Variant report

Variant	rs6746608
Chromosome Location	chr2:111892984-111892985
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:111891793..111893976-chr2:111895224..111897547,2	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs13396983	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17558117	0.84[CEU][hapmap];0.83[GIH][hapmap];0.82[ASN][1000 genomes]
rs1877331	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1980045	1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2015454	1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.85[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2241843	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2241845	1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.87[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs36018702	0.92[CEU][hapmap];0.84[CHD][hapmap];0.92[GIH][hapmap];0.90[JPT][hapmap];0.91[MEX][hapmap];0.83[TSI][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3827536	0.96[CEU][hapmap];0.91[CHD][hapmap];0.95[GIH][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4848393	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4849417	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4849442	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs616084	0.88[ASN][1000 genomes]
rs616130	0.96[CEU][hapmap];0.84[CHD][hapmap];0.95[GIH][hapmap];0.85[JPT][hapmap];0.95[MEX][hapmap];0.85[TSI][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs616582	0.84[CEU][hapmap];0.81[ASN][1000 genomes]
rs6542334	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6750599	1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6753785	0.92[CEU][hapmap];0.90[JPT][hapmap];0.82[YRI][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6758181	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs676119	0.88[ASN][1000 genomes]
rs7567444	1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.87[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];0.98[TSI][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9308731	1.00[CEU][hapmap];0.82[CHB][hapmap];0.91[CHD][hapmap];0.97[GIH][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874838	chr2:111376870-112046226	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv834331	chr2:111812139-112004678	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv874842	chr2:111870220-111892984	Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv963952	chr2:111883259-111893062	Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6746608	BCL2L11	cis	multi-tissue	Pritchard
rs6746608	BCL2L11	cis	cerebellum	SCAN

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:111881200-111893600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:111881200-111894800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr2:111881200-111904200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr2:111881200-111909600	Weak transcription	NHLF	lung
5	chr2:111881200-111912800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr2:111881600-111893000	Strong transcription	HUES48 Cell Line	embryonic stem cell
7	chr2:111881600-111893200	Weak transcription	Fetal Brain Female	brain
8	chr2:111881600-111897200	Weak transcription	Stomach Mucosa	stomach
9	chr2:111881600-111897400	Weak transcription	Stomach Smooth Muscle	stomach
10	chr2:111881600-111901000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr2:111881600-111904200	Strong transcription	HUES64 Cell Line	embryonic stem cell
12	chr2:111881800-111893000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr2:111881800-111893200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr2:111881800-111893600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
15	chr2:111881800-111894400	Weak transcription	Brain Hippocampus Middle	brain
16	chr2:111881800-111900800	Weak transcription	Fetal Brain Male	brain
17	chr2:111881800-111908600	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr2:111881800-111909600	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr2:111881800-111919800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr2:111883000-111893200	Weak transcription	NH-A	brain
21	chr2:111883000-111893400	Weak transcription	Brain Anterior Caudate	brain
22	chr2:111883200-111894800	Weak transcription	NHEK	skin
23	chr2:111883400-111893000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr2:111883400-111893000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr2:111883400-111893000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr2:111883400-111893000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr2:111883400-111893000	Weak transcription	Brain Substantia Nigra	brain
28	chr2:111883400-111893000	Weak transcription	Esophagus	oesophagus
29	chr2:111883400-111893200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr2:111883400-111893400	Weak transcription	Spleen	Spleen
31	chr2:111883400-111907800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr2:111883400-111909400	Weak transcription	Aorta	Aorta
33	chr2:111883400-111912600	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr2:111883600-111896200	Weak transcription	Gastric	stomach
35	chr2:111883600-111909400	Weak transcription	Brain Cingulate Gyrus	brain
36	chr2:111883600-111909600	Weak transcription	Small Intestine	intestine
37	chr2:111883800-111893400	Weak transcription	Fetal Muscle Trunk	muscle
38	chr2:111883800-111893600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr2:111883800-111897000	Weak transcription	HMEC	breast
40	chr2:111883800-111897600	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr2:111883800-111898400	Weak transcription	Brain Angular Gyrus	brain
42	chr2:111883800-111904000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr2:111884000-111893200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr2:111884000-111894800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr2:111884000-111901600	Weak transcription	Hela-S3	cervix
46	chr2:111884400-111893000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr2:111884600-111909400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr2:111884800-111925400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr2:111885400-111893000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr2:111885400-111893000	Weak transcription	Left Ventricle	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links