Variant report

Variant	rs11965709
Chromosome Location	chr6:163957507-163957508
allele	A/C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:163957257..163960069-chr6:163960925..163963530,2	K562	blood:
2	chr6:163956231..163958805-chr6:163964495..163966703,2	K562	blood:
3	chr6:163956713..163960069-chr6:163960925..163963530,5	K562	blood:

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10484571	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10484572	0.91[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10484573	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11962850	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11964510	1.00[AMR][1000 genomes]
rs11964910	1.00[AMR][1000 genomes]
rs11965425	1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs11966710	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11966885	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11966919	1.00[AMR][1000 genomes]
rs11966922	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11966958	0.91[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11969530	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11970766	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16888835	0.88[AFR][1000 genomes]
rs16888837	0.89[YRI][hapmap];1.00[AMR][1000 genomes]
rs16895001	1.00[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16895012	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16895056	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16895066	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16895078	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16895118	0.89[YRI][hapmap];1.00[AMR][1000 genomes]
rs16895125	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16895139	0.91[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3846780	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3903714	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56702350	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57292071	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57394768	1.00[AMR][1000 genomes]
rs57952819	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59845233	1.00[AMR][1000 genomes]
rs60965967	1.00[AMR][1000 genomes]
rs61306342	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs62428365	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6937286	1.00[AMR][1000 genomes]
rs73784410	1.00[AMR][1000 genomes]
rs73784416	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73787643	1.00[AMR][1000 genomes]
rs73787648	1.00[AMR][1000 genomes]
rs73787650	1.00[AMR][1000 genomes]
rs7754815	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7755028	0.91[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019551	chr6:163842358-163965216	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1017495	chr6:163856399-163981095	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1027863	chr6:163934616-163965216	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv1018860	chr6:163939347-164532579	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	nsv538526	chr6:163939347-164532579	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:163926600-163991800	Weak transcription	Esophagus	oesophagus
2	chr6:163935200-163958800	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr6:163935200-163959400	Weak transcription	Lung	lung
4	chr6:163940200-163983000	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr6:163948400-163958400	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr6:163948600-163959000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr6:163948600-163964600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr6:163949000-163958000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr6:163949400-163959200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr6:163949600-163975200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr6:163949600-163992000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr6:163949600-163995400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr6:163951000-163978800	Weak transcription	Fetal Kidney	kidney
14	chr6:163951200-163993200	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr6:163951600-163985800	Weak transcription	Hela-S3	cervix
16	chr6:163951800-163973400	Weak transcription	Fetal Stomach	stomach
17	chr6:163952000-163958600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr6:163952400-163984400	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr6:163952600-163958000	Weak transcription	Ovary	ovary
20	chr6:163952600-163958400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr6:163952600-163959200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr6:163952600-163959400	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr6:163952600-163960200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr6:163952600-163960400	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr6:163952600-163960800	Enhancers	Brain Cingulate Gyrus	brain
26	chr6:163952600-163961400	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr6:163952600-163972000	Weak transcription	Primary T cells from cord blood	blood
28	chr6:163952600-163979600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr6:163952600-163981400	Weak transcription	Pancreas	Pancrea
30	chr6:163952600-163982800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr6:163952600-163996600	Weak transcription	Gastric	stomach
32	chr6:163953000-163959600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr6:163953400-163958200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr6:163953800-163958800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr6:163953800-163964000	Weak transcription	Fetal Brain Male	brain
36	chr6:163954000-163958000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr6:163954000-163958000	Weak transcription	Psoas Muscle	Psoas
38	chr6:163954000-163958400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr6:163954000-163960200	Weak transcription	Spleen	Spleen
40	chr6:163954000-163968400	Weak transcription	K562	blood
41	chr6:163954000-163979400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr6:163954000-163984200	Weak transcription	Primary hematopoietic stem cells	blood
43	chr6:163954000-163984400	Weak transcription	Aorta	Aorta
44	chr6:163954000-163991600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr6:163954200-163959400	Weak transcription	Left Ventricle	heart
46	chr6:163954400-163957800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr6:163954400-163958000	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr6:163954800-163957800	Weak transcription	Primary B cells from peripheral blood	blood
49	chr6:163954800-163958200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr6:163954800-163958600	Weak transcription	HUES48 Cell Line	embryonic stem cell

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