Variant report

Variant	esv2758492
Chromosome Location	chr19:24350565-24557363
allele	n/a
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	ATF1	chr19:24537676-24537697	K562	blood:	n/a	n/a
2	BACH1	chr19:24400119-24400496	K562	blood:	n/a	n/a
3	BACH1	chr19:24390853-24391219	K562	blood:	n/a	n/a
4	BACH1	chr19:24552889-24553266	H1-hESC	embryonic stem cell:	n/a	n/a
5	BATF	chr19:24474207-24474368	GM12878	blood:	n/a	n/a
6	BATF	chr19:24474206-24474374	GM12878	blood:	n/a	n/a
7	BCL11A	chr19:24474135-24474384	GM12878	blood:	n/a	n/a
8	BCL11A	chr19:24474214-24474366	GM12878	blood:	n/a	n/a
9	BHLHE40	chr19:24390853-24391220	K562	blood:	n/a	n/a
10	BHLHE40	chr19:24400205-24400377	HepG2	liver:	n/a	n/a
11	BHLHE40	chr19:24443344-24443416	GM12878	blood:	n/a	n/a
12	BHLHE40	chr19:24397872-24397882	K562	blood:	n/a	n/a
13	BHLHE40	chr19:24400119-24400495	K562	blood:	n/a	n/a
14	BRCA1	chr19:24397698-24397890	Hela-S3	cervix:	n/a	n/a
15	BRCA1	chr19:24390859-24391172	GM12878	blood:	n/a	n/a
16	BRCA1	chr19:24397746-24398044	GM12878	blood:	n/a	n/a
17	CEBPB	chr19:24463829-24463915	A549	lung:	n/a	n/a
18	CEBPB	chr19:24371886-24371892	A549	lung:	n/a	n/a
19	CEBPB	chr19:24546893-24547184	A549	lung:	n/a	n/a
20	CEBPB	chr19:24372502-24372751	Hela-S3	cervix:	n/a	n/a
21	CEBPB	chr19:24365606-24365797	HepG2	liver:	n/a	chr19:24365638-24365649
22	CEBPB	chr19:24549689-24550027	A549	lung:	n/a	chr19:24549868-24549879
23	CEBPB	chr19:24375573-24375955	IMR90	lung:	n/a	chr19:24375690-24375701
24	CEBPB	chr19:24375584-24376150	HepG2	liver:	n/a	chr19:24375690-24375701
25	CEBPB	chr19:24365491-24365804	A549	lung:	n/a	chr19:24365638-24365649
26	CEBPB	chr19:24367168-24367446	IMR90	lung:	n/a	n/a
27	CEBPB	chr19:24372849-24372997	IMR90	lung:	n/a	n/a
28	CEBPB	chr19:24540093-24540395	HepG2	liver:	n/a	chr19:24540235-24540246
29	CEBPB	chr19:24364763-24364998	HepG2	liver:	n/a	n/a
30	CEBPB	chr19:24368573-24368768	A549	lung:	n/a	n/a
31	CEBPB	chr19:24378203-24378471	HepG2	liver:	n/a	chr19:24378316-24378327 chr19:24378318-24378329
32	CEBPB	chr19:24375510-24376151	A549	lung:	n/a	chr19:24375690-24375701
33	CEBPB	chr19:24546871-24547146	IMR90	lung:	n/a	n/a
34	CEBPB	chr19:24548372-24548676	HepG2	liver:	n/a	chr19:24548530-24548541
35	CEBPB	chr19:24375530-24375933	MCF-7	breast:	n/a	chr19:24375690-24375701
36	CEBPB	chr19:24549680-24549833	H1-hESC	embryonic stem cell:	n/a	n/a
37	CEBPB	chr19:24541988-24542011	H1-hESC	embryonic stem cell:	n/a	n/a
38	CEBPB	chr19:24378188-24378497	A549	lung:	n/a	chr19:24378316-24378327 chr19:24378318-24378329
39	CEBPB	chr19:24549697-24550029	IMR90	lung:	n/a	chr19:24549868-24549879
40	CEBPB	chr19:24367088-24367395	A549	lung:	n/a	n/a
41	CEBPB	chr19:24548356-24548682	A549	lung:	n/a	chr19:24548530-24548541
42	CEBPB	chr19:24540113-24540409	A549	lung:	n/a	chr19:24540235-24540246
43	CEBPB	chr19:24367145-24367873	HepG2	liver:	n/a	n/a
44	CEBPB	chr19:24364678-24365025	A549	lung:	n/a	n/a
45	CEBPB	chr19:24549699-24550053	HepG2	liver:	n/a	chr19:24549868-24549879
46	CEBPB	chr19:24378262-24378393	K562	blood:	n/a	chr19:24378316-24378327 chr19:24378318-24378329
47	CEBPB	chr19:24367671-24368348	A549	lung:	n/a	n/a
48	CEBPB	chr19:24486569-24486592	IMR90	lung:	n/a	n/a
49	CEBPB	chr19:24372590-24372792	K562	blood:	n/a	n/a
50	CEBPB	chr19:24372510-24373055	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:121483249..121485033-chr19:24456855..24458356,4	K562	blood:
2	chr1:121483249..121485033-chr19:24456836..24458356,4	K562	blood:

Variant related genes	Relation type
HAVCR1P1	TF binding region

Extended variants
information (count: 11302 )
Associated
traits (count: 42 )

Variant overlapped rSNPs/rCNVs (count:11302 , 50 per page) page: 1 2 3 4 5 6 7 ... 227

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565683086	chr19:24350569-24350570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs186207080	chr19:24350582-24350583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs118125771	chr19:24350597-24350598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs150278384	chr19:24350614-24350615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs138638623	chr19:24350616-24350617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs142718894	chr19:24350670-24350671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs532397220	chr19:24350693-24350694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs139559566	chr19:24350700-24350701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs559554658	chr19:24350710-24350711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs191200726	chr19:24350713-24350714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs369143722	chr19:24350714-24350715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs144062921	chr19:24350769-24350770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs564079984	chr19:24350787-24350788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs531497774	chr19:24350816-24350817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs549736013	chr19:24350829-24350830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs112239502	chr19:24350832-24350833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs180846570	chr19:24350849-24350850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs142213595	chr19:24350923-24350924	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs146768586	chr19:24350925-24350926	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs113028826	chr19:24350928-24350929	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs185901325	chr19:24350933-24350934	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs557779521	chr19:24350936-24350937	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs191226453	chr19:24350982-24350983	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs182557269	chr19:24350990-24350991	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs534984291	chr19:24350991-24350992	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs555719043	chr19:24350992-24350993	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs574194088	chr19:24351021-24351022	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs187589081	chr19:24351048-24351049	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs553441605	chr19:24351081-24351082	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs375437715	chr19:24351113-24351114	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs190547746	chr19:24351123-24351124	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs183520280	chr19:24351130-24351131	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs575963982	chr19:24351131-24351132	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs543713809	chr19:24351191-24351192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs188738273	chr19:24351198-24351199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs529084984	chr19:24351250-24351251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs192803099	chr19:24351255-24351256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs559533993	chr19:24351268-24351269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs184351546	chr19:24351276-24351277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs551426525	chr19:24351280-24351281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs547370564	chr19:24351285-24351286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs187705802	chr19:24351299-24351300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs536609480	chr19:24351300-24351301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs571037997	chr19:24351305-24351306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs377434019	chr19:24351334-24351335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs535261402	chr19:24351346-24351347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs370132282	chr19:24351347-24351348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs577741388	chr19:24351353-24351354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs191740562	chr19:24351370-24351371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs73524194	chr19:24351387-24351388	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:42)

Disease	PMID	Source
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Prostate cancer	16573809	CNVD
Chordoma	18071362	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
ovarian endometriomas	16273235	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Cervical cancer	21063398	CNVD
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	CNVD
Ovarian cancer	21720365	CNVD
Cancer	20164919	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Colorectal cancer	20459617	CNVD
Ductal carcinoma	22052326	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18194544	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Autism	19287141	CNVD
early-passage human iPS cells	21368824	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:309 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:24337000-24359200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr19:24339400-24351200	Weak transcription	HSMM	muscle
3	chr19:24344400-24354800	Weak transcription	Dnd41	blood
4	chr19:24346000-24357200	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr19:24346400-24357200	Weak transcription	Left Ventricle	heart
6	chr19:24347800-24357000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr19:24349400-24352400	Weak transcription	Ovary	ovary
8	chr19:24350000-24354000	Weak transcription	HSMMtube	muscle
9	chr19:24350200-24353800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr19:24351400-24355200	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr19:24352200-24355000	ZNF genes & repeats	Fetal Brain Female	brain
12	chr19:24352400-24354000	Strong transcription	Ovary	ovary
13	chr19:24352800-24355800	ZNF genes & repeats	Brain Germinal Matrix	brain
14	chr19:24353600-24354800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr19:24353800-24354200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr19:24354000-24355000	ZNF genes & repeats	Stomach Smooth Muscle	stomach
17	chr19:24354000-24356800	Weak transcription	Ovary	ovary
18	chr19:24354200-24356600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr19:24356600-24356800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr19:24356800-24357400	ZNF genes & repeats	Ovary	ovary
21	chr19:24357400-24360200	Weak transcription	Ovary	ovary
22	chr19:24360200-24361000	ZNF genes & repeats	Ovary	ovary
23	chr19:24360400-24361400	ZNF genes & repeats	Fetal Brain Female	brain
24	chr19:24360400-24361600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr19:24360400-24362200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
26	chr19:24360400-24363600	ZNF genes & repeats	Liver	Liver
27	chr19:24360600-24361800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr19:24360600-24363400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
29	chr19:24360600-24364400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
30	chr19:24361400-24362600	ZNF genes & repeats	Fetal Lung	lung
31	chr19:24362400-24364400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
32	chr19:24363000-24364000	ZNF genes & repeats	Adipose Nuclei	Adipose
33	chr19:24364000-24365600	Enhancers	Primary neutrophils fromperipheralblood	blood
34	chr19:24365600-24365800	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
35	chr19:24379600-24380600	ZNF genes & repeats	Adipose Nuclei	Adipose
36	chr19:24385400-24389600	ZNF genes & repeats	Liver	Liver
37	chr19:24387200-24389400	ZNF genes & repeats	Adipose Nuclei	Adipose
38	chr19:24387400-24389600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
39	chr19:24390200-24394800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
40	chr19:24390600-24391800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr19:24390800-24391200	ZNF genes & repeats	HUVEC	blood vessel
42	chr19:24390800-24393800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
43	chr19:24390800-24398400	ZNF genes & repeats	Adipose Nuclei	Adipose
44	chr19:24390800-24400400	ZNF genes & repeats	Liver	Liver
45	chr19:24393200-24394000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
46	chr19:24394200-24401200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr19:24397400-24403000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
48	chr19:24397600-24397800	Enhancers	Rectal Smooth Muscle	rectum
49	chr19:24397800-24400200	Weak transcription	Rectal Smooth Muscle	rectum
50	chr19:24398000-24403000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell

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