Variant report

Variant	rs861256
Chromosome Location	chr11:33747333-33747334
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:33747231-33747415	HUVEC	blood vessel:	n/a	n/a
2	POLR2A	chr11:33746724-33747585	HUVEC	blood vessel:	n/a	n/a
3	POLR2A	chr11:33746818-33747460	HUVEC	blood vessel:	n/a	n/a
4	GATA2	chr11:33747117-33747571	HUVEC	blood vessel:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:33735999..33748184-chr11:33752891..33760863,45	MCF-7	breast:
2	chr11:33740386..33747828-chr11:33750725..33760528,16	K562	blood:
3	chr11:33738010..33741280-chr11:33742566..33747348,4	MCF-7	breast:
4	chr11:33740434..33748761-chr11:33752749..33759182,20	MCF-7	breast:
5	chr11:33745841..33747448-chr11:33762881..33764891,2	K562	blood:

No data

Variant related genes	Relation type
CD59	TF binding region
ENSG00000085063	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10768025	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs10836107	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs1096561	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11032367	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11032373	0.97[ASN][1000 genomes]
rs1112841	1.00[CHB][hapmap];0.98[CHD][hapmap];0.85[GIH][hapmap];0.90[JPT][hapmap];0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12224154	0.87[GIH][hapmap];0.80[MEX][hapmap]
rs12806824	1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs1522085	1.00[ASW][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.85[GIH][hapmap];0.95[JPT][hapmap];0.84[MEX][hapmap];0.82[MKK][hapmap];0.96[YRI][hapmap];0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs1718067	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2252927	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2272064	1.00[ASW][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.85[GIH][hapmap];0.95[JPT][hapmap];0.84[MEX][hapmap];0.96[YRI][hapmap];0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2686245	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2746601	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2746602	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4348870	1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs6484665	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7046	1.00[CEU][hapmap];0.84[GIH][hapmap];0.92[MEX][hapmap];0.86[TSI][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs704697	0.81[CEU][hapmap]
rs7116243	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7938603	0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs831592	1.00[ASW][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.85[GIH][hapmap];0.95[JPT][hapmap];0.84[MEX][hapmap];0.82[MKK][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs831595	1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs831611	0.83[MEX][hapmap]
rs831617	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs831618	0.81[CEU][hapmap]
rs831625	0.96[CEU][hapmap];0.93[GIH][hapmap];0.92[MEX][hapmap];0.95[TSI][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs831629	1.00[CEU][hapmap];0.86[CHB][hapmap];0.93[GIH][hapmap];0.85[JPT][hapmap];0.92[MEX][hapmap];0.95[TSI][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs831631	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs831633	0.95[CEU][hapmap];0.81[CHB][hapmap];0.85[JPT][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs831635	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.94[EUR][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	nsv832113	chr11:33609202-33767781	Transcr. at gene 5' and 3' Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs861256	CD59	cis	parietal	SCAN
rs861256	CD59	cis	cerebellum	SCAN
rs861256	CD59	cis	Esophagus Muscularis	GTEx
rs861256	CD59	Cis_1M	lymphoblastoid	RTeQTL
rs861256	CD59	cis	Artery Tibial	GTEx

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:33723400-33753400	Weak transcription	Primary B cells from cord blood	blood
2	chr11:33738600-33747400	Genic enhancers	NHEK	skin
3	chr11:33738800-33747600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr11:33741000-33752000	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr11:33743800-33747600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr11:33744000-33755400	Weak transcription	Brain Germinal Matrix	brain
7	chr11:33744000-33755800	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr11:33744000-33756400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr11:33744200-33749600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr11:33744200-33755600	Weak transcription	Fetal Brain Female	brain
11	chr11:33744400-33747400	Enhancers	Sigmoid Colon	Sigmoid Colon
12	chr11:33744400-33756200	Weak transcription	Primary T cells from cord blood	blood
13	chr11:33744600-33747800	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr11:33744600-33755400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr11:33744800-33753600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr11:33744800-33754600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr11:33745000-33753400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr11:33745400-33747400	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr11:33745400-33756200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr11:33745600-33747600	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr11:33745800-33747800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr11:33746000-33747400	Active TSS	Fetal Brain Male	brain
23	chr11:33746200-33747400	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr11:33746200-33752200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr11:33746200-33754000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr11:33746200-33756200	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr11:33746400-33747400	Enhancers	GM12878-XiMat	blood
28	chr11:33746400-33747400	Enhancers	K562	blood
29	chr11:33746400-33747600	Genic enhancers	Muscle Satellite Cultured Cells	--
30	chr11:33746400-33751600	Weak transcription	Fetal Intestine Large	intestine
31	chr11:33746400-33751800	Weak transcription	Liver	Liver
32	chr11:33746400-33752000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr11:33746400-33753000	Weak transcription	Primary neutrophils fromperipheralblood	blood
34	chr11:33746400-33753000	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr11:33746400-33753000	Weak transcription	Aorta	Aorta
36	chr11:33746400-33753000	Weak transcription	Lung	lung
37	chr11:33746400-33753000	Weak transcription	Pancreas	Pancrea
38	chr11:33746400-33753000	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr11:33746400-33753000	Weak transcription	Small Intestine	intestine
40	chr11:33746400-33753400	Weak transcription	Colonic Mucosa	Colon
41	chr11:33746400-33755200	Weak transcription	Fetal Muscle Trunk	muscle
42	chr11:33746400-33755600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr11:33746600-33747400	Enhancers	Colon Smooth Muscle	Colon
44	chr11:33746600-33747400	Genic enhancers	A549	lung
45	chr11:33746600-33747400	Genic enhancers	Hela-S3	cervix
46	chr11:33746600-33747400	Genic enhancers	NHDF-Ad	bronchial
47	chr11:33746600-33747600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr11:33746600-33751200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr11:33746600-33751600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr11:33746600-33751600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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