Variant report

Variant	rs11174735
Chromosome Location	chr12:40406512-40406513
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	12:40402537-40410050..12:40703633-40711447	GM12878	blood:
2	12:40402537-40410050..12:40497414-40501128	K562	blood:
3	12:40402537-40410050..12:40687302-40691796	GM12878	blood:
4	chr12:40399921..40402831-chr12:40405268..40407402,2	MCF-7	breast:
5	12:40402537-40410050..12:40793507-40812339	GM12878	blood:

Variant related genes	Relation type
ENSG00000205592	Chromatin interaction
ENSG00000188906	Chromatin interaction
ENSG00000151229	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10454013	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10506141	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10877929	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10878029	0.93[JPT][hapmap];0.88[ASN][1000 genomes]
rs11174918	0.93[JPT][hapmap];0.88[ASN][1000 genomes]
rs11174998	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11175021	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11175027	1.00[CEU][hapmap];0.93[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11175090	1.00[CEU][hapmap];0.93[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11175094	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11175106	1.00[CEU][hapmap];0.93[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11175409	0.87[ASN][1000 genomes]
rs11175456	0.87[ASN][1000 genomes]
rs11564157	0.87[ASN][1000 genomes]
rs11564215	0.83[EUR][1000 genomes]
rs11564279	0.93[JPT][hapmap];0.87[ASN][1000 genomes]
rs12228213	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1542594	0.82[CHD][hapmap];0.93[JPT][hapmap];0.89[ASN][1000 genomes]
rs1871895	0.93[JPT][hapmap];0.88[ASN][1000 genomes]
rs2101144	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2128276	0.83[CHD][hapmap];0.93[JPT][hapmap];0.86[ASN][1000 genomes]
rs2200085	1.00[CEU][hapmap];0.85[CHB][hapmap];0.93[JPT][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2242367	0.82[CHD][hapmap];0.93[JPT][hapmap];0.89[ASN][1000 genomes]
rs2708445	0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28370636	0.95[EUR][1000 genomes]
rs28370645	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28370647	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28370666	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4533099	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61931530	0.94[EUR][1000 genomes]
rs61933163	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7135815	0.92[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7301226	0.87[ASN][1000 genomes]
rs7302006	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7953143	0.80[CHB][hapmap];0.85[JPT][hapmap];0.82[ASN][1000 genomes]
rs7966132	0.81[ASN][1000 genomes]
rs7966741	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7967369	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7967822	0.83[CHD][hapmap];0.92[JPT][hapmap];0.88[ASN][1000 genomes]
rs7973688	0.87[ASN][1000 genomes]
rs7975693	0.82[CHD][hapmap];0.85[JPT][hapmap]

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	nsv1046428	chr12:40226283-40439843	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv541481	chr12:40226283-40439843	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv1052202	chr12:40322607-40406760	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv899027	chr12:40388510-40428561	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40394000-40410800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr12:40394400-40448400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr12:40402200-40425600	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr12:40405200-40406600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
5	chr12:40405200-40407200	Enhancers	Fetal Heart	heart
6	chr12:40405200-40408600	Enhancers	Rectal Mucosa Donor 31	rectum
7	chr12:40405400-40406800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr12:40405400-40407000	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr12:40405400-40408200	Enhancers	Stomach Mucosa	stomach
10	chr12:40405400-40445200	Weak transcription	K562	blood
11	chr12:40405600-40406600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr12:40405600-40406600	Weak transcription	Fetal Lung	lung
13	chr12:40405600-40407000	Enhancers	Colon Smooth Muscle	Colon
14	chr12:40405600-40407200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr12:40405600-40407800	Enhancers	Duodenum Mucosa	Duodenum
16	chr12:40405600-40409000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr12:40405600-40409200	Weak transcription	Hela-S3	cervix
18	chr12:40405600-40410400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr12:40405600-40417000	Weak transcription	Lung	lung
20	chr12:40405800-40406600	Enhancers	Liver	Liver
21	chr12:40405800-40406600	Weak transcription	Brain Anterior Caudate	brain
22	chr12:40405800-40406800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr12:40405800-40406800	Enhancers	Rectal Smooth Muscle	rectum
24	chr12:40405800-40407200	Enhancers	Osteobl	bone
25	chr12:40405800-40407600	Enhancers	Rectal Mucosa Donor 29	rectum
26	chr12:40405800-40409000	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr12:40405800-40409000	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr12:40405800-40409000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr12:40405800-40409200	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr12:40405800-40409200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr12:40405800-40409200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr12:40405800-40409400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr12:40405800-40409400	Weak transcription	Small Intestine	intestine
34	chr12:40405800-40410200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr12:40405800-40410800	Weak transcription	Aorta	Aorta
36	chr12:40405800-40410800	Weak transcription	Right Ventricle	heart
37	chr12:40405800-40411200	Weak transcription	NHLF	lung
38	chr12:40405800-40412800	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr12:40405800-40414000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr12:40405800-40421000	Weak transcription	Left Ventricle	heart
41	chr12:40405800-40425800	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr12:40405800-40426000	Weak transcription	Pancreas	Pancrea
43	chr12:40406000-40409000	Weak transcription	A549	lung
44	chr12:40406000-40423200	Weak transcription	Monocytes-CD14+_RO01746	blood
45	chr12:40406200-40406600	Flanking Active TSS	NHDF-Ad	bronchial
46	chr12:40406200-40406800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr12:40406400-40406600	Enhancers	Brain Hippocampus Middle	brain
48	chr12:40406400-40406600	Enhancers	Brain Inferior Temporal Lobe	brain
49	chr12:40406400-40406600	Active TSS	Right Atrium	heart
50	chr12:40406400-40406600	Enhancers	Stomach Smooth Muscle	stomach

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