Variant report

Variant	rs11083432
Chromosome Location	chr19:38182633-38182634
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 94 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:92)

rs_ID	r²[population]
rs10402671	0.94[EUR][1000 genomes]
rs10403173	1.00[CEU][hapmap];0.91[GIH][hapmap];0.94[JPT][hapmap];0.82[MKK][hapmap];0.91[TSI][hapmap];0.89[EUR][1000 genomes]
rs10404031	1.00[CEU][hapmap];0.91[GIH][hapmap];0.94[JPT][hapmap];0.82[MKK][hapmap];0.91[TSI][hapmap];0.87[EUR][1000 genomes]
rs10406379	1.00[CEU][hapmap];0.88[GIH][hapmap];0.94[JPT][hapmap];0.82[MKK][hapmap];0.91[TSI][hapmap];0.86[EUR][1000 genomes]
rs10408619	1.00[CEU][hapmap];0.94[JPT][hapmap];0.87[EUR][1000 genomes]
rs10409605	0.95[EUR][1000 genomes]
rs10410588	0.87[EUR][1000 genomes]
rs10412510	0.89[EUR][1000 genomes]
rs10412786	0.87[EUR][1000 genomes]
rs10417576	0.96[EUR][1000 genomes]
rs10420268	0.89[EUR][1000 genomes]
rs10420552	0.89[EUR][1000 genomes]
rs10420746	1.00[CEU][hapmap];0.94[JPT][hapmap]
rs10425795	0.87[EUR][1000 genomes]
rs1119229	0.88[CEU][hapmap]
rs11673023	0.87[EUR][1000 genomes]
rs1291	1.00[CEU][hapmap];0.95[GIH][hapmap];0.94[JPT][hapmap];0.96[TSI][hapmap];0.88[EUR][1000 genomes]
rs12974225	1.00[CEU][hapmap];0.93[GIH][hapmap];0.94[JPT][hapmap];0.96[TSI][hapmap];0.87[EUR][1000 genomes]
rs12979640	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.80[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13744	1.00[CEU][hapmap];0.91[GIH][hapmap];0.94[JPT][hapmap];0.82[MKK][hapmap];0.91[TSI][hapmap];0.89[EUR][1000 genomes]
rs1531549	0.94[EUR][1000 genomes]
rs1564206	0.87[EUR][1000 genomes]
rs1564208	1.00[CEU][hapmap];0.88[GIH][hapmap];0.94[JPT][hapmap];0.84[LWK][hapmap];0.88[MKK][hapmap];0.91[TSI][hapmap];0.87[EUR][1000 genomes]
rs16958861	0.93[CEU][hapmap];0.94[JPT][hapmap];0.94[EUR][1000 genomes]
rs16958863	1.00[CEU][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.89[LWK][hapmap];0.90[MKK][hapmap];0.96[TSI][hapmap];0.97[EUR][1000 genomes]
rs1974714	0.86[EUR][1000 genomes]
rs1975937	1.00[CEU][hapmap];0.94[JPT][hapmap];0.93[EUR][1000 genomes]
rs1975939	0.89[EUR][1000 genomes]
rs2075281	1.00[CEU][hapmap]
rs2075284	0.94[EUR][1000 genomes]
rs2287229	1.00[CEU][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.89[LWK][hapmap];0.92[MKK][hapmap];0.96[TSI][hapmap];0.97[EUR][1000 genomes]
rs2291002	1.00[CEU][hapmap];0.91[GIH][hapmap];0.94[JPT][hapmap];0.82[MKK][hapmap];0.91[TSI][hapmap];0.87[EUR][1000 genomes]
rs241932	1.00[CEU][hapmap];0.93[GIH][hapmap];0.94[JPT][hapmap];0.96[TSI][hapmap];0.80[EUR][1000 genomes]
rs28512414	0.89[EUR][1000 genomes]
rs2909088	0.93[GIH][hapmap];0.94[JPT][hapmap];0.89[LWK][hapmap];0.92[MKK][hapmap];0.82[TSI][hapmap];0.81[ASN][1000 genomes]
rs2909093	0.94[CEU][hapmap];0.98[GIH][hapmap];0.94[JPT][hapmap];0.89[LWK][hapmap];0.92[MKK][hapmap];0.92[TSI][hapmap];0.93[EUR][1000 genomes]
rs2909098	1.00[CEU][hapmap];0.98[GIH][hapmap];0.94[JPT][hapmap];0.89[LWK][hapmap];0.92[MKK][hapmap];0.96[TSI][hapmap];0.92[EUR][1000 genomes]
rs2909100	0.90[EUR][1000 genomes]
rs2909102	1.00[CEU][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.89[LWK][hapmap];0.90[MKK][hapmap];0.96[TSI][hapmap];0.97[EUR][1000 genomes]
rs2909105	1.00[CEU][hapmap];0.98[GIH][hapmap];0.94[JPT][hapmap];0.89[LWK][hapmap];0.92[MKK][hapmap];0.96[TSI][hapmap];0.97[EUR][1000 genomes]
rs2909109	0.93[GIH][hapmap];0.94[JPT][hapmap];0.89[LWK][hapmap];0.92[MKK][hapmap];0.82[TSI][hapmap]
rs2927739	1.00[CEU][hapmap];0.94[JPT][hapmap];0.97[EUR][1000 genomes]
rs2927740	1.00[CEU][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];0.86[MKK][hapmap];0.96[TSI][hapmap];0.95[EUR][1000 genomes]
rs2927742	0.87[EUR][1000 genomes]
rs2927746	0.97[EUR][1000 genomes]
rs2927747	1.00[CEU][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.89[LWK][hapmap];0.90[MKK][hapmap];0.96[TSI][hapmap];0.97[EUR][1000 genomes]
rs2972430	0.98[EUR][1000 genomes]
rs2972434	0.93[EUR][1000 genomes]
rs2972437	1.00[CEU][hapmap];0.98[GIH][hapmap];0.94[JPT][hapmap];0.89[LWK][hapmap];0.90[MKK][hapmap];0.96[TSI][hapmap];0.90[EUR][1000 genomes]
rs2972438	1.00[CEU][hapmap];0.98[GIH][hapmap];0.94[JPT][hapmap];0.89[LWK][hapmap];0.92[MKK][hapmap];0.96[TSI][hapmap];0.90[EUR][1000 genomes]
rs2972439	1.00[CEU][hapmap];0.98[GIH][hapmap];0.94[JPT][hapmap];0.89[LWK][hapmap];0.92[MKK][hapmap];0.96[TSI][hapmap];0.90[EUR][1000 genomes]
rs2972445	0.87[EUR][1000 genomes]
rs2972446	0.97[EUR][1000 genomes]
rs2972447	1.00[CEU][hapmap];0.94[JPT][hapmap];0.97[EUR][1000 genomes]
rs2972448	0.93[GIH][hapmap];0.94[JPT][hapmap];0.89[LWK][hapmap];0.92[MKK][hapmap];0.82[TSI][hapmap]
rs2972458	0.97[EUR][1000 genomes]
rs3095726	0.93[CEU][hapmap];0.94[JPT][hapmap];0.83[EUR][1000 genomes]
rs3101746	0.93[EUR][1000 genomes]
rs3101747	0.95[EUR][1000 genomes]
rs3112434	0.93[EUR][1000 genomes]
rs35863684	0.94[EUR][1000 genomes]
rs3829688	1.00[CEU][hapmap];0.91[GIH][hapmap];0.94[JPT][hapmap];0.82[MKK][hapmap];0.91[TSI][hapmap];0.89[EUR][1000 genomes]
rs4802024	1.00[CEU][hapmap];0.91[GIH][hapmap];0.89[JPT][hapmap];0.82[MKK][hapmap];0.91[TSI][hapmap];0.89[EUR][1000 genomes]
rs4802029	1.00[CEU][hapmap];0.94[JPT][hapmap];0.88[EUR][1000 genomes]
rs4803215	0.87[EUR][1000 genomes]
rs4803231	0.89[EUR][1000 genomes]
rs4803233	0.87[EUR][1000 genomes]
rs4803262	1.00[CEU][hapmap];0.94[JPT][hapmap];0.88[EUR][1000 genomes]
rs4803263	0.88[EUR][1000 genomes]
rs4803276	0.89[EUR][1000 genomes]
rs4803287	0.89[EUR][1000 genomes]
rs4803524	1.00[CEU][hapmap];0.88[GIH][hapmap];0.92[TSI][hapmap]
rs56151076	0.93[AFR][1000 genomes]
rs56317671	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62108337	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6508736	1.00[CEU][hapmap];0.91[GIH][hapmap];0.94[JPT][hapmap];0.82[MKK][hapmap];0.91[TSI][hapmap];0.89[EUR][1000 genomes]
rs7246461	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs8100646	0.85[EUR][1000 genomes]
rs8102579	1.00[CEU][hapmap];0.92[TSI][hapmap]
rs8103633	0.86[EUR][1000 genomes]
rs8103647	0.94[EUR][1000 genomes]
rs8110865	0.89[EUR][1000 genomes]
rs8112706	1.00[CEU][hapmap];0.94[JPT][hapmap]
rs856300	0.94[CEU][hapmap];0.91[GIH][hapmap];0.94[JPT][hapmap];0.96[TSI][hapmap];0.81[EUR][1000 genomes]
rs856304	1.00[CEU][hapmap];0.90[GIH][hapmap];0.94[JPT][hapmap];0.91[TSI][hapmap]
rs9304568	0.89[EUR][1000 genomes]
rs954504	1.00[CEU][hapmap];0.94[JPT][hapmap];0.89[EUR][1000 genomes]
rs958305	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.96[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs968073	1.00[CEU][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.89[LWK][hapmap];0.90[MKK][hapmap];0.96[TSI][hapmap];0.97[EUR][1000 genomes]
rs9749368	0.97[EUR][1000 genomes]
rs9797618	0.87[EUR][1000 genomes]
rs9941475	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv579468	chr19:37977609-38293487	ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv949296	chr19:38034722-38763140	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs11083432	HIPK4	cis	cerebellum	SCAN
rs11083432	PAFAH1B3	cis	cerebellum	SCAN
rs11083432	CBLC	cis	parietal	SCAN
rs11083432	DMPK	cis	parietal	SCAN
rs11083432	PHLDB3	cis	parietal	SCAN
rs11083432	PHLDB3	cis	cerebellum	SCAN
rs11083432	ZNF571	cis	multi-tissue	Pritchard

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38173600-38182800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr19:38177600-38182800	Weak transcription	Gastric	stomach
3	chr19:38180800-38182800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr19:38181200-38183600	Active TSS	Brain Germinal Matrix	brain
5	chr19:38182000-38183600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr19:38182200-38182800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr19:38182200-38182800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
8	chr19:38182200-38182800	Flanking Active TSS	Adipose Nuclei	Adipose
9	chr19:38182200-38182800	Active TSS	Right Atrium	heart
10	chr19:38182200-38183400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
11	chr19:38182200-38183600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr19:38182200-38183600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
13	chr19:38182200-38183600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr19:38182200-38183600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr19:38182200-38183600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
16	chr19:38182200-38183600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr19:38182200-38183600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr19:38182200-38183600	Active TSS	Colon Smooth Muscle	Colon
19	chr19:38182200-38183600	Active TSS	Duodenum Smooth Muscle	Duodenum
20	chr19:38182200-38183600	Active TSS	Fetal Kidney	kidney
21	chr19:38182200-38183600	Active TSS	Pancreatic Islets	Pancreatic Islet
22	chr19:38182200-38183600	Active TSS	Psoas Muscle	Psoas
23	chr19:38182200-38183600	Active TSS	Rectal Mucosa Donor 29	rectum
24	chr19:38182200-38183600	Active TSS	Stomach Smooth Muscle	stomach
25	chr19:38182200-38183600	Active TSS	HepG2	liver
26	chr19:38182200-38183600	Active TSS	NHDF-Ad	bronchial
27	chr19:38182200-38183600	Active TSS	NHLF	lung
28	chr19:38182200-38183600	Active TSS	Osteobl	bone
29	chr19:38182200-38184000	Active TSS	Skeletal Muscle Male	skeletal muscle
30	chr19:38182200-38184200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr19:38182200-38184200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr19:38182200-38184200	Active TSS	Duodenum Mucosa	Duodenum
33	chr19:38182200-38184200	Flanking Active TSS	Dnd41	blood
34	chr19:38182200-38184400	Active TSS	Brain Hippocampus Middle	brain
35	chr19:38182400-38182800	Flanking Active TSS	Primary T cells from cord blood	blood
36	chr19:38182400-38182800	Flanking Active TSS	Primary hematopoietic stem cells	blood
37	chr19:38182400-38182800	Active TSS	Primary hematopoietic stem cells short term culture	blood
38	chr19:38182400-38182800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
39	chr19:38182400-38182800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
40	chr19:38182400-38182800	Enhancers	Primary T killer memory cells from peripheral blood	blood
41	chr19:38182400-38183200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
42	chr19:38182400-38183600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr19:38182400-38183600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
44	chr19:38182400-38183600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
45	chr19:38182400-38183600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr19:38182400-38183600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
47	chr19:38182400-38183600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
48	chr19:38182400-38183600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
49	chr19:38182400-38183600	Active TSS	Muscle Satellite Cultured Cells	--
50	chr19:38182400-38183600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin

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