Variant report

Variant	rs9348957
Chromosome Location	chr6:34969700-34969701
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:34968308..34970921-chr6:35006790..35009720,2	K562	blood:

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs11970238	0.87[ASN][1000 genomes]
rs12173920	1.00[CHB][hapmap];0.95[CHD][hapmap];0.92[GIH][hapmap];0.87[JPT][hapmap];1.00[MEX][hapmap];0.83[ASN][1000 genomes]
rs12176092	1.00[CHB][hapmap];0.95[CHD][hapmap];0.92[GIH][hapmap];0.87[JPT][hapmap];1.00[MEX][hapmap]
rs16894945	1.00[CEU][hapmap];0.94[CHB][hapmap];0.93[CHD][hapmap];0.92[GIH][hapmap];0.81[JPT][hapmap];1.00[MEX][hapmap];0.80[AMR][1000 genomes]
rs16894995	1.00[CEU][hapmap];0.94[CHB][hapmap];0.81[JPT][hapmap]
rs16895362	1.00[CHB][hapmap];0.95[CHD][hapmap];0.92[GIH][hapmap];0.87[JPT][hapmap];1.00[MEX][hapmap]
rs16895467	1.00[CHB][hapmap];0.87[JPT][hapmap]
rs16896235	1.00[CHB][hapmap];0.89[JPT][hapmap];0.91[ASN][1000 genomes]
rs3734260	1.00[CHB][hapmap];0.90[CHD][hapmap];0.92[GIH][hapmap];0.81[JPT][hapmap];1.00[MEX][hapmap]
rs3734263	1.00[CHB][hapmap];0.90[CHD][hapmap];0.92[GIH][hapmap];0.81[JPT][hapmap];1.00[MEX][hapmap]
rs3798349	1.00[CEU][hapmap];0.94[CHB][hapmap];0.93[CHD][hapmap];0.92[GIH][hapmap];0.81[JPT][hapmap];1.00[MEX][hapmap]
rs3800439	0.96[ASN][1000 genomes]
rs3800442	0.84[ASN][1000 genomes]
rs3800447	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3800449	1.00[CHB][hapmap];0.95[CHD][hapmap];0.92[GIH][hapmap];0.87[JPT][hapmap];1.00[MEX][hapmap]
rs3807051	0.84[ASN][1000 genomes]
rs56825685	0.80[AMR][1000 genomes]
rs57338415	0.80[AMR][1000 genomes]
rs57608318	0.84[ASN][1000 genomes]
rs57637041	0.80[AMR][1000 genomes]
rs58764768	0.85[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs58833137	0.80[AMR][1000 genomes]
rs60439875	0.80[AMR][1000 genomes]
rs60815469	0.85[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs6906552	0.81[ASN][1000 genomes]
rs73403805	0.96[ASN][1000 genomes]
rs73419643	0.80[AMR][1000 genomes]
rs73419656	0.80[AMR][1000 genomes]
rs73419658	0.80[AMR][1000 genomes]
rs73419660	0.80[AMR][1000 genomes]
rs73419689	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73421528	0.81[ASN][1000 genomes]
rs73421536	0.81[ASN][1000 genomes]
rs73421541	0.86[ASN][1000 genomes]
rs847849	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs9348954	0.89[CHB][hapmap];0.97[CHD][hapmap];0.89[GIH][hapmap];0.88[JPT][hapmap]
rs9348955	0.92[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs9348956	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs9357186	1.00[CHB][hapmap];0.95[CHD][hapmap];0.92[GIH][hapmap];0.87[JPT][hapmap];1.00[MEX][hapmap]
rs9357189	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs9357191	0.86[ASN][1000 genomes]
rs9368840	0.83[ASN][1000 genomes]
rs9368842	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs9368844	0.98[ASN][1000 genomes]
rs9380471	1.00[CHB][hapmap];0.87[JPT][hapmap];0.83[ASN][1000 genomes]
rs9380472	0.81[ASN][1000 genomes]
rs9380475	0.81[ASN][1000 genomes]
rs9380478	0.96[ASN][1000 genomes]
rs9394257	1.00[CHB][hapmap];0.87[JPT][hapmap];0.83[ASN][1000 genomes]
rs9394258	0.83[ASN][1000 genomes]
rs9394259	0.89[CHB][hapmap]
rs9394261	0.86[ASN][1000 genomes]
rs9394262	0.86[ASN][1000 genomes]
rs9394264	0.89[ASN][1000 genomes]
rs9394265	0.94[CHB][hapmap];0.93[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.87[ASN][1000 genomes]
rs9394267	0.94[CHB][hapmap];0.93[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022844	chr6:34317219-35060519	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv538195	chr6:34317219-35060519	Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	nsv885797	chr6:34791027-34980601	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv5257	chr6:34925313-34970101	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	esv3360031	chr6:34966453-34972064	Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv3446976	chr6:34966467-34971758	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34925600-34984800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr6:34926800-34992200	Weak transcription	Small Intestine	intestine
3	chr6:34932400-34981800	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr6:34939400-34978200	Weak transcription	Psoas Muscle	Psoas
5	chr6:34939400-35016000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr6:34955000-34973600	Weak transcription	Stomach Mucosa	stomach
7	chr6:34959200-34979000	Weak transcription	Rectal Smooth Muscle	rectum
8	chr6:34960200-34979200	Weak transcription	HUVEC	blood vessel
9	chr6:34960200-34988200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr6:34961000-34985200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr6:34961200-34983400	Weak transcription	Fetal Kidney	kidney
12	chr6:34961600-34982200	Weak transcription	Right Ventricle	heart
13	chr6:34962200-34982200	Weak transcription	Hela-S3	cervix
14	chr6:34962200-34984800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr6:34962800-34970400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr6:34962800-34978800	Weak transcription	Fetal Lung	lung
17	chr6:34962800-34983600	Weak transcription	Osteobl	bone
18	chr6:34962800-34985200	Weak transcription	Brain Germinal Matrix	brain
19	chr6:34963000-34969800	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr6:34963000-34970000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr6:34963000-34970000	Weak transcription	HSMMtube	muscle
22	chr6:34963000-34970400	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr6:34963000-34975400	Weak transcription	Brain Angular Gyrus	brain
24	chr6:34963000-34976000	Weak transcription	Brain Cingulate Gyrus	brain
25	chr6:34963000-34976000	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr6:34963000-34978000	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr6:34963000-34979400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr6:34963000-34982200	Weak transcription	Aorta	Aorta
29	chr6:34963000-34982200	Weak transcription	Pancreas	Pancrea
30	chr6:34963000-34982400	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr6:34963000-34982400	Weak transcription	Fetal Stomach	stomach
32	chr6:34963000-34982600	Weak transcription	Stomach Smooth Muscle	stomach
33	chr6:34963000-34985000	Weak transcription	Fetal Brain Female	brain
34	chr6:34963000-34985200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr6:34963000-34985400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr6:34963000-34985600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr6:34963000-34985600	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr6:34963000-34985600	Weak transcription	NHEK	skin
39	chr6:34963000-34987800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr6:34963000-34989400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr6:34963200-34970200	Weak transcription	Dnd41	blood
42	chr6:34963200-34982200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr6:34963600-34969800	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr6:34963600-34970000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr6:34963600-34970200	Weak transcription	Fetal Intestine Large	intestine
46	chr6:34963600-34970600	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr6:34963600-34975000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr6:34963600-34975200	Weak transcription	Brain Hippocampus Middle	brain
49	chr6:34963600-34975600	Weak transcription	Brain Substantia Nigra	brain
50	chr6:34963600-34975800	Weak transcription	Brain Anterior Caudate	brain

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