Variant report

Variant	nsv911534
Chromosome Location	chr19:27861995-28144500
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:676)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:676 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr19:27941380-27941399	K562	blood:	n/a	n/a
2	BACH1	chr19:27907624-27907648	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	chr19:27904673-27904894	GM12878	blood:	n/a	n/a
6	BATF	chr19:27880551-27880779	GM12878	blood:	n/a	n/a
7	BATF	chr19:27902659-27902917	GM12878	blood:	n/a	n/a
8	BATF	chr19:27902669-27902979	GM12878	blood:	n/a	n/a
9	BATF	chr19:27897153-27897445	GM12878	blood:	n/a	n/a
10	BATF	chr19:27899029-27899326	GM12878	blood:	n/a	n/a
11	BATF	chr19:27865050-27865350	GM12878	blood:	n/a	n/a
12	BATF	chr19:27868294-27868587	GM12878	blood:	n/a	n/a
13	BATF	chr19:27899139-27899310	GM12878	blood:	n/a	n/a
14	BATF	chr19:27897158-27897472	GM12878	blood:	n/a	n/a
15	BCL11A	chr19:27899071-27899250	GM12878	blood:	n/a	n/a
16	BCL11A	chr19:27868266-27868675	GM12878	blood:	n/a	n/a
17	BCL11A	chr19:27868323-27868579	GM12878	blood:	n/a	n/a
18	BCL11A	chr19:27902643-27903061	GM12878	blood:	n/a	n/a
19	BCL11A	chr19:27897169-27897439	GM12878	blood:	n/a	n/a
20	BCL11A	chr19:27902664-27902911	GM12878	blood:	n/a	n/a
21	BCL11A	chr19:27897065-27897511	GM12878	blood:	n/a	n/a
22	BHLHE40	chr19:27902737-27903075	HepG2	liver:	n/a	n/a
23	BHLHE40	chr19:27888282-27888307	K562	blood:	n/a	n/a
24	BHLHE40	chr19:27941379-27941405	K562	blood:	n/a	n/a
25	BHLHE40	chr19:27897163-27897361	HepG2	liver:	n/a	n/a
26	BHLHE40	chr19:27895230-27895399	HepG2	liver:	n/a	n/a
27	BHLHE40	chr19:27882343-27882544	HepG2	liver:	n/a	n/a
28	BHLHE40	chr19:28045061-28045262	K562	blood:	n/a	n/a
29	BHLHE40	chr19:27868329-27868571	HepG2	liver:	n/a	n/a
30	BHLHE40	chr19:27899027-27899261	HepG2	liver:	n/a	n/a
31	CEBPB	chr19:28094179-28094207	A549	lung:	n/a	n/a
32	CEBPB	chr19:28107310-28107327	A549	lung:	n/a	n/a
33	CEBPB	chr19:28045063-28045091	K562	blood:	n/a	n/a
34	CEBPD	chr19:27890095-27890434	K562	blood:	n/a	n/a
35	CEBPD	chr19:27966921-27967304	K562	blood:	n/a	n/a
36	CHD2	chr19:27907624-27907648	K562	blood:	n/a	n/a
37	CHD2	chr19:27888282-27888307	K562	blood:	n/a	n/a
38	CHD2	chr19:28045063-28045088	K562	blood:	n/a	n/a
39	CHD2	chr19:27941378-27941403	K562	blood:	n/a	n/a
40	CTCF	chr19:27889969-27890360	K562	blood:	n/a	n/a
41	CTCF	chr19:27883818-27883830	GM10266	blood:	n/a	n/a
42	CTCF	chr19:27941379-27941404	K562	blood:	n/a	n/a
43	CTCF	chr19:28136419-28136561	H1-hESC	embryonic stem cell:	n/a	n/a
44	CTCF	chr19:28089885-28090008	Lung_OC	lung:	n/a	n/a
45	CTCF	chr19:28136540-28136690	HEK293	kidney:	n/a	n/a
46	CTCF	chr19:28136460-28136610	WERI-Rb-1	eye:	n/a	n/a
47	CTCF	chr19:28136267-28136730	K562	blood:	n/a	n/a
48	CTCF	chr19:27883120-27883270	NHLF	lung:	n/a	n/a
49	CTCF	chr19:27883781-27883826	LNCaP	prostate:	n/a	n/a
50	CTCF	chr19:28093590-28093638	ProgFib	skin:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:27920492..27922596-chr19:29749954..29752655,2	K562	blood:
2	chr19:27961286..27961807-chr8:46850621..46851139,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000267696	TF binding region

Extended variants
information (count: 16724 )
Associated
traits (count: 39 )

Variant overlapped rSNPs/rCNVs (count:16724 , 50 per page) page: 1 2 3 4 5 6 7 ... 335

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs436162	chr19:27861995-27861996	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs62108475	chr19:27862021-27862022	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs76666877	chr19:27862044-27862045	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs530666967	chr19:27862071-27862072	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs548760698	chr19:27862088-27862089	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs560884486	chr19:27862089-27862090	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs528367733	chr19:27862099-27862100	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs546550940	chr19:27862146-27862147	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs62108476	chr19:27862158-27862159	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs539410972	chr19:27862169-27862170	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs551908842	chr19:27862179-27862180	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs570154331	chr19:27862183-27862184	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs77463918	chr19:27862194-27862195	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs537676057	chr19:27862199-27862200	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs542083443	chr19:27864614-27864615	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs554364287	chr19:27864618-27864619	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs370103988	chr19:27864624-27864625	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs372597763	chr19:27864626-27864627	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs201873910	chr19:27864627-27864628	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs572515828	chr19:27864634-27864635	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs111608979	chr19:27864639-27864640	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs546530012	chr19:27864640-27864641	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs564725784	chr19:27864644-27864645	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs74217101	chr19:27864646-27864647	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs62108486	chr19:27864651-27864652	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs531382266	chr19:27864655-27864656	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs543434546	chr19:27864661-27864662	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs62108487	chr19:27864666-27864667	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs374510518	chr19:27864667-27864668	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs547141611	chr19:27864670-27864671	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs2873222	chr19:27864680-27864681	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs377228130	chr19:27864681-27864682	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs559508235	chr19:27864686-27864687	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs62108488	chr19:27864690-27864691	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs62108489	chr19:27864694-27864695	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs71233697	chr19:27864715-27864716	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs551307793	chr19:27864716-27864717	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs3968467	chr19:27864717-27864718	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs55756824	chr19:27864747-27864748	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs369748851	chr19:27864755-27864756	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs537881210	chr19:27864758-27864759	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs549739092	chr19:27864762-27864763	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs374090200	chr19:27864763-27864764	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs4447558	chr19:27864784-27864785	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs77955320	chr19:27864785-27864786	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs113118587	chr19:27864796-27864797	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs2316593	chr19:27864798-27864799	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs78807401	chr19:27864806-27864807	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs74889915	chr19:27864807-27864808	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs568332261	chr19:27864811-27864812	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:358 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:27822600-27862000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
2	chr19:27827400-27862000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr19:27832600-27862000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
4	chr19:27849000-27862000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
5	chr19:27854400-27862000	ZNF genes & repeats	Liver	Liver
6	chr19:27861200-27862200	ZNF genes & repeats	Adipose Nuclei	Adipose
7	chr19:27864600-27890200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
8	chr19:27864600-27890200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
9	chr19:27864800-27865600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr19:27864800-27865600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
11	chr19:27865000-27865200	ZNF genes & repeats	HSMMtube	muscle
12	chr19:27865000-27865600	ZNF genes & repeats	Adipose Nuclei	Adipose
13	chr19:27865000-27865600	ZNF genes & repeats	Fetal Brain Male	brain
14	chr19:27867000-27892000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr19:27867200-27886200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
16	chr19:27868600-27869400	Active TSS	Aorta	Aorta
17	chr19:27869200-27869400	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr19:27869600-27870600	ZNF genes & repeats	Primary T cells from cord blood	blood
19	chr19:27869600-27870800	ZNF genes & repeats	HepG2	liver
20	chr19:27870000-27870600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
21	chr19:27870000-27870600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
22	chr19:27870200-27870400	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr19:27870200-27870600	ZNF genes & repeats	HUVEC	blood vessel
24	chr19:27870200-27870600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
25	chr19:27870400-27870600	Flanking Bivalent TSS/Enh	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr19:27873600-27878000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
27	chr19:27873600-27882000	ZNF genes & repeats	Liver	Liver
28	chr19:27873800-27874600	Weak transcription	Aorta	Aorta
29	chr19:27874000-27874600	ZNF genes & repeats	Psoas Muscle	Psoas
30	chr19:27874200-27874600	ZNF genes & repeats	Adipose Nuclei	Adipose
31	chr19:27874400-27874800	ZNF genes & repeats	HepG2	liver
32	chr19:27874600-27875200	ZNF genes & repeats	Fetal Heart	heart
33	chr19:27874600-27875600	Active TSS	Aorta	Aorta
34	chr19:27875600-27878400	Weak transcription	Aorta	Aorta
35	chr19:27876400-27879000	ZNF genes & repeats	Primary T cells from cord blood	blood
36	chr19:27877400-27880000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
37	chr19:27877600-27884600	ZNF genes & repeats	Dnd41	blood
38	chr19:27878400-27879200	Active TSS	Aorta	Aorta
39	chr19:27878400-27881000	ZNF genes & repeats	HUVEC	blood vessel
40	chr19:27879200-27879800	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
41	chr19:27879400-27879800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
42	chr19:27880600-27881600	ZNF genes & repeats	Adipose Nuclei	Adipose
43	chr19:27881000-27881400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr19:27882400-27884800	ZNF genes & repeats	Liver	Liver
45	chr19:27883000-27883400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr19:27883000-27883600	ZNF genes & repeats	Gastric	stomach
47	chr19:27883000-27885400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
48	chr19:27883200-27884200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
49	chr19:27883400-27909000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
50	chr19:27884000-27885000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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