Variant report

Variant	rs7549894
Chromosome Location	chr1:56973294-56973295
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:56970988..56973563-chr1:56974719..56979116,4	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11583161	0.93[AMR][1000 genomes]
rs11590570	0.93[AMR][1000 genomes]
rs12081589	0.86[ASN][1000 genomes]
rs12084507	0.86[ASN][1000 genomes]
rs57966457	0.93[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs58289463	0.87[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs60314060	0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs6690245	0.87[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs72664330	0.86[ASN][1000 genomes]
rs7512545	0.93[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7519268	0.93[AMR][1000 genomes]
rs7554557	0.85[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	nsv869295	chr1:56894955-57656562	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:56957800-56975600	Weak transcription	Fetal Brain Female	brain
2	chr1:56958000-56975600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr1:56958000-56977000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:56960800-56976000	Genic enhancers	HepG2	liver
5	chr1:56962400-56976000	Weak transcription	NH-A	brain
6	chr1:56964800-56976000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
7	chr1:56964800-56979200	Genic enhancers	NHDF-Ad	bronchial
8	chr1:56965000-56975600	Strong transcription	HUES48 Cell Line	embryonic stem cell
9	chr1:56965200-56975600	Strong transcription	H1 Cell Line	embryonic stem cell
10	chr1:56965200-56975600	Strong transcription	HUES64 Cell Line	embryonic stem cell
11	chr1:56965800-56975600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
12	chr1:56965800-56975800	Strong transcription	Cortex derived primary cultured neurospheres	brain
13	chr1:56966000-56980600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr1:56966800-56974600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr1:56966800-56975800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr1:56967000-57002000	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr1:56967400-56978400	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr1:56967800-56975600	Weak transcription	Fetal Brain Male	brain
19	chr1:56968000-56976000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
20	chr1:56968200-56975000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr1:56968200-56975400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr1:56968600-56975600	Strong transcription	Stomach Smooth Muscle	stomach
23	chr1:56968800-56973800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr1:56968800-56974000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr1:56968800-56974400	Strong transcription	A549	lung
26	chr1:56969000-56979200	Genic enhancers	Lung	lung
27	chr1:56969400-56973800	Strong transcription	Osteobl	bone
28	chr1:56970200-56974800	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr1:56970400-56977400	Genic enhancers	Fetal Intestine Large	intestine
30	chr1:56970800-56975000	Strong transcription	H9 Cell Line	embryonic stem cell
31	chr1:56970800-56975200	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr1:56970800-56977400	Genic enhancers	Skeletal Muscle Female	skeletal muscle
33	chr1:56970800-56978000	Genic enhancers	Fetal Intestine Small	intestine
34	chr1:56970800-56978200	Enhancers	Right Atrium	heart
35	chr1:56971000-56973400	Enhancers	Primary hematopoietic stem cells	blood
36	chr1:56971000-56973400	Genic enhancers	Gastric	stomach
37	chr1:56971000-56973800	Genic enhancers	Liver	Liver
38	chr1:56971000-56978000	Strong transcription	Thymus	Thymus
39	chr1:56971000-56979200	Genic enhancers	Left Ventricle	heart
40	chr1:56971400-56973600	Strong transcription	Brain Inferior Temporal Lobe	brain
41	chr1:56971400-56973800	Enhancers	Duodenum Mucosa	Duodenum
42	chr1:56971400-56977000	Genic enhancers	Skeletal Muscle Male	skeletal muscle
43	chr1:56971400-56986200	Genic enhancers	Placenta	Placenta
44	chr1:56971600-56973400	Enhancers	HUVEC	blood vessel
45	chr1:56971600-56973800	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr1:56971600-56974600	Genic enhancers	Ovary	ovary
47	chr1:56971600-56974800	Genic enhancers	Esophagus	oesophagus
48	chr1:56971600-56975000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr1:56971600-56975200	Genic enhancers	Sigmoid Colon	Sigmoid Colon
50	chr1:56971600-56976400	Enhancers	Psoas Muscle	Psoas

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