Variant report

Variant	rs11070904
Chromosome Location	chr15:52884601-52884602
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:52877014..52878683-chr15:52883168..52885668,2	K562	blood:
2	chr15:52585664..52588614-chr15:52884173..52886490,2	MCF-7	breast:
3	chr15:52874167..52876909-chr15:52882421..52884748,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000128833	Chromatin interaction
ENSG00000047346	Chromatin interaction
ENSG00000260618	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10775148	1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10775149	0.82[CEU][hapmap]
rs11070910	1.00[CEU][hapmap]
rs11629479	1.00[CEU][hapmap]
rs11631688	0.83[AFR][1000 genomes]
rs11634879	1.00[CEU][hapmap];1.00[GIH][hapmap];0.86[MEX][hapmap];0.90[MKK][hapmap];0.95[TSI][hapmap]
rs12900462	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap]
rs12908944	0.85[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs12916276	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12916405	1.00[CEU][hapmap]
rs2414162	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2414164	0.84[ASW][hapmap];0.86[MEX][hapmap];0.95[TSI][hapmap]
rs2414165	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs2414169	1.00[CEU][hapmap]
rs2414170	1.00[CEU][hapmap]
rs2414171	0.85[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.86[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap]
rs2414174	0.85[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.82[EUR][1000 genomes]
rs2414176	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs2414177	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs35760898	0.85[EUR][1000 genomes]
rs4386077	0.85[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.86[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap]
rs4404000	1.00[CEU][hapmap]
rs4562994	0.88[AFR][1000 genomes]
rs4774635	1.00[CEU][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4776064	1.00[CEU][hapmap]
rs6493570	1.00[CEU][hapmap]
rs7166478	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7168045	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7179310	1.00[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs8032889	1.00[CEU][hapmap]
rs8036671	1.00[CEU][hapmap];0.80[YRI][hapmap];0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs8036680	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.92[LWK][hapmap];0.85[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs8040787	1.00[CEU][hapmap];1.00[GIH][hapmap];0.86[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap]
rs8042646	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs933858	1.00[CEU][hapmap]
rs933859	1.00[CEU][hapmap]
rs9806267	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[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	nsv471245	chr15:52607262-53187165	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	nsv1041421	chr15:52661342-53148286	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	esv1832020	chr15:52702400-52901914	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv1047775	chr15:52822050-52912228	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
5	nsv833006	chr15:52825954-53040462	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:52861200-52925200	Weak transcription	Stomach Mucosa	stomach
2	chr15:52861600-52885000	Weak transcription	Spleen	Spleen
3	chr15:52861600-52901600	Weak transcription	Esophagus	oesophagus
4	chr15:52861800-52890600	Weak transcription	Fetal Kidney	kidney
5	chr15:52861800-52896800	Weak transcription	Hela-S3	cervix
6	chr15:52861800-52901600	Weak transcription	A549	lung
7	chr15:52861800-52908400	Weak transcription	Gastric	stomach
8	chr15:52861800-52934800	Weak transcription	Right Ventricle	heart
9	chr15:52862000-52901600	Weak transcription	Brain Angular Gyrus	brain
10	chr15:52866400-52889800	Weak transcription	Pancreas	Pancrea
11	chr15:52869200-52890200	Weak transcription	Aorta	Aorta
12	chr15:52869400-52895000	Weak transcription	Fetal Heart	heart
13	chr15:52869400-52945400	Weak transcription	Small Intestine	intestine
14	chr15:52869800-52900000	Strong transcription	Primary B cells from cord blood	blood
15	chr15:52870200-52905000	Weak transcription	HMEC	breast
16	chr15:52871200-52890400	Weak transcription	GM12878-XiMat	blood
17	chr15:52871200-52901600	Weak transcription	Dnd41	blood
18	chr15:52871800-52902200	Weak transcription	Fetal Brain Male	brain
19	chr15:52871800-52967600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr15:52872000-52900200	Strong transcription	Primary B cells from peripheral blood	blood
21	chr15:52872200-52933800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr15:52872400-52897800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr15:52872600-52890200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr15:52872600-52891000	Weak transcription	HUVEC	blood vessel
25	chr15:52872600-52920800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr15:52873400-52928000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr15:52873600-52885000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr15:52873600-52898800	Strong transcription	Adipose Nuclei	Adipose
29	chr15:52873800-52909600	Strong transcription	Rectal Mucosa Donor 31	rectum
30	chr15:52874200-52900000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr15:52874200-52917000	Strong transcription	Primary T helper cells fromperipheralblood	blood
32	chr15:52874800-52893200	Strong transcription	Duodenum Mucosa	Duodenum
33	chr15:52874800-52901200	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr15:52874800-52944200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr15:52875400-52916200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr15:52875800-52894800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr15:52876200-52887200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr15:52877200-52886800	Weak transcription	HSMM	muscle
39	chr15:52878200-52909600	Strong transcription	Liver	Liver
40	chr15:52878600-52887600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr15:52878600-52898400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr15:52879400-52885000	Weak transcription	Rectal Smooth Muscle	rectum
43	chr15:52879400-52885200	Weak transcription	NHDF-Ad	bronchial
44	chr15:52879400-52895800	Weak transcription	Colonic Mucosa	Colon
45	chr15:52880800-52887200	Strong transcription	Brain Anterior Caudate	brain
46	chr15:52880800-52898000	Strong transcription	Duodenum Smooth Muscle	Duodenum
47	chr15:52881000-52886000	Strong transcription	Fetal Intestine Large	intestine
48	chr15:52881200-52886200	Strong transcription	Skeletal Muscle Female	skeletal muscle
49	chr15:52881400-52901600	Weak transcription	Psoas Muscle	Psoas
50	chr15:52882000-52886000	Strong transcription	Left Ventricle	heart

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