Variant report

Variant	rs17218006
Chromosome Location	chr2:47658452-47658453
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs12612295	0.82[EUR][1000 genomes]
rs12621761	0.83[AMR][1000 genomes]
rs17217940	1.00[ASN][1000 genomes]
rs17218041	0.82[EUR][1000 genomes]
rs17218244	0.82[EUR][1000 genomes]
rs17218384	0.82[EUR][1000 genomes]
rs17218592	1.00[ASN][1000 genomes]
rs17218599	1.00[ASN][1000 genomes]
rs17224234	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17224276	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17224304	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17224388	1.00[ASN][1000 genomes]
rs28667964	0.82[EUR][1000 genomes]
rs62139712	0.85[AMR][1000 genomes]
rs62139719	1.00[ASN][1000 genomes]
rs72884696	1.00[ASN][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	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
2	nsv1004828	chr2:47056849-47814482	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
3	nsv531348	chr2:47433147-47827310	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer 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	50 gene(s)	inside rSNPs	diseases
4	nsv999576	chr2:47506116-47773960	Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv527823	chr2:47645249-47709704	Genic enhancers Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47631400-47697000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:47631400-47714400	Weak transcription	Right Ventricle	heart
3	chr2:47631800-47659400	Weak transcription	Right Atrium	heart
4	chr2:47631800-47672000	Weak transcription	Pancreas	Pancrea
5	chr2:47631800-47696600	Weak transcription	Esophagus	oesophagus
6	chr2:47631800-47700000	Weak transcription	Colonic Mucosa	Colon
7	chr2:47631800-47704200	Weak transcription	Psoas Muscle	Psoas
8	chr2:47632600-47659600	Strong transcription	Fetal Thymus	thymus
9	chr2:47632800-47659600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr2:47633000-47659600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr2:47633000-47659600	Strong transcription	Fetal Stomach	stomach
12	chr2:47633000-47714000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr2:47634800-47658800	Strong transcription	HUES6 Cell Line	embryonic stem cell
14	chr2:47634800-47659600	Strong transcription	Dnd41	blood
15	chr2:47636800-47659600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr2:47643600-47703400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr2:47644800-47692000	Weak transcription	Fetal Brain Male	brain
18	chr2:47647400-47662800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr2:47648600-47668600	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr2:47649200-47659600	Strong transcription	Thymus	Thymus
21	chr2:47652000-47666400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr2:47654000-47659200	Strong transcription	ES-I3 Cell Line	embryonic stem cell
23	chr2:47655200-47659600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr2:47655600-47659600	Strong transcription	HepG2	liver
25	chr2:47655600-47682800	Weak transcription	Stomach Mucosa	stomach
26	chr2:47656000-47659600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr2:47656400-47659400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr2:47656400-47659600	Strong transcription	Primary T helper cells fromperipheralblood	blood
29	chr2:47656400-47659600	Strong transcription	Fetal Muscle Leg	muscle
30	chr2:47656600-47659400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr2:47656600-47659600	Strong transcription	Primary T cells fromperipheralblood	blood
32	chr2:47656800-47659600	Strong transcription	Cortex derived primary cultured neurospheres	brain
33	chr2:47657000-47658800	Strong transcription	Primary B cells from cord blood	blood
34	chr2:47657000-47658800	Strong transcription	Hela-S3	cervix
35	chr2:47657000-47659200	Strong transcription	Brain Germinal Matrix	brain
36	chr2:47657000-47659600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
37	chr2:47657000-47659600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
38	chr2:47657000-47659600	Strong transcription	Adipose Nuclei	Adipose
39	chr2:47657200-47658600	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr2:47657200-47659400	Strong transcription	Lung	lung
41	chr2:47657200-47660800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr2:47657400-47658800	Strong transcription	NH-A	brain
43	chr2:47657400-47659000	Strong transcription	Ovary	ovary
44	chr2:47657400-47659000	Strong transcription	Sigmoid Colon	Sigmoid Colon
45	chr2:47657400-47659400	Strong transcription	Fetal Lung	lung
46	chr2:47657400-47659600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr2:47657400-47659600	Strong transcription	Brain Cingulate Gyrus	brain
48	chr2:47657400-47659600	Strong transcription	Fetal Intestine Large	intestine
49	chr2:47657400-47659600	Strong transcription	HUVEC	blood vessel
50	chr2:47657600-47658600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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