Variant report

Variant	rs2235391
Chromosome Location	chr6:11764205-11764206
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	chr6:11763055..11764666-chr6:11765801..11768544,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000111863	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs12175671	0.85[YRI][hapmap]
rs12529085	0.85[CEU][hapmap];0.92[LWK][hapmap];1.00[MKK][hapmap];0.85[YRI][hapmap];0.86[EUR][1000 genomes]
rs2076185	0.92[LWK][hapmap]
rs2076186	0.85[YRI][hapmap]
rs2235395	0.92[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.85[YRI][hapmap];0.88[AFR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2235406	0.85[CEU][hapmap];0.84[LWK][hapmap];0.85[YRI][hapmap];0.88[EUR][1000 genomes]
rs2235410	0.85[CEU][hapmap];0.88[EUR][1000 genomes]
rs2235412	0.87[EUR][1000 genomes]
rs2235415	0.85[YRI][hapmap]
rs2235416	0.85[YRI][hapmap]
rs2235426	0.85[YRI][hapmap]
rs2281127	0.92[LWK][hapmap];0.85[YRI][hapmap]
rs2294418	0.82[ASW][hapmap];0.85[CEU][hapmap];0.92[LWK][hapmap];1.00[MKK][hapmap];0.85[YRI][hapmap];0.87[EUR][1000 genomes]
rs2294420	0.88[EUR][1000 genomes]
rs9368869	1.00[CEU][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9380512	0.84[ASW][hapmap];1.00[CEU][hapmap];0.86[CHD][hapmap];0.96[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9380513	0.92[CEU][hapmap];0.86[CHB][hapmap];0.87[JPT][hapmap];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9394301	0.92[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9394302	0.85[CEU][hapmap];0.86[CHB][hapmap];0.91[CHD][hapmap];0.91[JPT][hapmap];0.82[TSI][hapmap];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9470042	0.81[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758036	chr6:11679753-11822351	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv2759407	chr6:11679753-11822351	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:11755800-11768400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr6:11759000-11765800	Enhancers	Fetal Intestine Large	intestine
3	chr6:11759200-11764400	Enhancers	Stomach Mucosa	stomach
4	chr6:11759200-11765600	Enhancers	Fetal Intestine Small	intestine
5	chr6:11759400-11769600	Weak transcription	Lung	lung
6	chr6:11759600-11765000	Enhancers	Duodenum Mucosa	Duodenum
7	chr6:11759600-11765800	Weak transcription	Hela-S3	cervix
8	chr6:11759800-11764400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr6:11760400-11765800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr6:11760600-11766000	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr6:11760600-11770600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr6:11761600-11765800	Weak transcription	K562	blood
13	chr6:11762000-11764400	Enhancers	NHEK	skin
14	chr6:11762000-11764600	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr6:11762000-11767200	Enhancers	HSMMtube	muscle
16	chr6:11762200-11764400	Enhancers	Placenta Amnion	Placenta Amnion
17	chr6:11762200-11764600	Enhancers	Fetal Lung	lung
18	chr6:11762200-11764600	Enhancers	NH-A	brain
19	chr6:11762400-11764400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr6:11762400-11764400	Enhancers	HSMM	muscle
21	chr6:11762400-11764600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr6:11762400-11764600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr6:11762400-11765400	Enhancers	Aorta	Aorta
24	chr6:11762400-11768200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr6:11762600-11767200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr6:11762600-11770600	Weak transcription	Spleen	Spleen
27	chr6:11762800-11764400	Weak transcription	A549	lung
28	chr6:11762800-11764600	Enhancers	Muscle Satellite Cultured Cells	--
29	chr6:11762800-11764600	Enhancers	Rectal Smooth Muscle	rectum
30	chr6:11763000-11764400	Enhancers	Duodenum Smooth Muscle	Duodenum
31	chr6:11763000-11764400	Enhancers	Rectal Mucosa Donor 31	rectum
32	chr6:11763000-11764600	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr6:11763000-11764800	Enhancers	Colon Smooth Muscle	Colon
34	chr6:11763000-11766000	Genic enhancers	HMEC	breast
35	chr6:11763000-11768000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr6:11763000-11769200	Weak transcription	Colonic Mucosa	Colon
37	chr6:11763200-11764400	Enhancers	Left Ventricle	heart
38	chr6:11763200-11764400	Enhancers	Rectal Mucosa Donor 29	rectum
39	chr6:11763200-11764600	Enhancers	Pancreas	Pancrea
40	chr6:11763200-11773400	Enhancers	HUVEC	blood vessel
41	chr6:11763400-11764400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr6:11763400-11764400	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr6:11763400-11764400	Enhancers	Fetal Stomach	stomach
44	chr6:11763400-11764600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr6:11763400-11765800	Weak transcription	NHDF-Ad	bronchial
46	chr6:11763400-11766000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr6:11763600-11764400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr6:11763600-11764400	Enhancers	Adipose Nuclei	Adipose
49	chr6:11763600-11764400	Enhancers	Esophagus	oesophagus
50	chr6:11763600-11764400	Enhancers	Right Atrium	heart

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