Variant report

Variant	rs34503448
Chromosome Location	chr2:98587288-98587289
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:98582131..98586071-chr2:98586872..98589219,3	K562	blood:
2	chr2:98586492..98590623-chr2:98609849..98613256,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000075568	Chromatin interaction

Extended variants
information (count: 64 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10432626	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11678591	0.87[EUR][1000 genomes]
rs11679828	0.85[EUR][1000 genomes]
rs11680018	0.84[EUR][1000 genomes]
rs11680883	0.85[EUR][1000 genomes]
rs11681535	0.84[EUR][1000 genomes]
rs11688829	0.86[EUR][1000 genomes]
rs11690687	0.84[EUR][1000 genomes]
rs11690737	0.84[EUR][1000 genomes]
rs11692470	0.85[EUR][1000 genomes]
rs12052222	0.83[EUR][1000 genomes]
rs12052836	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12052846	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12104810	0.83[EUR][1000 genomes]
rs12988571	0.80[EUR][1000 genomes]
rs13008968	0.82[EUR][1000 genomes]
rs13023980	0.83[EUR][1000 genomes]
rs13028954	0.87[EUR][1000 genomes]
rs13032883	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13034929	0.80[EUR][1000 genomes]
rs1470483	0.80[EUR][1000 genomes]
rs1578957	0.86[AFR][1000 genomes]
rs17489984	0.80[EUR][1000 genomes]
rs17490429	0.83[EUR][1000 genomes]
rs1838797	0.83[EUR][1000 genomes]
rs1875699	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2044459	0.83[EUR][1000 genomes]
rs2084176	0.83[EUR][1000 genomes]
rs2278700	0.81[EUR][1000 genomes]
rs3198055	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34373359	0.83[EUR][1000 genomes]
rs34528940	0.82[EUR][1000 genomes]
rs34654057	0.80[EUR][1000 genomes]
rs34974566	0.87[EUR][1000 genomes]
rs35098301	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs35218942	0.86[EUR][1000 genomes]
rs35255677	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35505530	0.85[EUR][1000 genomes]
rs35564270	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35783535	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs55776387	0.80[EUR][1000 genomes]
rs55886305	0.85[EUR][1000 genomes]
rs58546246	0.85[EUR][1000 genomes]
rs62156511	0.86[EUR][1000 genomes]
rs6738389	0.80[EUR][1000 genomes]
rs6746768	0.84[EUR][1000 genomes]
rs6748124	0.85[EUR][1000 genomes]
rs6757357	0.85[EUR][1000 genomes]
rs7421146	0.87[EUR][1000 genomes]
rs7564773	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7583868	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7601898	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs953320	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526360	chr2:98403683-98814054	Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv521568	chr2:98403683-98826203	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1004220	chr2:98423421-98816010	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1007259	chr2:98429744-98818080	Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv535832	chr2:98429744-98818080	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv1009218	chr2:98442640-98816010	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv1003925	chr2:98442640-98821102	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv999442	chr2:98448732-98816010	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv1013902	chr2:98454309-98818080	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv1013416	chr2:98472701-98688729	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	nsv518056	chr2:98586842-99156296	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs34503448	ACTR1B	cis	Esophagus Muscularis	GTEx
rs34503448	ACTR1B	cis	Artery Tibial	GTEx

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:98563600-98589200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr2:98568200-98599200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr2:98568400-98592000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr2:98575000-98589000	Weak transcription	Fetal Muscle Leg	muscle
5	chr2:98575200-98592600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr2:98575400-98595000	Weak transcription	HSMM	muscle
7	chr2:98575800-98587600	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr2:98580000-98589800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr2:98581000-98589600	Weak transcription	Primary hematopoietic stem cells	blood
10	chr2:98582200-98587400	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr2:98582400-98588400	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr2:98582600-98588600	Enhancers	Primary B cells from peripheral blood	blood
13	chr2:98582800-98588000	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr2:98583000-98587400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr2:98583000-98588000	Enhancers	Liver	Liver
16	chr2:98583000-98588800	Enhancers	HepG2	liver
17	chr2:98583200-98587400	Enhancers	Colon Smooth Muscle	Colon
18	chr2:98583200-98587400	Enhancers	Small Intestine	intestine
19	chr2:98583200-98587800	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr2:98583200-98588400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr2:98583200-98589400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr2:98583600-98595800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr2:98583800-98589200	Weak transcription	Hela-S3	cervix
24	chr2:98584200-98587400	Enhancers	Ovary	ovary
25	chr2:98584200-98588400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr2:98584400-98587400	Enhancers	Duodenum Mucosa	Duodenum
27	chr2:98584400-98587400	Enhancers	Sigmoid Colon	Sigmoid Colon
28	chr2:98584400-98587800	Enhancers	Fetal Intestine Large	intestine
29	chr2:98584600-98590000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr2:98584600-98597000	Weak transcription	Thymus	Thymus
31	chr2:98584800-98587400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
32	chr2:98585000-98608400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr2:98585200-98587800	Weak transcription	Fetal Kidney	kidney
34	chr2:98585200-98589800	Weak transcription	Primary B cells from cord blood	blood
35	chr2:98585400-98588200	Enhancers	Stomach Mucosa	stomach
36	chr2:98585400-98591200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr2:98585600-98587400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr2:98585600-98588200	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr2:98585600-98594800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr2:98585800-98587400	Enhancers	Primary T killer memory cells from peripheral blood	blood
41	chr2:98586000-98587400	Enhancers	Duodenum Smooth Muscle	Duodenum
42	chr2:98586200-98587400	Enhancers	Fetal Heart	heart
43	chr2:98586200-98587400	Enhancers	Stomach Smooth Muscle	stomach
44	chr2:98586200-98587800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
45	chr2:98586200-98588000	Enhancers	Skeletal Muscle Male	skeletal muscle
46	chr2:98586400-98587400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
47	chr2:98586400-98587400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr2:98586400-98587400	Enhancers	Psoas Muscle	Psoas
49	chr2:98586400-98587400	Enhancers	Spleen	Spleen
50	chr2:98586400-98587800	Enhancers	Gastric	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links