Variant report

Variant	rs340337
Chromosome Location	chr2:179913104-179913105
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10930851	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11688881	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12053571	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12991291	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17885265	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2007326	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2592566	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2655148	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs340323	1.00[ASN][1000 genomes]
rs340325	0.93[ASN][1000 genomes]
rs340331	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs340333	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs340340	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55720955	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7581299	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949133	chr2:179711376-180124327	Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv875457	chr2:179775893-179966804	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv875458	chr2:179780624-179966804	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv875464	chr2:179843612-179939493	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv875465	chr2:179843612-179966804	Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv508184	chr2:179896384-179965419	Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs340337	SESTD1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179897400-179913400	Weak transcription	Fetal Thymus	thymus
2	chr2:179897400-179913800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr2:179897600-179913800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr2:179907400-179913200	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr2:179908800-179913400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:179909400-179913800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr2:179909400-179914000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr2:179909400-179914000	Weak transcription	Pancreas	Pancrea
9	chr2:179909400-179916000	Weak transcription	Spleen	Spleen
10	chr2:179909600-179913400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr2:179909600-179916000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr2:179910400-179913400	Enhancers	Primary B cells from peripheral blood	blood
13	chr2:179910800-179915800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr2:179911000-179913400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr2:179911200-179913200	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr2:179911200-179914400	Weak transcription	Dnd41	blood
17	chr2:179911400-179913200	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr2:179911400-179913400	Weak transcription	Psoas Muscle	Psoas
19	chr2:179911400-179913400	Weak transcription	HSMM	muscle
20	chr2:179911400-179914400	Weak transcription	Aorta	Aorta
21	chr2:179911600-179914800	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr2:179912000-179913200	Enhancers	Primary hematopoietic stem cells	blood
23	chr2:179912000-179913200	Enhancers	Primary T helper cells fromperipheralblood	blood
24	chr2:179912000-179913200	Enhancers	Fetal Intestine Large	intestine
25	chr2:179912000-179915200	Active TSS	Right Atrium	heart
26	chr2:179912400-179913200	Enhancers	Primary T cells from cord blood	blood
27	chr2:179912400-179913400	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr2:179912400-179913400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
29	chr2:179912400-179913600	Enhancers	Pancreatic Islets	Pancreatic Islet
30	chr2:179912400-179914000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
31	chr2:179912400-179915400	Active TSS	Fetal Heart	heart
32	chr2:179912600-179913200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
33	chr2:179912600-179914000	Active TSS	Fetal Muscle Leg	muscle
34	chr2:179912600-179914600	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr2:179912600-179915000	Active TSS	Rectal Mucosa Donor 29	rectum
36	chr2:179912600-179915200	Active TSS	Right Ventricle	heart
37	chr2:179912600-179915600	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr2:179912600-179915600	Active TSS	HSMMtube	muscle
39	chr2:179912600-179916200	Enhancers	Fetal Kidney	kidney
40	chr2:179912800-179913400	Weak transcription	Adipose Nuclei	Adipose
41	chr2:179912800-179913600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
42	chr2:179912800-179914000	Enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr2:179912800-179914800	Active TSS	Left Ventricle	heart
44	chr2:179912800-179915000	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr2:179912800-179915200	Flanking Active TSS	Primary B cells from cord blood	blood
46	chr2:179912800-179916000	Active TSS	Fetal Muscle Trunk	muscle
47	chr2:179913000-179913200	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr2:179913000-179913200	Enhancers	Primary T helper naive cells from peripheral blood	blood
49	chr2:179913000-179913200	Enhancers	Stomach Mucosa	stomach
50	chr2:179913000-179913400	Enhancers	Thymus	Thymus

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