Variant report

Variant	rs3791343
Chromosome Location	chr2:172843959-172843960
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:172842580..172844275-chr2:172846200..172848485,2	K562	blood:
2	chr2:172841973..172843982-chr2:172863647..172866233,2	MCF-7	breast:
3	chr2:172837079..172839859-chr2:172842621..172845693,4	K562	blood:
4	chr2:172837171..172840943-chr2:172841139..172845693,4	K562	blood:
5	chr2:172842580..172845060-chr2:172845399..172847700,2	K562	blood:
6	chr2:172842087..172844341-chr2:172857534..172860058,2	K562	blood:

Variant related genes	Relation type
ENSG00000115840	Chromatin interaction
ENSG00000172878	Chromatin interaction

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10166352	0.80[ASN][1000 genomes]
rs10177679	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10179020	0.88[EUR][1000 genomes]
rs10188587	0.80[ASN][1000 genomes]
rs10196521	0.89[EUR][1000 genomes]
rs10432474	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10439296	0.80[ASN][1000 genomes]
rs10930497	1.00[AFR][1000 genomes]
rs10930498	0.80[ASN][1000 genomes]
rs10930500	0.80[ASN][1000 genomes]
rs10930501	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1105264	0.89[EUR][1000 genomes]
rs11676484	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11677573	0.96[ASN][1000 genomes]
rs11683436	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11692418	0.80[ASN][1000 genomes]
rs11695887	0.80[ASN][1000 genomes]
rs11903123	0.89[EUR][1000 genomes]
rs11903410	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12467010	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12468218	0.80[ASN][1000 genomes]
rs12473516	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12478215	0.80[ASN][1000 genomes]
rs12479374	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13399316	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1400816	0.89[EUR][1000 genomes]
rs1443699	0.94[ASN][1000 genomes]
rs1443700	0.84[ASN][1000 genomes]
rs1878583	0.89[EUR][1000 genomes]
rs1982288	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1996425	0.89[EUR][1000 genomes]
rs2028670	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2028671	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2028672	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2357207	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2357208	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28372952	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3770443	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3770444	0.89[EUR][1000 genomes]
rs3770457	0.89[EUR][1000 genomes]
rs3821092	0.88[EUR][1000 genomes]
rs3821094	0.88[EUR][1000 genomes]
rs3821096	0.89[EUR][1000 genomes]
rs4072279	0.80[ASN][1000 genomes]
rs4668417	0.89[EUR][1000 genomes]
rs59853867	0.80[ASN][1000 genomes]
rs60706248	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62182438	0.82[ASN][1000 genomes]
rs6433313	0.89[EUR][1000 genomes]
rs6433315	0.89[EUR][1000 genomes]
rs6433316	0.86[EUR][1000 genomes]
rs6433318	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6433322	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6707142	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6714214	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6726050	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6733123	0.94[ASN][1000 genomes]
rs6740705	0.80[ASN][1000 genomes]
rs6742905	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6753551	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6753859	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6758494	0.80[ASN][1000 genomes]
rs718936	1.00[AFR][1000 genomes]
rs7340516	0.80[ASN][1000 genomes]
rs7371503	0.94[ASN][1000 genomes]
rs7371631	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7579509	0.80[ASN][1000 genomes]
rs7580132	0.80[ASN][1000 genomes]
rs7597525	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7598232	0.90[ASN][1000 genomes]
rs949548	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875410	chr2:172693780-172896587	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv875411	chr2:172693780-172942448	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	esv2830399	chr2:172781830-172952526	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172780400-172848800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr2:172780600-172847400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr2:172780600-172854200	Weak transcription	Small Intestine	intestine
4	chr2:172783600-172851000	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr2:172796000-172855200	Weak transcription	Gastric	stomach
6	chr2:172807400-172845400	Weak transcription	Spleen	Spleen
7	chr2:172808000-172847200	Weak transcription	Fetal Brain Female	brain
8	chr2:172808000-172849400	Weak transcription	Rectal Smooth Muscle	rectum
9	chr2:172810000-172862600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr2:172811400-172846200	Weak transcription	Brain Substantia Nigra	brain
11	chr2:172811800-172852200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr2:172811800-172855600	Weak transcription	Fetal Heart	heart
13	chr2:172812400-172845200	Weak transcription	Colonic Mucosa	Colon
14	chr2:172813000-172859200	Weak transcription	Fetal Brain Male	brain
15	chr2:172814000-172844400	Weak transcription	Pancreas	Pancrea
16	chr2:172815400-172850000	Weak transcription	HSMMtube	muscle
17	chr2:172816800-172844200	Weak transcription	NHLF	lung
18	chr2:172817800-172845200	Weak transcription	Psoas Muscle	Psoas
19	chr2:172821000-172862800	Weak transcription	Brain Angular Gyrus	brain
20	chr2:172823000-172850400	Weak transcription	Right Ventricle	heart
21	chr2:172823800-172844000	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr2:172823800-172851200	Weak transcription	Fetal Kidney	kidney
23	chr2:172824000-172857800	Weak transcription	Brain Anterior Caudate	brain
24	chr2:172824000-172857800	Weak transcription	Brain Hippocampus Middle	brain
25	chr2:172824200-172850000	Weak transcription	NHDF-Ad	bronchial
26	chr2:172824200-172850400	Weak transcription	HMEC	breast
27	chr2:172824400-172847200	Weak transcription	NH-A	brain
28	chr2:172825800-172846400	Weak transcription	Colon Smooth Muscle	Colon
29	chr2:172826400-172848400	Weak transcription	Hela-S3	cervix
30	chr2:172829200-172847000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr2:172829800-172848000	Weak transcription	HUVEC	blood vessel
32	chr2:172835800-172850200	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr2:172836200-172851000	Strong transcription	Dnd41	blood
34	chr2:172836400-172844400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr2:172836400-172849200	Strong transcription	Monocytes-CD14+_RO01746	blood
36	chr2:172836400-172851000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr2:172837400-172845600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr2:172838000-172845600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr2:172838000-172846000	Weak transcription	Esophagus	oesophagus
40	chr2:172838800-172844000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr2:172838800-172849200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr2:172839000-172846200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr2:172839200-172849000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
44	chr2:172839200-172849800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr2:172839800-172844200	Strong transcription	Skeletal Muscle Female	skeletal muscle
46	chr2:172839800-172848200	Strong transcription	Fetal Muscle Trunk	muscle
47	chr2:172840000-172845400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr2:172840000-172845600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr2:172840000-172847600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr2:172840000-172848000	Strong transcription	Primary T cells fromperipheralblood	blood

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