Variant report

Variant	rs8105482
Chromosome Location	chr19:19993873-19993874
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 65 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs1008112	0.87[CEU][hapmap]
rs1019279	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1019280	0.87[CEU][hapmap]
rs10403255	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10407726	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10408752	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10412710	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10414919	1.00[CHB][hapmap];0.94[JPT][hapmap];0.83[ASN][1000 genomes]
rs10415179	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10421280	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs10426937	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1048421	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11666112	0.87[CEU][hapmap]
rs12151060	0.87[CEU][hapmap]
rs12610295	0.86[CEU][hapmap]
rs13344370	1.00[CEU][hapmap];0.90[CHB][hapmap];0.88[JPT][hapmap];0.93[EUR][1000 genomes]
rs1469700	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs1469701	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs2060239	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2110587	0.87[CEU][hapmap]
rs2110589	0.86[CEU][hapmap]
rs2160156	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2335365	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2335366	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2335368	0.94[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28590063	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28888982	0.89[AFR][1000 genomes]
rs3943792	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4808221	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs4809005	0.87[CEU][hapmap]
rs4809006	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4809014	0.86[CEU][hapmap]
rs4809015	0.95[CHB][hapmap];0.94[JPT][hapmap]
rs60765256	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6511058	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6511059	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs66970424	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7246569	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7252079	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7253407	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7254355	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7256224	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7258260	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8105329	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8108528	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8109743	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8113576	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8113694	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063273	chr19:19591146-20061367	ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv911314	chr19:19866371-20021046	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv519535	chr19:19871250-20595412	Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers Flanking 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 miRNA	56 gene(s)	inside rSNPs	diseases
4	nsv911315	chr19:19872093-20021046	Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	nsv911316	chr19:19890450-20021046	Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv961192	chr19:19906394-20083740	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	esv3319016	chr19:19917475-20819154	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	56 gene(s)	inside rSNPs	diseases
8	esv3319017	chr19:19917475-20819154	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	56 gene(s)	inside rSNPs	diseases
9	esv3413756	chr19:19936066-20072059	ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
10	esv3380276	chr19:19936583-20073601	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
11	nsv1066792	chr19:19940585-20000701	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
12	esv3429980	chr19:19943721-20102072	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
13	nsv1061846	chr19:19946927-20595412	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	47 gene(s)	inside rSNPs	diseases
14	esv3390957	chr19:19965887-20819154	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	53 gene(s)	inside rSNPs	diseases
15	nsv869122	chr19:19969851-20595412	ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	47 gene(s)	inside rSNPs	diseases
16	nsv1057569	chr19:19973268-20193556	Enhancers Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
17	nsv1059158	chr19:19973489-20576161	Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Enhancers 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	43 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs8105482	ZNF253	cis	Nerve Tibial	GTEx
rs8105482	ZNF506	Cis_1M	lymphoblastoid	RTeQTL
rs8105482	ZNF682	cis	Muscle Skeletal	GTEx

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19977600-19995600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr19:19977600-20006800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr19:19978600-19995200	Weak transcription	Pancreas	Pancrea
4	chr19:19978600-19996800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr19:19978600-19999000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr19:19978600-19999000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr19:19978600-19999000	Weak transcription	Right Ventricle	heart
8	chr19:19978800-20007600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr19:19979000-20004000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
10	chr19:19979200-20007400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr19:19979400-19996400	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr19:19979400-19996800	Weak transcription	Brain Substantia Nigra	brain
13	chr19:19979400-20008200	ZNF genes & repeats	Liver	Liver
14	chr19:19979600-19996800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr19:19980200-20001000	Weak transcription	Fetal Heart	heart
16	chr19:19981000-19995800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
17	chr19:19982000-19995000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr19:19982000-19995600	ZNF genes & repeats	Fetal Brain Female	brain
19	chr19:19982000-19995800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
20	chr19:19982400-20000200	Weak transcription	Gastric	stomach
21	chr19:19983200-19996600	Weak transcription	Brain Anterior Caudate	brain
22	chr19:19984200-19999400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr19:19986800-20004800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr19:19988000-20001400	Weak transcription	Colon Smooth Muscle	Colon
25	chr19:19988600-20003800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr19:19989000-19994600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr19:19989000-19998200	Weak transcription	Ovary	ovary
28	chr19:19989200-19995600	Strong transcription	Primary T helper cells fromperipheralblood	blood
29	chr19:19989400-19995600	Strong transcription	Primary T helper cells PMA-I stimulated	--
30	chr19:19989600-19995000	Strong transcription	HUES48 Cell Line	embryonic stem cell
31	chr19:19989600-19995800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
32	chr19:19989600-19995800	ZNF genes & repeats	Dnd41	blood
33	chr19:19989600-20007400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr19:19989800-19995800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr19:19989800-19996000	Strong transcription	Fetal Lung	lung
36	chr19:19990000-19994800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr19:19990000-19999000	Weak transcription	HUVEC	blood vessel
38	chr19:19990200-19994000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr19:19990200-19995600	ZNF genes & repeats	Fetal Intestine Large	intestine
40	chr19:19990800-19994400	ZNF genes & repeats	GM12878-XiMat	blood
41	chr19:19990800-19995400	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
42	chr19:19990800-19995600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr19:19990800-19995600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
44	chr19:19990800-19995600	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
45	chr19:19990800-19995600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr19:19990800-19995600	ZNF genes & repeats	Fetal Muscle Trunk	muscle
47	chr19:19990800-19995600	ZNF genes & repeats	Fetal Muscle Leg	muscle
48	chr19:19990800-19995800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
49	chr19:19990800-19998600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr19:19990800-20007000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived

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