Variant report

Variant	rs8109743
Chromosome Location	chr19:20033514-20033515
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1019279	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10403255	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10407726	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10408752	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10412710	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10414919	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs10415179	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10426937	0.88[EUR][1000 genomes]
rs1048421	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13344370	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2060239	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2160156	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2335365	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2335366	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2335368	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28590063	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3943792	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4809006	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4809016	0.87[ASN][1000 genomes]
rs55816500	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs60765256	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6511058	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6511059	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66970424	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7246569	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7252079	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7253407	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7254355	0.88[EUR][1000 genomes]
rs7256224	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7258260	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73532705	0.82[EUR][1000 genomes]
rs8105329	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8105482	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8108528	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8113576	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8113694	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 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	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	esv3407363	chr19:20000919-20059307	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
15	nsv1056595	chr19:20020626-20061367	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
16	nsv458376	chr19:20021046-20151257	Strong transcription ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
17	nsv578800	chr19:20021046-20151257	Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
18	nsv911319	chr19:20025940-20170214	ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs8109743	ZNF682	cis	Muscle Skeletal	GTEx
rs8109743	ZNF253	Cis_1M	lymphoblastoid	RTeQTL
rs8109743	ZNF93	cis	Thyroid	GTEx
rs8109743	ZNF506	Cis_1M	lymphoblastoid	RTeQTL
rs8109743	ZNF253	cis	Nerve Tibial	GTEx

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:20012800-20034200	Weak transcription	Pancreas	Pancrea
2	chr19:20012800-20034200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr19:20012800-20034600	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr19:20012800-20043400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr19:20013000-20034000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr19:20013000-20034600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr19:20013000-20034600	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr19:20013000-20035200	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr19:20013000-20039600	Weak transcription	Colon Smooth Muscle	Colon
10	chr19:20013200-20034600	Weak transcription	Primary T cells from cord blood	blood
11	chr19:20013200-20043600	Weak transcription	Fetal Brain Male	brain
12	chr19:20013400-20033600	Weak transcription	Primary B cells from peripheral blood	blood
13	chr19:20013400-20034000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr19:20013400-20034000	Weak transcription	Placenta	Placenta
15	chr19:20013400-20034200	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr19:20013400-20035800	Weak transcription	Osteobl	bone
17	chr19:20014800-20034000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr19:20016000-20034200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr19:20016000-20034800	Weak transcription	K562	blood
20	chr19:20016400-20034000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr19:20016800-20034000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr19:20021000-20034000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr19:20021000-20034000	Weak transcription	Fetal Muscle Leg	muscle
24	chr19:20021800-20035600	Weak transcription	HSMM	muscle
25	chr19:20022200-20038400	Weak transcription	Fetal Heart	heart
26	chr19:20022800-20034000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr19:20022800-20034000	Weak transcription	Small Intestine	intestine
28	chr19:20024400-20033600	Weak transcription	Fetal Brain Female	brain
29	chr19:20025000-20034600	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr19:20025000-20035600	Weak transcription	HUVEC	blood vessel
31	chr19:20025200-20034200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr19:20025600-20037600	Weak transcription	Colonic Mucosa	Colon
33	chr19:20025600-20038000	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr19:20026000-20033600	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr19:20027600-20034000	Weak transcription	Primary B cells from cord blood	blood
36	chr19:20027600-20034000	Weak transcription	Fetal Stomach	stomach
37	chr19:20027600-20034200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr19:20027600-20043200	Weak transcription	HSMMtube	muscle
39	chr19:20027800-20034000	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr19:20027800-20034200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr19:20028000-20033600	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr19:20028000-20034000	Weak transcription	Fetal Muscle Trunk	muscle
43	chr19:20028600-20034000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr19:20028600-20034000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr19:20028600-20034000	Weak transcription	Fetal Intestine Small	intestine
46	chr19:20028600-20034600	Weak transcription	Fetal Kidney	kidney
47	chr19:20028800-20033600	Weak transcription	Liver	Liver
48	chr19:20028800-20034000	Weak transcription	Fetal Thymus	thymus
49	chr19:20028800-20034000	Weak transcription	Dnd41	blood
50	chr19:20028800-20034000	Weak transcription	Monocytes-CD14+_RO01746	blood

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