Variant report

Variant	rs1020151
Chromosome Location	chr2:190537455-190537456
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	chr2:190536047-190539158	K562	blood:	n/a	n/a
2	POLR2A	chr2:190537248-190537567	HepG2	liver:	n/a	n/a
3	POLR2A	chr2:190536016-190538449	HepG2	liver:	n/a	n/a
4	POLR2A	chr2:190537273-190537517	MCF10A-Er-Src	breast:	n/a	n/a
5	POLR2A	chr2:190536138-190537759	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:190308372..190310331-chr2:190535454..190537876,3	MCF-7	breast:
2	chr2:190536431..190538916-chr2:190646758..190649408,2	K562	blood:

Variant related genes	Relation type
ANKAR	TF binding region
ENSG00000064933	Chromatin interaction
ENSG00000128699	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10209441	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10931429	1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11888722	1.00[AMR][1000 genomes]
rs1225086	1.00[AMR][1000 genomes]
rs1225103	1.00[AMR][1000 genomes]
rs12693550	0.80[YRI][hapmap];1.00[AMR][1000 genomes]
rs1437880	1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1550241	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1550242	1.00[AMR][1000 genomes]
rs2019099	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2118454	0.91[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2254040	0.82[YRI][hapmap];1.00[AMR][1000 genomes]
rs2263968	1.00[AMR][1000 genomes]
rs2352288	0.80[YRI][hapmap];1.00[AMR][1000 genomes]
rs5742992	1.00[AMR][1000 genomes]
rs5742999	1.00[AMR][1000 genomes]
rs5743205	1.00[AMR][1000 genomes]
rs6723158	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs893782	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs893783	0.90[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs930426	0.80[YRI][hapmap];1.00[AMR][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	nsv533029	chr2:189812229-190554339	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190527400-190538400	Weak transcription	Pancreas	Pancrea
2	chr2:190527400-190538400	Weak transcription	Right Ventricle	heart
3	chr2:190527400-190538600	Weak transcription	Esophagus	oesophagus
4	chr2:190527400-190538600	Weak transcription	Gastric	stomach
5	chr2:190527400-190539000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr2:190527600-190538600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr2:190527600-190538600	Weak transcription	Spleen	Spleen
8	chr2:190527600-190539200	Weak transcription	Small Intestine	intestine
9	chr2:190527800-190538400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr2:190527800-190538400	Weak transcription	Psoas Muscle	Psoas
11	chr2:190527800-190538600	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr2:190528200-190537600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr2:190528200-190541600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:190528600-190538000	Weak transcription	Fetal Heart	heart
15	chr2:190528600-190539600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr2:190529000-190537800	Strong transcription	HSMM	muscle
17	chr2:190529800-190537600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
18	chr2:190530000-190537600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr2:190530000-190542800	Strong transcription	Dnd41	blood
20	chr2:190530400-190537800	Strong transcription	Fetal Thymus	thymus
21	chr2:190530400-190538200	Strong transcription	Fetal Muscle Leg	muscle
22	chr2:190531000-190537800	Strong transcription	Duodenum Smooth Muscle	Duodenum
23	chr2:190532400-190538400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr2:190532600-190539000	Weak transcription	Hela-S3	cervix
25	chr2:190533200-190538600	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr2:190533200-190538800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr2:190533200-190538800	Weak transcription	Colonic Mucosa	Colon
28	chr2:190533400-190538600	Weak transcription	Aorta	Aorta
29	chr2:190533400-190539000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr2:190533600-190538400	Weak transcription	HSMMtube	muscle
31	chr2:190533800-190538200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr2:190534000-190537800	Strong transcription	GM12878-XiMat	blood
33	chr2:190534000-190538400	Weak transcription	Brain Anterior Caudate	brain
34	chr2:190534000-190538400	Weak transcription	Rectal Smooth Muscle	rectum
35	chr2:190534000-190538800	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr2:190534000-190550200	Weak transcription	K562	blood
37	chr2:190534200-190538400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr2:190534200-190538400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr2:190534200-190538400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr2:190534200-190538600	Weak transcription	NHEK	skin
41	chr2:190534200-190538800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr2:190534400-190538200	Weak transcription	NHDF-Ad	bronchial
43	chr2:190534400-190538400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr2:190534400-190538600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr2:190534400-190538600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr2:190534400-190538600	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr2:190534400-190538800	Weak transcription	Fetal Kidney	kidney
48	chr2:190534800-190538200	Weak transcription	Colon Smooth Muscle	Colon
49	chr2:190534800-190538600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr2:190535000-190538800	Weak transcription	H1 Cell Line	embryonic stem cell

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