Variant report

Variant	rs12995673
Chromosome Location	chr2:98409046-98409047
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	chr2:98407471..98409052-chr2:98413591..98415122,2	MCF-7	breast:

Extended variants
information (count: 80 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs10432626	0.81[EUR][1000 genomes]
rs11678558	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11678591	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11679828	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11680018	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11680321	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11680883	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11681535	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11684749	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11686881	0.80[EUR][1000 genomes]
rs11688829	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11690687	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11690737	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11691494	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11692010	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11692470	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11692671	0.83[EUR][1000 genomes]
rs12052222	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12052846	0.81[EUR][1000 genomes]
rs12104810	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12988571	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13004090	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13006932	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13008968	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13020776	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13023980	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13028954	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13032265	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13032883	0.81[EUR][1000 genomes]
rs13034929	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1470483	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17488834	0.80[EUR][1000 genomes]
rs17488897	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17489454	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17489915	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17489984	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17490429	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1838797	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1875699	0.80[EUR][1000 genomes]
rs2044458	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2044459	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2084176	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2278700	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2305143	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2871183	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3192177	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs34149969	0.88[EUR][1000 genomes]
rs34373359	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34502870	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34528940	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34654057	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34974566	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35098301	0.80[EUR][1000 genomes]
rs35218942	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35255677	0.81[EUR][1000 genomes]
rs35424768	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35505530	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35783535	0.81[EUR][1000 genomes]
rs4311104	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4851462	0.83[EUR][1000 genomes]
rs55776387	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs55886305	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs57681139	0.80[EUR][1000 genomes]
rs58546246	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62156511	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6710088	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6711101	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6738389	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6746768	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6748124	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6757357	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs71412824	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs717417	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7421146	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7583868	0.80[EUR][1000 genomes]
rs7601898	0.81[EUR][1000 genomes]
rs895438	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][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	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
3	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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12995673	ACTR1B	cis	Artery Tibial	GTEx
rs12995673	ACTR1B	cis	Esophagus Muscularis	GTEx

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:98368600-98413000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr2:98377400-98410600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:98378600-98421400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr2:98382800-98419800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr2:98383200-98420200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr2:98387800-98438200	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr2:98392200-98409200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr2:98392400-98415600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:98392400-98418600	Weak transcription	Fetal Kidney	kidney
10	chr2:98394200-98415000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr2:98398800-98421000	Weak transcription	Brain Cingulate Gyrus	brain
12	chr2:98399000-98409200	Weak transcription	Small Intestine	intestine
13	chr2:98399600-98429600	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr2:98401400-98422600	Strong transcription	Primary B cells from cord blood	blood
15	chr2:98401600-98422400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr2:98402000-98411600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr2:98402000-98416600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr2:98402000-98423200	Strong transcription	Primary B cells from peripheral blood	blood
19	chr2:98402000-98440400	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr2:98402200-98412000	Strong transcription	Fetal Intestine Large	intestine
21	chr2:98402200-98422200	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr2:98402200-98422600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr2:98402400-98410000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr2:98402400-98410000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr2:98402400-98410000	Strong transcription	Fetal Muscle Trunk	muscle
26	chr2:98402400-98410000	Strong transcription	Stomach Smooth Muscle	stomach
27	chr2:98402400-98410200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr2:98402400-98410200	Strong transcription	Rectal Mucosa Donor 29	rectum
29	chr2:98402400-98410400	Strong transcription	Fetal Muscle Leg	muscle
30	chr2:98402400-98410600	Strong transcription	Duodenum Smooth Muscle	Duodenum
31	chr2:98402400-98411400	Strong transcription	Fetal Stomach	stomach
32	chr2:98402400-98411800	Strong transcription	Primary T cells fromperipheralblood	blood
33	chr2:98402400-98428600	Strong transcription	Primary neutrophils fromperipheralblood	blood
34	chr2:98402600-98410000	Strong transcription	Primary T cells from cord blood	blood
35	chr2:98402600-98411600	Strong transcription	Skeletal Muscle Female	skeletal muscle
36	chr2:98402600-98411800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr2:98402600-98422200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr2:98402600-98422600	Strong transcription	Liver	Liver
39	chr2:98402800-98409800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr2:98402800-98410000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr2:98402800-98410000	Strong transcription	Sigmoid Colon	Sigmoid Colon
42	chr2:98402800-98410000	Strong transcription	Spleen	Spleen
43	chr2:98402800-98410200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr2:98402800-98410400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr2:98403000-98409600	Strong transcription	Fetal Lung	lung
46	chr2:98403000-98411600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr2:98403000-98411600	Strong transcription	Aorta	Aorta
48	chr2:98403200-98422400	Strong transcription	Primary T helper cells fromperipheralblood	blood
49	chr2:98403600-98410200	Strong transcription	Rectal Mucosa Donor 31	rectum
50	chr2:98403600-98422600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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