Variant report

Variant	rs11174732
Chromosome Location	chr12:40405868-40405869
allele	C/G
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
ENSG00000151229	Chromatin interaction
ENSG00000188906	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10747989	1.00[JPT][hapmap]
rs11564162	1.00[ASW][hapmap];0.90[CHB][hapmap];0.92[CHD][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs7954510	1.00[ASW][hapmap];0.90[CHB][hapmap];0.92[CHD][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.87[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	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:56 , 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	chr12:40405000-40406000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr12:40405200-40406600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
6	chr12:40405200-40407200	Enhancers	Fetal Heart	heart
7	chr12:40405200-40408600	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr12:40405400-40406000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
9	chr12:40405400-40406800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr12:40405400-40407000	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr12:40405400-40408200	Enhancers	Stomach Mucosa	stomach
12	chr12:40405400-40445200	Weak transcription	K562	blood
13	chr12:40405600-40406000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr12:40405600-40406000	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr12:40405600-40406000	Enhancers	A549	lung
16	chr12:40405600-40406200	Weak transcription	Fetal Intestine Small	intestine
17	chr12:40405600-40406200	Enhancers	NHDF-Ad	bronchial
18	chr12:40405600-40406400	Weak transcription	Fetal Intestine Large	intestine
19	chr12:40405600-40406600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr12:40405600-40406600	Weak transcription	Fetal Lung	lung
21	chr12:40405600-40407000	Enhancers	Colon Smooth Muscle	Colon
22	chr12:40405600-40407200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr12:40405600-40407800	Enhancers	Duodenum Mucosa	Duodenum
24	chr12:40405600-40409000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr12:40405600-40409200	Weak transcription	Hela-S3	cervix
26	chr12:40405600-40410400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr12:40405600-40417000	Weak transcription	Lung	lung
28	chr12:40405800-40406000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr12:40405800-40406200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr12:40405800-40406200	Weak transcription	HUVEC	blood vessel
31	chr12:40405800-40406400	Weak transcription	Brain Hippocampus Middle	brain
32	chr12:40405800-40406400	Enhancers	Right Atrium	heart
33	chr12:40405800-40406400	Weak transcription	Stomach Smooth Muscle	stomach
34	chr12:40405800-40406600	Enhancers	Liver	Liver
35	chr12:40405800-40406600	Weak transcription	Brain Anterior Caudate	brain
36	chr12:40405800-40406800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr12:40405800-40406800	Enhancers	Rectal Smooth Muscle	rectum
38	chr12:40405800-40407200	Enhancers	Osteobl	bone
39	chr12:40405800-40407600	Enhancers	Rectal Mucosa Donor 29	rectum
40	chr12:40405800-40409000	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr12:40405800-40409000	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr12:40405800-40409000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr12:40405800-40409200	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr12:40405800-40409200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr12:40405800-40409200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr12:40405800-40409400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr12:40405800-40409400	Weak transcription	Small Intestine	intestine
48	chr12:40405800-40410200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr12:40405800-40410800	Weak transcription	Aorta	Aorta
50	chr12:40405800-40410800	Weak transcription	Right Ventricle	heart

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