Variant report

Variant	rs6747249
Chromosome Location	chr2:9891619-9891620
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:9881447..9883906-chr2:9890191..9892636,2	MCF-7	breast:
2	chr2:9891163..9893022-chr2:9896031..9898454,2	K562	blood:
3	chr2:9877856..9880099-chr2:9889992..9892399,2	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10190011	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1105333	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1533388	0.92[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.82[TSI][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2014918	0.85[ASN][1000 genomes]
rs4669450	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6705100	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6709608	0.86[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs869159	0.85[CEU][hapmap];0.91[CHB][hapmap];0.89[CHD][hapmap];0.95[JPT][hapmap];0.82[TSI][hapmap];0.87[ASN][1000 genomes]
rs908289	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469405	chr2:9814374-9964947	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
2	nsv580930	chr2:9814374-9964947	Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv1003026	chr2:9854939-10012516	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
4	nsv470443	chr2:9857018-9975557	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	nsv1014911	chr2:9863969-9905959	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv873618	chr2:9870631-9919759	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
7	nsv873619	chr2:9870631-9956981	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
8	nsv1013969	chr2:9888703-10023951	Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
9	esv3336170	chr2:9891196-9891669	Weak transcription Enhancers Bivalent Enhancer Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:9880200-9892800	Weak transcription	Thymus	Thymus
2	chr2:9880200-9893200	Weak transcription	Right Atrium	heart
3	chr2:9884800-9892600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr2:9885200-9893000	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr2:9885400-9893000	Weak transcription	Left Ventricle	heart
6	chr2:9885600-9892600	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr2:9886200-9892800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr2:9888600-9892000	Enhancers	Fetal Muscle Leg	muscle
9	chr2:9888600-9893000	Enhancers	GM12878-XiMat	blood
10	chr2:9889200-9891800	Weak transcription	Hela-S3	cervix
11	chr2:9889200-9891800	Weak transcription	NHEK	skin
12	chr2:9889200-9892400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr2:9889400-9892000	Weak transcription	HMEC	breast
14	chr2:9889400-9892600	Weak transcription	Fetal Intestine Small	intestine
15	chr2:9889400-9893200	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr2:9889800-9896800	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr2:9890000-9892600	Weak transcription	Fetal Intestine Large	intestine
18	chr2:9890000-9892600	Weak transcription	HSMM	muscle
19	chr2:9890400-9892600	Weak transcription	HSMMtube	muscle
20	chr2:9890600-9893000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
21	chr2:9890800-9891800	Enhancers	Fetal Heart	heart
22	chr2:9890800-9892800	Enhancers	Primary T cells fromperipheralblood	blood
23	chr2:9890800-9894200	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr2:9890800-9895800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr2:9891000-9891800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr2:9891000-9891800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr2:9891000-9892200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr2:9891000-9892600	Enhancers	A549	lung
29	chr2:9891000-9895800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
30	chr2:9891200-9892400	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr2:9891400-9892600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr2:9891400-9892600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr2:9891400-9892800	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr2:9891400-9892800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr2:9891400-9893000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr2:9891400-9893000	Enhancers	Esophagus	oesophagus
37	chr2:9891600-9891800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr2:9891600-9891800	Enhancers	NHDF-Ad	bronchial
39	chr2:9891600-9892000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr2:9891600-9892000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr2:9891600-9892000	Enhancers	Fetal Thymus	thymus
42	chr2:9891600-9892600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr2:9891600-9892600	Enhancers	Monocytes-CD14+_RO01746	blood
44	chr2:9891600-9892800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr2:9891600-9892800	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr2:9891600-9893000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr2:9891600-9893000	Weak transcription	Right Ventricle	heart
48	chr2:9891600-9896800	Weak transcription	Psoas Muscle	Psoas

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