Variant report

Variant	rs12207401
Chromosome Location	chr6:131100459-131100460
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	chr6:131068465..131070607-chr6:131098057..131100480,2	K562	blood:

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10456989	1.00[ASN][1000 genomes]
rs10456991	1.00[ASN][1000 genomes]
rs10457558	1.00[ASN][1000 genomes]
rs12190916	1.00[ASN][1000 genomes]
rs12192664	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12193575	1.00[ASN][1000 genomes]
rs12193685	1.00[ASN][1000 genomes]
rs12197236	1.00[ASN][1000 genomes]
rs12200243	1.00[ASN][1000 genomes]
rs12200889	1.00[ASN][1000 genomes]
rs12202345	1.00[ASN][1000 genomes]
rs12207323	1.00[ASN][1000 genomes]
rs12207735	1.00[ASN][1000 genomes]
rs12210131	1.00[ASN][1000 genomes]
rs12210483	1.00[ASN][1000 genomes]
rs12212907	1.00[ASN][1000 genomes]
rs12214117	1.00[ASN][1000 genomes]
rs13199082	1.00[ASN][1000 genomes]
rs13205393	1.00[ASN][1000 genomes]
rs13219477	1.00[ASN][1000 genomes]
rs1396249	1.00[ASN][1000 genomes]
rs1603657	1.00[ASN][1000 genomes]
rs17059473	1.00[ASN][1000 genomes]
rs28580091	1.00[ASN][1000 genomes]
rs34043716	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34157430	1.00[ASN][1000 genomes]
rs34206551	1.00[ASN][1000 genomes]
rs34261251	1.00[ASN][1000 genomes]
rs34948572	1.00[ASN][1000 genomes]
rs35061946	1.00[ASN][1000 genomes]
rs4549635	1.00[ASN][1000 genomes]
rs6906238	1.00[ASN][1000 genomes]
rs6912992	1.00[ASN][1000 genomes]
rs6937306	1.00[ASN][1000 genomes]
rs6940545	1.00[ASN][1000 genomes]
rs71572935	1.00[ASN][1000 genomes]
rs71572945	1.00[ASN][1000 genomes]
rs71572950	1.00[ASN][1000 genomes]
rs9483175	1.00[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	nsv533971	chr6:130490694-131172051	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv830806	chr6:130938330-131107137	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv604664	chr6:131004998-131115817	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1025019	chr6:131074711-131116070	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv604665	chr6:131077027-131115817	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv604666	chr6:131078180-131122295	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:131099200-131100800	Enhancers	Dnd41	blood
2	chr6:131099600-131101600	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr6:131099800-131100600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr6:131099800-131100600	Weak transcription	Fetal Thymus	thymus
5	chr6:131099800-131100600	Enhancers	NH-A	brain
6	chr6:131099800-131100800	Enhancers	Primary hematopoietic stem cells	blood
7	chr6:131099800-131100800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr6:131099800-131100800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr6:131099800-131100800	Flanking Active TSS	Osteobl	bone
10	chr6:131099800-131101000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr6:131099800-131101000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr6:131099800-131101200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr6:131099800-131101600	Enhancers	Colon Smooth Muscle	Colon
14	chr6:131099800-131103200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr6:131099800-131103600	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr6:131099800-131103800	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr6:131100000-131100600	Active TSS	Adipose Nuclei	Adipose
18	chr6:131100000-131100600	Enhancers	Rectal Mucosa Donor 29	rectum
19	chr6:131100000-131101200	Enhancers	Duodenum Smooth Muscle	Duodenum
20	chr6:131100000-131101400	Enhancers	Rectal Smooth Muscle	rectum
21	chr6:131100000-131101600	Enhancers	Fetal Stomach	stomach
22	chr6:131100000-131101600	Enhancers	NHLF	lung
23	chr6:131100000-131103600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
24	chr6:131100200-131100600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr6:131100200-131100600	Active TSS	NHDF-Ad	bronchial
26	chr6:131100200-131103600	Enhancers	Primary T cells fromperipheralblood	blood
27	chr6:131100400-131100600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr6:131100400-131100600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
29	chr6:131100400-131100600	Enhancers	Stomach Smooth Muscle	stomach
30	chr6:131100400-131100600	Flanking Active TSS	HSMM	muscle
31	chr6:131100400-131100800	Flanking Active TSS	HSMMtube	muscle
32	chr6:131100400-131101200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr6:131100400-131101200	Enhancers	Primary T killer memory cells from peripheral blood	blood
34	chr6:131100400-131101200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr6:131100400-131103600	Enhancers	Primary T cells from cord blood	blood
36	chr6:131100400-131103600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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