Variant report

Variant	rs4476147
Chromosome Location	chr15:39918678-39918679
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:39887137..39895767-chr15:39912868..39924962,20	MCF-7	breast:
2	chr15:39913171..39923947-chr15:39954798..39966806,32	MCF-7	breast:

Variant related genes	Relation type
ENSG00000150667	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs1004739	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];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1004740	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];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1004741	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10520135	0.87[CEU][hapmap]
rs10520137	1.00[CEU][hapmap]
rs11070220	1.00[CEU][hapmap]
rs11070222	1.00[CEU][hapmap]
rs11070223	1.00[CEU][hapmap]
rs11070225	1.00[CEU][hapmap]
rs1134485	1.00[CEU][hapmap]
rs11630406	1.00[CEU][hapmap]
rs11631570	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
rs11632879	1.00[CEU][hapmap]
rs11633974	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11635103	1.00[CEU][hapmap]
rs11638041	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs11638500	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11852591	1.00[CEU][hapmap]
rs11852649	1.00[CEU][hapmap]
rs11854797	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs11856294	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11856448	1.00[ASW][hapmap];0.88[CHB][hapmap];0.85[CHD][hapmap]
rs11856971	1.00[CEU][hapmap]
rs11857819	1.00[CEU][hapmap]
rs11857927	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12908846	1.00[CEU][hapmap]
rs12912082	1.00[CEU][hapmap]
rs16969386	1.00[CEU][hapmap]
rs16969410	1.00[CEU][hapmap]
rs16969445	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16969459	1.00[CEU][hapmap]
rs16969460	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16969475	1.00[CEU][hapmap];0.83[GIH][hapmap];0.82[TSI][hapmap]
rs16969478	1.00[CEU][hapmap];0.86[GIH][hapmap];0.86[TSI][hapmap]
rs16969495	0.89[CHB][hapmap]
rs16969637	1.00[ASW][hapmap];0.89[CHB][hapmap];0.85[CHD][hapmap];1.00[LWK][hapmap];0.88[MEX][hapmap]
rs16969640	0.89[CHB][hapmap];0.85[CHD][hapmap]
rs1876853	1.00[CEU][hapmap];0.83[GIH][hapmap];0.88[MEX][hapmap];0.86[TSI][hapmap]
rs2228261	1.00[CEU][hapmap]
rs2292304	0.82[JPT][hapmap]
rs2292305	1.00[CEU][hapmap]
rs2411312	0.90[TSI][hapmap];0.84[EUR][1000 genomes]
rs2411313	1.00[CEU][hapmap]
rs2412409	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2412410	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2412411	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2412413	1.00[CEU][hapmap];0.83[GIH][hapmap];0.88[MEX][hapmap];0.86[TSI][hapmap]
rs2412415	1.00[CEU][hapmap]
rs2412417	1.00[CEU][hapmap]
rs2412419	1.00[CEU][hapmap]
rs2898686	1.00[CEU][hapmap]
rs2898687	1.00[CEU][hapmap];0.83[GIH][hapmap];0.88[MEX][hapmap];0.86[TSI][hapmap]
rs2898688	1.00[CEU][hapmap]
rs34275067	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35754803	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3784390	1.00[CEU][hapmap];0.82[GIH][hapmap];0.82[JPT][hapmap];1.00[MKK][hapmap];0.89[TSI][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4349120	1.00[CEU][hapmap]
rs4547308	1.00[CEU][hapmap]
rs4583211	1.00[CEU][hapmap]
rs56722485	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57969006	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58332880	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60884629	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7162070	1.00[CEU][hapmap];0.83[GIH][hapmap];0.88[MEX][hapmap];0.86[TSI][hapmap]
rs7162781	1.00[CEU][hapmap];0.83[GIH][hapmap];0.88[MEX][hapmap];0.86[TSI][hapmap]
rs7167184	1.00[CEU][hapmap]
rs7168755	1.00[CEU][hapmap]
rs7169478	1.00[CEU][hapmap]
rs7169574	1.00[CEU][hapmap]
rs72725045	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs753599	1.00[CEU][hapmap]
rs8029602	1.00[CEU][hapmap];0.83[GIH][hapmap];0.88[MEX][hapmap];0.86[TSI][hapmap]
rs8032035	1.00[CEU][hapmap]
rs8036376	0.88[CEU][hapmap]
rs8036633	0.88[CEU][hapmap]
rs884584	1.00[CEU][hapmap];0.83[GIH][hapmap];0.88[MEX][hapmap];0.86[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049682	chr15:39657279-40027403	Enhancers Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv542361	chr15:39657279-40027403	Weak transcription Strong transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	esv3373125	chr15:39691567-40061262	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv904094	chr15:39738006-39976057	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv832977	chr15:39817512-39981520	Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv1048628	chr15:39877498-39940104	Enhancers Genic enhancers Strong transcription ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
7	nsv1502	chr15:39884314-39928968	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
8	nsv832978	chr15:39899759-40094881	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
9	esv2753725	chr15:39918678-39921167	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	2 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	chr15:39913200-39924000	Enhancers	Rectal Mucosa Donor 31	rectum
2	chr15:39913400-39921000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
3	chr15:39913400-39922400	Enhancers	Fetal Intestine Large	intestine
4	chr15:39913400-39923800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr15:39914000-39922800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr15:39914200-39922600	Enhancers	Primary T killer memory cells from peripheral blood	blood
7	chr15:39914600-39922800	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr15:39914600-39923600	Enhancers	Primary T helper naive cells from peripheral blood	blood
9	chr15:39914600-39923600	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr15:39914600-39923800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr15:39914800-39923800	Enhancers	Primary T cells fromperipheralblood	blood
12	chr15:39915400-39918800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
13	chr15:39915800-39918800	Enhancers	HUVEC	blood vessel
14	chr15:39916000-39918800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr15:39916000-39920000	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr15:39916000-39922200	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr15:39916000-39924000	Enhancers	HMEC	breast
18	chr15:39916200-39918800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr15:39916200-39920800	Enhancers	Spleen	Spleen
20	chr15:39916200-39921000	Weak transcription	Thymus	Thymus
21	chr15:39916200-39922200	Enhancers	Left Ventricle	heart
22	chr15:39916200-39923400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr15:39916400-39937800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr15:39916600-39918800	Enhancers	NHDF-Ad	bronchial
25	chr15:39916600-39919600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr15:39916600-39921000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr15:39916800-39921600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
28	chr15:39916800-39921800	Enhancers	Right Ventricle	heart
29	chr15:39917000-39920400	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr15:39917400-39923800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
31	chr15:39917600-39919800	Enhancers	Fetal Heart	heart
32	chr15:39917600-39920200	Weak transcription	Aorta	Aorta
33	chr15:39917600-39920400	Weak transcription	Psoas Muscle	Psoas
34	chr15:39917600-39920800	Weak transcription	Colon Smooth Muscle	Colon
35	chr15:39917600-39921000	Weak transcription	Primary hematopoietic stem cells	blood
36	chr15:39917600-39921600	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr15:39917600-39926200	Weak transcription	Esophagus	oesophagus
38	chr15:39917800-39920000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr15:39917800-39920000	Weak transcription	Placenta	Placenta
40	chr15:39917800-39920200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr15:39917800-39920200	Weak transcription	Liver	Liver
42	chr15:39917800-39920400	Weak transcription	HSMM	muscle
43	chr15:39917800-39920800	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr15:39917800-39921200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr15:39918000-39919400	Weak transcription	Fetal Muscle Leg	muscle
46	chr15:39918000-39919400	Weak transcription	Lung	lung
47	chr15:39918000-39919400	Weak transcription	Small Intestine	intestine
48	chr15:39918000-39919800	Weak transcription	Colonic Mucosa	Colon
49	chr15:39918000-39920000	Weak transcription	Stomach Smooth Muscle	stomach
50	chr15:39918000-39920200	Weak transcription	Fetal Thymus	thymus

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