Variant report

Variant	nsv911522
Chromosome Location	chr19:27794208-28144500
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1071)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1071 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr19:27907624-27907648	K562	blood:	n/a	n/a
2	BACH1	chr19:27941380-27941399	K562	blood:	n/a	n/a
3	BACH1	chr19:27888281-27888308	K562	blood:	n/a	n/a
4	BACH1	chr19:28105728-28106101	H1-hESC	embryonic stem cell:	n/a	n/a
5	BATF	chr19:27880551-27880779	GM12878	blood:	n/a	n/a
6	BATF	chr19:27821568-27821883	GM12878	blood:	n/a	n/a
7	BATF	chr19:27860263-27860475	GM12878	blood:	n/a	n/a
8	BATF	chr19:27897158-27897472	GM12878	blood:	n/a	n/a
9	BATF	chr19:27865050-27865350	GM12878	blood:	n/a	n/a
10	BATF	chr19:27899029-27899326	GM12878	blood:	n/a	n/a
11	BATF	chr19:27868294-27868587	GM12878	blood:	n/a	n/a
12	BATF	chr19:27897153-27897445	GM12878	blood:	n/a	n/a
13	BATF	chr19:27814882-27815052	GM12878	blood:	n/a	n/a
14	BATF	chr19:27902659-27902917	GM12878	blood:	n/a	n/a
15	BATF	chr19:27804588-27804797	GM12878	blood:	n/a	n/a
16	BATF	chr19:27806827-27807070	GM12878	blood:	n/a	n/a
17	BATF	chr19:27902669-27902979	GM12878	blood:	n/a	n/a
18	BATF	chr19:27904673-27904894	GM12878	blood:	n/a	n/a
19	BATF	chr19:27802596-27802885	GM12878	blood:	n/a	n/a
20	BATF	chr19:27899139-27899310	GM12878	blood:	n/a	n/a
21	BATF	chr19:27793473-27794218	GM12878	blood:	n/a	n/a
22	BCL11A	chr19:27868266-27868675	GM12878	blood:	n/a	n/a
23	BCL11A	chr19:27899071-27899250	GM12878	blood:	n/a	n/a
24	BCL11A	chr19:27806754-27807054	GM12878	blood:	n/a	n/a
25	BCL11A	chr19:27897169-27897439	GM12878	blood:	n/a	n/a
26	BCL11A	chr19:27797694-27797891	GM12878	blood:	n/a	n/a
27	BCL11A	chr19:27897065-27897511	GM12878	blood:	n/a	n/a
28	BCL11A	chr19:27902643-27903061	GM12878	blood:	n/a	n/a
29	BCL11A	chr19:27802586-27802917	GM12878	blood:	n/a	n/a
30	BCL11A	chr19:27868323-27868579	GM12878	blood:	n/a	n/a
31	BCL11A	chr19:27902664-27902911	GM12878	blood:	n/a	n/a
32	BCL11A	chr19:27858205-27858422	GM12878	blood:	n/a	n/a
33	BHLHE40	chr19:27824316-27824607	HepG2	liver:	n/a	n/a
34	BHLHE40	chr19:27868329-27868571	HepG2	liver:	n/a	n/a
35	BHLHE40	chr19:27899027-27899261	HepG2	liver:	n/a	n/a
36	BHLHE40	chr19:27882343-27882544	HepG2	liver:	n/a	n/a
37	BHLHE40	chr19:27895230-27895399	HepG2	liver:	n/a	n/a
38	BHLHE40	chr19:27821601-27821834	HepG2	liver:	n/a	n/a
39	BHLHE40	chr19:27888282-27888307	K562	blood:	n/a	n/a
40	BHLHE40	chr19:27941379-27941405	K562	blood:	n/a	n/a
41	BHLHE40	chr19:27902737-27903075	HepG2	liver:	n/a	n/a
42	BHLHE40	chr19:27897163-27897361	HepG2	liver:	n/a	n/a
43	BHLHE40	chr19:27812791-27812976	HepG2	liver:	n/a	n/a
44	BHLHE40	chr19:28045061-28045262	K562	blood:	n/a	n/a
45	BHLHE40	chr19:27860251-27860624	HepG2	liver:	n/a	n/a
46	BHLHE40	chr19:27835498-27835732	HepG2	liver:	n/a	n/a
47	BRCA1	chr19:27842054-27842424	GM12878	blood:	n/a	n/a
48	BRCA1	chr19:27842225-27842254	Hela-S3	cervix:	n/a	n/a
49	BRCA1	chr19:27824737-27824812	GM12878	blood:	n/a	n/a
50	CEBPB	chr19:27840439-27840576	A549	lung:	n/a	chr19:27840514-27840525

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:27920492..27922596-chr19:29749954..29752655,2	K562	blood:
2	chr19:27961286..27961807-chr8:46850621..46851139,2	MCF-7	breast:
3	chr19:27812380..27812881-chr7:58041614..58042119,2	MCF-7	breast:
4	chr18:18518469..18519030-chr19:27812381..27812905,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000267696	TF binding region

Extended variants
information (count: 24740 )
Associated
traits (count: 39 )

Variant overlapped rSNPs/rCNVs (count:24740 , 50 per page) page: 1 2 3 4 5 6 7 ... 495

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs55971910	chr19:27794208-27794209	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs200577709	chr19:27794230-27794231	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs150255487	chr19:27794236-27794237	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs533392495	chr19:27794238-27794239	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs143865870	chr19:27794245-27794246	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs553737163	chr19:27794251-27794252	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs572251376	chr19:27794253-27794254	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs79790448	chr19:27794258-27794259	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs377669628	chr19:27794263-27794264	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs539523853	chr19:27794269-27794270	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs558101899	chr19:27794282-27794283	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs111794450	chr19:27794287-27794288	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs576544430	chr19:27794290-27794291	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs374212205	chr19:27794291-27794292	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs139176445	chr19:27794292-27794293	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs141766181	chr19:27794297-27794298	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs111461259	chr19:27794309-27794310	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs543781941	chr19:27794310-27794311	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs75571121	chr19:27794311-27794312	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs562360393	chr19:27794314-27794315	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs75739079	chr19:27794317-27794318	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs146237985	chr19:27794326-27794327	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs200966629	chr19:27794329-27794330	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs76780650	chr19:27794332-27794333	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs573689091	chr19:27794335-27794336	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs77597847	chr19:27794336-27794337	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs200030000	chr19:27794342-27794343	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs370930038	chr19:27794351-27794352	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs559389117	chr19:27794360-27794361	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs533089873	chr19:27794361-27794362	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs551487505	chr19:27794367-27794368	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs200527225	chr19:27794368-27794369	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs149657100	chr19:27794377-27794378	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs113180477	chr19:27794381-27794382	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs147719414	chr19:27794388-27794389	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs56152174	chr19:27794390-27794391	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs530706361	chr19:27794397-27794398	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs146766096	chr19:27794406-27794407	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs547247780	chr19:27794411-27794412	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs549014536	chr19:27794416-27794417	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs567589170	chr19:27794421-27794422	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs143086157	chr19:27794432-27794433	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs534599468	chr19:27794434-27794435	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs149817939	chr19:27794439-27794440	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs141169293	chr19:27794440-27794441	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs149270947	chr19:27794452-27794453	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs141400684	chr19:27794457-27794458	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs141001083	chr19:27794458-27794459	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs150010435	chr19:27794469-27794470	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs529266474	chr19:27794475-27794476	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:39)

Disease	PMID	Source
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
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
Lung cancer	18438408	CNVD
Congenital nephrotic syndrome	18421352	CNVD
Astrocytoma	17934521	CNVD
Leukemia	17361228	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:535 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:27788400-27795200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
2	chr19:27788600-27806600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
3	chr19:27788800-27808600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
4	chr19:27789000-27795400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
5	chr19:27792800-27806800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr19:27793400-27794600	ZNF genes & repeats	HUVEC	blood vessel
7	chr19:27794000-27798200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr19:27794000-27798200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr19:27797400-27798600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
10	chr19:27797400-27803000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
11	chr19:27798000-27798400	ZNF genes & repeats	HUVEC	blood vessel
12	chr19:27798200-27798400	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr19:27798200-27798600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr19:27798200-27798600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
15	chr19:27798200-27798600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
16	chr19:27798400-27798600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
17	chr19:27798600-27802000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr19:27799600-27800200	ZNF genes & repeats	Adipose Nuclei	Adipose
19	chr19:27800000-27800200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
20	chr19:27802000-27803000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr19:27802200-27803200	ZNF genes & repeats	Liver	Liver
22	chr19:27802200-27805600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
23	chr19:27802600-27803000	ZNF genes & repeats	HUVEC	blood vessel
24	chr19:27804600-27804800	ZNF genes & repeats	Aorta	Aorta
25	chr19:27804600-27804800	ZNF genes & repeats	Placenta Amnion	Placenta Amnion
26	chr19:27804600-27805000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
27	chr19:27804600-27806800	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr19:27804800-27805000	Weak transcription	Aorta	Aorta
29	chr19:27804800-27805000	ZNF genes & repeats	Psoas Muscle	Psoas
30	chr19:27808200-27808600	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
31	chr19:27808200-27808600	Active TSS	Aorta	Aorta
32	chr19:27808200-27808600	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
33	chr19:27808200-27809000	ZNF genes & repeats	HUVEC	blood vessel
34	chr19:27808600-27812800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr19:27809000-27812800	Weak transcription	HUVEC	blood vessel
36	chr19:27812000-27813000	ZNF genes & repeats	Adipose Nuclei	Adipose
37	chr19:27812400-27814800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
38	chr19:27812400-27815200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
39	chr19:27812600-27813200	ZNF genes & repeats	HepG2	liver
40	chr19:27812600-27813400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
41	chr19:27812600-27814800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
42	chr19:27812800-27813000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
43	chr19:27812800-27813000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr19:27812800-27813000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
45	chr19:27812800-27813000	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr19:27812800-27813000	ZNF genes & repeats	Primary T cells from cord blood	blood
47	chr19:27812800-27813000	Flanking Bivalent TSS/Enh	Primary T helper naive cells from peripheral blood	blood
48	chr19:27812800-27813000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
49	chr19:27812800-27813000	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
50	chr19:27812800-27813000	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--

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