Variant report

Variant	rs34625473
Chromosome Location	chr15:72396357-72396358
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	chr15:72394985..72397263-chr15:72398518..72401032,2	MCF-7	breast:
2	chr15:72394930..72397507-chr15:72409085..72411660,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000166192	Chromatin interaction
ENSG00000066933	Chromatin interaction

Extended variants
information (count: 95 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs11072341	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11072343	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11072344	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1120002	0.94[ASN][1000 genomes]
rs12437582	0.84[ASN][1000 genomes]
rs12438532	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12439689	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12440204	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12440299	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12440435	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap]
rs12440927	1.00[CEU][hapmap];1.00[MEX][hapmap]
rs12441246	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12441470	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12441567	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12441622	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12442680	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12443127	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12592615	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12592858	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12592932	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12592969	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12593082	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12593857	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12593946	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1426168	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs1545825	0.90[ASN][1000 genomes]
rs16953770	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16956539	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16956599	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16956602	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1871834	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[ASN][1000 genomes]
rs1905337	0.80[ASN][1000 genomes]
rs1979459	0.82[ASN][1000 genomes]
rs2288256	1.00[CEU][hapmap];0.90[JPT][hapmap]
rs2305705	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2306575	0.80[ASN][1000 genomes]
rs2415129	0.80[ASN][1000 genomes]
rs28397923	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28639924	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28653163	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28701834	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2929514	0.84[ASN][1000 genomes]
rs2929515	0.84[ASN][1000 genomes]
rs2929521	0.90[ASN][1000 genomes]
rs2929522	0.90[ASN][1000 genomes]
rs2929524	0.84[ASN][1000 genomes]
rs2929530	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[ASN][1000 genomes]
rs2929531	0.90[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.80[ASN][1000 genomes]
rs2929533	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs2957369	0.90[ASN][1000 genomes]
rs2957729	0.84[ASN][1000 genomes]
rs2957730	0.84[ASN][1000 genomes]
rs2957733	0.83[ASN][1000 genomes]
rs2957741	0.90[ASN][1000 genomes]
rs2957747	0.90[ASN][1000 genomes]
rs2957748	0.82[ASN][1000 genomes]
rs2957749	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.92[ASN][1000 genomes]
rs35773391	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3803388	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs3809505	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3825869	0.90[ASN][1000 genomes]
rs4511484	0.90[ASN][1000 genomes]
rs4776583	0.81[ASN][1000 genomes]
rs6494976	0.80[ASN][1000 genomes]
rs7161909	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap]
rs7164646	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7165735	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs7171446	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7175907	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7177067	0.83[AFR][1000 genomes]
rs7178613	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7178876	0.87[AFR][1000 genomes]
rs8026894	1.00[ASW][hapmap];1.00[CEU][hapmap];0.80[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[EUR][1000 genomes]
rs8029218	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8032957	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8033997	0.80[ASN][1000 genomes]
rs8034436	0.80[ASN][1000 genomes]
rs8034722	0.80[ASN][1000 genomes]
rs8039245	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8182066	0.82[ASN][1000 genomes]
rs8192381	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs981695	0.80[ASN][1000 genomes]
rs9920148	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3331306	chr15:72049818-72427559	Strong transcription ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	esv3433206	chr15:72049838-72427529	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1042740	chr15:72128799-72482239	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv542426	chr15:72128799-72482239	Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
5	nsv431395	chr15:72266174-72701777	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
6	nsv833051	chr15:72315471-72508429	Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
7	nsv530817	chr15:72350885-72773374	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
8	nsv869747	chr15:72372245-72403103	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	esv3430860	chr15:72373723-72849907	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	172 gene(s)	inside rSNPs	diseases
10	nsv510665	chr15:72374862-72407548	ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
11	nsv511557	chr15:72386175-72408069	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
12	nsv569929	chr15:72386349-72403001	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:72367200-72407600	Weak transcription	Stomach Smooth Muscle	stomach
2	chr15:72372200-72399400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr15:72375000-72408200	Weak transcription	Primary B cells from cord blood	blood
4	chr15:72377800-72397600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr15:72379000-72407800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr15:72379800-72406200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr15:72380000-72407600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr15:72389400-72396400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr15:72389600-72403600	Weak transcription	Fetal Muscle Leg	muscle
10	chr15:72390400-72407600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr15:72391200-72404200	Weak transcription	HSMMtube	muscle
12	chr15:72391800-72401600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr15:72391800-72406600	Weak transcription	Ovary	ovary
14	chr15:72392600-72403000	Weak transcription	Fetal Intestine Small	intestine
15	chr15:72392600-72404000	Weak transcription	Fetal Stomach	stomach
16	chr15:72395000-72396600	Enhancers	Brain Cingulate Gyrus	brain
17	chr15:72395000-72396800	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr15:72395000-72397800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr15:72395000-72397800	Enhancers	Brain Angular Gyrus	brain
20	chr15:72395000-72397800	Enhancers	Duodenum Smooth Muscle	Duodenum
21	chr15:72395200-72399400	Weak transcription	Fetal Heart	heart
22	chr15:72395400-72396400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr15:72395600-72396400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr15:72395600-72396400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr15:72395600-72396400	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr15:72395600-72396400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr15:72395600-72396400	Enhancers	Brain Anterior Caudate	brain
28	chr15:72395600-72396400	Enhancers	Right Ventricle	heart
29	chr15:72395600-72396600	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr15:72395600-72396600	Enhancers	Adipose Nuclei	Adipose
31	chr15:72395600-72396600	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr15:72395600-72397200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr15:72395600-72397200	Enhancers	Fetal Lung	lung
34	chr15:72395600-72397200	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr15:72395800-72397000	Enhancers	Rectal Smooth Muscle	rectum
36	chr15:72395800-72397400	Weak transcription	Brain Hippocampus Middle	brain
37	chr15:72395800-72397400	Enhancers	Colon Smooth Muscle	Colon
38	chr15:72395800-72399000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr15:72395800-72407800	Weak transcription	HMEC	breast
40	chr15:72395800-72409000	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr15:72395800-72409200	Weak transcription	Gastric	stomach
42	chr15:72396000-72396400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
43	chr15:72396000-72396400	Weak transcription	Psoas Muscle	Psoas
44	chr15:72396000-72396600	Enhancers	Pancreatic Islets	Pancreatic Islet
45	chr15:72396000-72396800	Enhancers	Primary neutrophils fromperipheralblood	blood
46	chr15:72396000-72397600	Weak transcription	Pancreas	Pancrea
47	chr15:72396000-72397800	Enhancers	Brain Substantia Nigra	brain
48	chr15:72396000-72399000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr15:72396000-72399000	Weak transcription	Left Ventricle	heart
50	chr15:72396000-72399000	Weak transcription	Right Atrium	heart

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