Variant report

Variant	rs4711522
Chromosome Location	chr6:37954692-37954693
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:37919246..37922240-chr6:37953708..37956298,2	K562	blood:
2	chr6:37954058..37955830-chr6:37961204..37963273,2	K562	blood:

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs11756656	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1212636	0.95[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap]
rs12211975	1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap]
rs13198420	0.85[CHB][hapmap]
rs174105	0.82[AFR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs187741	0.84[ASN][1000 genomes]
rs1885325	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1923279	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap]
rs1979759	0.90[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2055205	0.84[AFR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2180514	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2201646	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs259672	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[ASN][1000 genomes]
rs259674	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs259675	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs259676	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[ASN][1000 genomes]
rs259677	0.92[ASN][1000 genomes]
rs259678	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[ASN][1000 genomes]
rs259682	0.82[AFR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs259683	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs259685	0.84[AFR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs259687	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs259688	0.86[ASN][1000 genomes]
rs259693	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs259694	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs259717	0.95[CHB][hapmap];0.87[JPT][hapmap]
rs259721	0.95[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap]
rs259722	0.95[CHB][hapmap];0.91[JPT][hapmap]
rs259723	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap]
rs3792706	0.84[ASN][1000 genomes]
rs4142102	1.00[CEU][hapmap];0.95[CHB][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap]
rs4711524	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4714118	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4714123	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6458030	0.95[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap]
rs6458036	0.95[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs6458040	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs67479083	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6912097	0.82[ASN][1000 genomes]
rs6915506	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[ASN][1000 genomes]
rs6917668	1.00[CEU][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6920185	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6926280	0.90[CHB][hapmap];0.86[JPT][hapmap]
rs6929371	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs6930859	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs6934617	1.00[CEU][hapmap];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6936504	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap]
rs6938580	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs7765798	1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs881681	0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs9349053	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs9369029	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9369033	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs9394469	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9394471	0.91[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs9462374	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs9462380	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9470714	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap]
rs9470723	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9470724	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9470725	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9470762	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9470800	0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs9647620	0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[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	nsv1028825	chr6:37495154-38278320	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv1024016	chr6:37567651-37981590	Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1017051	chr6:37789341-38084719	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv538203	chr6:37789341-38084719	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1018711	chr6:37813397-37981590	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1020625	chr6:37833591-38155622	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
7	nsv1021991	chr6:37893949-38738720	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
8	nsv602956	chr6:37909084-37986489	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	esv2761037	chr6:37930659-37966762	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:37922800-37957600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr6:37922800-37958600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr6:37926800-37955000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr6:37942800-37956800	Weak transcription	Aorta	Aorta
5	chr6:37943000-37955800	Weak transcription	Fetal Heart	heart
6	chr6:37946800-37955800	Weak transcription	Primary B cells from cord blood	blood
7	chr6:37948000-37955400	Weak transcription	Left Ventricle	heart
8	chr6:37948000-37955400	Weak transcription	Rectal Smooth Muscle	rectum
9	chr6:37948000-37956800	Weak transcription	Pancreas	Pancrea
10	chr6:37948200-37955200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr6:37948200-37955600	Weak transcription	Primary hematopoietic stem cells	blood
12	chr6:37948400-37954800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr6:37948400-37955400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr6:37948400-37957600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr6:37948400-37958600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr6:37948600-37957800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr6:37949200-37955400	Weak transcription	Fetal Kidney	kidney
18	chr6:37949200-37955400	Weak transcription	Right Ventricle	heart
19	chr6:37949600-37955400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr6:37949800-37955400	Weak transcription	Adipose Nuclei	Adipose
21	chr6:37949800-37955400	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr6:37949800-37956800	Weak transcription	Right Atrium	heart
23	chr6:37949800-37962000	Weak transcription	Small Intestine	intestine
24	chr6:37950000-37954800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr6:37950000-37955400	Weak transcription	Brain Hippocampus Middle	brain
26	chr6:37950000-37963600	Weak transcription	Spleen	Spleen
27	chr6:37950400-37955400	Weak transcription	Brain Substantia Nigra	brain
28	chr6:37950400-37956000	Weak transcription	Brain Cingulate Gyrus	brain
29	chr6:37950400-37957000	Weak transcription	Duodenum Mucosa	Duodenum
30	chr6:37950400-37958800	Enhancers	Primary T helper cells PMA-I stimulated	--
31	chr6:37950600-37954800	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr6:37950600-37955400	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr6:37951800-37959800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr6:37952200-37961400	Enhancers	Liver	Liver
35	chr6:37952400-37955400	Weak transcription	Fetal Stomach	stomach
36	chr6:37952600-37957800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr6:37952600-37958600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr6:37952800-37955400	Weak transcription	Primary B cells from peripheral blood	blood
39	chr6:37952800-37955400	Weak transcription	Primary T cells from cord blood	blood
40	chr6:37953400-37955400	Weak transcription	Ovary	ovary
41	chr6:37953400-37955800	Enhancers	Primary T helper cells fromperipheralblood	blood
42	chr6:37953400-37956000	Weak transcription	K562	blood
43	chr6:37953400-37957200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
44	chr6:37953400-37958600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr6:37953400-37960400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr6:37953400-37962600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr6:37953400-37962600	Weak transcription	Lung	lung
48	chr6:37953400-37965200	Weak transcription	Esophagus	oesophagus
49	chr6:37953600-37957200	Enhancers	HepG2	liver
50	chr6:37953600-37958600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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