Variant report

Variant	rs12122628
Chromosome Location	chr1:56914701-56914702
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:56899641..56901431-chr1:56912878..56915864,2	K562	blood:
2	chr1:56912555..56915039-chr1:56924933..56927037,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11206807	1.00[ASN][1000 genomes]
rs11206808	1.00[ASN][1000 genomes]
rs12137498	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17406943	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17415442	0.93[AFR][1000 genomes]
rs2780865	1.00[ASN][1000 genomes]
rs35064883	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4912172	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4912275	1.00[ASN][1000 genomes]
rs4912305	1.00[ASN][1000 genomes]
rs56027745	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72662266	1.00[ASN][1000 genomes]
rs72662267	1.00[ASN][1000 genomes]
rs72662272	0.83[AMR][1000 genomes]
rs72662283	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72662289	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72662291	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72662298	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72664306	1.00[ASN][1000 genomes]
rs72664313	1.00[ASN][1000 genomes]
rs72664316	1.00[ASN][1000 genomes]
rs914837	1.00[ASN][1000 genomes]
rs9437005	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[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:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:56905400-56942600	Weak transcription	Gastric	stomach
2	chr1:56905600-56914800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:56906000-56914800	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr1:56908400-56916800	Weak transcription	Brain Anterior Caudate	brain
5	chr1:56909200-56915800	Enhancers	HepG2	liver
6	chr1:56910000-56916200	Enhancers	Liver	Liver
7	chr1:56911800-56914800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr1:56912000-56915000	Enhancers	Adipose Nuclei	Adipose
9	chr1:56912000-56915200	Enhancers	NHDF-Ad	bronchial
10	chr1:56912000-56916200	Enhancers	Right Atrium	heart
11	chr1:56912000-56916400	Enhancers	Hela-S3	cervix
12	chr1:56912000-56916600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr1:56912000-56916600	Enhancers	Left Ventricle	heart
14	chr1:56912400-56914800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr1:56912400-56914800	Weak transcription	Duodenum Mucosa	Duodenum
16	chr1:56912400-56915400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr1:56912600-56915600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr1:56912800-56914800	Weak transcription	Fetal Muscle Trunk	muscle
19	chr1:56912800-56915400	Weak transcription	Esophagus	oesophagus
20	chr1:56912800-56915600	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr1:56912800-56915800	Weak transcription	Brain Substantia Nigra	brain
22	chr1:56912800-56915800	Weak transcription	Ovary	ovary
23	chr1:56912800-56918600	Weak transcription	Fetal Heart	heart
24	chr1:56912800-56922400	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr1:56912800-56923400	Weak transcription	Spleen	Spleen
26	chr1:56913000-56914800	Weak transcription	Fetal Muscle Leg	muscle
27	chr1:56913000-56915400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr1:56913000-56916000	Weak transcription	Stomach Smooth Muscle	stomach
29	chr1:56913200-56914800	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr1:56913200-56917400	Weak transcription	Rectal Smooth Muscle	rectum
31	chr1:56913400-56915800	Weak transcription	Fetal Stomach	stomach
32	chr1:56913600-56917000	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr1:56913800-56914800	Weak transcription	Right Ventricle	heart
34	chr1:56913800-56915400	Weak transcription	Fetal Thymus	thymus
35	chr1:56913800-56917000	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr1:56913800-56917200	Weak transcription	Small Intestine	intestine
37	chr1:56913800-56917400	Weak transcription	Colon Smooth Muscle	Colon
38	chr1:56913800-56943200	Weak transcription	Aorta	Aorta
39	chr1:56914200-56915200	Enhancers	HMEC	breast
40	chr1:56914200-56916200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr1:56914200-56916200	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr1:56914200-56916200	Enhancers	Lung	lung
43	chr1:56914200-56916200	Enhancers	Psoas Muscle	Psoas
44	chr1:56914200-56916400	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr1:56914200-56917400	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr1:56914200-56919800	Enhancers	Fetal Intestine Small	intestine
47	chr1:56914400-56914800	Enhancers	Fetal Lung	lung
48	chr1:56914400-56915000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr1:56914400-56915000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr1:56914400-56919600	Enhancers	Fetal Intestine Large	intestine

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