Variant report

Variant	rs2328813
Chromosome Location	chr6:147699123-147699124
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs1039083	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1039084	0.81[ASN][1000 genomes]
rs1039085	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1147845	0.82[ASN][1000 genomes]
rs12191720	0.81[ASN][1000 genomes]
rs12199542	0.81[ASN][1000 genomes]
rs12527235	0.81[ASN][1000 genomes]
rs1496031	0.94[CHD][hapmap];0.85[GIH][hapmap];0.95[JPT][hapmap]
rs1496033	0.88[EUR][1000 genomes]
rs1992389	0.81[ASN][1000 genomes]
rs2047286	0.88[EUR][1000 genomes]
rs2068111	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2582925	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2786189	0.85[JPT][hapmap]
rs2850177	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2850178	0.80[EUR][1000 genomes]
rs486867	0.85[ASN][1000 genomes]
rs4896904	0.90[JPT][hapmap];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4896905	0.88[EUR][1000 genomes]
rs4896906	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4896907	0.86[ASN][1000 genomes]
rs4896908	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs566028	0.86[CHD][hapmap];0.81[JPT][hapmap]
rs577877	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs588273	0.83[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs58987334	0.85[ASN][1000 genomes]
rs597631	0.94[CHD][hapmap]
rs598038	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs614476	0.94[CHD][hapmap]
rs617975	0.85[ASN][1000 genomes]
rs664203	0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6932613	0.81[ASN][1000 genomes]
rs7739314	0.86[CHD][hapmap];0.84[GIH][hapmap];0.86[MKK][hapmap];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7762087	0.81[ASN][1000 genomes]
rs7765526	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9373522	0.81[ASN][1000 genomes]
rs9373523	0.96[EUR][1000 genomes]
rs9390458	0.81[CEU][hapmap];0.84[GIH][hapmap];0.81[TSI][hapmap];0.88[EUR][1000 genomes]
rs9390459	0.86[ASN][1000 genomes]
rs9390460	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9390461	0.84[EUR][1000 genomes]
rs9390462	0.98[EUR][1000 genomes]
rs9390463	0.88[ASN][1000 genomes]
rs9399598	0.97[CHD][hapmap];0.87[GIH][hapmap];0.90[JPT][hapmap];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9399599	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9403852	0.90[EUR][1000 genomes]
rs9497759	0.90[EUR][1000 genomes]
rs995697	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 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
12	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	chr6:147610200-147700200	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr6:147622600-147708200	Weak transcription	Psoas Muscle	Psoas
4	chr6:147626000-147700200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr6:147626200-147707600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr6:147626400-147700000	Weak transcription	Brain Germinal Matrix	brain
7	chr6:147631400-147707200	Weak transcription	Hela-S3	cervix
8	chr6:147642800-147705000	Weak transcription	HepG2	liver
9	chr6:147644200-147704000	Weak transcription	GM12878-XiMat	blood
10	chr6:147645200-147715000	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr6:147649000-147705000	Weak transcription	Fetal Brain Male	brain
12	chr6:147649600-147703800	Weak transcription	Fetal Stomach	stomach
13	chr6:147649600-147706000	Weak transcription	Fetal Kidney	kidney
14	chr6:147649600-147711800	Weak transcription	Colonic Mucosa	Colon
15	chr6:147649800-147708000	Weak transcription	Brain Cingulate Gyrus	brain
16	chr6:147650200-147706400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr6:147655000-147707800	Weak transcription	Esophagus	oesophagus
18	chr6:147668200-147708000	Weak transcription	NHEK	skin
19	chr6:147669400-147699600	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr6:147678600-147705200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr6:147679000-147702000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr6:147679000-147707400	Weak transcription	Brain Substantia Nigra	brain
23	chr6:147680400-147707600	Weak transcription	Gastric	stomach
24	chr6:147680400-147707600	Weak transcription	Small Intestine	intestine
25	chr6:147680400-147710600	Weak transcription	Pancreas	Pancrea
26	chr6:147680400-147721800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr6:147680600-147707600	Weak transcription	Rectal Smooth Muscle	rectum
28	chr6:147680600-147707800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr6:147684800-147707400	Weak transcription	Brain Hippocampus Middle	brain
30	chr6:147685000-147700000	Weak transcription	Brain Angular Gyrus	brain
31	chr6:147685000-147700200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr6:147685600-147700000	Weak transcription	Liver	Liver
33	chr6:147685600-147707600	Weak transcription	HUVEC	blood vessel
34	chr6:147685600-147714200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr6:147687200-147704600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr6:147687400-147706200	Weak transcription	Right Ventricle	heart
37	chr6:147687600-147705000	Weak transcription	Primary B cells from peripheral blood	blood
38	chr6:147687600-147705000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr6:147687600-147706200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr6:147687600-147707600	Weak transcription	Lung	lung
41	chr6:147687600-147707600	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr6:147687800-147700000	Weak transcription	Brain Anterior Caudate	brain
43	chr6:147687800-147700000	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr6:147687800-147704600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr6:147687800-147705000	Weak transcription	NHLF	lung
46	chr6:147687800-147707600	Weak transcription	Ovary	ovary
47	chr6:147687800-147708000	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr6:147687800-147708000	Weak transcription	Thymus	Thymus
49	chr6:147687800-147724600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr6:147688000-147702200	Weak transcription	Primary B cells from cord blood	blood

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