Variant report

Variant	rs11918598
Chromosome Location	chr3:119024937-119024938
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:119023465..119026044-chr3:119041239..119043477,3	MCF-7	breast:
2	chr3:119016211..119028042-chr3:119037960..119043695,12	MCF-7	breast:
3	chr3:119013595..119015497-chr3:119024900..119028569,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000241155	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10511385	0.85[CEU][hapmap]
rs11926284	0.98[ASN][1000 genomes]
rs12493383	0.80[MEX][hapmap]
rs12637189	0.86[JPT][hapmap];0.91[ASN][1000 genomes]
rs1542233	0.80[MEX][hapmap]
rs16829649	0.85[CEU][hapmap]
rs16829716	0.89[JPT][hapmap]
rs17281577	0.93[CEU][hapmap];0.89[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap];0.86[ASN][1000 genomes]
rs4687993	0.80[MEX][hapmap]
rs4687995	0.80[MEX][hapmap]
rs56176656	0.91[ASN][1000 genomes]
rs724653	1.00[CEU][hapmap];0.91[GIH][hapmap];0.95[MEX][hapmap];0.87[TSI][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7620780	0.80[MEX][hapmap]
rs7622994	0.80[MEX][hapmap]
rs7625392	0.87[MEX][hapmap]
rs9839704	0.85[CEU][hapmap]
rs9843001	0.81[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3487859	chr3:118570588-119419623	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	esv3487860	chr3:118570588-119419623	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv829694	chr3:119011488-119153579	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11918598	CD86	cis	cerebellum	SCAN
rs11918598	IQCB1	cis	cerebellum	SCAN

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119014200-119029800	Weak transcription	Gastric	stomach
2	chr3:119014200-119032800	Weak transcription	Pancreas	Pancrea
3	chr3:119015000-119028600	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr3:119015000-119041200	Weak transcription	Aorta	Aorta
5	chr3:119015200-119041000	Weak transcription	Fetal Kidney	kidney
6	chr3:119016000-119035400	Weak transcription	Fetal Brain Male	brain
7	chr3:119016000-119041000	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr3:119016400-119040800	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr3:119016400-119041000	Weak transcription	Fetal Intestine Small	intestine
10	chr3:119016600-119025000	Genic enhancers	Cortex derived primary cultured neurospheres	brain
11	chr3:119017200-119025000	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr3:119017400-119029800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr3:119017400-119040600	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr3:119017600-119032400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr3:119018800-119032800	Weak transcription	Thymus	Thymus
16	chr3:119019200-119026000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr3:119019200-119040800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr3:119020400-119029800	Weak transcription	Colonic Mucosa	Colon
19	chr3:119020400-119040600	Weak transcription	Esophagus	oesophagus
20	chr3:119020800-119030400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr3:119020800-119032400	Weak transcription	Fetal Muscle Trunk	muscle
22	chr3:119021000-119027200	Weak transcription	Brain Substantia Nigra	brain
23	chr3:119021000-119030400	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr3:119021000-119032400	Weak transcription	Primary T cells from cord blood	blood
25	chr3:119021200-119041000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr3:119021200-119041000	Weak transcription	Fetal Thymus	thymus
27	chr3:119021600-119025000	Enhancers	HSMMtube	muscle
28	chr3:119022000-119025800	Enhancers	NH-A	brain
29	chr3:119022000-119026200	Enhancers	HSMM	muscle
30	chr3:119022000-119032400	Weak transcription	Duodenum Mucosa	Duodenum
31	chr3:119022200-119029000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr3:119022200-119040800	Weak transcription	Brain Angular Gyrus	brain
33	chr3:119022400-119025000	Enhancers	Right Ventricle	heart
34	chr3:119022400-119029000	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr3:119022400-119040600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr3:119022400-119041000	Weak transcription	Primary B cells from cord blood	blood
37	chr3:119022400-119041000	Weak transcription	Fetal Intestine Large	intestine
38	chr3:119022400-119041200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr3:119022600-119028800	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr3:119022600-119029000	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr3:119022600-119029000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr3:119022600-119029000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr3:119022600-119032600	Weak transcription	Stomach Smooth Muscle	stomach
44	chr3:119022600-119040600	Weak transcription	Primary B cells from peripheral blood	blood
45	chr3:119023400-119026400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr3:119023400-119027000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr3:119023400-119028200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr3:119023600-119026200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr3:119023600-119027200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr3:119023600-119028000	Weak transcription	HMEC	breast

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