Variant report

Variant	rs7549940
Chromosome Location	chr1:226216195-226216196
allele	C/G
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:226208374..226211010-chr1:226213387..226217163,4	K562	blood:
2	chr1:226186244..226188594-chr1:226215514..226217643,2	MCF-7	breast:
3	chr1:226215678..226220022-chr1:226220215..226226731,8	K562	blood:
4	chr1:226205369..226210756-chr1:226213268..226218237,7	K562	blood:
5	chr1:226216143..226219037-chr1:226224148..226226795,2	K562	blood:
6	chr1:226214991..226218304-chr1:226227352..226231229,3	K562	blood:
7	chr1:226187874..226190820-chr1:226213394..226216312,2	K562	blood:
8	chr1:226210880..226213220-chr1:226215595..226219244,3	K562	blood:
9	chr1:226192599..226195198-chr1:226214634..226216846,2	K562	blood:
10	chr1:226215723..226217503-chr1:226248785..226250914,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000272562	Chromatin interaction
ENSG00000143751	Chromatin interaction
ENSG00000163041	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs6682659	0.88[AFR][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	nsv832747	chr1:226194143-226373415	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226214400-226217600	Enhancers	K562	blood
2	chr1:226214800-226216400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr1:226215000-226216400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:226215000-226216800	Enhancers	Colonic Mucosa	Colon
5	chr1:226215000-226217000	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr1:226215000-226217800	Enhancers	Sigmoid Colon	Sigmoid Colon
7	chr1:226215000-226218200	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr1:226215000-226218200	Enhancers	Rectal Mucosa Donor 31	rectum
9	chr1:226215000-226218200	Enhancers	Stomach Mucosa	stomach
10	chr1:226215000-226218600	Enhancers	Fetal Intestine Small	intestine
11	chr1:226215000-226219800	Enhancers	Primary B cells from cord blood	blood
12	chr1:226215000-226221400	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr1:226215200-226216200	Enhancers	Esophagus	oesophagus
14	chr1:226215200-226216200	Weak transcription	Placenta	Placenta
15	chr1:226215200-226216600	Enhancers	Duodenum Mucosa	Duodenum
16	chr1:226215400-226216800	Enhancers	Rectal Mucosa Donor 29	rectum
17	chr1:226215400-226217600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
18	chr1:226215600-226217800	Enhancers	Primary hematopoietic stem cells	blood
19	chr1:226215600-226218200	Enhancers	Fetal Intestine Large	intestine
20	chr1:226215600-226218800	Enhancers	Primary B cells from peripheral blood	blood
21	chr1:226215800-226216600	Flanking Active TSS	HepG2	liver
22	chr1:226216000-226217000	Enhancers	GM12878-XiMat	blood

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