Variant report

Variant	rs3770239
Chromosome Location	chr2:96918245-96918246
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:96910587..96913390-chr2:96917346..96919130,3	K562	blood:
2	chr2:96916178..96919434-chr2:96924086..96927437,4	K562	blood:
3	chr2:96917354..96918976-chr2:96924629..96926448,2	MCF-7	breast:
4	chr2:96916333..96921176-chr2:96924112..96927591,7	MCF-7	breast:
5	chr2:96874452..96876033-chr2:96917329..96919794,2	MCF-7	breast:
6	chr2:96917948..96919887-chr2:96921389..96924454,3	MCF-7	breast:
7	chr2:96872741..96875281-chr2:96915493..96919582,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000084090	Chromatin interaction
ENSG00000204685	Chromatin interaction
ENSG00000135956	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11164061	1.00[CHB][hapmap];0.81[JPT][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12613184	1.00[EUR][1000 genomes]
rs2276651	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.81[JPT][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3214060	1.00[EUR][1000 genomes]
rs3751807	0.81[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933671	chr2:96739308-97652262	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv1000780	chr2:96740430-97671395	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
3	nsv535826	chr2:96740430-97671395	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
4	nsv874677	chr2:96756547-97717345	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
5	nsv1001204	chr2:96766559-97728507	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription 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	162 gene(s)	inside rSNPs	diseases
6	nsv535827	chr2:96766559-97728507	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS 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 miRNA target site	162 gene(s)	inside rSNPs	diseases
7	nsv834305	chr2:96848898-97019476	Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
8	nsv874679	chr2:96860971-97184160	Strong transcription Active TSS Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:96899600-96918800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr2:96905800-96918400	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr2:96907400-96918800	Weak transcription	Small Intestine	intestine
4	chr2:96912200-96922400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr2:96913600-96919400	Weak transcription	Hela-S3	cervix
6	chr2:96914400-96920600	Strong transcription	Primary neutrophils fromperipheralblood	blood
7	chr2:96914400-96924800	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr2:96914400-96929800	Strong transcription	Fetal Stomach	stomach
9	chr2:96914600-96918400	Genic enhancers	Primary monocytes fromperipheralblood	blood
10	chr2:96915000-96918600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr2:96915200-96920400	Strong transcription	Primary T cells from cord blood	blood
12	chr2:96915200-96921000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr2:96915200-96921600	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr2:96915200-96922000	Strong transcription	Thymus	Thymus
15	chr2:96915200-96922200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr2:96915400-96920600	Strong transcription	Primary B cells from cord blood	blood
17	chr2:96915400-96920600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr2:96915400-96925000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr2:96915600-96920200	Strong transcription	Primary B cells from peripheral blood	blood
20	chr2:96915600-96920200	Strong transcription	Primary T helper cells fromperipheralblood	blood
21	chr2:96916000-96921800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr2:96916000-96924800	Strong transcription	Fetal Thymus	thymus
23	chr2:96916000-96929400	Strong transcription	Dnd41	blood
24	chr2:96916200-96918400	Enhancers	HUVEC	blood vessel
25	chr2:96916200-96919800	Strong transcription	Lung	lung
26	chr2:96916400-96921800	Strong transcription	Duodenum Smooth Muscle	Duodenum
27	chr2:96916600-96922600	Strong transcription	Rectal Mucosa Donor 29	rectum
28	chr2:96916800-96918400	Genic enhancers	Muscle Satellite Cultured Cells	--
29	chr2:96916800-96918400	Enhancers	NH-A	brain
30	chr2:96916800-96920800	Genic enhancers	Monocytes-CD14+_RO01746	blood
31	chr2:96917000-96919600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr2:96917000-96920400	Strong transcription	Primary T cells fromperipheralblood	blood
33	chr2:96917000-96920400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr2:96917200-96921600	Strong transcription	NHEK	skin
35	chr2:96917200-96921800	Strong transcription	Fetal Brain Female	brain
36	chr2:96917200-96924200	Strong transcription	Sigmoid Colon	Sigmoid Colon
37	chr2:96917400-96919400	Transcr. at gene 5' and 3'	Skeletal Muscle Female	skeletal muscle
38	chr2:96917400-96920800	Strong transcription	Placenta Amnion	Placenta Amnion
39	chr2:96917400-96921000	Strong transcription	Primary T helper cells PMA-I stimulated	--
40	chr2:96917400-96921600	Strong transcription	GM12878-XiMat	blood
41	chr2:96917400-96929600	Strong transcription	Brain Germinal Matrix	brain
42	chr2:96917600-96918400	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr2:96917600-96918400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr2:96917600-96918400	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr2:96917600-96918400	Genic enhancers	Brain Inferior Temporal Lobe	brain
46	chr2:96917600-96918400	Genic enhancers	Fetal Lung	lung
47	chr2:96917600-96918400	Genic enhancers	Right Atrium	heart
48	chr2:96917600-96918400	Genic enhancers	A549	lung
49	chr2:96917600-96918400	Genic enhancers	Osteobl	bone
50	chr2:96917600-96918600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links