Variant report

Variant	rs2232206
Chromosome Location	chr12:50500519-50500520
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:50496807..50498530-chr12:50498901..50501416,2	K562	blood:
2	chr12:50496593..50501221-chr12:50560690..50564425,5	MCF-7	breast:
3	chr12:50457113..50458035-chr12:50500382..50501352,2	K562	blood:
4	chr12:50477670..50481382-chr12:50495555..50500836,7	K562	blood:
5	chr12:50499334..50507442-chr12:50559441..50562987,11	K562	blood:

Variant related genes	Relation type
ENSG00000139624	Chromatin interaction
ENSG00000167588	Chromatin interaction
ENSG00000066117	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs35400945	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045327	chr12:49975040-50551375	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
2	nsv541490	chr12:49975040-50551375	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
3	nsv530671	chr12:50233858-50708991	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
4	esv3392138	chr12:50394642-50645326	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
5	nsv558840	chr12:50449976-50523964	Enhancers Active TSS Genic enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50490600-50504200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:50492200-50504400	Weak transcription	Primary hematopoietic stem cells	blood
3	chr12:50492400-50504800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr12:50492600-50504200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr12:50492600-50504600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr12:50493600-50504400	Weak transcription	Small Intestine	intestine
7	chr12:50494000-50503200	Weak transcription	GM12878-XiMat	blood
8	chr12:50494000-50503400	Weak transcription	Aorta	Aorta
9	chr12:50494000-50503600	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr12:50494000-50504200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr12:50494000-50504400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr12:50494000-50505200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr12:50494800-50503400	Weak transcription	NHDF-Ad	bronchial
14	chr12:50494800-50505000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr12:50495000-50504000	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr12:50495000-50504800	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr12:50495600-50504000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr12:50495600-50504200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr12:50495800-50503000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr12:50495800-50505200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr12:50496000-50503400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr12:50496000-50504200	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr12:50496200-50500800	Weak transcription	Primary B cells from peripheral blood	blood
24	chr12:50496200-50503000	Weak transcription	A549	lung
25	chr12:50496200-50503800	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr12:50496200-50504200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr12:50496200-50504800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr12:50496400-50504600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr12:50496600-50503000	Weak transcription	Thymus	Thymus
30	chr12:50496600-50503800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr12:50496600-50503800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr12:50496600-50504400	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr12:50496600-50504600	Weak transcription	Primary T cells from cord blood	blood
34	chr12:50496800-50503400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr12:50496800-50504800	Weak transcription	Primary neutrophils fromperipheralblood	blood
36	chr12:50498000-50503400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr12:50498000-50503800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr12:50498200-50503200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr12:50498200-50503400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr12:50498200-50503600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr12:50498400-50501800	Weak transcription	Hela-S3	cervix
42	chr12:50498400-50503200	Weak transcription	Spleen	Spleen
43	chr12:50498400-50503800	Weak transcription	HSMM	muscle
44	chr12:50498400-50503800	Weak transcription	NHEK	skin
45	chr12:50498600-50502400	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
46	chr12:50498600-50503000	Weak transcription	Colonic Mucosa	Colon
47	chr12:50498600-50503000	Weak transcription	Esophagus	oesophagus
48	chr12:50498600-50503000	Weak transcription	Fetal Heart	heart
49	chr12:50498600-50503000	Weak transcription	Pancreas	Pancrea
50	chr12:50498600-50503000	Weak transcription	K562	blood

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