Variant report

Variant	rs2519959
Chromosome Location	chr19:35749263-35749264
allele	C/T
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	chr19:35748057-35751220	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr19:35749107-35749358	HepG2	liver:	n/a	n/a
3	POLR2A	chr19:35748030-35751131	K562	blood:	n/a	n/a
4	POLR2A	chr19:35749263-35749322	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:35730623..35733503-chr19:35747196..35750566,3	K562	blood:

Variant related genes	Relation type
ENSG00000271366	TF binding region
ENSG00000268947	TF binding region

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12972214	0.83[EUR][1000 genomes]
rs2267572	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2519960	0.86[AMR][1000 genomes]
rs477681	0.86[EUR][1000 genomes]
rs504389	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432045	chr19:35556260-36520760	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv1060100	chr19:35658505-36170042	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv543993	chr19:35658505-36170042	Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
4	nsv1066553	chr19:35698638-35749563	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
5	nsv510765	chr19:35708226-35890668	Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
6	esv2758497	chr19:35711078-35887113	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
7	esv2758758	chr19:35711078-35887113	Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
8	nsv911618	chr19:35734107-35807845	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
9	esv1836312	chr19:35741456-35786868	Enhancers Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:35741200-35758000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr19:35741400-35757800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr19:35742000-35756200	Strong transcription	NHEK	skin
4	chr19:35742600-35755200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr19:35743200-35750600	Weak transcription	K562	blood
6	chr19:35743800-35756600	Strong transcription	Rectal Mucosa Donor 29	rectum
7	chr19:35744400-35757600	Strong transcription	Fetal Intestine Large	intestine
8	chr19:35744600-35752400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
9	chr19:35744600-35752600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr19:35744800-35750200	Weak transcription	Colonic Mucosa	Colon
11	chr19:35744800-35757600	Strong transcription	H1 Cell Line	embryonic stem cell
12	chr19:35744800-35757600	Strong transcription	HUES48 Cell Line	embryonic stem cell
13	chr19:35744800-35757800	Strong transcription	H9 Cell Line	embryonic stem cell
14	chr19:35744800-35758000	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr19:35745000-35757800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
16	chr19:35745600-35750000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr19:35746000-35751600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr19:35746000-35752400	Weak transcription	Right Ventricle	heart
19	chr19:35746200-35755200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr19:35746400-35750400	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr19:35746600-35749600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr19:35746600-35749800	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr19:35746600-35750600	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr19:35746600-35755000	Weak transcription	GM12878-XiMat	blood
25	chr19:35746600-35757600	Strong transcription	Fetal Intestine Small	intestine
26	chr19:35746600-35757600	Weak transcription	Hela-S3	cervix
27	chr19:35746800-35749400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr19:35746800-35749800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr19:35746800-35750600	Weak transcription	HMEC	breast
30	chr19:35746800-35752000	Enhancers	Liver	Liver
31	chr19:35746800-35752400	Weak transcription	Primary B cells from peripheral blood	blood
32	chr19:35746800-35756000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr19:35747600-35755200	Weak transcription	Fetal Heart	heart
34	chr19:35747800-35749400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr19:35747800-35755400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr19:35747800-35755600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr19:35748200-35750200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr19:35748400-35756000	Strong transcription	Duodenum Mucosa	Duodenum
39	chr19:35748600-35752400	Weak transcription	Stomach Mucosa	stomach
40	chr19:35748800-35749800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr19:35748800-35750200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr19:35748800-35756600	Weak transcription	Primary T cells from cord blood	blood
43	chr19:35748800-35757600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr19:35749000-35749800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr19:35749000-35749800	Weak transcription	Pancreas	Pancrea
46	chr19:35749000-35750800	Strong transcription	Gastric	stomach
47	chr19:35749000-35752000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr19:35749000-35752000	Weak transcription	Lung	lung
49	chr19:35749000-35752200	Weak transcription	Primary T cells fromperipheralblood	blood
50	chr19:35749000-35752200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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