Variant report

Variant	rs61734889
Chromosome Location	chr19:53057492-53057493
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	ZNF274	chr19:53057129-53058554	NT2-D1	testis:	n/a	n/a
2	SETDB1	chr19:53057282-53058825	U2OS	brain:	n/a	n/a
3	POLR2A	chr19:53057448-53058586	GM12878	blood:	n/a	n/a
4	ZNF274	chr19:53057104-53058608	K562	blood:	n/a	n/a
5	CEBPB	chr19:53057465-53057824	HepG2	liver:	n/a	n/a
6	ZNF274	chr19:53057419-53058336	GM12878	blood:	n/a	n/a
7	ZNF274	chr19:53057256-53058387	H1-hESC	embryonic stem cell:	n/a	n/a
8	SETDB1	chr19:53057075-53058520	K562	blood:	n/a	n/a
9	ZNF274	chr19:53057317-53058556	GM08714	blood:	n/a	n/a
10	KAP1	chr19:53056983-53058504	K562	blood:	n/a	n/a
11	POLR2A	chr19:53056869-53057729	GM12892	blood:	n/a	n/a
12	ZNF274	chr19:53057383-53058415	K562	blood:	n/a	n/a
13	CEBPB	chr19:53057468-53057810	IMR90	lung:	n/a	n/a
14	CEBPB	chr19:53057476-53057816	A549	lung:	n/a	n/a
15	CBX3	chr19:53057411-53058731	K562	blood:	n/a	n/a
16	POLR2A	chr19:53057269-53058052	K562	blood:	n/a	n/a
17	CEBPB	chr19:53057479-53057806	K562	blood:	n/a	n/a
18	ZNF274	chr19:53057084-53058398	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
ZNF701	TF binding region

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs2061652	1.00[AFR][1000 genomes]
rs2126502	1.00[AFR][1000 genomes]
rs56956089	0.86[AFR][1000 genomes]
rs60617297	1.00[AFR][1000 genomes]
rs73576286	0.86[AFR][1000 genomes]
rs73578246	1.00[AFR][1000 genomes]
rs73586738	0.86[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv580026	chr19:52937100-53059872	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1057296	chr19:52950339-53396986	Weak transcription Active TSS ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv978841	chr19:52983057-53088237	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv510772	chr19:53037211-53103470	ZNF genes & repeats Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv1065584	chr19:53043126-53127459	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:53040400-53057600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr19:53042000-53070400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr19:53042200-53068200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
4	chr19:53042600-53061200	ZNF genes & repeats	Liver	Liver
5	chr19:53044400-53059000	ZNF genes & repeats	GM12878-XiMat	blood
6	chr19:53044800-53061200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr19:53046200-53059800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr19:53046400-53059200	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr19:53046400-53069200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
10	chr19:53046600-53058400	ZNF genes & repeats	Spleen	Spleen
11	chr19:53047400-53068200	ZNF genes & repeats	Thymus	Thymus
12	chr19:53047600-53058600	Strong transcription	Placenta Amnion	Placenta Amnion
13	chr19:53047800-53068600	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr19:53048000-53066400	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
15	chr19:53048600-53061200	ZNF genes & repeats	Duodenum Mucosa	Duodenum
16	chr19:53049400-53063800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
17	chr19:53049600-53060400	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
18	chr19:53050200-53057800	Strong transcription	Fetal Muscle Trunk	muscle
19	chr19:53050400-53065400	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
20	chr19:53050400-53069200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr19:53050600-53061200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr19:53050800-53061200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr19:53051000-53061400	ZNF genes & repeats	Primary B cells from peripheral blood	blood
24	chr19:53051000-53068000	ZNF genes & repeats	Fetal Intestine Large	intestine
25	chr19:53051200-53061200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
26	chr19:53051400-53059200	ZNF genes & repeats	Primary T cells from cord blood	blood
27	chr19:53051400-53068200	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
28	chr19:53051600-53058600	ZNF genes & repeats	Primary B cells from cord blood	blood
29	chr19:53051600-53059600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr19:53051600-53061200	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
31	chr19:53051600-53061200	ZNF genes & repeats	Adipose Nuclei	Adipose
32	chr19:53051600-53061400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr19:53051600-53061600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr19:53051600-53068000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr19:53051600-53068200	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
36	chr19:53051600-53073200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr19:53051800-53058600	ZNF genes & repeats	Gastric	stomach
38	chr19:53052000-53059000	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
39	chr19:53052000-53067400	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
40	chr19:53052000-53067800	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
41	chr19:53052200-53058600	ZNF genes & repeats	Colonic Mucosa	Colon
42	chr19:53052200-53059000	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
43	chr19:53052200-53059600	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr19:53052200-53063400	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
45	chr19:53052200-53067800	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
46	chr19:53053200-53058800	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
47	chr19:53053200-53059600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr19:53053600-53067800	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
49	chr19:53054000-53059400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
50	chr19:53054000-53060000	ZNF genes & repeats	Fetal Lung	lung

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