Variant report

Variant	rs10854048
Chromosome Location	chr19:21751314-21751315
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 72 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10420016	0.81[ASN][1000 genomes]
rs10854050	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10854051	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11085462	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11085463	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11085465	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11085468	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11668606	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11671579	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1879234	0.84[ASN][1000 genomes]
rs2562398	0.89[ASN][1000 genomes]
rs2562408	0.84[ASN][1000 genomes]
rs2562417	0.80[ASN][1000 genomes]
rs2562466	0.80[ASN][1000 genomes]
rs2562468	0.80[ASN][1000 genomes]
rs2562471	0.80[ASN][1000 genomes]
rs2562507	0.89[ASN][1000 genomes]
rs2562508	0.89[ASN][1000 genomes]
rs2650825	0.81[ASN][1000 genomes]
rs2681370	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2681377	0.80[ASN][1000 genomes]
rs2681388	0.93[ASN][1000 genomes]
rs2681389	0.81[ASN][1000 genomes]
rs2681392	0.81[ASN][1000 genomes]
rs2681395	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2946790	0.93[ASN][1000 genomes]
rs35008138	0.93[ASN][1000 genomes]
rs55771551	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58001930	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62110163	0.93[ASN][1000 genomes]
rs62110202	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62110205	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6511256	0.81[ASN][1000 genomes]
rs6511258	0.81[ASN][1000 genomes]
rs7259708	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:37 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3414204	chr19:21301761-21839451	ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	esv3325271	chr19:21445407-21792817	Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	esv3363678	chr19:21483148-21756908	Strong transcription Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers 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 miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv578952	chr19:21535707-21868584	Genic enhancers Active TSS ZNF genes & repeats Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv833782	chr19:21663537-21845722	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
6	esv2762028	chr19:21685778-21755476	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription 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	5 gene(s)	inside rSNPs	diseases
7	nsv1059328	chr19:21691123-21775948	Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv543942	chr19:21711611-21767567	Strong transcription ZNF genes & repeats Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv543943	chr19:21713945-21759080	Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv543944	chr19:21713945-21767567	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv543945	chr19:21717518-21767567	Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv963025	chr19:21742797-21754765	Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
13	nsv828496	chr19:21745795-21766943	Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
14	nsv543946	chr19:21746555-21767567	Active TSS Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
15	nsv1056332	chr19:21746555-21807647	ZNF genes & repeats Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
16	esv2760514	chr19:21746688-21766892	Flanking Active TSS Active TSS ZNF genes & repeats Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
17	esv3415057	chr19:21748212-21751810	Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription	lncRNA	n/a	inside rSNPs	n/a
18	esv12116	chr19:21748700-21759143	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
19	nsv828497	chr19:21749200-21763258	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
20	nsv828499	chr19:21749342-21763258	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
21	nsv828500	chr19:21749342-21766517	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
22	nsv828501	chr19:21749342-21766548	Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
23	nsv828502	chr19:21749342-21766943	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
24	nsv828503	chr19:21749342-21767506	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
25	nsv828504	chr19:21749342-21767591	Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
26	nsv828505	chr19:21749342-21770133	ZNF genes & repeats Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
27	nsv828506	chr19:21749826-21754934	Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region lncRNA	1 gene(s)	inside rSNPs	n/a
28	nsv543947	chr19:21749857-21772586	Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
29	esv11151	chr19:21749930-21766243	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
30	esv12177	chr19:21750416-21755647	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region lncRNA	1 gene(s)	inside rSNPs	n/a
31	nsv578955	chr19:21750541-21751778	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	inside rSNPs	n/a
32	esv3382762	chr19:21750586-21751900	Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	n/a	n/a	inside rSNPs	n/a
33	esv3319115	chr19:21750593-21751883	Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	inside rSNPs	n/a
34	esv3517445	chr19:21750631-21751873	Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	n/a	n/a	inside rSNPs	n/a
35	esv3450564	chr19:21750712-21758610	Flanking Active TSS Weak transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
36	esv3319116	chr19:21750726-21751714	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	inside rSNPs	n/a
37	esv3517446	chr19:21750726-21751714	Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	n/a	n/a	inside rSNPs	n/a

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs10854048	ZNF708	cis	Muscle Skeletal	GTEx
rs10854048	RP11-678G14.3	cis	Skin Sun Exposed Lower leg	GTEx
rs10854048	ZNF708	cis	Skin Sun Exposed Lower leg	GTEx
rs10854048	RP11-678G14.3	cis	Adipose Subcutaneous	GTEx
rs10854048	RP11-678G14.2	cis	Adipose Subcutaneous	GTEx
rs10854048	ZNF708	cis	lung	GTEx
rs10854048	RP11-678G14.3	cis	lung	GTEx

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21738000-21751400	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr19:21738600-21751600	Weak transcription	Osteobl	bone
3	chr19:21743600-21751600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr19:21746600-21751600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr19:21746600-21751600	Weak transcription	Fetal Brain Male	brain
6	chr19:21748400-21751600	Weak transcription	Stomach Mucosa	stomach
7	chr19:21749000-21751400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr19:21749800-21752800	Active TSS	Duodenum Mucosa	Duodenum
9	chr19:21750200-21752600	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr19:21750400-21752800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
11	chr19:21750400-21752800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr19:21750400-21752800	Active TSS	Rectal Mucosa Donor 29	rectum
13	chr19:21750400-21752800	Active TSS	Rectal Smooth Muscle	rectum
14	chr19:21750400-21752800	Active TSS	Right Ventricle	heart
15	chr19:21750400-21753200	Active TSS	Duodenum Smooth Muscle	Duodenum
16	chr19:21750600-21752800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr19:21750600-21752800	Active TSS	Primary T helper cells fromperipheralblood	blood
18	chr19:21750800-21751400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr19:21750800-21751400	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr19:21750800-21751400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr19:21750800-21751400	Weak transcription	Fetal Intestine Large	intestine
22	chr19:21750800-21751400	Weak transcription	Fetal Muscle Trunk	muscle
23	chr19:21750800-21751400	Weak transcription	Left Ventricle	heart
24	chr19:21750800-21751600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr19:21750800-21751600	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr19:21750800-21751600	Weak transcription	Primary B cells from cord blood	blood
27	chr19:21750800-21751600	Enhancers	Primary B cells from peripheral blood	blood
28	chr19:21750800-21751600	Enhancers	Primary T cells fromperipheralblood	blood
29	chr19:21750800-21751600	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr19:21750800-21751600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr19:21750800-21751600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr19:21750800-21751600	Weak transcription	Liver	Liver
33	chr19:21750800-21751600	Weak transcription	Brain Anterior Caudate	brain
34	chr19:21750800-21751600	Weak transcription	Brain Cingulate Gyrus	brain
35	chr19:21750800-21751600	Weak transcription	Brain Hippocampus Middle	brain
36	chr19:21750800-21751600	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr19:21750800-21751600	Weak transcription	Colonic Mucosa	Colon
38	chr19:21750800-21751600	Weak transcription	Esophagus	oesophagus
39	chr19:21750800-21751600	Weak transcription	Placenta	Placenta
40	chr19:21750800-21751600	Weak transcription	Ovary	ovary
41	chr19:21750800-21751600	Weak transcription	Pancreas	Pancrea
42	chr19:21750800-21751600	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr19:21750800-21751600	Weak transcription	Psoas Muscle	Psoas
44	chr19:21750800-21751600	Weak transcription	Right Atrium	heart
45	chr19:21750800-21751600	Active TSS	Dnd41	blood
46	chr19:21750800-21751600	Weak transcription	NHDF-Ad	bronchial
47	chr19:21750800-21751800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
48	chr19:21750800-21752400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr19:21750800-21752400	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
50	chr19:21750800-21752800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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