Variant report

Variant	rs11071432
Chromosome Location	chr15:59663443-59663444
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:59660865-59666082	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr15:59663366-59667532	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr15:59662945-59663572	GM12878	blood:	n/a	n/a
4	POLR2A	chr15:59661541-59663928	GM12891	blood:	n/a	n/a
5	MXI1	chr15:59662297-59663539	SK-N-SH	brain:	n/a	n/a
6	MXI1	chr15:59662592-59665752	Hela-S3	cervix:	n/a	chr15:59664434-59664449
7	MAX	chr15:59662491-59665832	Hela-S3	cervix:	n/a	chr15:59664162-59664172 chr15:59664349-59664358 chr15:59664440-59664449 chr15:59664104-59664114
8	MXI1	chr15:59662993-59665996	IMR90	lung:	n/a	chr15:59664434-59664449
9	MYC	chr15:59663379-59663535	MCF10A-Er-Src	breast:	n/a	n/a
10	POLR2A	chr15:59660476-59665554	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:59662898..59664919-chr15:59728478..59730904,2	MCF-7	breast:
2	chr1:207494955..207495711-chr15:59663350..59664088,2	Hela-S3	cervix:
3	chr15:59567773..59570497-chr15:59662817..59664503,2	MCF-7	breast:

Variant related genes	Relation type
FAM81A	TF binding region
ENSG00000196352	Chromatin interaction
ENSG00000157470	Chromatin interaction

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10851653	0.99[ASN][1000 genomes]
rs11071429	0.83[AMR][1000 genomes]
rs11071431	0.83[AMR][1000 genomes]
rs11071433	0.99[ASN][1000 genomes]
rs11630796	0.85[ASN][1000 genomes]
rs11631146	0.98[ASN][1000 genomes]
rs11631451	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11632346	0.94[ASN][1000 genomes]
rs11634604	0.88[ASN][1000 genomes]
rs11635849	1.00[ASN][1000 genomes]
rs11637840	0.85[ASN][1000 genomes]
rs11639217	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11854356	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11854697	0.85[ASN][1000 genomes]
rs11855765	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11858264	0.88[ASN][1000 genomes]
rs11858313	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12050546	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12441388	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12442217	0.92[ASN][1000 genomes]
rs12593179	0.84[AMR][1000 genomes]
rs12593355	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12899138	1.00[ASN][1000 genomes]
rs12905793	0.85[ASN][1000 genomes]
rs12911676	0.90[ASN][1000 genomes]
rs1580426	0.84[ASN][1000 genomes]
rs16941337	0.83[AMR][1000 genomes]
rs16941369	0.95[ASN][1000 genomes]
rs17236585	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17302351	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2170895	0.85[ASN][1000 genomes]
rs28363891	0.86[ASN][1000 genomes]
rs28380572	0.85[ASN][1000 genomes]
rs28572451	0.87[ASN][1000 genomes]
rs4774327	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4775158	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59107240	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61692274	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62012550	0.92[ASN][1000 genomes]
rs6494101	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6494102	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6494105	1.00[ASN][1000 genomes]
rs66595425	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs66991143	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs67366717	0.81[AMR][1000 genomes]
rs67498027	0.85[ASN][1000 genomes]
rs7162228	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7163650	0.83[AMR][1000 genomes]
rs7164494	0.83[AMR][1000 genomes]
rs7168074	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7168263	0.84[AMR][1000 genomes]
rs7170390	0.83[AMR][1000 genomes]
rs7173362	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7177984	0.81[AMR][1000 genomes]
rs7178041	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73426976	0.83[AMR][1000 genomes]
rs8024396	0.90[ASN][1000 genomes]
rs8024879	0.90[ASN][1000 genomes]
rs8024906	0.90[ASN][1000 genomes]
rs8025242	0.88[ASN][1000 genomes]
rs8025360	0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8031423	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8033386	0.83[AMR][1000 genomes]
rs8039327	0.85[ASN][1000 genomes]
rs8041804	0.85[ASN][1000 genomes]
rs965929	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]

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	nsv527307	chr15:59103328-60018487	Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
2	nsv934082	chr15:59608605-59733211	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
3	nsv457175	chr15:59609753-59681214	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
4	nsv569603	chr15:59609753-59681214	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv471246	chr15:59610743-59681214	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
6	nsv904274	chr15:59623576-59689378	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
7	nsv904275	chr15:59648633-59726610	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	n/a
8	nsv904276	chr15:59648633-59743010	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	n/a
9	esv3342886	chr15:59663285-59665833	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:59660000-59663600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr15:59662000-59663600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr15:59662000-59666000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr15:59662200-59663600	Enhancers	Lung	lung
5	chr15:59662200-59663800	Enhancers	Spleen	Spleen
6	chr15:59662200-59665800	Active TSS	Skeletal Muscle Male	skeletal muscle
7	chr15:59662600-59663600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr15:59662600-59663600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
9	chr15:59662600-59663600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr15:59662600-59663600	Flanking Active TSS	Osteobl	bone
11	chr15:59662600-59663800	Flanking Active TSS	HUVEC	blood vessel
12	chr15:59662600-59664000	Flanking Active TSS	Adipose Nuclei	Adipose
13	chr15:59662600-59665800	Active TSS	NHLF	lung
14	chr15:59662600-59666000	Active TSS	Duodenum Smooth Muscle	Duodenum
15	chr15:59662600-59666000	Active TSS	Rectal Smooth Muscle	rectum
16	chr15:59662600-59666200	Active TSS	Colonic Mucosa	Colon
17	chr15:59662600-59666600	Active TSS	Rectal Mucosa Donor 29	rectum
18	chr15:59662600-59667600	Active TSS	GM12878-XiMat	blood
19	chr15:59662800-59663600	Transcr. at gene 5' and 3'	Hela-S3	cervix
20	chr15:59662800-59663600	Flanking Active TSS	NH-A	brain
21	chr15:59662800-59663800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr15:59662800-59665600	Active TSS	Fetal Intestine Large	intestine
23	chr15:59662800-59665800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr15:59662800-59665800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr15:59662800-59665800	Active TSS	Pancreatic Islets	Pancreatic Islet
26	chr15:59662800-59665800	Active TSS	Left Ventricle	heart
27	chr15:59662800-59666000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr15:59662800-59666000	Active TSS	Breast Myoepithelial Primary Cells	Breast
29	chr15:59662800-59666200	Active TSS	Fetal Intestine Small	intestine
30	chr15:59663000-59663600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
31	chr15:59663000-59663600	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
32	chr15:59663000-59663600	Flanking Active TSS	Brain Substantia Nigra	brain
33	chr15:59663000-59663600	Weak transcription	Esophagus	oesophagus
34	chr15:59663000-59663800	Flanking Active TSS	Brain Hippocampus Middle	brain
35	chr15:59663000-59664000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
36	chr15:59663000-59664000	Flanking Active TSS	Primary B cells from cord blood	blood
37	chr15:59663000-59664200	Flanking Active TSS	Fetal Brain Female	brain
38	chr15:59663000-59664400	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr15:59663000-59664600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
40	chr15:59663000-59665400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr15:59663000-59665600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr15:59663000-59665800	Active TSS	Brain Angular Gyrus	brain
43	chr15:59663000-59665800	Active TSS	Right Atrium	heart
44	chr15:59663000-59665800	Active TSS	HSMMtube	muscle
45	chr15:59663000-59665800	Active TSS	NHDF-Ad	bronchial
46	chr15:59663000-59666000	Active TSS	H9 Cell Line	embryonic stem cell
47	chr15:59663000-59666000	Active TSS	Aorta	Aorta
48	chr15:59663000-59666200	Active TSS	Duodenum Mucosa	Duodenum
49	chr15:59663200-59663600	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
50	chr15:59663200-59663600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood

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