Variant report

Variant	rs9399597
Chromosome Location	chr6:147645472-147645473
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:147603218..147605835-chr6:147644641..147647408,2	K562	blood:
2	chr6:147643796..147646367-chr6:147650099..147652941,2	K562	blood:
3	chr6:147644229..147646379-chr6:147656668..147659345,2	K562	blood:
4	chr6:147638465..147640199-chr6:147644851..147646514,2	MCF-7	breast:

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs1039083	0.89[ASN][1000 genomes]
rs1039084	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1039085	0.89[ASN][1000 genomes]
rs1039086	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1147845	0.84[ASN][1000 genomes]
rs1147846	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1147847	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12173905	0.91[ASN][1000 genomes]
rs12191720	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12199542	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12527235	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1992389	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2068111	0.83[ASN][1000 genomes]
rs2502732	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2582924	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2582925	0.86[ASN][1000 genomes]
rs2582929	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2786183	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2786185	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2786187	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2786189	0.82[EUR][1000 genomes]
rs2850177	0.84[ASN][1000 genomes]
rs486867	0.84[ASN][1000 genomes]
rs4896904	0.90[ASN][1000 genomes]
rs4896906	0.85[ASN][1000 genomes]
rs4896907	0.93[ASN][1000 genomes]
rs4896908	0.83[ASN][1000 genomes]
rs562417	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs577877	0.85[ASN][1000 genomes]
rs580657	0.92[ASN][1000 genomes]
rs584456	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs588273	0.83[ASN][1000 genomes]
rs58987334	0.94[ASN][1000 genomes]
rs591355	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs597631	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs598038	0.85[ASN][1000 genomes]
rs614476	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs617975	0.85[ASN][1000 genomes]
rs618474	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs619626	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs620715	0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62435617	0.92[ASN][1000 genomes]
rs62435630	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs633603	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs659399	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs664203	0.85[ASN][1000 genomes]
rs673944	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6928919	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6932613	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7739314	0.90[ASN][1000 genomes]
rs7762087	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7765526	0.82[ASN][1000 genomes]
rs7769576	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9373522	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9377048	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9390459	0.93[ASN][1000 genomes]
rs9390460	0.93[ASN][1000 genomes]
rs9390463	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9399598	0.91[ASN][1000 genomes]
rs9399599	0.90[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	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	nsv886758	chr6:147644505-147679631	Strong transcription Genic enhancers Weak transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 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	chr6:147609800-147667000	Weak transcription	NHEK	skin
4	chr6:147610200-147700200	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr6:147617400-147680200	Weak transcription	Small Intestine	intestine
6	chr6:147618600-147648400	Weak transcription	HSMMtube	muscle
7	chr6:147618600-147649000	Weak transcription	Fetal Kidney	kidney
8	chr6:147619200-147690200	Weak transcription	Fetal Heart	heart
9	chr6:147619800-147648400	Weak transcription	Fetal Brain Male	brain
10	chr6:147622600-147708200	Weak transcription	Psoas Muscle	Psoas
11	chr6:147625600-147647000	Weak transcription	Rectal Smooth Muscle	rectum
12	chr6:147625600-147648600	Weak transcription	Brain Cingulate Gyrus	brain
13	chr6:147625800-147651200	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr6:147625800-147664600	Weak transcription	Spleen	Spleen
15	chr6:147625800-147667400	Weak transcription	Gastric	stomach
16	chr6:147626000-147648600	Weak transcription	Fetal Stomach	stomach
17	chr6:147626000-147650600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr6:147626000-147687000	Weak transcription	Lung	lung
19	chr6:147626000-147700200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr6:147626200-147662600	Weak transcription	Pancreas	Pancrea
21	chr6:147626200-147670200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr6:147626200-147684000	Weak transcription	Brain Hippocampus Middle	brain
23	chr6:147626200-147684000	Weak transcription	Fetal Muscle Trunk	muscle
24	chr6:147626200-147687200	Weak transcription	Fetal Muscle Leg	muscle
25	chr6:147626200-147707600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr6:147626400-147655400	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr6:147626400-147700000	Weak transcription	Brain Germinal Matrix	brain
28	chr6:147628000-147648600	Weak transcription	Fetal Intestine Small	intestine
29	chr6:147628000-147648600	Weak transcription	Right Ventricle	heart
30	chr6:147628000-147668000	Weak transcription	Aorta	Aorta
31	chr6:147628200-147687000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr6:147631400-147707200	Weak transcription	Hela-S3	cervix
33	chr6:147632000-147648800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr6:147633200-147650000	Strong transcription	Muscle Satellite Cultured Cells	--
35	chr6:147633800-147684400	Weak transcription	Ovary	ovary
36	chr6:147634800-147650000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr6:147635800-147647600	Weak transcription	Placenta	Placenta
38	chr6:147637000-147686800	Weak transcription	A549	lung
39	chr6:147637800-147647200	Weak transcription	Brain Substantia Nigra	brain
40	chr6:147638200-147647600	Weak transcription	Stomach Smooth Muscle	stomach
41	chr6:147638400-147655200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr6:147639800-147647200	Weak transcription	NHLF	lung
43	chr6:147639800-147649400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr6:147639800-147654600	Weak transcription	HUVEC	blood vessel
45	chr6:147640000-147664400	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr6:147640200-147648600	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr6:147640200-147649200	Weak transcription	NH-A	brain
48	chr6:147641600-147646800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr6:147641800-147648200	Weak transcription	Left Ventricle	heart
50	chr6:147641800-147653000	Weak transcription	Esophagus	oesophagus

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