Variant report

Variant	rs10912849
Chromosome Location	chr1:174885927-174885928
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs1002125	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10158096	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs10489333	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10494493	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs10912850	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10912870	0.89[CHB][hapmap];0.93[CHD][hapmap];0.89[JPT][hapmap]
rs12058943	0.91[YRI][hapmap]
rs12063802	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12065854	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.83[JPT][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12066247	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12067259	0.95[LWK][hapmap];0.91[YRI][hapmap]
rs12068637	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12069057	0.95[LWK][hapmap];0.91[YRI][hapmap]
rs12074821	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12084218	0.85[AFR][1000 genomes]
rs12087196	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12087589	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12090265	0.82[AFR][1000 genomes]
rs12562194	0.81[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs12565944	0.81[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs12566477	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16847402	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.96[TSI][hapmap];0.82[ASN][1000 genomes]
rs16847450	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.96[TSI][hapmap];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16847563	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.91[MKK][hapmap];0.96[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16847576	0.85[LWK][hapmap]
rs16847633	1.00[ASW][hapmap];0.92[CEU][hapmap];0.84[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];0.85[TSI][hapmap];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs16847706	1.00[ASW][hapmap];0.83[CEU][hapmap];0.89[CHB][hapmap];0.90[CHD][hapmap];0.89[JPT][hapmap];1.00[LWK][hapmap];0.92[TSI][hapmap];0.91[YRI][hapmap];0.81[AFR][1000 genomes]
rs2285209	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs28660133	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs41266068	0.81[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs41266072	0.80[EUR][1000 genomes]
rs57366106	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61828064	0.80[ASN][1000 genomes]
rs61828065	0.80[ASN][1000 genomes]
rs61828068	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs61828081	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs61828087	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61828088	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61828117	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61828121	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61828143	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61828144	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61828148	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs61828149	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs61828151	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs61828152	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs61828156	0.80[EUR][1000 genomes]
rs61828157	0.80[EUR][1000 genomes]
rs7523516	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.96[TSI][hapmap];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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10912849	SERPINC1	cis	multi-tissue	Pritchard
rs10912849	SERPINC1	cis	Muscle Skeletal	GTEx

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:174861400-174902400	Weak transcription	Left Ventricle	heart
2	chr1:174872000-174886000	Weak transcription	Gastric	stomach
3	chr1:174872000-174889200	Weak transcription	Primary B cells from cord blood	blood
4	chr1:174872400-174888800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr1:174872800-174900400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:174873400-174897200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr1:174874000-174910000	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr1:174874200-174938200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr1:174876800-174933600	Weak transcription	Aorta	Aorta
10	chr1:174883600-174889200	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr1:174883600-174900600	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr1:174883800-174889600	Weak transcription	Fetal Lung	lung
13	chr1:174885000-174888000	Strong transcription	HUES48 Cell Line	embryonic stem cell
14	chr1:174885400-174886000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr1:174885400-174886400	Enhancers	Primary T killer memory cells from peripheral blood	blood
16	chr1:174885400-174886400	Enhancers	Stomach Mucosa	stomach
17	chr1:174885400-174886400	Enhancers	K562	blood
18	chr1:174885400-174886400	Enhancers	Monocytes-CD14+_RO01746	blood
19	chr1:174885400-174886600	Strong transcription	H1 Cell Line	embryonic stem cell
20	chr1:174885400-174886600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
21	chr1:174885400-174886600	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr1:174885400-174886800	Strong transcription	HUES64 Cell Line	embryonic stem cell
23	chr1:174885400-174892600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
24	chr1:174885600-174886000	Enhancers	Primary T cells from cord blood	blood
25	chr1:174885600-174886200	Strong transcription	HUES6 Cell Line	embryonic stem cell
26	chr1:174885600-174886200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr1:174885600-174886200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
28	chr1:174885600-174886400	Enhancers	Fetal Intestine Small	intestine
29	chr1:174885600-174886600	Enhancers	Primary B cells from peripheral blood	blood
30	chr1:174885800-174886000	Enhancers	Primary T cells fromperipheralblood	blood
31	chr1:174885800-174886000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
32	chr1:174885800-174886000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
33	chr1:174885800-174886000	Enhancers	Duodenum Mucosa	Duodenum
34	chr1:174885800-174886200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
35	chr1:174885800-174886200	Enhancers	Small Intestine	intestine
36	chr1:174885800-174886200	Flanking Active TSS	GM12878-XiMat	blood
37	chr1:174885800-174886400	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
38	chr1:174885800-174886400	Enhancers	Fetal Intestine Large	intestine
39	chr1:174885800-174886400	Enhancers	Pancreas	Pancrea
40	chr1:174885800-174886400	Enhancers	Sigmoid Colon	Sigmoid Colon
41	chr1:174885800-174886400	Enhancers	Spleen	Spleen

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