Variant report

Variant	rs6727543
Chromosome Location	chr2:190458292-190458293
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:190446940..190449110-chr2:190456662..190458990,2	MCF-7	breast:
2	chr2:190457442..190459082-chr2:190460282..190462125,2	MCF-7	breast:
3	chr2:190457726..190459959-chr2:190464125..190466028,2	K562	blood:
4	chr2:190444872..190450921-chr2:190457183..190461226,6	K562	blood:
5	chr2:190444872..190449774-chr2:190457341..190461226,6	K562	blood:
6	chr2:190451312..190454709-chr2:190455474..190459136,4	K562	blood:
7	chr2:190455815..190461971-chr2:190463661..190467798,11	K562	blood:
8	chr2:190455804..190458326-chr2:190460988..190463187,2	K562	blood:
9	chr2:190452817..190455455-chr2:190456994..190459136,2	K562	blood:

No data

No data

No data

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10931426	1.00[CEU][hapmap];0.88[CHB][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.82[TSI][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11683621	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11901113	0.85[EUR][1000 genomes]
rs1439816	0.93[CEU][hapmap]
rs7563737	0.93[CEU][hapmap];0.81[GIH][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7592158	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533029	chr2:189812229-190554339	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190455000-190461400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
2	chr2:190456000-190458600	Enhancers	Primary T helper naive cells from peripheral blood	blood
3	chr2:190456000-190461000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
4	chr2:190456200-190458800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
5	chr2:190456200-190459800	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr2:190456400-190458600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
7	chr2:190456400-190458600	Enhancers	Dnd41	blood
8	chr2:190456400-190458800	Enhancers	Primary T helper cells PMA-I stimulated	--
9	chr2:190456600-190458400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr2:190456600-190458400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr2:190456600-190458600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
12	chr2:190456600-190458800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr2:190457400-190458800	Enhancers	Primary T cells from cord blood	blood
14	chr2:190457600-190458400	Enhancers	Primary T killer memory cells from peripheral blood	blood
15	chr2:190457800-190458600	Enhancers	Primary T cells fromperipheralblood	blood
16	chr2:190457800-190458600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
17	chr2:190458200-190458400	Enhancers	Aorta	Aorta

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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