Variant report

Variant	rs11898050
Chromosome Location	chr2:36593910-36593911
allele	A/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	EP300	chr2:36593611-36593986	SK-N-SH_RA	brain:	n/a	n/a
2	POLR2A	chr2:36593772-36594370	HUVEC	blood vessel:	n/a	n/a
3	BRCA1	chr2:36593442-36594281	Hela-S3	cervix:	n/a	n/a
4	STAT3	chr2:36593558-36594051	MCF10A-Er-Src	breast:	n/a	chr2:36593799-36593807
5	TAF1	chr2:36593737-36594007	SK-N-SH	brain:	n/a	n/a
6	POLR2A	chr2:36593569-36593973	MCF10A-Er-Src	breast:	n/a	n/a
7	MYC	chr2:36593876-36594076	MCF10A-Er-Src	breast:	n/a	n/a
8	POLR2A	chr2:36593556-36593980	PANC-1	pancreas:	n/a	n/a
9	GATA3	chr2:36593488-36595730	SK-N-SH	brain:	n/a	chr2:36594849-36594859
10	POLR2A	chr2:36593640-36596146	HUVEC	blood vessel:	n/a	n/a
11	POLR2A	chr2:36593549-36595941	PANC-1	pancreas:	n/a	n/a
12	POLR2A	chr2:36593750-36597273	A549	lung:	n/a	n/a
13	POLR2A	chr2:36593233-36602259	HepG2	liver:	n/a	n/a
14	POLR2A	chr2:36593053-36597288	SK-N-SH	brain:	n/a	n/a
15	CEBPB	chr2:36593626-36593975	Hela-S3	cervix:	n/a	chr2:36593637-36593649
16	POLR2A	chr2:36593758-36594205	HepG2	liver:	n/a	n/a
17	POLR2A	chr2:36593762-36594346	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:36593375..36594216-chr5:143923517..143924443,2	MCF-7	breast:
2	chr2:36593697..36595696-chr2:36635356..36637149,2	MCF-7	breast:
3	chr2:36582061..36584144-chr2:36592487..36595427,3	MCF-7	breast:

Variant related genes	Relation type
CRIM1	TF binding region
ENSG00000150938	Chromatin interaction
ENSG00000260025	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10167894	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10178804	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10192912	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10198159	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11885395	1.00[ASN][1000 genomes]
rs12712500	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17480064	1.00[ASN][1000 genomes]
rs4670144	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4670545	1.00[ASN][1000 genomes]
rs4670547	0.93[CEU][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55653640	1.00[ASN][1000 genomes]
rs9308991	0.87[CEU][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9308992	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs997602	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	nsv833803	chr2:36589065-36745779	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 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	chr2:36585200-36596400	Weak transcription	Pancreas	Pancrea
2	chr2:36585800-36596400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr2:36586200-36603600	Weak transcription	Brain Germinal Matrix	brain
4	chr2:36586200-36626600	Weak transcription	Primary B cells from cord blood	blood
5	chr2:36586600-36596400	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr2:36587400-36594000	Weak transcription	Fetal Stomach	stomach
7	chr2:36587800-36594000	Weak transcription	Right Ventricle	heart
8	chr2:36589000-36594200	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr2:36589400-36594000	Weak transcription	Fetal Brain Male	brain
10	chr2:36589400-36594800	Weak transcription	Fetal Brain Female	brain
11	chr2:36589600-36595000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr2:36589800-36594000	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr2:36589800-36594800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr2:36589800-36594800	Enhancers	Adipose Nuclei	Adipose
15	chr2:36589800-36596200	Weak transcription	Brain Hippocampus Middle	brain
16	chr2:36589800-36596400	Weak transcription	Brain Cingulate Gyrus	brain
17	chr2:36590000-36594400	Genic enhancers	Osteobl	bone
18	chr2:36590000-36594600	Enhancers	HMEC	breast
19	chr2:36590000-36594800	Weak transcription	Stomach Mucosa	stomach
20	chr2:36590000-36598200	Genic enhancers	Muscle Satellite Cultured Cells	--
21	chr2:36590200-36594000	Enhancers	NHEK	skin
22	chr2:36590600-36594600	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr2:36590600-36594800	Enhancers	Hela-S3	cervix
24	chr2:36590800-36597200	Enhancers	H1 Cell Line	embryonic stem cell
25	chr2:36591000-36595200	Weak transcription	Esophagus	oesophagus
26	chr2:36591200-36594800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr2:36591400-36595000	Weak transcription	Spleen	Spleen
28	chr2:36591600-36594000	Weak transcription	Colon Smooth Muscle	Colon
29	chr2:36591600-36595000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr2:36592000-36594800	Weak transcription	Stomach Smooth Muscle	stomach
31	chr2:36592200-36594600	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr2:36592200-36595000	Weak transcription	Colonic Mucosa	Colon
33	chr2:36592200-36595600	Enhancers	Placenta	Placenta
34	chr2:36592400-36594000	Enhancers	NHLF	lung
35	chr2:36592400-36599800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr2:36592400-36605800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr2:36592600-36594800	Enhancers	HepG2	liver
38	chr2:36592600-36596400	Enhancers	HSMMtube	muscle
39	chr2:36592600-36596600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr2:36592600-36597200	Enhancers	Placenta Amnion	Placenta Amnion
41	chr2:36592600-36597200	Enhancers	Right Atrium	heart
42	chr2:36592800-36594000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr2:36592800-36594000	Weak transcription	Psoas Muscle	Psoas
44	chr2:36592800-36594600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr2:36592800-36598200	Enhancers	NHDF-Ad	bronchial
46	chr2:36593200-36594000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr2:36593200-36594600	Enhancers	NH-A	brain
48	chr2:36593200-36594800	Weak transcription	Left Ventricle	heart
49	chr2:36593200-36595000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr2:36593200-36595000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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