Variant report

Variant	rs74085267
Chromosome Location	chr12:48274385-48274386
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EBF1	chr12:48274064-48274582	GM12878	blood:	n/a	n/a
2	RUNX3	chr12:48274053-48274594	GM12878	blood:	n/a	n/a
3	NFIC	chr12:48274086-48274594	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:48273218..48274865-chr12:48276645..48278883,2	K562	blood:
2	chr12:48266844..48269897-chr12:48272590..48275267,3	K562	blood:
3	chr12:48272830..48274832-chr12:48276414..48278883,3	K562	blood:

Variant related genes	Relation type
ENSG00000205537	TF binding region
ENSG00000111424	Chromatin interaction
ENSG00000205537	Chromatin interaction

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

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

rs_ID	r²[population]
rs11574034	1.00[AMR][1000 genomes]
rs61052939	1.00[AMR][1000 genomes]
rs74085276	1.00[AMR][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	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

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48232400-48276600	Weak transcription	Pancreas	Pancrea
2	chr12:48233000-48275200	Weak transcription	Hela-S3	cervix
3	chr12:48248200-48275800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr12:48253000-48276800	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr12:48261600-48276000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr12:48262000-48296800	Weak transcription	Aorta	Aorta
7	chr12:48262200-48275400	Strong transcription	Rectal Mucosa Donor 31	rectum
8	chr12:48262800-48275600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr12:48263000-48275400	Weak transcription	Primary B cells from cord blood	blood
10	chr12:48264600-48275800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr12:48264600-48275800	Weak transcription	Stomach Mucosa	stomach
12	chr12:48264800-48275000	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr12:48264800-48276800	Weak transcription	Rectal Smooth Muscle	rectum
14	chr12:48265000-48274400	Strong transcription	Rectal Mucosa Donor 29	rectum
15	chr12:48265000-48276000	Weak transcription	Stomach Smooth Muscle	stomach
16	chr12:48265000-48276800	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr12:48265000-48283200	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr12:48265600-48275600	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr12:48266000-48275200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr12:48266400-48275200	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr12:48270200-48276200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr12:48270600-48275200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr12:48270800-48275800	Weak transcription	Placenta	Placenta
24	chr12:48271000-48274600	Strong transcription	HSMMtube	muscle
25	chr12:48271600-48275600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr12:48272000-48275600	Strong transcription	NHEK	skin
27	chr12:48272200-48275600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr12:48272600-48275000	Weak transcription	HSMM	muscle
29	chr12:48272800-48274600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr12:48272800-48274800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr12:48272800-48275200	Weak transcription	NH-A	brain
32	chr12:48272800-48275600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr12:48272800-48275600	Weak transcription	Spleen	Spleen
34	chr12:48273000-48275000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr12:48273000-48275800	Weak transcription	Esophagus	oesophagus
36	chr12:48273000-48276000	Weak transcription	Lung	lung
37	chr12:48273200-48275800	Weak transcription	Gastric	stomach
38	chr12:48273200-48276400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr12:48273400-48274800	Weak transcription	NHLF	lung
40	chr12:48273400-48275000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr12:48273600-48275000	Weak transcription	Fetal Intestine Large	intestine
42	chr12:48273600-48275400	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr12:48273600-48277200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr12:48273800-48275600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr12:48273800-48275600	Enhancers	GM12878-XiMat	blood
46	chr12:48273800-48276600	Weak transcription	Colonic Mucosa	Colon
47	chr12:48273800-48276600	Weak transcription	Fetal Muscle Leg	muscle
48	chr12:48273800-48278800	Enhancers	NHDF-Ad	bronchial
49	chr12:48274000-48274600	Enhancers	Small Intestine	intestine
50	chr12:48274000-48275000	Weak transcription	Primary neutrophils fromperipheralblood	blood

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