Variant report

Variant	rs11574066
Chromosome Location	chr12:48258635-48258636
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:48250736..48253195-chr12:48257010..48258764,2	K562	blood:
2	chr12:48099366..48102258-chr12:48258049..48260587,2	K562	blood:
3	chr12:48257014..48259874-chr12:48263777..48265947,2	K562	blood:
4	chr12:48251376..48253376-chr12:48257351..48259785,2	MCF-7	breast:
5	chr12:48228405..48229977-chr12:48256176..48258937,2	K562	blood:

Variant related genes	Relation type
ENSG00000257433	Chromatin interaction
ENSG00000005175	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs17122571	1.00[CHB][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	nsv1036804	chr12:48114026-48287048	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
2	nsv1052034	chr12:48146633-48287048	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
3	nsv1048466	chr12:48195350-48262541	Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
4	nsv541488	chr12:48195350-48262541	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48227200-48261200	Weak transcription	HSMM	muscle
2	chr12:48231400-48261400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr12:48232400-48263800	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr12:48232400-48276600	Weak transcription	Pancreas	Pancrea
5	chr12:48233000-48275200	Weak transcription	Hela-S3	cervix
6	chr12:48236600-48259400	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr12:48237000-48259000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr12:48237000-48261800	Strong transcription	Rectal Mucosa Donor 29	rectum
9	chr12:48237400-48261200	Weak transcription	NH-A	brain
10	chr12:48240000-48261200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr12:48241200-48263800	Weak transcription	Rectal Smooth Muscle	rectum
12	chr12:48243400-48263600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr12:48245400-48274000	Weak transcription	Small Intestine	intestine
14	chr12:48246200-48261200	Weak transcription	Placenta	Placenta
15	chr12:48246400-48261600	Weak transcription	Primary B cells from cord blood	blood
16	chr12:48246400-48263800	Weak transcription	Right Atrium	heart
17	chr12:48246600-48261800	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr12:48246800-48259000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr12:48247800-48260600	Strong transcription	Sigmoid Colon	Sigmoid Colon
20	chr12:48248200-48259200	Strong transcription	Rectal Mucosa Donor 31	rectum
21	chr12:48248200-48259200	Strong transcription	HSMMtube	muscle
22	chr12:48248200-48275800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr12:48250800-48259200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr12:48251400-48261600	Weak transcription	Aorta	Aorta
25	chr12:48252200-48258800	Genic enhancers	Duodenum Mucosa	Duodenum
26	chr12:48253000-48276800	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr12:48253200-48264200	Weak transcription	Stomach Mucosa	stomach
28	chr12:48254200-48259000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr12:48254200-48259200	Strong transcription	Primary monocytes fromperipheralblood	blood
30	chr12:48254200-48259400	Genic enhancers	HMEC	breast
31	chr12:48254600-48261200	Weak transcription	NHDF-Ad	bronchial
32	chr12:48256400-48258800	Genic enhancers	NHEK	skin
33	chr12:48256400-48259000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr12:48256400-48259000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr12:48256800-48258800	Enhancers	HepG2	liver
36	chr12:48256800-48259000	Strong transcription	Primary neutrophils fromperipheralblood	blood
37	chr12:48256800-48259000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr12:48256800-48259400	Strong transcription	Colonic Mucosa	Colon
39	chr12:48256800-48264600	Strong transcription	Fetal Intestine Small	intestine
40	chr12:48257000-48259200	Strong transcription	Fetal Intestine Large	intestine
41	chr12:48257000-48259400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr12:48257400-48261200	Weak transcription	Osteobl	bone
43	chr12:48257800-48259000	Strong transcription	NHLF	lung
44	chr12:48257800-48261200	Weak transcription	GM12878-XiMat	blood
45	chr12:48258000-48259000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr12:48258000-48261200	Weak transcription	Esophagus	oesophagus
47	chr12:48258000-48261400	Weak transcription	Spleen	Spleen
48	chr12:48258000-48263800	Weak transcription	Fetal Thymus	thymus
49	chr12:48258200-48259000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr12:48258200-48259000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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