Variant report

Variant	rs71350081
Chromosome Location	chr2:149224237-149224238
allele	C/T
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	STAT3	chr2:149224166-149224346	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
MBD5	TF binding region

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs13008472	0.87[ASN][1000 genomes]
rs13010376	1.00[ASN][1000 genomes]
rs13014173	1.00[ASN][1000 genomes]
rs13033892	0.87[ASN][1000 genomes]
rs13034925	0.87[ASN][1000 genomes]
rs16828700	0.87[ASN][1000 genomes]
rs17357225	0.87[ASN][1000 genomes]
rs17357457	0.87[ASN][1000 genomes]
rs1979038	1.00[ASN][1000 genomes]
rs2197581	1.00[ASN][1000 genomes]
rs35912812	0.85[EUR][1000 genomes]
rs4972280	0.87[ASN][1000 genomes]
rs6751753	0.87[ASN][1000 genomes]
rs71413618	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71413619	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs765056	0.87[ASN][1000 genomes]
rs940460	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2753542	chr2:149004714-149268503	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1012275	chr2:149031668-149316793	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	esv2751831	chr2:149151358-150105603	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv1000101	chr2:149165813-149361220	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv868861	chr2:149198443-149434604	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv917109	chr2:149198443-149948302	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
7	nsv1004663	chr2:149214090-149373061	Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:149193000-149226000	Weak transcription	Primary hematopoietic stem cells	blood
2	chr2:149198600-149226000	Weak transcription	HSMM	muscle
3	chr2:149208800-149226200	Weak transcription	Fetal Brain Male	brain
4	chr2:149209600-149230200	Weak transcription	Small Intestine	intestine
5	chr2:149210800-149227800	Weak transcription	HUVEC	blood vessel
6	chr2:149212200-149225600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr2:149214000-149227800	Weak transcription	HepG2	liver
8	chr2:149214200-149225800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr2:149214200-149226000	Weak transcription	Placenta	Placenta
10	chr2:149214400-149226000	Weak transcription	Fetal Muscle Trunk	muscle
11	chr2:149214600-149228600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr2:149214800-149225800	Weak transcription	Thymus	Thymus
13	chr2:149214800-149226400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr2:149214800-149226600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr2:149215000-149246800	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr2:149215400-149226000	Weak transcription	Brain Hippocampus Middle	brain
17	chr2:149215800-149226000	Weak transcription	Right Ventricle	heart
18	chr2:149216000-149224600	Weak transcription	Esophagus	oesophagus
19	chr2:149216400-149225800	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr2:149216400-149226000	Weak transcription	Left Ventricle	heart
21	chr2:149216600-149225600	Weak transcription	Psoas Muscle	Psoas
22	chr2:149216600-149226000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr2:149216600-149226000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr2:149216600-149226600	Weak transcription	Fetal Intestine Small	intestine
25	chr2:149217000-149228800	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr2:149217200-149226000	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr2:149217200-149231600	Weak transcription	Rectal Smooth Muscle	rectum
28	chr2:149217400-149226600	Weak transcription	Fetal Heart	heart
29	chr2:149217600-149225600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr2:149217800-149232600	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr2:149219200-149226000	Weak transcription	Brain Germinal Matrix	brain
32	chr2:149219600-149226000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr2:149219800-149226000	Weak transcription	Colon Smooth Muscle	Colon
34	chr2:149219800-149226800	Weak transcription	Aorta	Aorta
35	chr2:149220000-149225800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr2:149220000-149225800	Weak transcription	Pancreas	Pancrea
37	chr2:149220000-149226000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr2:149220000-149226000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr2:149220000-149226000	Weak transcription	Liver	Liver
40	chr2:149220000-149226000	Weak transcription	GM12878-XiMat	blood
41	chr2:149220000-149226600	Weak transcription	Fetal Kidney	kidney
42	chr2:149220000-149228000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr2:149220000-149229400	Weak transcription	NHDF-Ad	bronchial
44	chr2:149220200-149225000	Weak transcription	Monocytes-CD14+_RO01746	blood
45	chr2:149220200-149225400	Weak transcription	Fetal Brain Female	brain
46	chr2:149220200-149226000	Weak transcription	Primary B cells from peripheral blood	blood
47	chr2:149220200-149226000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr2:149220200-149226000	Weak transcription	Brain Anterior Caudate	brain
49	chr2:149220200-149226000	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr2:149220200-149228000	Weak transcription	Primary monocytes fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links