Variant report

Variant	rs9380512
Chromosome Location	chr6:11765834-11765835
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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[MEX][hapmap];0.85[YRI][hapmap];0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2076185	0.92[LWK][hapmap]
rs2076186	0.85[YRI][hapmap]
rs2235391	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]
rs2235395	0.92[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2235406	0.85[CEU][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.85[YRI][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2235410	0.85[CEU][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2235412	1.00[MEX][hapmap];0.88[EUR][1000 genomes]
rs2235415	0.85[YRI][hapmap]
rs2235416	0.85[YRI][hapmap]
rs2235426	0.85[YRI][hapmap]
rs2281127	0.92[LWK][hapmap];0.91[MKK][hapmap];0.85[YRI][hapmap]
rs2294418	1.00[ASW][hapmap];0.85[CEU][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.85[YRI][hapmap];0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2294420	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9348976	0.87[CHD][hapmap]
rs9368869	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9380513	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	0.92[CEU][hapmap];0.87[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9394302	0.84[ASW][hapmap];0.85[CEU][hapmap];0.82[CHB][hapmap];0.95[CHD][hapmap];0.83[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]

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:68 , 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	chr6:11759400-11769600	Weak transcription	Lung	lung
3	chr6:11760600-11766000	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr6:11760600-11770600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr6:11762000-11767200	Enhancers	HSMMtube	muscle
6	chr6:11762400-11768200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr6:11762600-11767200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr6:11762600-11770600	Weak transcription	Spleen	Spleen
9	chr6:11763000-11766000	Genic enhancers	HMEC	breast
10	chr6:11763000-11768000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr6:11763000-11769200	Weak transcription	Colonic Mucosa	Colon
12	chr6:11763200-11773400	Enhancers	HUVEC	blood vessel
13	chr6:11763400-11766000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr6:11763800-11766200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr6:11764000-11766200	Weak transcription	Ovary	ovary
16	chr6:11764400-11766000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr6:11764400-11766000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr6:11764400-11766200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr6:11764400-11766200	Weak transcription	Adipose Nuclei	Adipose
20	chr6:11764400-11766200	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr6:11764400-11766200	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr6:11764400-11766200	Enhancers	A549	lung
23	chr6:11764400-11766800	Weak transcription	Fetal Stomach	stomach
24	chr6:11764400-11767000	Weak transcription	Stomach Mucosa	stomach
25	chr6:11764400-11767600	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr6:11764400-11770600	Weak transcription	Esophagus	oesophagus
27	chr6:11764400-11770600	Weak transcription	Left Ventricle	heart
28	chr6:11764400-11770600	Weak transcription	Right Atrium	heart
29	chr6:11764600-11766400	Weak transcription	Gastric	stomach
30	chr6:11764600-11766600	Weak transcription	Fetal Lung	lung
31	chr6:11764600-11766600	Weak transcription	Rectal Smooth Muscle	rectum
32	chr6:11764600-11766800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr6:11764800-11766200	Weak transcription	Colon Smooth Muscle	Colon
34	chr6:11764800-11769600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr6:11764800-11769600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr6:11765000-11766400	Enhancers	Muscle Satellite Cultured Cells	--
37	chr6:11765000-11766600	Weak transcription	Duodenum Mucosa	Duodenum
38	chr6:11765000-11769000	Weak transcription	Small Intestine	intestine
39	chr6:11765000-11770600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr6:11765200-11767800	Enhancers	NHEK	skin
41	chr6:11765200-11768200	Strong transcription	Rectal Mucosa Donor 31	rectum
42	chr6:11765400-11766200	Weak transcription	Aorta	Aorta
43	chr6:11765400-11766200	Weak transcription	Stomach Smooth Muscle	stomach
44	chr6:11765400-11768400	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr6:11765600-11766000	Genic enhancers	Fetal Intestine Small	intestine
46	chr6:11765600-11768200	Strong transcription	Rectal Mucosa Donor 29	rectum
47	chr6:11765800-11766000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr6:11765800-11766200	Weak transcription	Fetal Intestine Large	intestine
49	chr6:11765800-11766400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr6:11765800-11766600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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