Variant report

Variant	rs3760884
Chromosome Location	chr19:38872634-38872635
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:15)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:15 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:38872589-38873106	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr19:38872379-38872970	K562	blood:	n/a	n/a
3	POLR2A	chr19:38870794-38872639	GM12892	blood:	n/a	n/a
4	POLR2A	chr19:38869050-38873371	K562	blood:	n/a	n/a
5	POLR2A	chr19:38872558-38873118	GM12891	blood:	n/a	n/a
6	POLR2A	chr19:38871440-38886227	PFSK-1	brain:	n/a	n/a
7	POLR2A	chr19:38872444-38873294	PANC-1	pancreas:	n/a	n/a
8	POLR2A	chr19:38871306-38873174	HepG2	liver:	n/a	n/a
9	POLR2A	chr19:38869603-38879135	K562	blood:	n/a	n/a
10	POLR2A	chr19:38870771-38873361	GM12878	blood:	n/a	n/a
11	POLR2A	chr19:38872473-38873051	SK-N-MC	brain:	n/a	n/a
12	POLR2A	chr19:38872614-38873213	GM12892	blood:	n/a	n/a
13	POLR2A	chr19:38872609-38873094	GM12892	blood:	n/a	n/a
14	POLR2A	chr19:38871960-38873301	K562	blood:	n/a	n/a
15	POLR2A	chr19:38870877-38872941	A549	lung:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:38738211..38740106-chr19:38872606..38875319,2	K562	blood:
2	chr19:38792696..38794987-chr19:38872066..38874612,2	K562	blood:
3	chr19:38833439..38835200-chr19:38870753..38873004,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000267090	TF binding region
ENSG00000167644	Chromatin interaction
ENSG00000099338	Chromatin interaction

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10993	1.00[CEU][hapmap]
rs11083454	0.82[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11538289	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11880301	1.00[CEU][hapmap]
rs12608722	0.89[YRI][hapmap];0.82[AFR][1000 genomes]
rs2074981	0.81[TSI][hapmap]
rs2270092	0.82[JPT][hapmap]
rs2302228	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28384479	1.00[ASN][1000 genomes]
rs3745953	0.82[JPT][hapmap]
rs3745955	0.80[EUR][1000 genomes]
rs3745963	1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3786874	0.81[TSI][hapmap]
rs3786880	0.82[JPT][hapmap]
rs57753437	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs59491640	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs60780508	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6508790	0.82[AFR][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	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7248780	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7257976	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73043027	0.82[ASN][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]
rs73044908	0.88[AFR][1000 genomes];1.00[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	0.84[AFR][1000 genomes];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];0.85[ASN][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	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8109713	1.00[CEU][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8112499	1.00[CEU][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38866400-38876000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr19:38867000-38874600	Strong transcription	HUES64 Cell Line	embryonic stem cell
3	chr19:38867000-38874800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
4	chr19:38867000-38874800	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr19:38867000-38875600	Strong transcription	Primary neutrophils fromperipheralblood	blood
6	chr19:38867000-38877200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr19:38867000-38878000	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr19:38867200-38874600	Strong transcription	HUES6 Cell Line	embryonic stem cell
9	chr19:38867200-38874800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr19:38867200-38874800	Strong transcription	Fetal Intestine Large	intestine
11	chr19:38867200-38875200	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr19:38867200-38875400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr19:38867200-38877000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr19:38867200-38877200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
15	chr19:38867200-38877400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr19:38867400-38874400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
17	chr19:38867400-38875000	Strong transcription	HUES48 Cell Line	embryonic stem cell
18	chr19:38867400-38875800	Strong transcription	Rectal Mucosa Donor 29	rectum
19	chr19:38867600-38872800	Strong transcription	NHEK	skin
20	chr19:38867600-38873000	Strong transcription	Placenta	Placenta
21	chr19:38867600-38873800	Strong transcription	Fetal Stomach	stomach
22	chr19:38867600-38874800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr19:38867600-38874800	Strong transcription	Fetal Muscle Trunk	muscle
24	chr19:38867600-38875200	Strong transcription	Liver	Liver
25	chr19:38867600-38875400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr19:38867600-38875600	Strong transcription	Fetal Intestine Small	intestine
27	chr19:38867600-38875800	Strong transcription	Primary T cells from cord blood	blood
28	chr19:38867600-38876000	Strong transcription	Primary B cells from peripheral blood	blood
29	chr19:38867600-38876200	Strong transcription	Brain Cingulate Gyrus	brain
30	chr19:38867600-38877400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr19:38867800-38873800	Strong transcription	Fetal Muscle Leg	muscle
32	chr19:38867800-38875000	Strong transcription	Primary T helper naive cells from peripheral blood	blood
33	chr19:38867800-38875000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr19:38867800-38875200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr19:38867800-38875200	Strong transcription	Thymus	Thymus
36	chr19:38867800-38875400	Strong transcription	Duodenum Mucosa	Duodenum
37	chr19:38867800-38875600	Strong transcription	Colon Smooth Muscle	Colon
38	chr19:38867800-38875800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr19:38867800-38875800	Strong transcription	Brain Inferior Temporal Lobe	brain
40	chr19:38867800-38876200	Strong transcription	Adipose Nuclei	Adipose
41	chr19:38867800-38876200	Strong transcription	Brain Hippocampus Middle	brain
42	chr19:38867800-38876600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr19:38867800-38877000	Strong transcription	Muscle Satellite Cultured Cells	--
44	chr19:38868000-38875600	Strong transcription	Primary T helper cells fromperipheralblood	blood
45	chr19:38868000-38875800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr19:38868000-38876000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
47	chr19:38868000-38876000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr19:38868000-38876200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr19:38868000-38877600	Weak transcription	Right Atrium	heart
50	chr19:38868200-38874800	Strong transcription	Primary T cells fromperipheralblood	blood

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