Variant report

Variant	rs9380513
Chromosome Location	chr6:11770103-11770104
allele	A/C
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	chr6:11769556-11773164	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr6:11768296-11772928	HUVEC	blood vessel:	n/a	n/a
3	POLR2A	chr6:11770029-11772460	HUVEC	blood vessel:	n/a	n/a
4	POLR2A	chr6:11769228-11773136	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:11766846..11771135-chr6:12008831..12011747,3	K562	blood:

Variant related genes	Relation type
ADTRP	TF binding region
ENSG00000095951	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs12175671	0.87[YRI][hapmap]
rs12529085	0.92[CEU][hapmap];0.85[YRI][hapmap];0.87[EUR][1000 genomes]
rs2076186	0.85[YRI][hapmap]
rs2235391	0.92[CEU][hapmap];0.86[CHB][hapmap];0.87[JPT][hapmap];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2235395	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.87[YRI][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2235406	0.92[CEU][hapmap];0.85[YRI][hapmap];0.89[EUR][1000 genomes]
rs2235410	0.92[CEU][hapmap];0.89[EUR][1000 genomes]
rs2235412	0.85[CEU][hapmap];0.88[EUR][1000 genomes]
rs2235415	0.87[YRI][hapmap]
rs2235416	0.87[YRI][hapmap]
rs2235426	0.87[YRI][hapmap]
rs2281127	0.85[YRI][hapmap]
rs2294418	0.92[CEU][hapmap];0.85[YRI][hapmap];0.88[EUR][1000 genomes]
rs2294420	0.89[EUR][1000 genomes]
rs9368869	0.92[CEU][hapmap];0.82[CHB][hapmap];0.91[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9380512	0.92[CEU][hapmap];0.82[CHB][hapmap];0.91[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9394301	1.00[CEU][hapmap];0.96[CHB][hapmap];0.96[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9394302	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
3	nsv522039	chr6:11769280-11771259	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:11760600-11770600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr6:11762600-11770600	Weak transcription	Spleen	Spleen
3	chr6:11763200-11773400	Enhancers	HUVEC	blood vessel
4	chr6:11764400-11770600	Weak transcription	Esophagus	oesophagus
5	chr6:11764400-11770600	Weak transcription	Left Ventricle	heart
6	chr6:11764400-11770600	Weak transcription	Right Atrium	heart
7	chr6:11765000-11770600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr6:11765800-11770200	Enhancers	Hela-S3	cervix
9	chr6:11765800-11770600	Enhancers	HSMM	muscle
10	chr6:11765800-11770600	Enhancers	Osteobl	bone
11	chr6:11765800-11773000	Enhancers	NH-A	brain
12	chr6:11765800-11773600	Enhancers	NHDF-Ad	bronchial
13	chr6:11765800-11773600	Enhancers	NHLF	lung
14	chr6:11766000-11770800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr6:11766200-11770800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr6:11766600-11770800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr6:11766800-11770600	Enhancers	Muscle Satellite Cultured Cells	--
18	chr6:11766800-11771800	Enhancers	Fetal Intestine Small	intestine
19	chr6:11766800-11773000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr6:11767000-11771800	Enhancers	Stomach Mucosa	stomach
21	chr6:11767200-11770600	Weak transcription	Rectal Smooth Muscle	rectum
22	chr6:11767200-11770800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr6:11767400-11770400	Weak transcription	Adipose Nuclei	Adipose
24	chr6:11767400-11770600	Weak transcription	Fetal Lung	lung
25	chr6:11767600-11770400	Weak transcription	Pancreas	Pancrea
26	chr6:11767600-11771000	Enhancers	HSMMtube	muscle
27	chr6:11767600-11771200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr6:11767800-11770200	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr6:11767800-11770400	Enhancers	Duodenum Mucosa	Duodenum
30	chr6:11767800-11770800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr6:11768000-11770200	Weak transcription	Colon Smooth Muscle	Colon
32	chr6:11768000-11770400	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr6:11768000-11770400	Weak transcription	Stomach Smooth Muscle	stomach
34	chr6:11768000-11770600	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr6:11768200-11770200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr6:11768400-11770800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr6:11768400-11771000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr6:11768400-11772000	Enhancers	Fetal Intestine Large	intestine
39	chr6:11768600-11770600	Enhancers	Rectal Mucosa Donor 31	rectum
40	chr6:11768600-11771400	Weak transcription	Aorta	Aorta
41	chr6:11768600-11774200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr6:11768800-11770200	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr6:11768800-11770600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr6:11769000-11770400	Enhancers	K562	blood
45	chr6:11769000-11772600	Enhancers	Small Intestine	intestine
46	chr6:11769200-11770400	Enhancers	Colonic Mucosa	Colon
47	chr6:11769200-11770400	Weak transcription	Fetal Stomach	stomach
48	chr6:11769200-11770600	Enhancers	Rectal Mucosa Donor 29	rectum
49	chr6:11769200-11770800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr6:11769200-11770800	Weak transcription	Psoas Muscle	Psoas

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