Variant report

Variant	rs9403852
Chromosome Location	chr6:147684318-147684319
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	chr6:147674142..147676430-chr6:147682128..147684419,2	K562	blood:
2	chr6:147674544..147676430-chr6:147682128..147684379,2	K562	blood:

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs1039083	0.89[EUR][1000 genomes]
rs1039085	0.89[EUR][1000 genomes]
rs1147844	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1147845	0.86[EUR][1000 genomes]
rs1496031	0.85[TSI][hapmap]
rs1496033	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1496034	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1660687	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2047286	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2068111	0.89[EUR][1000 genomes]
rs2119490	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2218221	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2328813	0.90[EUR][1000 genomes]
rs2582925	0.87[EUR][1000 genomes]
rs2786184	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2850177	0.88[EUR][1000 genomes]
rs2850178	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs474990	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs486867	0.87[EUR][1000 genomes]
rs4896904	0.90[EUR][1000 genomes]
rs4896905	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4896906	0.95[EUR][1000 genomes]
rs4896907	0.85[EUR][1000 genomes]
rs4896908	0.97[EUR][1000 genomes]
rs533201	0.81[GIH][hapmap];0.87[MEX][hapmap];0.87[TSI][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs577877	0.84[EUR][1000 genomes]
rs582437	0.91[CHB][hapmap]
rs588273	0.85[EUR][1000 genomes]
rs58987334	0.85[EUR][1000 genomes]
rs598038	0.89[EUR][1000 genomes]
rs608147	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs617975	0.87[EUR][1000 genomes]
rs619175	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs664203	0.86[EUR][1000 genomes]
rs7748995	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9373523	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9390458	0.92[CEU][hapmap];0.93[GIH][hapmap];0.93[TSI][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9390459	0.83[EUR][1000 genomes]
rs9390461	0.88[ASN][1000 genomes]
rs9390462	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9399598	0.82[TSI][hapmap];0.90[EUR][1000 genomes]
rs9497759	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs995697	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv886752	chr6:147443480-147729477	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv470864	chr6:147539165-147709179	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv886754	chr6:147539165-147729477	Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv604840	chr6:147539165-147730324	Strong transcription Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	esv1832155	chr6:147554900-147715464	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
6	nsv886755	chr6:147577646-147729477	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
7	nsv886756	chr6:147580697-147729477	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
8	nsv830839	chr6:147584914-147757264	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
9	nsv886757	chr6:147591022-147729477	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
10	nsv1016430	chr6:147662541-147711882	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
11	nsv1022283	chr6:147663541-147700720	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:147584400-147684600	Weak transcription	Brain Angular Gyrus	brain
2	chr6:147607400-147707400	Weak transcription	Colon Smooth Muscle	Colon
3	chr6:147610200-147700200	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr6:147619200-147690200	Weak transcription	Fetal Heart	heart
5	chr6:147622600-147708200	Weak transcription	Psoas Muscle	Psoas
6	chr6:147626000-147687000	Weak transcription	Lung	lung
7	chr6:147626000-147700200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr6:147626200-147687200	Weak transcription	Fetal Muscle Leg	muscle
9	chr6:147626200-147707600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr6:147626400-147700000	Weak transcription	Brain Germinal Matrix	brain
11	chr6:147628200-147687000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr6:147631400-147707200	Weak transcription	Hela-S3	cervix
13	chr6:147633800-147684400	Weak transcription	Ovary	ovary
14	chr6:147637000-147686800	Weak transcription	A549	lung
15	chr6:147642800-147705000	Weak transcription	HepG2	liver
16	chr6:147643800-147686800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr6:147644200-147704000	Weak transcription	GM12878-XiMat	blood
18	chr6:147644400-147686600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr6:147644600-147684400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr6:147645200-147715000	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr6:147645800-147685000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr6:147649000-147687200	Weak transcription	Right Ventricle	heart
23	chr6:147649000-147705000	Weak transcription	Fetal Brain Male	brain
24	chr6:147649600-147685200	Weak transcription	Fetal Lung	lung
25	chr6:147649600-147703800	Weak transcription	Fetal Stomach	stomach
26	chr6:147649600-147706000	Weak transcription	Fetal Kidney	kidney
27	chr6:147649600-147711800	Weak transcription	Colonic Mucosa	Colon
28	chr6:147649800-147708000	Weak transcription	Brain Cingulate Gyrus	brain
29	chr6:147650000-147684400	Weak transcription	HSMMtube	muscle
30	chr6:147650200-147706400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr6:147655000-147707800	Weak transcription	Esophagus	oesophagus
32	chr6:147667600-147684600	Weak transcription	Stomach Smooth Muscle	stomach
33	chr6:147668200-147698600	Weak transcription	Aorta	Aorta
34	chr6:147668200-147708000	Weak transcription	NHEK	skin
35	chr6:147669400-147699600	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr6:147669600-147684400	Weak transcription	Left Ventricle	heart
37	chr6:147675000-147688200	Strong transcription	Muscle Satellite Cultured Cells	--
38	chr6:147675000-147688400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr6:147677600-147688600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr6:147677800-147688200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr6:147677800-147688400	Strong transcription	K562	blood
42	chr6:147677800-147688600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr6:147678000-147688200	Strong transcription	Rectal Mucosa Donor 31	rectum
44	chr6:147678200-147688600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
45	chr6:147678600-147705200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr6:147678800-147686600	Weak transcription	Dnd41	blood
47	chr6:147679000-147688000	Strong transcription	Primary T helper cells PMA-I stimulated	--
48	chr6:147679000-147688200	Strong transcription	Primary T helper cells fromperipheralblood	blood
49	chr6:147679000-147702000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr6:147679000-147707400	Weak transcription	Brain Substantia Nigra	brain

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