0.85[CEU][hapmap];0.92[TSI][hapmap];0.85[EUR][1000 genomes]
rs955206	0.92[CEU][hapmap];0.83[CHB][hapmap];0.91[JPT][hapmap];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs966693	0.82[JPT][hapmap];0.81[EUR][1000 genomes]
rs9806311	0.85[CEU][hapmap];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045611	chr15:57350965-58070807	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv1054547	chr15:57600488-57977659	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv833022	chr15:57657412-57830112	Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1045620	chr15:57680733-57804237	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv904255	chr15:57790436-57907574	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:57790000-57808600	Weak transcription	Fetal Brain Male	brain
2	chr15:57793400-57803200	Enhancers	Placenta	Placenta
3	chr15:57793600-57803200	Enhancers	Fetal Intestine Small	intestine
4	chr15:57794200-57808800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr15:57797000-57814000	Weak transcription	Rectal Smooth Muscle	rectum
6	chr15:57797000-57827200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr15:57797800-57802600	Weak transcription	Osteobl	bone
8	chr15:57798000-57805200	Enhancers	Fetal Heart	heart
9	chr15:57798400-57809400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr15:57798600-57808600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr15:57799000-57802800	Weak transcription	Brain Anterior Caudate	brain
12	chr15:57799000-57809000	Weak transcription	HepG2	liver
13	chr15:57800000-57803400	Enhancers	Primary B cells from peripheral blood	blood
14	chr15:57800600-57802800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr15:57800600-57802800	Enhancers	Primary B cells from cord blood	blood
16	chr15:57800600-57803200	Enhancers	Pancreas	Pancrea
17	chr15:57800800-57803000	Enhancers	Fetal Kidney	kidney
18	chr15:57800800-57803200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr15:57800800-57803200	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr15:57800800-57803200	Enhancers	Fetal Muscle Trunk	muscle
21	chr15:57800800-57803200	Enhancers	Fetal Muscle Leg	muscle
22	chr15:57801200-57802600	Enhancers	HSMM	muscle
23	chr15:57801200-57802800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr15:57801200-57803200	Enhancers	Fetal Stomach	stomach
25	chr15:57801200-57803200	Enhancers	Gastric	stomach
26	chr15:57801200-57803200	Enhancers	Stomach Smooth Muscle	stomach
27	chr15:57801200-57803600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr15:57801400-57802800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr15:57801400-57802800	Enhancers	NHEK	skin
30	chr15:57801400-57803200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr15:57801400-57803200	Enhancers	Ovary	ovary
32	chr15:57801400-57803200	Enhancers	HMEC	breast
33	chr15:57801400-57803600	Enhancers	Fetal Lung	lung
34	chr15:57801600-57802800	Enhancers	NHLF	lung
35	chr15:57801600-57803000	Enhancers	Rectal Mucosa Donor 31	rectum
36	chr15:57801600-57803200	Enhancers	Right Ventricle	heart
37	chr15:57801600-57803400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr15:57801600-57808800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr15:57801800-57802600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr15:57801800-57802600	Enhancers	Liver	Liver
41	chr15:57801800-57803200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr15:57801800-57808400	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr15:57801800-57808800	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr15:57801800-57808800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr15:57801800-57809000	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr15:57801800-57819000	Weak transcription	Esophagus	oesophagus
47	chr15:57802000-57802600	Weak transcription	Lung	lung
48	chr15:57802000-57802800	Enhancers	Brain Hippocampus Middle	brain
49	chr15:57802000-57803000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr15:57802000-57803200	Enhancers	Aorta	Aorta

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