Variant report

Variant	rs9390462
Chromosome Location	chr6:147701221-147701222
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1147844	0.83[ASN][1000 genomes]
rs1496033	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1496034	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1660687	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2047286	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2119490	0.85[ASN][1000 genomes]
rs2218221	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2328813	0.98[EUR][1000 genomes]
rs2786184	0.81[AMR][1000 genomes]
rs2850178	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs474990	0.83[ASN][1000 genomes]
rs4896904	0.80[EUR][1000 genomes]
rs4896905	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4896906	0.86[EUR][1000 genomes]
rs4896908	0.87[EUR][1000 genomes]
rs533201	0.81[AMR][1000 genomes]
rs582437	0.91[CHB][hapmap]
rs608147	0.83[ASN][1000 genomes]
rs619175	0.83[ASN][1000 genomes]
rs7739314	0.88[CEU][hapmap];0.84[GIH][hapmap];0.84[EUR][1000 genomes]
rs7748995	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7765526	0.82[EUR][1000 genomes]
rs9373523	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9390458	1.00[GIH][hapmap];0.84[TSI][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9390460	0.84[EUR][1000 genomes]
rs9390461	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9399598	0.80[EUR][1000 genomes]
rs9399599	0.82[EUR][1000 genomes]
rs9403852	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9497759	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs995697	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[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	nsv886759	chr6:147686274-147764267	Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:147607400-147707400	Weak transcription	Colon Smooth Muscle	Colon
2	chr6:147622600-147708200	Weak transcription	Psoas Muscle	Psoas
3	chr6:147626200-147707600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr6:147631400-147707200	Weak transcription	Hela-S3	cervix
5	chr6:147642800-147705000	Weak transcription	HepG2	liver
6	chr6:147644200-147704000	Weak transcription	GM12878-XiMat	blood
7	chr6:147645200-147715000	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr6:147649000-147705000	Weak transcription	Fetal Brain Male	brain
9	chr6:147649600-147703800	Weak transcription	Fetal Stomach	stomach
10	chr6:147649600-147706000	Weak transcription	Fetal Kidney	kidney
11	chr6:147649600-147711800	Weak transcription	Colonic Mucosa	Colon
12	chr6:147649800-147708000	Weak transcription	Brain Cingulate Gyrus	brain
13	chr6:147650200-147706400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr6:147655000-147707800	Weak transcription	Esophagus	oesophagus
15	chr6:147668200-147708000	Weak transcription	NHEK	skin
16	chr6:147678600-147705200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr6:147679000-147702000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr6:147679000-147707400	Weak transcription	Brain Substantia Nigra	brain
19	chr6:147680400-147707600	Weak transcription	Gastric	stomach
20	chr6:147680400-147707600	Weak transcription	Small Intestine	intestine
21	chr6:147680400-147710600	Weak transcription	Pancreas	Pancrea
22	chr6:147680400-147721800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr6:147680600-147707600	Weak transcription	Rectal Smooth Muscle	rectum
24	chr6:147680600-147707800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr6:147684800-147707400	Weak transcription	Brain Hippocampus Middle	brain
26	chr6:147685600-147707600	Weak transcription	HUVEC	blood vessel
27	chr6:147685600-147714200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr6:147687200-147704600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr6:147687400-147706200	Weak transcription	Right Ventricle	heart
30	chr6:147687600-147705000	Weak transcription	Primary B cells from peripheral blood	blood
31	chr6:147687600-147705000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr6:147687600-147706200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr6:147687600-147707600	Weak transcription	Lung	lung
34	chr6:147687600-147707600	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr6:147687800-147704600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr6:147687800-147705000	Weak transcription	NHLF	lung
37	chr6:147687800-147707600	Weak transcription	Ovary	ovary
38	chr6:147687800-147708000	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr6:147687800-147708000	Weak transcription	Thymus	Thymus
40	chr6:147687800-147724600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr6:147688000-147702200	Weak transcription	Primary B cells from cord blood	blood
42	chr6:147688000-147704000	Weak transcription	Stomach Smooth Muscle	stomach
43	chr6:147688000-147704400	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chr6:147688000-147710600	Weak transcription	A549	lung
45	chr6:147688200-147701600	Weak transcription	Primary T cells fromperipheralblood	blood
46	chr6:147688200-147704600	Weak transcription	Fetal Muscle Leg	muscle
47	chr6:147688200-147705800	Weak transcription	Fetal Muscle Trunk	muscle
48	chr6:147688400-147705800	Weak transcription	HMEC	breast
49	chr6:147693200-147709600	Strong transcription	Primary neutrophils fromperipheralblood	blood
50	chr6:147694400-147709800	Strong transcription	Muscle Satellite Cultured Cells	--

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