Variant report

Variant	rs2280475
Chromosome Location	chr1:151681635-151681636
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:151680966-151683349	H1-neurons	neurons:	n/a	n/a
2	POLR2A	chr1:151681310-151682161	H1-neurons	neurons:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:151680360..151683089-chr1:151739535..151742461,2	MCF-7	breast:
2	chr1:151672629..151675087-chr1:151680419..151682673,2	K562	blood:
3	chr1:151680409..151681994-chr1:151800376..151802986,2	K562	blood:

Variant related genes	Relation type
RIIAD1	TF binding region
CELF3	TF binding region
ENSG00000240510	TF binding region
ENSG00000249602	Chromatin interaction
ENSG00000143450	Chromatin interaction
ENSG00000227045	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs12746897	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12751044	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1607933	1.00[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17641780	0.85[JPT][hapmap]
rs2280473	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2298294	0.81[CHB][hapmap]
rs3204344	0.90[JPT][hapmap]
rs34660868	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3828056	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4466658	0.83[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56130043	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs58983661	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6676545	1.00[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap]
rs6685067	0.90[JPT][hapmap]
rs6687866	0.91[JPT][hapmap]
rs6690942	0.82[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap]
rs6702842	0.90[JPT][hapmap]

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151663200-151683200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr1:151666000-151685400	Weak transcription	A549	lung
3	chr1:151667000-151687400	Weak transcription	K562	blood
4	chr1:151667800-151686000	Weak transcription	HMEC	breast
5	chr1:151670000-151689800	Weak transcription	Pancreas	Pancrea
6	chr1:151671400-151682600	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr1:151672400-151684800	Weak transcription	Small Intestine	intestine
8	chr1:151673800-151682400	Weak transcription	Brain Cingulate Gyrus	brain
9	chr1:151673800-151685200	Weak transcription	Fetal Kidney	kidney
10	chr1:151674000-151682400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:151674000-151685400	Weak transcription	Gastric	stomach
12	chr1:151674200-151683200	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr1:151674200-151683200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr1:151674200-151687400	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr1:151674600-151681800	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr1:151674600-151682400	Weak transcription	Brain Substantia Nigra	brain
17	chr1:151674600-151682600	Weak transcription	Brain Hippocampus Middle	brain
18	chr1:151674600-151683200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr1:151674600-151683200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr1:151674600-151685200	Weak transcription	Fetal Lung	lung
21	chr1:151674600-151686000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr1:151674800-151681800	Weak transcription	Brain Angular Gyrus	brain
23	chr1:151674800-151686200	Weak transcription	Esophagus	oesophagus
24	chr1:151676200-151682400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr1:151677000-151681800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr1:151678000-151682000	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr1:151679000-151682000	Weak transcription	Brain Anterior Caudate	brain
28	chr1:151679200-151682200	Strong transcription	Brain Germinal Matrix	brain
29	chr1:151679200-151684600	Weak transcription	Colonic Mucosa	Colon
30	chr1:151679400-151684400	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr1:151679600-151681800	Strong transcription	Fetal Intestine Small	intestine
32	chr1:151679600-151684000	Weak transcription	Duodenum Mucosa	Duodenum
33	chr1:151679600-151684800	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr1:151680200-151685400	Weak transcription	Spleen	Spleen
35	chr1:151680200-151687400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr1:151680400-151684400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr1:151680400-151684600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr1:151680600-151683000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr1:151680800-151682000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr1:151680800-151686800	Enhancers	Fetal Brain Male	brain
41	chr1:151681200-151682200	Strong transcription	Fetal Intestine Large	intestine
42	chr1:151681200-151682400	Genic enhancers	Fetal Brain Female	brain
43	chr1:151681400-151682000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr1:151681600-151681800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr1:151681600-151684600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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