Variant report

Variant	rs34149969
Chromosome Location	chr2:98342323-98342324
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:98207043..98207962-chr2:98341661..98342410,2	MCF-7	breast:

Extended variants
information (count: 71 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs11678558	0.81[EUR][1000 genomes]
rs11678591	0.81[EUR][1000 genomes]
rs11679828	0.83[EUR][1000 genomes]
rs11680018	0.82[EUR][1000 genomes]
rs11680321	0.92[EUR][1000 genomes]
rs11680883	0.83[EUR][1000 genomes]
rs11681535	0.82[EUR][1000 genomes]
rs11684749	0.88[EUR][1000 genomes]
rs11686881	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11687510	0.80[EUR][1000 genomes]
rs11688829	0.82[EUR][1000 genomes]
rs11690687	0.84[EUR][1000 genomes]
rs11690737	0.84[EUR][1000 genomes]
rs11691494	0.88[EUR][1000 genomes]
rs11692010	0.90[EUR][1000 genomes]
rs11692470	0.83[EUR][1000 genomes]
rs11692671	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12052222	0.85[EUR][1000 genomes]
rs12104810	0.85[EUR][1000 genomes]
rs12988571	0.88[EUR][1000 genomes]
rs12995673	0.88[EUR][1000 genomes]
rs13004090	0.85[EUR][1000 genomes]
rs13006932	0.90[EUR][1000 genomes]
rs13008968	0.84[EUR][1000 genomes]
rs13020776	0.88[EUR][1000 genomes]
rs13023980	0.81[EUR][1000 genomes]
rs13028954	0.81[EUR][1000 genomes]
rs13032265	0.88[EUR][1000 genomes]
rs13033383	0.85[EUR][1000 genomes]
rs13034929	0.88[EUR][1000 genomes]
rs1470483	0.90[EUR][1000 genomes]
rs17488834	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17488897	0.93[EUR][1000 genomes]
rs17489454	0.88[EUR][1000 genomes]
rs17489915	0.88[EUR][1000 genomes]
rs17489984	0.88[EUR][1000 genomes]
rs17490429	0.85[EUR][1000 genomes]
rs1838797	0.85[EUR][1000 genomes]
rs2044458	0.92[EUR][1000 genomes]
rs2044459	0.85[EUR][1000 genomes]
rs2084176	0.85[EUR][1000 genomes]
rs2278700	0.87[EUR][1000 genomes]
rs2305143	0.88[EUR][1000 genomes]
rs2871183	0.88[EUR][1000 genomes]
rs3192177	0.82[EUR][1000 genomes]
rs34373359	0.85[EUR][1000 genomes]
rs34502870	0.88[EUR][1000 genomes]
rs34528940	0.84[EUR][1000 genomes]
rs34654057	0.93[EUR][1000 genomes]
rs34974566	0.81[EUR][1000 genomes]
rs35218942	0.82[EUR][1000 genomes]
rs35424768	0.90[EUR][1000 genomes]
rs35505530	0.83[EUR][1000 genomes]
rs4311104	0.88[EUR][1000 genomes]
rs4851462	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55776387	0.88[EUR][1000 genomes]
rs55886305	0.83[EUR][1000 genomes]
rs58546246	0.83[EUR][1000 genomes]
rs62156511	0.80[EUR][1000 genomes]
rs6711101	0.92[EUR][1000 genomes]
rs6738389	0.93[EUR][1000 genomes]
rs6746768	0.84[EUR][1000 genomes]
rs6748124	0.83[EUR][1000 genomes]
rs6757357	0.83[EUR][1000 genomes]
rs71412824	0.88[EUR][1000 genomes]
rs717417	0.88[EUR][1000 genomes]
rs7421146	0.81[EUR][1000 genomes]
rs895438	0.90[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	nsv531382	chr2:98250628-98457616	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv874696	chr2:98309882-98362907	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv10104	chr2:98340272-98345152	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs34149969	ACTR1B	cis	Artery Tibial	GTEx
rs34149969	ACTR1B	cis	Esophagus Muscularis	GTEx

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:98335000-98344800	Weak transcription	Right Atrium	heart
2	chr2:98336000-98344400	Weak transcription	Duodenum Mucosa	Duodenum
3	chr2:98336000-98346000	Genic enhancers	Primary T helper cells fromperipheralblood	blood
4	chr2:98336200-98345000	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
5	chr2:98336200-98345600	Genic enhancers	Primary T cells fromperipheralblood	blood
6	chr2:98336200-98345800	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
7	chr2:98336200-98351200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr2:98336400-98345000	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr2:98336400-98346000	Genic enhancers	Primary T helper cells PMA-I stimulated	--
10	chr2:98336400-98361400	Weak transcription	Primary B cells from cord blood	blood
11	chr2:98336600-98346200	Weak transcription	Primary hematopoietic stem cells	blood
12	chr2:98336600-98346200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr2:98336600-98358800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr2:98337400-98343800	Strong transcription	Fetal Thymus	thymus
15	chr2:98337400-98346600	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr2:98337800-98343200	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr2:98337800-98357400	Strong transcription	Dnd41	blood
18	chr2:98338800-98358800	Strong transcription	Thymus	Thymus
19	chr2:98339200-98345800	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr2:98339400-98342800	Weak transcription	HSMMtube	muscle
21	chr2:98339600-98357200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr2:98340600-98346600	Weak transcription	Esophagus	oesophagus
23	chr2:98341000-98342400	Strong transcription	Spleen	Spleen
24	chr2:98341000-98343000	Weak transcription	Lung	lung
25	chr2:98341000-98354800	Weak transcription	Gastric	stomach
26	chr2:98341200-98345800	Enhancers	Fetal Muscle Leg	muscle
27	chr2:98341400-98344000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr2:98341600-98342800	Bivalent Enhancer	Placenta	Placenta
29	chr2:98341600-98343000	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr2:98341800-98342400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr2:98341800-98342600	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
32	chr2:98341800-98343800	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr2:98341800-98345800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr2:98341800-98348000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr2:98342000-98343200	Enhancers	Adipose Nuclei	Adipose
36	chr2:98342000-98345600	Enhancers	Fetal Muscle Trunk	muscle
37	chr2:98342000-98345800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr2:98342000-98346400	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
39	chr2:98342000-98347200	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
40	chr2:98342200-98342600	Genic enhancers	Primary T cells from cord blood	blood
41	chr2:98342200-98343000	Weak transcription	Right Ventricle	heart
42	chr2:98342200-98345600	Enhancers	Fetal Stomach	stomach
43	chr2:98342200-98345600	Enhancers	Left Ventricle	heart

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