Variant report

Variant	rs11171636
Chromosome Location	chr12:56040277-56040278
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:56039945..56040469-chr17:56756459..56757101,2	HCT-116	colon:
2	chr12:56040086..56042095-chr12:56114770..56116489,2	MCF-7	breast:
3	chr12:55552029..55554252-chr12:56038940..56041614,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000224622	Chromatin interaction
ENSG00000135437	Chromatin interaction
ENSG00000200997	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10876841	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11171632	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11171638	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3858536	0.84[EUR][1000 genomes]
rs7952953	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv559001	chr12:55507465-56057708	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
2	nsv948625	chr12:55838718-56118833	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56033800-56041400	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr12:56039200-56040600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
3	chr12:56039200-56040600	Enhancers	Primary T helper naive cells from peripheral blood	blood
4	chr12:56039200-56041200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
5	chr12:56039800-56040400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr12:56039800-56040400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr12:56039800-56040400	Enhancers	Primary T cells from cord blood	blood
8	chr12:56039800-56040400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
9	chr12:56039800-56040400	Active TSS	Colonic Mucosa	Colon
10	chr12:56039800-56040400	Active TSS	Rectal Mucosa Donor 29	rectum
11	chr12:56039800-56040600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
12	chr12:56039800-56040600	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr12:56039800-56040600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr12:56039800-56040600	Active TSS	Duodenum Smooth Muscle	Duodenum
15	chr12:56039800-56040600	Active TSS	Osteobl	bone
16	chr12:56039800-56040800	Enhancers	Fetal Thymus	thymus
17	chr12:56039800-56041200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
18	chr12:56040000-56040400	Active TSS	Primary B cells from cord blood	blood
19	chr12:56040000-56040400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
20	chr12:56040000-56040400	Active TSS	Primary T helper cells fromperipheralblood	blood
21	chr12:56040000-56040400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
22	chr12:56040000-56040400	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr12:56040000-56040400	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr12:56040000-56040400	Active TSS	Brain Anterior Caudate	brain
25	chr12:56040000-56040400	Enhancers	Brain Inferior Temporal Lobe	brain
26	chr12:56040000-56040400	Active TSS	Esophagus	oesophagus
27	chr12:56040000-56040400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
28	chr12:56040000-56040400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
29	chr12:56040000-56040400	Flanking Active TSS	Placenta	Placenta
30	chr12:56040000-56040400	Active TSS	Rectal Mucosa Donor 31	rectum
31	chr12:56040000-56040400	Flanking Active TSS	Spleen	Spleen
32	chr12:56040000-56040600	Active TSS	Brain Hippocampus Middle	brain
33	chr12:56040000-56040600	Active TSS	Colon Smooth Muscle	Colon
34	chr12:56040000-56040600	Flanking Active TSS	Pancreas	Pancrea
35	chr12:56040000-56040600	Enhancers	Placenta Amnion	Placenta Amnion
36	chr12:56040000-56040600	Flanking Active TSS	Right Atrium	heart
37	chr12:56040000-56040800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr12:56040200-56040400	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
39	chr12:56040200-56040400	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr12:56040200-56040400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr12:56040200-56040400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
42	chr12:56040200-56040400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr12:56040200-56040400	Active TSS	iPS-15b Cell Line	embryonic stem cell
44	chr12:56040200-56040400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr12:56040200-56040400	Active TSS	Breast Myoepithelial Primary Cells	Breast
46	chr12:56040200-56040400	Flanking Active TSS	Primary B cells from peripheral blood	blood
47	chr12:56040200-56040400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr12:56040200-56040400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr12:56040200-56040400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr12:56040200-56040400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links