Variant report

Variant	rs1519812
Chromosome Location	chr8:121045227-121045228
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 59 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10087551	0.93[ASN][1000 genomes]
rs10095205	0.83[EUR][1000 genomes]
rs10095532	0.83[EUR][1000 genomes]
rs10505376	0.85[CHB][hapmap];0.87[CHD][hapmap];0.90[JPT][hapmap]
rs10808506	0.85[CHB][hapmap];0.87[CHD][hapmap];0.90[JPT][hapmap]
rs11780912	0.81[ASN][1000 genomes]
rs11780985	0.85[CHB][hapmap];0.90[JPT][hapmap]
rs11986346	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11996625	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12386849	1.00[ASN][1000 genomes]
rs12542032	1.00[ASN][1000 genomes]
rs12545676	0.85[ASN][1000 genomes]
rs12547479	0.93[ASN][1000 genomes]
rs12548223	1.00[JPT][hapmap]
rs12548273	0.81[ASN][1000 genomes]
rs1401811	1.00[ASN][1000 genomes]
rs1519813	0.81[CEU][hapmap];0.81[CHD][hapmap];0.89[GIH][hapmap]
rs16893478	0.85[CHB][hapmap];0.92[CHD][hapmap];0.90[JPT][hapmap]
rs17226296	0.85[CHB][hapmap];0.83[CHD][hapmap];0.90[JPT][hapmap]
rs17822044	0.82[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap];0.90[ASN][1000 genomes]
rs1973732	0.97[ASN][1000 genomes]
rs1980228	0.92[CEU][hapmap];0.83[EUR][1000 genomes]
rs2326431	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28530768	0.83[EUR][1000 genomes]
rs2875931	0.85[CHB][hapmap];0.83[CHD][hapmap];0.90[JPT][hapmap]
rs4871717	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4871718	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4871720	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4871825	0.88[ASW][hapmap];0.96[CEU][hapmap];0.82[CHB][hapmap];0.92[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.93[MKK][hapmap];0.92[TSI][hapmap];0.86[YRI][hapmap];0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60717250	0.85[ASN][1000 genomes]
rs6469895	0.85[CHB][hapmap];0.87[CHD][hapmap];0.90[JPT][hapmap]
rs66608823	1.00[ASN][1000 genomes]
rs66614869	0.81[ASN][1000 genomes]
rs67282053	0.90[ASN][1000 genomes]
rs67872361	0.80[EUR][1000 genomes]
rs6980708	0.81[CEU][hapmap]
rs7007998	0.85[CHB][hapmap];0.83[CHD][hapmap];0.90[JPT][hapmap]
rs7013298	0.84[CHD][hapmap]
rs72673678	0.88[ASN][1000 genomes]
rs73315941	0.81[ASN][1000 genomes]
rs7813041	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7817522	1.00[ASN][1000 genomes]
rs7821947	0.82[CHB][hapmap]
rs7822662	0.85[CHB][hapmap];0.87[CHD][hapmap];0.90[JPT][hapmap]
rs7829101	0.92[CEU][hapmap];0.81[CHD][hapmap];0.85[GIH][hapmap];0.80[MEX][hapmap];0.83[EUR][1000 genomes]
rs7829116	0.85[CHB][hapmap];0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs7830028	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7833073	0.84[CHD][hapmap]
rs7836087	0.81[CHD][hapmap];0.80[GIH][hapmap]
rs7841621	0.85[CHB][hapmap];0.90[JPT][hapmap]
rs7843503	0.85[CHB][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs955293	0.84[CHD][hapmap]
rs960887	0.88[CEU][hapmap];0.85[CHB][hapmap];0.87[CHD][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs9656934	0.86[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	nsv891418	chr8:120600965-121301474	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv1027974	chr8:120885478-121079658	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv539739	chr8:120885478-121079658	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv891419	chr8:120990455-121047798	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	esv3348294	chr8:121000288-121250984	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs1519812	FER1L6	cis	cerebellum	SCAN
rs1519812	DSCC1	cis	parietal	SCAN
rs1519812	RP11-760H22.2	cis	Adipose Subcutaneous	GTEx
rs1519812	DEPDC6	cis	normal skin	skin_eQTL
rs1519812	DEPDC6	cis	uninvolved skin	skin_eQTL

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121004000-121048000	Weak transcription	Stomach Mucosa	stomach
2	chr8:121005200-121045800	Weak transcription	Psoas Muscle	Psoas
3	chr8:121017000-121067000	Weak transcription	Brain Anterior Caudate	brain
4	chr8:121020000-121046000	Weak transcription	Esophagus	oesophagus
5	chr8:121022200-121048200	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr8:121022400-121065400	Weak transcription	Left Ventricle	heart
7	chr8:121022800-121053000	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr8:121029800-121048400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr8:121032000-121058000	Weak transcription	Pancreas	Pancrea
10	chr8:121033000-121046200	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr8:121036000-121063800	Weak transcription	Primary hematopoietic stem cells	blood
12	chr8:121038400-121061800	Weak transcription	Adipose Nuclei	Adipose
13	chr8:121041800-121046600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr8:121042000-121063400	Weak transcription	Spleen	Spleen
15	chr8:121042400-121046000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr8:121042400-121048000	Weak transcription	Brain Angular Gyrus	brain
17	chr8:121042400-121048000	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr8:121042600-121045600	Weak transcription	Fetal Kidney	kidney
19	chr8:121042600-121048000	Weak transcription	Brain Cingulate Gyrus	brain
20	chr8:121042600-121048000	Weak transcription	Brain Hippocampus Middle	brain
21	chr8:121043000-121046200	Strong transcription	Fetal Intestine Small	intestine
22	chr8:121043800-121046200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr8:121043800-121046200	Strong transcription	Fetal Muscle Trunk	muscle
24	chr8:121043800-121046600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr8:121044000-121045600	Enhancers	Colon Smooth Muscle	Colon
26	chr8:121044000-121046400	Strong transcription	Brain Substantia Nigra	brain
27	chr8:121044000-121048000	Genic enhancers	Fetal Stomach	stomach
28	chr8:121044600-121046000	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr8:121044800-121046200	Strong transcription	Duodenum Mucosa	Duodenum
30	chr8:121044800-121046200	Genic enhancers	Fetal Muscle Leg	muscle
31	chr8:121044800-121046400	Strong transcription	Gastric	stomach
32	chr8:121044800-121046600	Enhancers	Rectal Smooth Muscle	rectum
33	chr8:121044800-121048200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr8:121044800-121049000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr8:121044800-121049400	Enhancers	Osteobl	bone
36	chr8:121044800-121050000	Enhancers	Ovary	ovary
37	chr8:121045000-121045400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr8:121045000-121045600	Enhancers	Duodenum Smooth Muscle	Duodenum
39	chr8:121045000-121045600	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr8:121045000-121046000	Enhancers	Stomach Smooth Muscle	stomach
41	chr8:121045000-121048000	Weak transcription	Fetal Intestine Large	intestine
42	chr8:121045000-121056600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr8:121045200-121053400	Weak transcription	Liver	Liver

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