Variant report

Variant	rs16953747
Chromosome Location	chr15:72140563-72140564
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	chr15:72138309..72141068-chr15:72175580..72177408,2	MCF-7	breast:

Extended variants
information (count: 85 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs11072341	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11072343	0.81[EUR][1000 genomes]
rs1120002	0.90[EUR][1000 genomes]
rs11856068	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12437582	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12438532	0.81[EUR][1000 genomes]
rs12439689	0.86[EUR][1000 genomes]
rs12439773	0.86[EUR][1000 genomes]
rs12440299	0.81[EUR][1000 genomes]
rs12441470	0.81[EUR][1000 genomes]
rs12441567	0.81[EUR][1000 genomes]
rs12441622	0.81[EUR][1000 genomes]
rs12443127	0.81[EUR][1000 genomes]
rs12592806	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12593857	0.81[EUR][1000 genomes]
rs12593946	0.81[EUR][1000 genomes]
rs1471688	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1545825	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1598714	0.81[AFR][1000 genomes]
rs16956539	0.81[EUR][1000 genomes]
rs1805020	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1805021	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1871834	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1905337	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1979459	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2277544	1.00[CEU][hapmap];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2291279	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2306575	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2415124	0.96[AFR][1000 genomes]
rs2415125	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2415129	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2625526	0.85[ASN][1000 genomes]
rs2723357	0.95[AFR][1000 genomes]
rs2742321	0.93[AFR][1000 genomes]
rs28639924	0.86[EUR][1000 genomes]
rs28653163	0.86[EUR][1000 genomes]
rs28658271	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28701834	0.81[EUR][1000 genomes]
rs2899774	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2929514	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2929515	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2929521	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2929522	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2929530	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2929531	1.00[JPT][hapmap];0.95[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2929533	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2957367	0.81[AFR][1000 genomes]
rs2957369	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2957726	0.85[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2957729	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2957730	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2957733	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2957741	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2957747	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2957748	0.84[EUR][1000 genomes]
rs2957749	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs35696756	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35773391	0.81[EUR][1000 genomes]
rs3759812	0.81[EUR][1000 genomes]
rs3825869	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4511484	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4776583	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4777472	0.82[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs6494976	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6494987	0.80[AFR][1000 genomes]
rs7162134	0.82[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs7164646	0.81[EUR][1000 genomes]
rs7172281	0.85[AMR][1000 genomes]
rs8031658	0.81[AFR][1000 genomes]
rs8032957	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8033997	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8034436	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8034722	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8039245	0.81[EUR][1000 genomes]
rs8182066	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs981695	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9920148	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv904334	chr15:71737376-72177659	Strong transcription Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1036938	chr15:71948106-72272855	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	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
4	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
5	nsv569906	chr15:72126034-72218036	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
6	nsv516871	chr15:72126034-72325595	Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
7	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
8	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

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:72114600-72190600	Weak transcription	Pancreas	Pancrea
2	chr15:72115800-72147000	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr15:72116000-72140800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr15:72116000-72142000	Weak transcription	Hela-S3	cervix
5	chr15:72116400-72147000	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr15:72117000-72142800	Weak transcription	Stomach Mucosa	stomach
7	chr15:72119200-72171800	Weak transcription	Psoas Muscle	Psoas
8	chr15:72119400-72142400	Weak transcription	Fetal Thymus	thymus
9	chr15:72119800-72140800	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr15:72119800-72142200	Weak transcription	Spleen	Spleen
11	chr15:72120400-72142400	Weak transcription	GM12878-XiMat	blood
12	chr15:72120600-72147400	Weak transcription	Small Intestine	intestine
13	chr15:72120800-72142200	Weak transcription	Colonic Mucosa	Colon
14	chr15:72122200-72189400	Weak transcription	Right Ventricle	heart
15	chr15:72122400-72141800	Weak transcription	NH-A	brain
16	chr15:72122400-72142200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr15:72122400-72195000	Weak transcription	NHEK	skin
18	chr15:72122600-72140800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr15:72122600-72140800	Weak transcription	Brain Substantia Nigra	brain
20	chr15:72122600-72141000	Weak transcription	Primary hematopoietic stem cells	blood
21	chr15:72122600-72141200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr15:72122600-72142200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr15:72122600-72142200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr15:72122600-72142200	Weak transcription	Lung	lung
25	chr15:72122600-72144600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr15:72122600-72145600	Weak transcription	Thymus	Thymus
27	chr15:72122600-72171800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr15:72122600-72185200	Weak transcription	Esophagus	oesophagus
29	chr15:72122600-72195800	Weak transcription	Gastric	stomach
30	chr15:72122800-72141400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr15:72122800-72142200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr15:72124800-72145800	Weak transcription	Fetal Heart	heart
33	chr15:72129200-72148000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr15:72131200-72148200	Strong transcription	Placenta	Placenta
35	chr15:72131600-72147000	Strong transcription	Fetal Muscle Leg	muscle
36	chr15:72131800-72192800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr15:72132000-72142000	Weak transcription	Aorta	Aorta
38	chr15:72132000-72145000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr15:72132200-72142200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr15:72134000-72149000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
41	chr15:72135200-72141400	Strong transcription	Muscle Satellite Cultured Cells	--
42	chr15:72135200-72143200	Strong transcription	Rectal Mucosa Donor 29	rectum
43	chr15:72135200-72146600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr15:72135200-72147600	Strong transcription	Primary T cells from cord blood	blood
45	chr15:72135600-72143800	Strong transcription	Brain Germinal Matrix	brain
46	chr15:72136000-72142800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr15:72136200-72141400	Weak transcription	Fetal Stomach	stomach
48	chr15:72136200-72141600	Weak transcription	Fetal Intestine Small	intestine
49	chr15:72136200-72148400	Strong transcription	Primary B cells from peripheral blood	blood
50	chr15:72136200-72148400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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