Variant report

Variant	rs73044908
Chromosome Location	chr19:38881830-38881831
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:38871440-38886227	PFSK-1	brain:	n/a	n/a
2	POLR2A	chr19:38877152-38881859	PFSK-1	brain:	n/a	n/a
3	ZNF384	chr19:38881799-38882049	K562	blood:	n/a	n/a
4	EP300	chr19:38881764-38881836	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:38881161..38882729-chr19:38901627..38904199,2	K562	blood:
2	chr19:38879257..38881311-chr19:38881648..38883524,3	MCF-7	breast:

Variant related genes	Relation type
SPRED3	TF binding region
GGN	TF binding region
ENSG00000171777	Chromatin interaction
ENSG00000188766	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs11083454	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11538289	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2302228	1.00[EUR][1000 genomes]
rs3745955	0.80[EUR][1000 genomes]
rs3745963	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3760884	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57753437	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs59491640	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60780508	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6508791	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6508792	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6508793	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7245668	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7246085	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7246191	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7246213	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7248540	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7248780	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7257976	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73043029	0.81[EUR][1000 genomes]
rs73043030	0.93[EUR][1000 genomes]
rs73043033	0.93[EUR][1000 genomes]
rs73043098	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73044905	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73044911	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73044915	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73044917	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73044919	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73044923	0.80[EUR][1000 genomes]
rs73044926	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73044928	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73044930	1.00[EUR][1000 genomes]
rs73044932	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73044937	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73044942	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73044944	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73044946	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73044947	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73044948	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73044953	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8108440	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8109713	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8112499	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063471	chr19:38734744-39148392	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	73 gene(s)	inside rSNPs	diseases
2	nsv833822	chr19:38760748-38945105	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
3	nsv911658	chr19:38785318-39002140	Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
4	nsv470140	chr19:38840139-39119494	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
5	nsv911659	chr19:38852357-39002140	Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
6	nsv911660	chr19:38852357-39060238	Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
7	nsv833823	chr19:38855550-39035800	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
8	nsv1064275	chr19:38859865-38913251	Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
9	nsv911661	chr19:38872335-38894829	Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
10	nsv911662	chr19:38872634-38895809	Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
11	esv1803709	chr19:38874828-38900078	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38879600-38884000	Enhancers	K562	blood
2	chr19:38880000-38885200	Weak transcription	Pancreas	Pancrea
3	chr19:38880000-38886400	Weak transcription	Gastric	stomach
4	chr19:38880200-38882400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr19:38880200-38882600	Weak transcription	Aorta	Aorta
6	chr19:38880200-38882800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr19:38880200-38884400	Weak transcription	Brain Hippocampus Middle	brain
8	chr19:38880200-38885000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr19:38880200-38885000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr19:38880200-38885000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr19:38880200-38885200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr19:38880200-38885400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr19:38880200-38887600	Weak transcription	Right Atrium	heart
14	chr19:38880400-38882600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr19:38880400-38884000	Enhancers	A549	lung
16	chr19:38880400-38885000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr19:38880400-38885000	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr19:38880600-38884000	Weak transcription	Psoas Muscle	Psoas
19	chr19:38880800-38882000	Bivalent Enhancer	Fetal Brain Male	brain
20	chr19:38880800-38883400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr19:38880800-38889200	Weak transcription	Brain Angular Gyrus	brain
22	chr19:38881000-38882200	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr19:38881000-38882400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr19:38881000-38882400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr19:38881000-38882400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr19:38881000-38882400	Enhancers	HUVEC	blood vessel
27	chr19:38881000-38882800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr19:38881000-38883400	Weak transcription	HMEC	breast
29	chr19:38881000-38884400	Weak transcription	Brain Anterior Caudate	brain
30	chr19:38881000-38885000	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr19:38881000-38885200	Weak transcription	NHEK	skin
32	chr19:38881000-38887000	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr19:38881000-38887600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr19:38881000-38893200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr19:38881000-38893200	Weak transcription	Brain Cingulate Gyrus	brain
36	chr19:38881000-38893200	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr19:38881000-38893200	Weak transcription	HSMMtube	muscle
38	chr19:38881200-38882200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr19:38881200-38882400	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr19:38881200-38882400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr19:38881200-38882400	Weak transcription	NHDF-Ad	bronchial
42	chr19:38881200-38882600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr19:38881200-38882600	Weak transcription	Osteobl	bone
44	chr19:38881200-38882800	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr19:38881200-38887200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr19:38881400-38882200	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr19:38881400-38882400	Weak transcription	HSMM	muscle
48	chr19:38881400-38882600	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr19:38881400-38883200	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr19:38881400-38883200	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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