Variant report

Variant	rs12066247
Chromosome Location	chr1:174865004-174865005
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs1002125	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10158096	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10489333	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10494493	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10912849	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10912850	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12063802	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12065854	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12068637	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12074821	0.83[EUR][1000 genomes]
rs12087196	0.80[EUR][1000 genomes]
rs12087589	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12566477	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16847402	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16847450	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16847563	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16847633	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2285209	0.80[EUR][1000 genomes]
rs28660133	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34952844	0.81[EUR][1000 genomes]
rs41524947	0.81[EUR][1000 genomes]
rs57366106	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61826953	0.81[EUR][1000 genomes]
rs61828064	0.80[ASN][1000 genomes]
rs61828065	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs61828068	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs61828081	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs61828087	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61828088	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61828117	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61828121	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61828143	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61828144	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61828148	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs61828149	0.81[EUR][1000 genomes]
rs61828151	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs61828152	0.80[EUR][1000 genomes]
rs7523516	0.82[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2755184	chr1:174388343-174970343	Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12066247	SERPINC1	cis	Muscle Skeletal	GTEx

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:174844800-174871600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:174844800-174874400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr1:174844800-174877400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:174846800-174874000	Weak transcription	Ovary	ovary
5	chr1:174847000-174869200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr1:174847600-174874400	Weak transcription	Esophagus	oesophagus
7	chr1:174850200-174874800	Weak transcription	Fetal Stomach	stomach
8	chr1:174850400-174869600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr1:174852000-174873400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr1:174852800-174874800	Weak transcription	Spleen	Spleen
11	chr1:174853400-174870200	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr1:174856600-174866600	Weak transcription	Primary B cells from cord blood	blood
13	chr1:174856800-174876400	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr1:174857000-174870800	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr1:174857000-174871200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr1:174857800-174867200	Weak transcription	Primary B cells from peripheral blood	blood
17	chr1:174858000-174871200	Weak transcription	Lung	lung
18	chr1:174859000-174868600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr1:174859000-174874000	Weak transcription	Brain Angular Gyrus	brain
20	chr1:174859400-174866600	Weak transcription	Gastric	stomach
21	chr1:174859600-174867200	Weak transcription	HepG2	liver
22	chr1:174859600-174873400	Weak transcription	K562	blood
23	chr1:174860200-174868200	Weak transcription	Fetal Heart	heart
24	chr1:174861400-174866600	Weak transcription	Pancreas	Pancrea
25	chr1:174861400-174871200	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr1:174861400-174876200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr1:174861400-174902400	Weak transcription	Left Ventricle	heart
28	chr1:174862800-174882400	Weak transcription	Fetal Lung	lung
29	chr1:174863200-174883200	Weak transcription	Small Intestine	intestine
30	chr1:174863400-174881400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr1:174863600-174866600	Weak transcription	GM12878-XiMat	blood
32	chr1:174863600-174868400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr1:174863600-174873800	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr1:174863600-174874200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr1:174863800-174869600	Weak transcription	Primary T cells from cord blood	blood
36	chr1:174863800-174876000	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr1:174863800-174883000	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr1:174864000-174866600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr1:174864200-174866600	Weak transcription	Liver	Liver
40	chr1:174864200-174866600	Weak transcription	Duodenum Mucosa	Duodenum
41	chr1:174864200-174866600	Weak transcription	Fetal Intestine Small	intestine
42	chr1:174864200-174866600	Weak transcription	Stomach Mucosa	stomach
43	chr1:174864200-174882000	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr1:174864400-174866400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr1:174864400-174866600	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr1:174864400-174866600	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr1:174864400-174866600	Weak transcription	Fetal Intestine Large	intestine
48	chr1:174864600-174866400	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr1:174864600-174866600	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr1:174864600-174874000	Weak transcription	Aorta	Aorta

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