Variant report

Variant	rs17604177
Chromosome Location	chr2:11958193-11958194
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2716611	0.84[EUR][1000 genomes]
rs2716638	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73191082	0.81[EUR][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:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11916800-11961200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr2:11919400-11961800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr2:11919600-11968400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr2:11919800-11959200	Strong transcription	Liver	Liver
5	chr2:11919800-11960400	Weak transcription	Stomach Mucosa	stomach
6	chr2:11919800-11963200	Strong transcription	Primary B cells from peripheral blood	blood
7	chr2:11919800-11967600	Strong transcription	Primary T helper cells fromperipheralblood	blood
8	chr2:11919800-11968400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
9	chr2:11919800-11968800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr2:11925200-11964800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
11	chr2:11925200-11968600	Strong transcription	NHLF	lung
12	chr2:11925800-11968600	Strong transcription	Primary T cells fromperipheralblood	blood
13	chr2:11932400-11959600	Weak transcription	Fetal Kidney	kidney
14	chr2:11937000-11968800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr2:11941200-11968600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr2:11942000-11958200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr2:11942800-11960400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr2:11943000-11962800	Strong transcription	NHEK	skin
19	chr2:11944800-11965400	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr2:11946200-11969200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr2:11946600-11961800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr2:11948000-11961800	Weak transcription	GM12878-XiMat	blood
23	chr2:11948400-11960200	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr2:11948600-11958800	Weak transcription	HSMM	muscle
25	chr2:11949600-11958200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr2:11949600-11958400	Strong transcription	Ovary	ovary
27	chr2:11949800-11958400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr2:11950200-11967200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr2:11950200-11968400	Strong transcription	Primary hematopoietic stem cells	blood
30	chr2:11951600-11958400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr2:11951600-11962800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr2:11951600-11968600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr2:11951800-11964400	Weak transcription	Fetal Heart	heart
34	chr2:11952400-11958200	Strong transcription	Fetal Intestine Small	intestine
35	chr2:11954200-11958600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr2:11954600-11958400	Strong transcription	K562	blood
37	chr2:11954800-11958200	Strong transcription	Gastric	stomach
38	chr2:11954800-11958200	Strong transcription	Sigmoid Colon	Sigmoid Colon
39	chr2:11954800-11958400	Strong transcription	Fetal Muscle Trunk	muscle
40	chr2:11955000-11958400	Strong transcription	Primary B cells from cord blood	blood
41	chr2:11955000-11958400	Strong transcription	Fetal Thymus	thymus
42	chr2:11955000-11958600	Strong transcription	Fetal Muscle Leg	muscle
43	chr2:11955000-11961400	Strong transcription	NHDF-Ad	bronchial
44	chr2:11955200-11958200	Strong transcription	Primary T helper naive cells from peripheral blood	blood
45	chr2:11955200-11958200	Strong transcription	Muscle Satellite Cultured Cells	--
46	chr2:11955400-11962200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr2:11955400-11965000	Strong transcription	HMEC	breast
48	chr2:11955600-11958400	Strong transcription	HUES64 Cell Line	embryonic stem cell
49	chr2:11956000-11959200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr2:11956000-11961200	Weak transcription	Spleen	Spleen

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