Variant report

Variant	rs2275396
Chromosome Location	chr6:132711772-132711773
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs2275393	0.99[ASN][1000 genomes]
rs2275395	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3861471	0.80[ASN][1000 genomes]
rs4895936	0.99[ASN][1000 genomes]
rs4897579	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58101102	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58579517	0.99[ASN][1000 genomes]
rs73547914	0.92[ASN][1000 genomes]
rs9321341	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9375873	0.86[EUR][1000 genomes]
rs9375874	0.86[EUR][1000 genomes]
rs9375875	0.86[EUR][1000 genomes]
rs9375879	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9375880	0.90[ASN][1000 genomes]
rs9375882	0.99[ASN][1000 genomes]
rs9388983	0.86[EUR][1000 genomes]
rs9388984	0.86[EUR][1000 genomes]
rs9402397	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:35 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830811	chr6:132623160-132787539	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
2	nsv886675	chr6:132683762-132730947	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv604668	chr6:132687248-132731358	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv604669	chr6:132702249-132712307	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
5	nsv5480	chr6:132705614-132714040	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv3486501	chr6:132706459-132713557	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
7	esv3486500	chr6:132706884-132713457	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
8	esv3486503	chr6:132706884-132713457	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
9	esv3486502	chr6:132707378-132712799	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	inside rSNPs	diseases
10	nsv499756	chr6:132707546-132712422	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	inside rSNPs	diseases
11	esv19195	chr6:132707651-132712477	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	inside rSNPs	diseases
12	nsv604673	chr6:132708163-132711772	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
13	nsv604674	chr6:132708163-132711933	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
14	nsv604675	chr6:132708163-132712233	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
15	nsv604676	chr6:132708163-132712307	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
16	nsv604677	chr6:132708163-132718231	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
17	nsv604679	chr6:132708327-132711772	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
18	nsv604680	chr6:132708327-132712233	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
19	nsv604681	chr6:132708327-132712307	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
20	nsv604685	chr6:132709027-132711772	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
21	nsv604686	chr6:132709027-132711933	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
22	nsv604687	chr6:132709027-132712233	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
23	nsv604688	chr6:132709027-132712307	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
24	nsv604689	chr6:132709300-132712307	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
25	nsv604690	chr6:132709300-132718231	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
26	esv2422115	chr6:132709357-132713043	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	inside rSNPs	diseases
27	nsv442008	chr6:132709357-132713043	Flanking Active TSS Enhancers Weak transcription Active TSS	n/a	n/a	inside rSNPs	diseases
28	nsv514389	chr6:132709611-132712483	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
29	nsv604691	chr6:132709644-132711772	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
30	nsv604692	chr6:132709644-132711933	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
31	nsv604693	chr6:132709644-132712307	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
32	nsv604694	chr6:132709934-132712307	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
33	nsv604695	chr6:132710181-132712307	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
34	nsv604696	chr6:132710756-132712233	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
35	nsv604697	chr6:132710831-132712307	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:132701600-132713200	Weak transcription	Primary B cells from cord blood	blood
2	chr6:132704200-132712800	Weak transcription	HSMMtube	muscle
3	chr6:132707800-132711800	Weak transcription	NHLF	lung
4	chr6:132709000-132711800	Enhancers	NHDF-Ad	bronchial
5	chr6:132709000-132712800	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr6:132709200-132712800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr6:132709200-132712800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr6:132709400-132712000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr6:132709400-132712800	Enhancers	Fetal Lung	lung
10	chr6:132709600-132712800	Weak transcription	Fetal Kidney	kidney
11	chr6:132709800-132711800	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr6:132709800-132712000	Weak transcription	HMEC	breast
13	chr6:132709800-132712200	Weak transcription	Fetal Stomach	stomach
14	chr6:132709800-132712400	Weak transcription	NHEK	skin
15	chr6:132709800-132712600	Weak transcription	Fetal Brain Female	brain
16	chr6:132709800-132712600	Weak transcription	HSMM	muscle
17	chr6:132709800-132712600	Weak transcription	NH-A	brain
18	chr6:132709800-132713000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr6:132709800-132713000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr6:132709800-132713000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr6:132709800-132713000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr6:132709800-132713200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr6:132710200-132712800	Weak transcription	Brain Germinal Matrix	brain
24	chr6:132710200-132712800	Weak transcription	Osteobl	bone
25	chr6:132710600-132712800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr6:132711000-132712800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr6:132711000-132712800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr6:132711600-132712800	Enhancers	Fetal Brain Male	brain
29	chr6:132711600-132713000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr6:132711600-132713800	Weak transcription	Primary B cells from peripheral blood	blood

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