Variant report

Variant	rs541430267
Chromosome Location	chr19:18746846-18746847
allele	A/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	USF1	chr19:18746841-18747234	ECC-1	luminal epithelium:	n/a	chr19:18747037-18747046
2	BHLHE40	chr19:18746835-18747478	K562	blood:	n/a	chr19:18747037-18747046
3	MAX	chr19:18746795-18747436	H1-hESC	embryonic stem cell:	n/a	n/a
4	USF1	chr19:18746767-18747469	ECC-1	luminal epithelium:	n/a	chr19:18747037-18747046
5	IRF1	chr19:18746838-18747894	K562	blood:	n/a	chr19:18747368-18747382 chr19:18747099-18747113 chr19:18747757-18747771 chr19:18747582-18747596 chr19:18746931-18746940 chr19:18747197-18747211 chr19:18747633-18747647 chr19:18747387-18747401 chr19:18747078-18747092 chr19:18747040-18747054
6	MAX	chr19:18746761-18748025	MCF-7	breast:	n/a	n/a
7	POLR2A	chr19:18746693-18747017	Raji	blood:	n/a	n/a
8	TCF7L2	chr19:18746802-18747744	HCT-116	colon:	n/a	n/a
9	MAX	chr19:18746784-18747243	H1-hESC	embryonic stem cell:	n/a	n/a
10	SP1	chr19:18746756-18747885	H1-hESC	embryonic stem cell:	n/a	chr19:18747761-18747770 chr19:18747605-18747614 chr19:18747081-18747091 chr19:18747458-18747467 chr19:18747080-18747092 chr19:18747391-18747400 chr19:18747760-18747769 chr19:18747459-18747468 chr19:18747709-18747719 chr19:18747199-18747211 chr19:18747389-18747401 chr19:18747080-18747092 chr19:18747101-18747113 chr19:18747200-18747209 chr19:18747044-18747053 chr19:18747635-18747647 chr19:18747043-18747052 chr19:18747370-18747382 chr19:18747081-18747095 chr19:18747457-18747469 chr19:18747043-18747053 chr19:18747370-18747382 chr19:18747389-18747401 chr19:18747760-18747770 chr19:18747042-18747054 chr19:18747760-18747769 chr19:18747081-18747091 chr19:18747320-18747330 chr19:18747043-18747057 chr19:18747082-18747091 chr19:18747390-18747399 chr19:18747371-18747380 chr19:18747102-18747111 chr19:18747161-18747170 chr19:18747458-18747468 chr19:18747043-18747053 chr19:18747103-18747112 chr19:18747759-18747771 chr19:18747081-18747090 chr19:18747760-18747774 chr19:18747636-18747645 chr19:18747709-18747718 chr19:18747042-18747054 chr19:18747759-18747771 chr19:18747101-18747113 chr19:18747760-18747770 chr19:18747390-18747404 chr19:18747635-18747647 chr19:18747709-18747719 chr19:18747102-18747116 chr19:18747668-18747680 chr19:18747458-18747467 chr19:18747320-18747330 chr19:18747457-18747469 chr19:18747729-18747738 chr19:18747199-18747211 chr19:18747043-18747052 chr19:18747687-18747696
11	HCFC1	chr19:18746577-18748328	Hela-S3	cervix:	n/a	n/a
12	TFAP2C	chr19:18746763-18747152	Hela-S3	cervix:	n/a	chr19:18746998-18747013
13	TCF12	chr19:18746846-18747121	H1-hESC	embryonic stem cell:	n/a	n/a
14	MAX	chr19:18746789-18747486	ECC-1	luminal epithelium:	n/a	n/a
15	TCF12	chr19:18746777-18747338	ECC-1	luminal epithelium:	n/a	n/a
16	USF1	chr19:18746840-18747223	H1-hESC	embryonic stem cell:	n/a	chr19:18747037-18747046
17	MAX	chr19:18746753-18747276	ECC-1	luminal epithelium:	n/a	n/a
18	MAX	chr19:18746817-18747195	K562	blood:	n/a	n/a
19	MAX	chr19:18746843-18747088	K562	blood:	n/a	n/a
20	USF1	chr19:18746794-18747192	K562	blood:	n/a	chr19:18747037-18747046
21	CREB1	chr19:18746769-18748180	HepG2	liver:	n/a	n/a
22	TCF7L2	chr19:18746845-18747628	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:18746749..18750617-chr19:18752436..18756057,4	K562	blood:
2	chr19:18738729..18743227-chr19:18745299..18749316,6	K562	blood:
3	chr19:18699138..18701400-chr19:18744196..18746923,2	K562	blood:
4	chr19:18745231..18747115-chr19:18793241..18795774,2	MCF-7	breast:
5	chr19:18703681..18707981-chr19:18746387..18750076,5	K562	blood:
6	chr19:18716807..18719687-chr19:18745756..18748857,3	K562	blood:
7	chr19:18681409..18685264-chr19:18744559..18747664,3	MCF-7	breast:
8	chr19:18704018..18706684-chr19:18745467..18747163,2	MCF-7	breast:
9	chr19:18681104..18684544-chr19:18745683..18749906,4	K562	blood:
10	chr19:18698512..18700358-chr19:18745222..18750244,4	K562	blood:
11	chr19:18698708..18701515-chr19:18746316..18749182,4	MCF-7	breast:
12	chr19:18740493..18743219-chr19:18745834..18748100,2	K562	blood:
13	chr19:18717575..18719687-chr19:18746806..18748857,2	K562	blood:
14	chr19:18744967..18748846-chr19:18753096..18757449,4	MCF-7	breast:
15	chr19:18744815..18748522-chr19:18792822..18794594,3	K562	blood:

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

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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	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
10	esv12495	chr19:18746535-18747892	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer 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:90 , 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	chr19:18740800-18747200	Weak transcription	Brain Hippocampus Middle	brain
4	chr19:18740800-18747200	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr19:18741200-18747200	Weak transcription	Adipose Nuclei	Adipose
6	chr19:18745600-18747000	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr19:18745600-18747200	Enhancers	Primary T cells fromperipheralblood	blood
8	chr19:18745600-18747200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr19:18745600-18747200	Enhancers	Rectal Mucosa Donor 31	rectum
10	chr19:18745600-18747200	Enhancers	NHEK	skin
11	chr19:18745600-18747800	Enhancers	Fetal Brain Male	brain
12	chr19:18745800-18747200	Enhancers	Primary T cells from cord blood	blood
13	chr19:18745800-18747200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr19:18745800-18747200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr19:18745800-18747400	Enhancers	Stomach Mucosa	stomach
16	chr19:18746000-18747000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr19:18746000-18747000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr19:18746000-18747000	Enhancers	Primary T helper naive cells from peripheral blood	blood
19	chr19:18746000-18747200	Enhancers	Primary B cells from peripheral blood	blood
20	chr19:18746000-18747200	Enhancers	Primary T killer memory cells from peripheral blood	blood
21	chr19:18746000-18747200	Enhancers	Fetal Intestine Small	intestine
22	chr19:18746000-18747200	Weak transcription	Left Ventricle	heart
23	chr19:18746000-18747200	Weak transcription	Lung	lung
24	chr19:18746200-18747000	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr19:18746200-18747000	Weak transcription	Fetal Kidney	kidney
26	chr19:18746200-18747200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr19:18746200-18747200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
28	chr19:18746200-18747200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr19:18746200-18747200	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr19:18746200-18747200	Enhancers	Fetal Thymus	thymus
31	chr19:18746200-18747200	Enhancers	Pancreas	Pancrea
32	chr19:18746200-18747200	Enhancers	Small Intestine	intestine
33	chr19:18746200-18747200	Enhancers	NHDF-Ad	bronchial
34	chr19:18746200-18749000	Enhancers	Fetal Heart	heart
35	chr19:18746400-18747000	Enhancers	H1 Cell Line	embryonic stem cell
36	chr19:18746400-18747200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr19:18746400-18747200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr19:18746400-18747200	Weak transcription	Brain Cingulate Gyrus	brain
39	chr19:18746400-18747200	Enhancers	Fetal Intestine Large	intestine
40	chr19:18746400-18747200	Enhancers	Spleen	Spleen
41	chr19:18746600-18747000	Enhancers	H9 Cell Line	embryonic stem cell
42	chr19:18746600-18747000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr19:18746600-18747000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr19:18746600-18747000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr19:18746600-18747000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr19:18746600-18747000	Enhancers	Brain Substantia Nigra	brain
47	chr19:18746600-18747000	Weak transcription	Esophagus	oesophagus
48	chr19:18746600-18747000	Flanking Active TSS	Fetal Brain Female	brain
49	chr19:18746600-18747000	Weak transcription	Right Atrium	heart
50	chr19:18746600-18747200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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