Variant report

Variant	rs12194496
Chromosome Location	chr6:118847454-118847455
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:118845234..118848026-chr6:118887537..118889460,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs12153828	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12153955	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12154067	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12189855	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12190763	1.00[ASN][1000 genomes]
rs12192216	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12192380	1.00[ASN][1000 genomes]
rs12194679	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12195048	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12195858	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12199508	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12199837	1.00[ASN][1000 genomes]
rs12200232	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12201919	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12203311	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12203844	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12204855	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12210025	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12216440	1.00[ASN][1000 genomes]
rs13192975	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13206243	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1936058	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2638553	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs283095	0.87[ASN][1000 genomes]
rs34479025	1.00[ASN][1000 genomes]
rs34496399	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35327831	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35407905	1.00[ASN][1000 genomes]
rs61380216	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67299819	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6941759	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7742210	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7745369	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7766888	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9320664	1.00[ASN][1000 genomes]
rs9401080	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532051	chr6:118551027-119044197	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1020463	chr6:118593028-119146363	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv1025403	chr6:118635123-119122551	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv1025456	chr6:118669672-119058789	Active TSS Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv1027444	chr6:118687556-119121660	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
6	nsv538428	chr6:118687556-119121660	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers 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	10 gene(s)	inside rSNPs	diseases
7	nsv949321	chr6:118692304-119137658	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
8	nsv432958	chr6:118692307-119010307	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
9	nsv604555	chr6:118695049-118856822	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
10	nsv1034448	chr6:118698169-119016383	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
11	nsv1025097	chr6:118699752-119058789	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
12	nsv1020586	chr6:118711098-118900012	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
13	nsv532052	chr6:118711850-119057295	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
14	nsv432959	chr6:118716318-119010307	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised 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	9 gene(s)	inside rSNPs	diseases
15	nsv604556	chr6:118722589-119065365	Active TSS Strong transcription Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
16	nsv525179	chr6:118726243-118876092	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
17	nsv1019357	chr6:118731468-118860705	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
18	nsv464027	chr6:118768150-118856822	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	n/a
19	nsv604557	chr6:118768150-118856822	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	n/a
20	nsv464029	chr6:118768150-118861263	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	n/a
21	nsv604558	chr6:118768150-118861263	Weak transcription Genic enhancers ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	n/a
22	nsv949416	chr6:118772508-119033063	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
23	nsv948980	chr6:118772508-119137658	Genic enhancers Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised 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	10 gene(s)	inside rSNPs	diseases
24	nsv604559	chr6:118786486-119113317	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
25	nsv1022865	chr6:118786586-119058789	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers 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	8 gene(s)	inside rSNPs	diseases
26	nsv1020405	chr6:118786586-119241006	ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:118824200-118858800	Weak transcription	NH-A	brain
2	chr6:118824200-118869800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr6:118826400-118847600	Weak transcription	Thymus	Thymus
4	chr6:118832600-118852800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr6:118834000-118850800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr6:118836600-118869400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr6:118837000-118847600	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr6:118842200-118849400	Weak transcription	Brain Germinal Matrix	brain
9	chr6:118842600-118849200	Weak transcription	Stomach Mucosa	stomach
10	chr6:118842600-118850800	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr6:118842600-118863800	Weak transcription	NHDF-Ad	bronchial
12	chr6:118843200-118847800	Weak transcription	Lung	lung
13	chr6:118844000-118858000	Weak transcription	Fetal Stomach	stomach
14	chr6:118844800-118849000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr6:118844800-118849200	Weak transcription	Liver	Liver
16	chr6:118844800-118850400	Weak transcription	Primary B cells from peripheral blood	blood
17	chr6:118844800-118858000	Weak transcription	Primary hematopoietic stem cells	blood
18	chr6:118844800-118859400	Weak transcription	Dnd41	blood
19	chr6:118844800-118872000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr6:118844800-118875800	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr6:118845000-118850800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr6:118845000-118857600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr6:118845000-118863400	Weak transcription	HSMM	muscle
24	chr6:118845200-118880000	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr6:118845600-118848600	Strong transcription	Primary T cells from cord blood	blood
26	chr6:118845800-118850600	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr6:118846000-118847600	Enhancers	Gastric	stomach
28	chr6:118846000-118848000	Strong transcription	Primary B cells from cord blood	blood
29	chr6:118846000-118875600	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr6:118846200-118847600	Weak transcription	Pancreas	Pancrea
31	chr6:118846200-118848200	Weak transcription	Right Atrium	heart
32	chr6:118846200-118851800	Weak transcription	Fetal Muscle Leg	muscle
33	chr6:118846200-118857600	Weak transcription	Left Ventricle	heart
34	chr6:118846200-118858400	Weak transcription	Fetal Thymus	thymus
35	chr6:118846200-118858600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr6:118846200-118878600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr6:118846400-118848400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr6:118846600-118847600	Active TSS	Fetal Brain Male	brain
39	chr6:118846600-118847800	Enhancers	Fetal Lung	lung
40	chr6:118846600-118848000	Enhancers	Colon Smooth Muscle	Colon
41	chr6:118846600-118848200	Enhancers	Brain Hippocampus Middle	brain
42	chr6:118846600-118848600	Enhancers	Ovary	ovary
43	chr6:118846600-118849200	Enhancers	Stomach Smooth Muscle	stomach
44	chr6:118846600-118850000	Enhancers	Skeletal Muscle Male	skeletal muscle
45	chr6:118846800-118847800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
46	chr6:118846800-118848000	Enhancers	Fetal Heart	heart
47	chr6:118846800-118848200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr6:118847000-118847600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
49	chr6:118847000-118847800	Enhancers	Brain Substantia Nigra	brain
50	chr6:118847000-118848600	Enhancers	Primary T helper cells fromperipheralblood	blood

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