Variant report

Variant	rs565735023
Chromosome Location	chr19:18746158-18746159
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	CTCF	chr19:18746113-18746170	Hela-S3	cervix:	n/a	n/a
2	CTCF	chr19:18746020-18746170	WERI-Rb-1	eye:	n/a	n/a
3	MXI1	chr19:18745685-18746225	IMR90	lung:	n/a	n/a
4	CTCF	chr19:18746040-18746190	NHDF-neo	bronchial:	n/a	chr19:18746163-18746171
5	CTCF	chr19:18746135-18746167	MCF-7	breast:	n/a	n/a
6	SMC3	chr19:18746033-18746240	HepG2	liver:	n/a	n/a
7	MAX	chr19:18745660-18746239	ECC-1	luminal epithelium:	n/a	n/a
8	CTCF	chr19:18746040-18746190	WERI-Rb-1	eye:	n/a	chr19:18746163-18746171
9	CTCF	chr19:18746080-18746230	HBMEC	blood vessel:	n/a	chr19:18746163-18746171
10	CTCF	chr19:18746073-18746179	HepG2	liver:	n/a	chr19:18746163-18746171
11	CTCF	chr19:18746080-18746230	GM12866	blood:	n/a	chr19:18746163-18746171
12	CTCF	chr19:18746080-18746230	HCPEpiC	choroid plexus:	n/a	chr19:18746163-18746171
13	CTCF	chr19:18746105-18746164	MCF-7	breast:	n/a	n/a
14	CTCF	chr19:18746060-18746210	HVMF	connective:	n/a	chr19:18746163-18746171
15	CTCF	chr19:18746060-18746210	HEK293	kidney:	n/a	chr19:18746163-18746171
16	CTCF	chr19:18746060-18746210	HepG2	liver:	n/a	chr19:18746163-18746171

No.	Distal block	Cell Line	Cell type
1	chr19:18738729..18743227-chr19:18745299..18749316,6	K562	blood:
2	chr19:18699138..18701400-chr19:18744196..18746923,2	K562	blood:
3	chr19:18745231..18747115-chr19:18793241..18795774,2	MCF-7	breast:
4	chr19:18716807..18719687-chr19:18745756..18748857,3	K562	blood:
5	chr19:18681409..18685264-chr19:18744559..18747664,3	MCF-7	breast:
6	chr19:18739642..18741715-chr19:18744659..18746767,2	MCF-7	breast:
7	chr19:18704018..18706684-chr19:18745467..18747163,2	MCF-7	breast:
8	chr19:18681104..18684544-chr19:18745683..18749906,4	K562	blood:
9	chr19:18698512..18700358-chr19:18745222..18750244,4	K562	blood:
10	chr19:18740493..18743219-chr19:18745834..18748100,2	K562	blood:
11	chr19:18744967..18748846-chr19:18753096..18757449,4	MCF-7	breast:
12	chr19:18744815..18748522-chr19:18792822..18794594,3	K562	blood:

Variant related genes	Relation type
RN7SL155P	TF binding region
KLHL26	TF binding region
ENSG00000167487	Chromatin interaction
ENSG00000221983	Chromatin interaction
ENSG00000006016	Chromatin interaction
ENSG00000006015	Chromatin interaction
ENSG00000263490	Chromatin interaction
ENSG00000105696	Chromatin interaction
ENSG00000105662	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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	nsv1057795	chr19:18453362-18883844	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
2	nsv543925	chr19:18453362-18883844	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
3	nsv532615	chr19:18534867-18796031	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
4	nsv911281	chr19:18613917-18758255	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
5	nsv911282	chr19:18624964-18928480	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
6	nsv833776	chr19:18638028-18782264	Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
7	nsv911286	chr19:18652844-18811112	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
8	nsv911289	chr19:18700047-18811112	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
9	esv3332947	chr19:18745902-18749700	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18725600-18747200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr19:18729400-18747200	Weak transcription	Brain Angular Gyrus	brain
3	chr19:18740600-18746600	Weak transcription	Fetal Brain Female	brain
4	chr19:18740800-18746600	Weak transcription	Brain Anterior Caudate	brain
5	chr19:18740800-18746600	Weak transcription	Brain Substantia Nigra	brain
6	chr19:18740800-18747200	Weak transcription	Brain Hippocampus Middle	brain
7	chr19:18740800-18747200	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr19:18741200-18746800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr19:18741200-18747200	Weak transcription	Adipose Nuclei	Adipose
10	chr19:18744400-18746200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr19:18744600-18746200	Weak transcription	Pancreas	Pancrea
12	chr19:18745200-18746600	Bivalent Enhancer	Fetal Muscle Leg	muscle
13	chr19:18745600-18746200	Active TSS	Fetal Kidney	kidney
14	chr19:18745600-18746200	Enhancers	Pancreatic Islets	Pancreatic Islet
15	chr19:18745600-18746200	Bivalent Enhancer	Fetal Thymus	thymus
16	chr19:18745600-18746200	Bivalent Enhancer	K562	blood
17	chr19:18745600-18746400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr19:18745600-18746400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
19	chr19:18745600-18746400	Bivalent Enhancer	Fetal Stomach	stomach
20	chr19:18745600-18746600	Enhancers	Duodenum Mucosa	Duodenum
21	chr19:18745600-18746600	Enhancers	Esophagus	oesophagus
22	chr19:18745600-18746600	Enhancers	Fetal Lung	lung
23	chr19:18745600-18746600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
24	chr19:18745600-18746600	Bivalent Enhancer	Placenta	Placenta
25	chr19:18745600-18746800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr19:18745600-18746800	Enhancers	Right Ventricle	heart
27	chr19:18745600-18746800	Flanking Active TSS	HepG2	liver
28	chr19:18745600-18747000	Enhancers	Primary T helper cells PMA-I stimulated	--
29	chr19:18745600-18747200	Enhancers	Primary T cells fromperipheralblood	blood
30	chr19:18745600-18747200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr19:18745600-18747200	Enhancers	Rectal Mucosa Donor 31	rectum
32	chr19:18745600-18747200	Enhancers	NHEK	skin
33	chr19:18745600-18747800	Enhancers	Fetal Brain Male	brain
34	chr19:18745800-18746200	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr19:18745800-18746400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr19:18745800-18746600	Enhancers	Right Atrium	heart
37	chr19:18745800-18746800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr19:18745800-18746800	Enhancers	Primary hematopoietic stem cells	blood
39	chr19:18745800-18747200	Enhancers	Primary T cells from cord blood	blood
40	chr19:18745800-18747200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
41	chr19:18745800-18747200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
42	chr19:18745800-18747400	Enhancers	Stomach Mucosa	stomach
43	chr19:18746000-18746200	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr19:18746000-18746200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
45	chr19:18746000-18746200	Flanking Bivalent TSS/Enh	NHDF-Ad	bronchial
46	chr19:18746000-18746400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
47	chr19:18746000-18746400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr19:18746000-18746400	Enhancers	Brain Cingulate Gyrus	brain
49	chr19:18746000-18746400	Weak transcription	Spleen	Spleen
50	chr19:18746000-18746600	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell

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