Variant report

Variant	nsv911450
Chromosome Location	chr19:22750755-22780817
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:42)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:42 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr19:22778087-22778102	K562	blood:	n/a	n/a
2	CTCF	chr19:22758198-22758247	LNCaP	prostate:	n/a	n/a
3	CTCF	chr19:22759430-22759748	K562	blood:	n/a	n/a
4	CTCF	chr19:22763186-22763360	HUVEC	blood vessel:	n/a	n/a
5	CTCF	chr19:22759491-22759630	K562	blood:	n/a	n/a
6	CTCF	chr19:22759560-22759581	NHEK	skin:	n/a	n/a
7	CTCF	chr19:22763235-22763345	Gliobla	brain:	n/a	n/a
8	CTCF	chr19:22763186-22763357	K562	blood:	n/a	n/a
9	CTCF	chr19:22763208-22763353	MCF-7	breast:	n/a	n/a
10	CTCF	chr19:22763206-22763357	Hela-S3	cervix:	n/a	n/a
11	CTCF	chr19:22763210-22763352	GM12878	blood:	n/a	n/a
12	CTCF	chr19:22763244-22763339	MCF-7	breast:	n/a	n/a
13	CTCF	chr19:22777779-22777882	GM13976	blood:	n/a	n/a
14	CTCF	chr19:22755104-22755132	Spleen_OC	spleen:	n/a	n/a
15	FOSL2	chr19:22756511-22756689	HepG2	liver:	n/a	n/a
16	FOXA2	chr19:22757751-22758186	A549	lung:	n/a	n/a
17	FOXA2	chr19:22763519-22764104	A549	lung:	n/a	n/a
18	HEY1	chr19:22778441-22778620	K562	blood:	n/a	n/a
19	MXI1	chr19:22770741-22770762	K562	blood:	n/a	n/a
20	MYC	chr19:22752447-22752587	GM12878	blood:	n/a	n/a
21	MYC	chr19:22774219-22774233	NB4	blood:	n/a	n/a
22	POLR2A	chr19:22769240-22769435	MCF10A-Er-Src	breast:	n/a	n/a
23	POLR2A	chr19:22757961-22758082	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr19:22765653-22765734	MCF10A-Er-Src	breast:	n/a	n/a
25	POLR2A	chr19:22778482-22778608	GM12891	blood:	n/a	n/a
26	POLR2A	chr19:22770714-22770879	MCF10A-Er-Src	breast:	n/a	n/a
27	POLR2A	chr19:22757286-22757394	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr19:22778459-22778692	Hela-S3	cervix:	n/a	n/a
29	POLR2A	chr19:22751424-22751624	Hela-S3	cervix:	n/a	n/a
30	POLR2A	chr19:22757490-22757652	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr19:22778535-22778731	GM12891	blood:	n/a	n/a
32	POLR2A	chr19:22767541-22767626	MCF10A-Er-Src	breast:	n/a	n/a
33	POLR2A	chr19:22751223-22751555	H1-hESC	embryonic stem cell:	n/a	n/a
34	POLR2A	chr19:22757395-22757723	H1-hESC	embryonic stem cell:	n/a	n/a
35	POLR2A	chr19:22778484-22778619	Hela-S3	cervix:	n/a	n/a
36	POLR2A	chr19:22778487-22778612	H1-hESC	embryonic stem cell:	n/a	n/a
37	POLR2A	chr19:22778409-22778660	GM12892	blood:	n/a	n/a
38	POLR2A	chr19:22751393-22751571	Hela-S3	cervix:	n/a	n/a
39	POLR2A	chr19:22778501-22778588	HepG2	liver:	n/a	n/a
40	STAT3	chr19:22767184-22767480	MCF10A-Er-Src	breast:	n/a	n/a
41	TEAD4	chr19:22757360-22757613	H1-hESC	embryonic stem cell:	n/a	n/a
42	TEAD4	chr19:22757256-22757572	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC024563.1-2	chr19:22778281-22778394	NONHSAT063804
2	lnc-AC024563.1-2	chr19:22778876-22778965	NONHSAT063804
3	lnc-AC024563.1-2	chr19:22778586-22778701	NONHSAT063804

No data

Variant related genes	Relation type
ENSG00000269332	TF binding region
ENSG00000221790	TF binding region
RN7SL860P	TF binding region
ENSG00000271149	TF binding region

Extended variants
information (count: 355 )
Associated
traits (count: 41 )

Variant overlapped rSNPs/rCNVs (count:355 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141387540	chr19:22751016-22751017	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs558763765	chr19:22751020-22751021	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs150792601	chr19:22751026-22751027	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs58192352	chr19:22751028-22751029	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs142577821	chr19:22751052-22751053	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs58044944	chr19:22751093-22751094	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs193164242	chr19:22751097-22751098	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs376525685	chr19:22751107-22751108	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs528022003	chr19:22751122-22751123	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs10426035	chr19:22751160-22751161	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs59376095	chr19:22751161-22751162	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs374490117	chr19:22751170-22751171	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs547843450	chr19:22751175-22751176	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs111549788	chr19:22751187-22751188	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs10401523	chr19:22751203-22751204	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs567672805	chr19:22751229-22751230	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs139867279	chr19:22751230-22751231	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs113641804	chr19:22751253-22751254	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs1216120	chr19:22751256-22751257	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs549938263	chr19:22751279-22751280	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs534122204	chr19:22751318-22751319	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs370641691	chr19:22751325-22751326	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs60899119	chr19:22751326-22751327	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs537617973	chr19:22751349-22751350	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs556635816	chr19:22751350-22751351	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs574619361	chr19:22751356-22751357	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs367557761	chr19:22751362-22751363	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs535548904	chr19:22751363-22751364	Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs553788015	chr19:22751366-22751367	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs371603190	chr19:22751367-22751368	Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs184984359	chr19:22751379-22751380	Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs367640350	chr19:22751403-22751404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs564596077	chr19:22751415-22751416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs10405989	chr19:22751427-22751428	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs543688110	chr19:22751448-22751449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs559300252	chr19:22751449-22751450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs190720330	chr19:22751463-22751464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs375591197	chr19:22751464-22751465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs182906143	chr19:22751466-22751467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs560199723	chr19:22751475-22751476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs527249042	chr19:22751484-22751485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs187965369	chr19:22751499-22751500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs181769538	chr19:22751501-22751502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs567228007	chr19:22751512-22751513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs186190687	chr19:22751518-22751519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs188256996	chr19:22751537-22751538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs554613942	chr19:22751541-22751542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs538120221	chr19:22751545-22751546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs10405663	chr19:22751548-22751549	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs567902721	chr19:22751565-22751566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:41)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
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	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Lung cancer	18438408	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Colorectal cancer	20459617	CNVD
small cell lung cancer	20016488	CNVD
Ductal carcinoma	22052326	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Cancer	20164920	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:22751000-22751400	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr19:22751400-22752800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr19:22752800-22753200	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr19:22753600-22754800	Active TSS	H9 Cell Line	embryonic stem cell
5	chr19:22776600-22777000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
6	chr19:22778200-22779200	Active TSS	Ovary	ovary
7	chr19:22778200-22779400	Active TSS	Breast Myoepithelial Primary Cells	Breast
8	chr19:22778200-22793800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
9	chr19:22778400-22779400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr19:22778800-22779200	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
11	chr19:22779000-22779200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
12	chr19:22779000-22779400	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
13	chr19:22779000-22779400	Enhancers	Right Atrium	heart
14	chr19:22779200-22779400	Flanking Active TSS	Ovary	ovary
15	chr19:22779600-22780000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell

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