Variant report

Variant	rs619626
Chromosome Location	chr6:147590408-147590409
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:147584140..147585793-chr6:147589242..147590787,2	K562	blood:
2	chr6:147564930..147567300-chr6:147589285..147591858,2	K562	blood:
3	chr6:147588082..147592199-chr6:147598950..147601651,3	K562	blood:
4	chr6:147583404..147586719-chr6:147587995..147591992,4	K562	blood:

Extended variants
information (count: 86 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs1039083	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1039084	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1039085	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1039086	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1147844	0.81[EUR][1000 genomes]
rs1147845	0.88[ASN][1000 genomes]
rs1147846	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1147847	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12173905	0.96[ASN][1000 genomes]
rs12191720	0.90[ASN][1000 genomes]
rs12199542	0.86[ASN][1000 genomes]
rs1221638	0.86[EUR][1000 genomes]
rs12527235	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1496031	0.82[CEU][hapmap];0.84[CHB][hapmap]
rs1660687	0.82[EUR][1000 genomes]
rs1992389	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2068111	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2119490	0.81[EUR][1000 genomes]
rs2218221	0.82[EUR][1000 genomes]
rs2502732	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2582924	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2582925	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2582929	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2786183	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2786184	0.81[EUR][1000 genomes]
rs2786185	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2786187	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2786189	0.84[CHB][hapmap]
rs2850177	0.88[ASN][1000 genomes]
rs2850178	0.80[EUR][1000 genomes]
rs474990	0.82[EUR][1000 genomes]
rs486867	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4896904	0.83[CEU][hapmap];0.85[CHB][hapmap];0.85[ASN][1000 genomes]
rs4896906	0.80[ASN][1000 genomes]
rs4896907	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs519630	0.95[EUR][1000 genomes]
rs533201	0.82[CEU][hapmap];0.81[EUR][1000 genomes]
rs556493	0.88[EUR][1000 genomes]
rs562417	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs566028	0.81[CEU][hapmap];0.83[CHB][hapmap];0.83[EUR][1000 genomes]
rs577877	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs580657	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs584456	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs588273	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs58987334	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs591355	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs597631	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs598038	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs608147	0.82[EUR][1000 genomes]
rs614476	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs617975	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs618474	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs619175	0.82[EUR][1000 genomes]
rs620715	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62435617	0.97[ASN][1000 genomes]
rs62435630	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs633603	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs656728	0.84[CHB][hapmap]
rs657155	0.90[EUR][1000 genomes]
rs659399	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs664203	0.83[CEU][hapmap];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs673944	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6928919	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6932613	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7739314	0.89[CHB][hapmap];0.95[JPT][hapmap];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7762087	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7769576	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9373522	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9377048	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9390459	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9390460	0.89[ASN][1000 genomes]
rs9390463	0.85[ASN][1000 genomes]
rs9399597	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9399598	0.82[CEU][hapmap];0.84[CHB][hapmap];0.86[ASN][1000 genomes]
rs9399599	0.86[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	nsv1019245	chr6:147350834-147609776	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	nsv538467	chr6:147350834-147609776	Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	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
4	nsv886753	chr6:147526508-147680291	Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	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
6	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
7	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
8	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
9	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
10	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
11	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

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:147542400-147590800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr6:147545600-147617000	Weak transcription	Small Intestine	intestine
3	chr6:147549400-147616800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr6:147552600-147591800	Weak transcription	HUVEC	blood vessel
5	chr6:147561600-147600800	Weak transcription	Stomach Smooth Muscle	stomach
6	chr6:147562600-147599800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr6:147564400-147604600	Weak transcription	NHLF	lung
8	chr6:147564400-147619000	Weak transcription	Hela-S3	cervix
9	chr6:147564600-147608800	Weak transcription	NH-A	brain
10	chr6:147564600-147617000	Weak transcription	Fetal Kidney	kidney
11	chr6:147570600-147609000	Weak transcription	Brain Substantia Nigra	brain
12	chr6:147571400-147599200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr6:147571400-147599400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr6:147572600-147605800	Weak transcription	Brain Anterior Caudate	brain
15	chr6:147572600-147609600	Weak transcription	Thymus	Thymus
16	chr6:147572600-147610200	Weak transcription	Esophagus	oesophagus
17	chr6:147572800-147599000	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr6:147572800-147605800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr6:147572800-147617000	Weak transcription	Right Ventricle	heart
20	chr6:147573000-147594200	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr6:147573000-147599200	Weak transcription	Rectal Smooth Muscle	rectum
22	chr6:147573000-147599800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr6:147573000-147599800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr6:147573000-147616600	Weak transcription	Ovary	ovary
25	chr6:147573000-147616800	Weak transcription	Aorta	Aorta
26	chr6:147573200-147599200	Weak transcription	Fetal Lung	lung
27	chr6:147573200-147599800	Weak transcription	Left Ventricle	heart
28	chr6:147573200-147610000	Weak transcription	Fetal Stomach	stomach
29	chr6:147573200-147617000	Weak transcription	Spleen	Spleen
30	chr6:147573400-147609200	Weak transcription	Pancreas	Pancrea
31	chr6:147573800-147608600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr6:147574200-147599600	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr6:147574400-147616600	Weak transcription	Fetal Brain Female	brain
34	chr6:147576800-147609800	Weak transcription	HSMMtube	muscle
35	chr6:147578200-147616800	Weak transcription	Fetal Muscle Leg	muscle
36	chr6:147579200-147610000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr6:147579400-147609800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr6:147581000-147591600	Strong transcription	K562	blood
39	chr6:147581200-147599400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr6:147584200-147595400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr6:147584200-147600800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr6:147584400-147684600	Weak transcription	Brain Angular Gyrus	brain
43	chr6:147584600-147591400	Strong transcription	Monocytes-CD14+_RO01746	blood
44	chr6:147584600-147594800	Strong transcription	Primary neutrophils fromperipheralblood	blood
45	chr6:147584800-147592400	Strong transcription	Primary monocytes fromperipheralblood	blood
46	chr6:147584800-147606000	Weak transcription	Brain Hippocampus Middle	brain
47	chr6:147585000-147603200	Weak transcription	Colon Smooth Muscle	Colon
48	chr6:147585200-147591000	Strong transcription	Rectal Mucosa Donor 31	rectum
49	chr6:147585200-147593800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr6:147585400-147591200	Strong transcription	Primary T helper cells PMA-I stimulated	--

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