Variant report

Variant	rs8103647
Chromosome Location	chr19:38100452-38100453
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:38094621..38097474-chr19:38099198..38101401,2	K562	blood:

Extended variants
information (count: 88 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs10402671	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10403173	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10404031	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10406379	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10408619	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10409605	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10410588	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10412510	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10412786	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10417576	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10420268	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10420552	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10425795	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11083432	0.94[EUR][1000 genomes]
rs11673023	0.82[EUR][1000 genomes]
rs12459015	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1291	0.83[EUR][1000 genomes]
rs12974225	0.82[EUR][1000 genomes]
rs12979640	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13744	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1531549	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1564206	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1564208	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16958861	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16958863	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1974714	0.81[EUR][1000 genomes]
rs1975937	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1975939	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2075284	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2287229	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2291002	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2385119	0.81[ASN][1000 genomes]
rs28512414	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2909085	0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2909088	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2909093	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2909098	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2909100	0.85[EUR][1000 genomes]
rs2909102	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2909105	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2909109	0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2927739	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2927740	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2927742	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2927746	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2927747	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2972430	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2972434	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2972437	0.85[EUR][1000 genomes]
rs2972438	0.85[EUR][1000 genomes]
rs2972439	0.85[EUR][1000 genomes]
rs2972445	0.82[EUR][1000 genomes]
rs2972446	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2972447	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2972448	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2972452	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2972458	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3101746	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3101747	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3112433	0.86[ASN][1000 genomes]
rs3112434	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35863684	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3829688	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4802024	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4802029	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4803215	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4803231	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4803233	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4803262	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4803263	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4803276	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4803287	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56151076	0.89[ASN][1000 genomes]
rs56317671	0.82[EUR][1000 genomes]
rs62108337	0.85[EUR][1000 genomes]
rs6508736	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8100646	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8103633	0.80[EUR][1000 genomes]
rs8110865	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9304568	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs954504	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs958305	0.92[EUR][1000 genomes]
rs968073	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9749368	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9797618	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9941475	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8103647	ZNF571	cis	multi-tissue	Pritchard

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38086600-38103200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr19:38087200-38103000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr19:38087800-38107400	ZNF genes & repeats	Liver	Liver
4	chr19:38089200-38107200	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
5	chr19:38090400-38105200	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
6	chr19:38090600-38105400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
7	chr19:38091200-38101000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr19:38092200-38103400	Weak transcription	Thymus	Thymus
9	chr19:38092400-38102400	Weak transcription	Dnd41	blood
10	chr19:38093600-38102800	Weak transcription	Fetal Brain Female	brain
11	chr19:38093600-38105000	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
12	chr19:38093800-38101000	Weak transcription	Psoas Muscle	Psoas
13	chr19:38094600-38102600	Weak transcription	Fetal Brain Male	brain
14	chr19:38094600-38103200	Weak transcription	Brain Germinal Matrix	brain
15	chr19:38095400-38107200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
16	chr19:38095600-38105000	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
17	chr19:38095600-38105400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr19:38095800-38101000	Weak transcription	Fetal Kidney	kidney
19	chr19:38096800-38105400	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
20	chr19:38097400-38102600	Strong transcription	Brain Angular Gyrus	brain
21	chr19:38097400-38102600	Strong transcription	Brain Inferior Temporal Lobe	brain
22	chr19:38097600-38100800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr19:38098200-38107200	ZNF genes & repeats	Adipose Nuclei	Adipose
24	chr19:38098800-38100600	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
25	chr19:38098800-38100600	ZNF genes & repeats	Aorta	Aorta
26	chr19:38099000-38101200	Weak transcription	Colonic Mucosa	Colon
27	chr19:38099400-38100800	Weak transcription	Brain Anterior Caudate	brain
28	chr19:38099600-38101000	Weak transcription	Brain Hippocampus Middle	brain
29	chr19:38099600-38101000	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr19:38099600-38101200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr19:38099800-38101000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr19:38099800-38101000	Weak transcription	Brain Substantia Nigra	brain
33	chr19:38099800-38101400	Weak transcription	Left Ventricle	heart
34	chr19:38100000-38100800	Weak transcription	Primary T cells from cord blood	blood
35	chr19:38100000-38100800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr19:38100000-38100800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr19:38100000-38100800	Weak transcription	Brain Cingulate Gyrus	brain
38	chr19:38100000-38100800	Weak transcription	Colon Smooth Muscle	Colon
39	chr19:38100000-38100800	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr19:38100000-38101000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr19:38100000-38101400	Weak transcription	Rectal Smooth Muscle	rectum
42	chr19:38100200-38100800	Weak transcription	Stomach Smooth Muscle	stomach
43	chr19:38100200-38101000	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chr19:38100200-38101800	Strong transcription	Right Ventricle	heart
45	chr19:38100400-38102800	Strong transcription	Skeletal Muscle Male	skeletal muscle
46	chr19:38100400-38103200	Weak transcription	Gastric	stomach
47	chr19:38100400-38103200	Strong transcription	Ovary	ovary
48	chr19:38100400-38103400	Weak transcription	Pancreas	Pancrea

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