Variant report

Variant	rs1156156
Chromosome Location	chr2:231312140-231312141
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	chr2:231310357-231315156	GM12892	blood:	n/a	n/a
2	POLR2A	chr2:231311662-231313826	GM12892	blood:	n/a	n/a
3	POLR2A	chr2:231311675-231312185	GM12892	blood:	n/a	n/a
4	POLR2A	chr2:231312106-231312231	GM12878	blood:	n/a	n/a
5	POLR2A	chr2:231310306-231315168	GM12878	blood:	n/a	n/a
6	POLR2A	chr2:231312093-231313134	GM12891	blood:	n/a	n/a
7	POLR2A	chr2:231311581-231312762	GM12891	blood:	n/a	n/a
8	NFIC	chr2:231312134-231313477	GM12878	blood:	n/a	n/a
9	POLR2A	chr2:231311403-231313266	GM12878	blood:	n/a	n/a
10	POLR2A	chr2:231311178-231313870	GM12891	blood:	n/a	n/a
11	POLR2A	chr2:231310334-231313894	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:231311040..231312950-chr2:231322465..231324120,2	K562	blood:

Variant related genes	Relation type
SP100	TF binding region

Extended variants
information (count: 25 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10178594	0.93[ASN][1000 genomes]
rs10182438	1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs10191957	0.87[ASN][1000 genomes]
rs10205096	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11675846	0.94[ASN][1000 genomes]
rs13398034	0.89[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs13406769	0.91[ASN][1000 genomes]
rs13411586	0.89[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs1559987	0.93[ASN][1000 genomes]
rs2255345	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs3893833	0.89[CHB][hapmap];0.85[JPT][hapmap]
rs3893834	0.89[CHB][hapmap];0.85[JPT][hapmap]
rs58742879	0.91[ASN][1000 genomes]
rs58941251	0.82[ASN][1000 genomes]
rs62193374	0.82[ASN][1000 genomes]
rs62193375	0.83[ASN][1000 genomes]
rs62193377	0.82[ASN][1000 genomes]
rs62193379	0.82[ASN][1000 genomes]
rs62193406	0.91[ASN][1000 genomes]
rs62193407	0.91[ASN][1000 genomes]
rs62193410	0.91[ASN][1000 genomes]
rs890674	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs9678342	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv18000	chr2:231072978-231467847	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv584672	chr2:231289976-231348888	Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:231288800-231319000	Weak transcription	Fetal Kidney	kidney
2	chr2:231288800-231356000	Weak transcription	Stomach Mucosa	stomach
3	chr2:231301400-231314400	Weak transcription	Psoas Muscle	Psoas
4	chr2:231301800-231345000	Weak transcription	A549	lung
5	chr2:231303200-231317200	Genic enhancers	Primary B cells from peripheral blood	blood
6	chr2:231304400-231320800	Weak transcription	Brain Hippocampus Middle	brain
7	chr2:231306000-231314400	Weak transcription	Esophagus	oesophagus
8	chr2:231306600-231323400	Weak transcription	K562	blood
9	chr2:231306800-231318200	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr2:231307400-231312600	Genic enhancers	Primary B cells from cord blood	blood
11	chr2:231307400-231317600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
12	chr2:231307400-231318200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr2:231307400-231321800	Strong transcription	Liver	Liver
14	chr2:231307600-231312200	Strong transcription	Sigmoid Colon	Sigmoid Colon
15	chr2:231307600-231312400	Strong transcription	Primary neutrophils fromperipheralblood	blood
16	chr2:231307600-231315000	Strong transcription	Fetal Muscle Leg	muscle
17	chr2:231307600-231315000	Strong transcription	Left Ventricle	heart
18	chr2:231307600-231315400	Strong transcription	Rectal Mucosa Donor 31	rectum
19	chr2:231307600-231316600	Strong transcription	Primary hematopoietic stem cells	blood
20	chr2:231307600-231318200	Strong transcription	Rectal Mucosa Donor 29	rectum
21	chr2:231307600-231319600	Strong transcription	Dnd41	blood
22	chr2:231307600-231336600	Strong transcription	Duodenum Mucosa	Duodenum
23	chr2:231307800-231315000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr2:231307800-231315000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr2:231307800-231315200	Strong transcription	HSMMtube	muscle
26	chr2:231307800-231318400	Strong transcription	Duodenum Smooth Muscle	Duodenum
27	chr2:231308000-231312200	Strong transcription	Primary T killer memory cells from peripheral blood	blood
28	chr2:231308000-231312600	Strong transcription	Adipose Nuclei	Adipose
29	chr2:231308000-231314000	Weak transcription	Brain Substantia Nigra	brain
30	chr2:231308000-231315000	Strong transcription	Fetal Intestine Small	intestine
31	chr2:231308000-231315200	Strong transcription	HSMM	muscle
32	chr2:231308000-231315800	Strong transcription	Placenta	Placenta
33	chr2:231308200-231315000	Strong transcription	Fetal Intestine Large	intestine
34	chr2:231308200-231316000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr2:231308400-231314800	Strong transcription	Gastric	stomach
36	chr2:231308400-231318000	Strong transcription	Muscle Satellite Cultured Cells	--
37	chr2:231308600-231312400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr2:231308600-231315000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr2:231308600-231318000	Strong transcription	Osteobl	bone
40	chr2:231308600-231318200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr2:231308800-231314600	Strong transcription	NHDF-Ad	bronchial
42	chr2:231308800-231315000	Strong transcription	NHEK	skin
43	chr2:231308800-231316200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr2:231308800-231316200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr2:231308800-231320800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr2:231308800-231337000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr2:231308800-231337400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr2:231309200-231313000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr2:231309200-231313600	Strong transcription	NH-A	brain
50	chr2:231309200-231315000	Strong transcription	Fetal Stomach	stomach

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