Variant report

Variant	rs3095726
Chromosome Location	chr19:38229824-38229825
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 90 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs10048511	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10402671	0.82[ASN][1000 genomes]
rs10403173	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10404031	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10404567	0.93[CEU][hapmap]
rs10406379	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10408619	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10409402	0.84[ASN][1000 genomes]
rs10409487	0.84[ASN][1000 genomes]
rs10409605	0.85[ASN][1000 genomes]
rs10417576	0.85[ASN][1000 genomes]
rs10420746	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11083432	0.93[CEU][hapmap];0.94[JPT][hapmap];0.83[EUR][1000 genomes]
rs1119229	0.82[CEU][hapmap]
rs11673023	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1291	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12974225	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12979640	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13744	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1564208	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16958861	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs16958863	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs171376	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1974714	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1975937	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2075281	0.94[CEU][hapmap];0.82[CHB][hapmap]
rs2075284	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2287229	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2291002	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs241932	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs241933	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs241950	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2909085	0.87[ASN][1000 genomes]
rs2909088	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2909093	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2909098	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2909100	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2909102	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2909105	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2909109	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs2927739	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2927740	0.93[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.84[ASN][1000 genomes]
rs2927742	0.81[ASN][1000 genomes]
rs2927746	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2927747	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2972430	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2972434	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2972437	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2972438	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2972439	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2972445	0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2972446	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2972447	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2972448	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs2972458	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3095724	0.91[ASN][1000 genomes]
rs3101746	0.80[ASN][1000 genomes]
rs3101747	0.84[ASN][1000 genomes]
rs3112433	0.82[ASN][1000 genomes]
rs3112434	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35863684	0.82[ASN][1000 genomes]
rs3829688	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4802024	0.93[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap]
rs4802029	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4802135	0.86[CHB][hapmap];0.80[JPT][hapmap]
rs4803262	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4803509	0.84[ASN][1000 genomes]
rs4803524	0.93[CEU][hapmap];0.81[CHB][hapmap]
rs4803551	0.82[CEU][hapmap]
rs4803573	0.82[CEU][hapmap]
rs56151076	0.87[ASN][1000 genomes]
rs6508736	0.93[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs6508742	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs705494	0.93[CEU][hapmap];0.81[CHB][hapmap]
rs705495	0.82[CEU][hapmap]
rs7250409	0.93[CEU][hapmap];0.81[CHB][hapmap]
rs8102579	0.93[CEU][hapmap];0.81[CHB][hapmap]
rs8103633	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8110284	0.93[CEU][hapmap];0.82[CHB][hapmap]
rs8112706	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs856300	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs856304	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9304569	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs954504	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs958305	0.93[CEU][hapmap];0.94[JPT][hapmap];0.86[EUR][1000 genomes]
rs968073	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9749368	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
3	nsv833820	chr19:38190721-38414049	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3095726	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	chr19:38211000-38230200	Weak transcription	Hela-S3	cervix
2	chr19:38221200-38241800	ZNF genes & repeats	Liver	Liver
3	chr19:38224600-38241600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr19:38225200-38232400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
5	chr19:38225200-38232400	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
6	chr19:38225200-38232400	ZNF genes & repeats	Duodenum Mucosa	Duodenum
7	chr19:38225200-38232400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
8	chr19:38225200-38232400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
9	chr19:38225200-38237200	ZNF genes & repeats	Adipose Nuclei	Adipose
10	chr19:38225400-38231600	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr19:38225400-38232400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr19:38225400-38232400	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
13	chr19:38226000-38232200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
14	chr19:38226200-38232200	ZNF genes & repeats	Primary T cells from cord blood	blood
15	chr19:38226200-38232400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr19:38227200-38231600	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
17	chr19:38227400-38231000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
18	chr19:38227400-38232400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr19:38227400-38233600	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
20	chr19:38227600-38230800	ZNF genes & repeats	Brain Hippocampus Middle	brain
21	chr19:38227600-38231600	ZNF genes & repeats	Ovary	ovary
22	chr19:38228200-38231400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr19:38228200-38231800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr19:38228200-38232000	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
25	chr19:38228400-38232200	ZNF genes & repeats	Colon Smooth Muscle	Colon
26	chr19:38228400-38232400	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr19:38228400-38232400	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
28	chr19:38228400-38232400	ZNF genes & repeats	Fetal Muscle Leg	muscle
29	chr19:38228600-38230400	Weak transcription	Fetal Stomach	stomach
30	chr19:38228600-38231000	ZNF genes & repeats	Brain Substantia Nigra	brain
31	chr19:38228600-38231400	ZNF genes & repeats	Rectal Smooth Muscle	rectum
32	chr19:38228800-38230400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr19:38229000-38230000	Weak transcription	Fetal Thymus	thymus
34	chr19:38229000-38231200	ZNF genes & repeats	Psoas Muscle	Psoas
35	chr19:38229000-38231600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr19:38229000-38238000	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
37	chr19:38229200-38230400	ZNF genes & repeats	Brain Cingulate Gyrus	brain
38	chr19:38229200-38230400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr19:38229200-38230400	ZNF genes & repeats	Fetal Muscle Trunk	muscle
40	chr19:38229200-38230600	ZNF genes & repeats	Right Ventricle	heart
41	chr19:38229200-38230800	ZNF genes & repeats	Aorta	Aorta
42	chr19:38229200-38230800	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
43	chr19:38229200-38231000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr19:38229200-38231000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
45	chr19:38229200-38231000	ZNF genes & repeats	Fetal Intestine Large	intestine
46	chr19:38229200-38231000	ZNF genes & repeats	Fetal Kidney	kidney
47	chr19:38229200-38231000	ZNF genes & repeats	Left Ventricle	heart
48	chr19:38229200-38231400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr19:38229200-38231400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr19:38229200-38231600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell

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