Variant report

Variant	rs73191099
Chromosome Location	chr2:11972094-11972095
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:11970530..11972721-chr2:12855210..12856914,2	MCF-7	breast:
2	chr2:11967830..11972620-chr2:11972845..11976949,6	K562	blood:
3	chr2:11971124..11973870-chr2:11976267..11978358,2	K562	blood:
4	chr2:11963181..11965215-chr2:11970246..11972113,2	K562	blood:
5	chr2:11965600..11967514-chr2:11971036..11973517,2	K562	blood:

Variant related genes	Relation type
ENSG00000134324	Chromatin interaction
ENSG00000261117	Chromatin interaction
ENSG00000265172	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs73189040	0.83[AFR][1000 genomes]
rs73189043	0.83[AFR][1000 genomes]
rs73189045	0.81[AFR][1000 genomes]
rs73191095	0.86[AFR][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	nsv1010506	chr2:11430965-12057286	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv535585	chr2:11430965-12057286	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	nsv1003899	chr2:11789374-12248081	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
4	nsv833403	chr2:11944552-12125634	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11970200-11973800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:11970400-11973600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:11970400-11978000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:11970600-11974400	Enhancers	Primary B cells from peripheral blood	blood
5	chr2:11970600-11977000	Weak transcription	Pancreas	Pancrea
6	chr2:11970800-11972200	Enhancers	Primary hematopoietic stem cells	blood
7	chr2:11970800-11972200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr2:11970800-11974200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr2:11970800-11978200	Weak transcription	Right Ventricle	heart
10	chr2:11971000-11972200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:11971000-11972200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr2:11971000-11972400	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr2:11971000-11972400	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr2:11971000-11972400	Enhancers	Primary T helper naive cells from peripheral blood	blood
15	chr2:11971000-11972400	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr2:11971000-11972400	Enhancers	Fetal Stomach	stomach
17	chr2:11971000-11972600	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr2:11971000-11973000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr2:11971000-11973000	Enhancers	Ovary	ovary
20	chr2:11971000-11973600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr2:11971000-11973800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr2:11971000-11974200	Enhancers	Primary B cells from cord blood	blood
23	chr2:11971000-11974400	Weak transcription	Right Atrium	heart
24	chr2:11971000-11974400	Enhancers	Dnd41	blood
25	chr2:11971000-11974600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr2:11971000-11974600	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr2:11971000-11980200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr2:11971200-11972600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr2:11971200-11973800	Enhancers	HepG2	liver
30	chr2:11971200-11973800	Weak transcription	HSMM	muscle
31	chr2:11971200-11973800	Weak transcription	HSMMtube	muscle
32	chr2:11971400-11972200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr2:11971400-11972200	Enhancers	Lung	lung
34	chr2:11971400-11973400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr2:11971400-11973400	Weak transcription	NH-A	brain
36	chr2:11971400-11973400	Weak transcription	NHEK	skin
37	chr2:11971400-11973600	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr2:11971400-11973600	Weak transcription	Fetal Thymus	thymus
39	chr2:11971400-11974000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr2:11971600-11972200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr2:11971600-11972200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr2:11971600-11972400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr2:11971600-11972800	Weak transcription	Fetal Kidney	kidney
44	chr2:11971600-11973400	Weak transcription	Osteobl	bone
45	chr2:11971600-11973600	Weak transcription	HUVEC	blood vessel
46	chr2:11971600-11974600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr2:11971800-11973400	Weak transcription	HMEC	breast
48	chr2:11971800-11973600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr2:11971800-11973800	Weak transcription	Primary T helper cells fromperipheralblood	blood
50	chr2:11972000-11972200	Enhancers	Brain Angular Gyrus	brain

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