Variant report

Variant	rs1131265
Chromosome Location	chr3:119222456-119222457
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:119219516..119223386-chr3:119224346..119229091,6	K562	blood:
2	chr3:119220229..119222944-chr3:119393933..119395853,2	K562	blood:
3	chr3:119181035..119182773-chr3:119221780..119224336,2	MCF-7	breast:
4	chr3:119220784..119223017-chr3:119241149..119243066,2	K562	blood:
5	chr3:119217626..119220478-chr3:119221434..119223355,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000138495	Chromatin interaction
ENSG00000176142	Chromatin interaction
ENSG00000113845	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1132200	0.88[TSI][hapmap]
rs11712863	0.84[AFR][1000 genomes]
rs12494314	0.94[CHB][hapmap];0.90[CHD][hapmap];0.91[TSI][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12636784	1.00[CHB][hapmap];0.94[JPT][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12695388	0.90[LWK][hapmap];0.94[YRI][hapmap]
rs13075568	0.94[YRI][hapmap]
rs13092998	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2293370	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];1.00[LWK][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2305249	1.00[CHB][hapmap];0.92[CHD][hapmap];0.94[TSI][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34844599	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3732421	1.00[CHB][hapmap];0.97[CHD][hapmap];0.94[JPT][hapmap];0.94[TSI][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs57271503	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62264485	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7615155	0.90[LWK][hapmap];0.94[YRI][hapmap]
rs7650774	1.00[CHB][hapmap];0.97[CHD][hapmap];0.94[JPT][hapmap];0.94[TSI][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9833154	0.82[AFR][1000 genomes]
rs9843355	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9855065	1.00[CHB][hapmap];0.89[CHD][hapmap];0.94[TSI][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9884090	0.94[CHB][hapmap];0.87[CHD][hapmap];0.91[TSI][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]

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	nsv829695	chr3:119178890-119367996	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119218000-119224400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr3:119218000-119225000	Weak transcription	Gastric	stomach
3	chr3:119218000-119231800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr3:119218000-119236600	Weak transcription	Aorta	Aorta
5	chr3:119218600-119222800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr3:119218600-119223000	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr3:119218600-119224600	Weak transcription	Brain Germinal Matrix	brain
8	chr3:119218600-119225000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr3:119218600-119225000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr3:119218600-119225000	Weak transcription	Lung	lung
11	chr3:119218600-119231800	Weak transcription	Spleen	Spleen
12	chr3:119218600-119234400	Weak transcription	Colonic Mucosa	Colon
13	chr3:119218600-119236600	Weak transcription	Esophagus	oesophagus
14	chr3:119218800-119225000	Weak transcription	Thymus	Thymus
15	chr3:119218800-119233000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr3:119219000-119222600	Weak transcription	Primary B cells from cord blood	blood
17	chr3:119219000-119222600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr3:119219000-119222800	Weak transcription	Fetal Muscle Leg	muscle
19	chr3:119219000-119224600	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr3:119219000-119235800	Weak transcription	Fetal Kidney	kidney
21	chr3:119219400-119236800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr3:119219600-119224000	Weak transcription	NHDF-Ad	bronchial
23	chr3:119219600-119237000	Weak transcription	Small Intestine	intestine
24	chr3:119219800-119222600	Weak transcription	NH-A	brain
25	chr3:119219800-119222800	Weak transcription	Brain Angular Gyrus	brain
26	chr3:119219800-119224600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr3:119219800-119228000	Strong transcription	H1 Cell Line	embryonic stem cell
28	chr3:119219800-119231000	Strong transcription	HUES48 Cell Line	embryonic stem cell
29	chr3:119219800-119232000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr3:119219800-119232000	Weak transcription	Brain Substantia Nigra	brain
31	chr3:119219800-119233600	Weak transcription	Ovary	ovary
32	chr3:119219800-119235800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr3:119219800-119239200	Strong transcription	HUES64 Cell Line	embryonic stem cell
34	chr3:119220000-119222600	Weak transcription	Fetal Lung	lung
35	chr3:119220000-119222600	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr3:119220000-119222800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr3:119220000-119222800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr3:119220000-119222800	Weak transcription	Colon Smooth Muscle	Colon
39	chr3:119220000-119223000	Weak transcription	Right Ventricle	heart
40	chr3:119220000-119223000	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr3:119220000-119223000	Weak transcription	Stomach Smooth Muscle	stomach
42	chr3:119220000-119224600	Weak transcription	Rectal Smooth Muscle	rectum
43	chr3:119220000-119225000	Weak transcription	Pancreas	Pancrea
44	chr3:119220000-119226400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr3:119220000-119226600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr3:119220000-119226600	Weak transcription	HSMMtube	muscle
47	chr3:119220000-119231800	Weak transcription	Fetal Brain Male	brain
48	chr3:119220000-119243600	Strong transcription	HUES6 Cell Line	embryonic stem cell
49	chr3:119220200-119222600	Weak transcription	K562	blood
50	chr3:119220200-119223000	Weak transcription	NHLF	lung

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