Variant report

Variant	rs10849791
Chromosome Location	chr12:121235280-121235281
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:121223533..121225993-chr12:121234568..121236764,2	K562	blood:
2	chr12:121233943..121235846-chr12:121237594..121239607,2	K562	blood:
3	chr12:121226286..121228196-chr12:121235174..121237034,2	K562	blood:
4	chr12:121230474..121232207-chr12:121234744..121236452,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs10774572	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs10849807	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11065264	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11065282	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11065283	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11065284	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11065292	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11065293	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11065300	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes]
rs11065311	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11065324	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1151849	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1151862	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11608262	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11611087	0.92[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1177585	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12579868	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12580949	0.96[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.80[AMR][1000 genomes]
rs12809299	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12822123	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes]
rs12824150	0.86[CEU][hapmap]
rs12825746	0.83[ASN][1000 genomes]
rs12831094	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs13746	0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1467283	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1542859	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap]
rs1696357	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap]
rs2015462	0.84[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2047568	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2062507	0.85[CEU][hapmap]
rs2393717	0.96[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2893876	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3213566	0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs3213567	0.84[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs3213570	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3213572	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34076777	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35706672	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3809313	0.84[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap]
rs3842985	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3861797	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3883901	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3897746	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3901854	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4454799	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[EUR][1000 genomes]
rs471688	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs4766979	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4766980	0.81[AMR][1000 genomes]
rs4767935	0.85[CEU][hapmap]
rs4767937	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs494632	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs508595	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs520753	0.92[CHB][hapmap]
rs525425	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs531782	0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs534415	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs572016	0.82[ASN][1000 genomes]
rs577961	0.82[ASN][1000 genomes]
rs580240	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58291418	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs590625	0.82[ASN][1000 genomes]
rs608394	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs610694	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs618482	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs624216	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs625228	0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs661647	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs668622	0.95[ASN][1000 genomes]
rs7137504	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7305849	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs869781	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs909053	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9431	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs989986	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs989987	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv1037070	chr12:121069938-121459047	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv560438	chr12:121194565-121352206	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	esv1801139	chr12:121228410-121241933	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv1045178	chr12:121231461-121271734	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10849791	ACADS	cis	Thyroid	GTEx
rs10849791	UNQ1887	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121206200-121238600	Weak transcription	Small Intestine	intestine
2	chr12:121209400-121236800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr12:121211400-121260800	Weak transcription	Gastric	stomach
4	chr12:121212600-121236600	Weak transcription	Fetal Heart	heart
5	chr12:121221000-121250000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr12:121221200-121249400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr12:121221400-121235800	Weak transcription	Hela-S3	cervix
8	chr12:121221400-121240800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr12:121221600-121238800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr12:121222200-121237200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr12:121222200-121274000	Weak transcription	Lung	lung
12	chr12:121222400-121238800	Weak transcription	Placenta	Placenta
13	chr12:121222400-121240400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr12:121222600-121237200	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr12:121222600-121249200	Weak transcription	Rectal Smooth Muscle	rectum
16	chr12:121222600-121259000	Weak transcription	Ovary	ovary
17	chr12:121222600-121260800	Weak transcription	Spleen	Spleen
18	chr12:121222600-121268600	Weak transcription	Esophagus	oesophagus
19	chr12:121222600-121268600	Weak transcription	Stomach Smooth Muscle	stomach
20	chr12:121222800-121237200	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr12:121222800-121237400	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr12:121222800-121240600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr12:121222800-121245600	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr12:121222800-121249400	Weak transcription	HSMM	muscle
25	chr12:121226200-121237200	Weak transcription	Psoas Muscle	Psoas
26	chr12:121228600-121235600	Weak transcription	Thymus	Thymus
27	chr12:121228600-121239400	Weak transcription	Liver	Liver
28	chr12:121229000-121245200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr12:121230000-121239000	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr12:121230000-121255200	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr12:121230600-121236000	Weak transcription	Brain Cingulate Gyrus	brain
32	chr12:121231200-121238000	Weak transcription	Left Ventricle	heart
33	chr12:121231600-121237400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr12:121233000-121236200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr12:121233600-121235400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr12:121233600-121237000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr12:121234000-121236200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr12:121234000-121236600	Weak transcription	NHEK	skin
39	chr12:121234000-121237000	Weak transcription	Duodenum Mucosa	Duodenum
40	chr12:121234000-121240200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr12:121234000-121240600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr12:121234000-121240800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr12:121234000-121264200	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr12:121234200-121235800	Weak transcription	Primary B cells from peripheral blood	blood
45	chr12:121234200-121246000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr12:121234200-121246000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr12:121234200-121246600	Weak transcription	Fetal Stomach	stomach
48	chr12:121234200-121246800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr12:121234400-121235800	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr12:121234600-121236800	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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