Variant report

Variant	nsv174
Chromosome Location	chr19:36831719-36865415
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:37)
CpG islands
(count:183)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:37 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr19:36851859-36851866	HepG2	liver:	n/a	n/a
2	CEBPZ	chr19:36851827-36851872	HepG2	liver:	n/a	n/a
3	CTCF	chr19:36836160-36836310	A549	lung:	n/a	n/a
4	CTCF	chr19:36840481-36840536	GM13976	blood:	n/a	n/a
5	CTCF	chr19:36841200-36841350	GM12874	blood:	n/a	n/a
6	CTCF	chr19:36840494-36840549	MCF-7	breast:	n/a	n/a
7	CTCF	chr19:36861380-36861530	GM12868	blood:	n/a	n/a
8	FOXA1	chr19:36854793-36855090	HepG2	liver:	n/a	chr19:36854957-36854969
9	FOXA1	chr19:36854739-36855119	HepG2	liver:	n/a	chr19:36854957-36854969
10	FOXA1	chr19:36854770-36855134	HepG2	liver:	n/a	chr19:36854957-36854969
11	FOXA2	chr19:36854794-36855020	HepG2	liver:	n/a	chr19:36854957-36854969
12	GATA3	chr19:36831026-36832325	A549	lung:	n/a	n/a
13	JUND	chr19:36836858-36837081	HepG2	liver:	n/a	chr19:36836922-36836933
14	KAP1	chr19:36831137-36832362	HEK293	kidney:	n/a	n/a
15	MAFF	chr19:36847519-36847769	HepG2	liver:	n/a	chr19:36847657-36847675
16	MYC	chr19:36835528-36835550	MCF-7	breast:	n/a	n/a
17	NRF1	chr19:36858774-36858893	K562	blood:	n/a	n/a
18	POLR2A	chr19:36861389-36861591	MCF-7	breast:	n/a	n/a
19	POLR2A	chr19:36844332-36844396	A549	lung:	n/a	n/a
20	POLR2A	chr19:36837994-36838012	ProgFib	skin:	n/a	n/a
21	POLR2A	chr19:36858427-36858525	MCF-7	breast:	n/a	n/a
22	POLR2A	chr19:36858448-36858486	HepG2	liver:	n/a	n/a
23	POLR2A	chr19:36857250-36857566	HepG2	liver:	n/a	n/a
24	POLR2A	chr19:36840519-36840537	MCF-7	breast:	n/a	n/a
25	SETDB1	chr19:36830449-36832482	U2OS	brain:	n/a	n/a
26	STAT3	chr19:36862462-36862546	MCF10A-Er-Src	breast:	n/a	n/a
27	STAT3	chr19:36847674-36847720	MCF10A-Er-Src	breast:	n/a	n/a
28	STAT3	chr19:36856097-36856383	MCF10A-Er-Src	breast:	n/a	n/a
29	TCF12	chr19:36831042-36832431	A549	lung:	n/a	n/a
30	USF1	chr19:36837801-36838009	H1-hESC	embryonic stem cell:	n/a	n/a
31	ZNF274	chr19:36831761-36832347	GM12878	blood:	n/a	n/a
32	ZNF274	chr19:36830556-36832547	K562	blood:	n/a	n/a
33	ZNF274	chr19:36831604-36832322	GM08714	blood:	n/a	n/a
34	ZNF274	chr19:36831067-36832472	NT2-D1	testis:	n/a	n/a
35	ZNF274	chr19:36831848-36832156	Hela-S3	cervix:	n/a	n/a
36	ZNF274	chr19:36830872-36832549	H1-hESC	embryonic stem cell:	n/a	n/a
37	ZNF274	chr19:36830908-36832463	HepG2	liver:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:36859455-36859505	HRPEpiC	eye:	n/a
2	chr19:36859455-36859505	HCPEpiC	choroid plexus:	n/a
3	chr19:36859455-36859505	A549	lung:	n/a
4	chr19:36833695-36833745	HepG2	liver:	n/a
5	chr19:36860285-36860335	AG10803	skin:	n/a
6	chr19:36833695-36833745	HRE	kidney:	n/a
7	chr19:36860285-36860335	PFSK-1	brain:	n/a
8	chr19:36833695-36833745	HIPEpiC	eye:	n/a
9	chr19:36860285-36860335	PANC-1	pancreas:	n/a
10	chr19:36833695-36833745	HUVEC	blood vessel:	n/a
11	chr19:36860285-36860335	ProgFib	skin:	n/a
12	chr19:36859455-36859505	HCT-116	colon:	n/a
13	chr19:36833695-36833745	ECC-1	luminal epithelium:	n/a
14	chr19:36859455-36859505	PFSK-1	brain:	n/a
15	chr19:36833695-36833745	PFSK-1	brain:	n/a
16	chr19:36859455-36859505	K562	blood:	n/a
17	chr19:36860285-36860335	AoSMC	blood vessel:	n/a
18	chr19:36860285-36860335	AG09319	gingival:	n/a
19	chr19:36860285-36860335	Hela-S3	cervix:	n/a
20	chr19:36833695-36833745	AG04450	lung:	fetal
21	chr19:36859455-36859505	AG10803	skin:	n/a
22	chr19:36860285-36860335	GM12878	blood:	n/a
23	chr19:36833695-36833745	ProgFib	skin:	n/a
24	chr19:36859455-36859505	AoSMC	blood vessel:	n/a
25	chr19:36859455-36859505	HCF	heart:	n/a
26	chr19:36860285-36860335	SAEC	small airway:	n/a
27	chr19:36860285-36860335	NB4	blood:	n/a
28	chr19:36859455-36859505	GM12891	blood:	n/a
29	chr19:36859455-36859505	NHDF-neo	bronchial:	n/a
30	chr19:36833695-36833745	HPAEpiC	pulmonary alveolar:	n/a
31	chr19:36859455-36859505	NT2-D1	testis:	n/a
32	chr19:36833695-36833745	GM06990	blood:	n/a
33	chr19:36860285-36860335	GM19239	blood:	n/a
34	chr19:36859455-36859505	GM12878	blood:	n/a
35	chr19:36860285-36860335	HIPEpiC	eye:	n/a
36	chr19:36833695-36833745	RPTEC	kidney:	n/a
37	chr19:36833695-36833745	SAEC	small airway:	n/a
38	chr19:36860285-36860335	CMK	blood:	n/a
39	chr19:36859455-36859505	SAEC	small airway:	n/a
40	chr19:36833695-36833745	PrEC	prostate:	n/a
41	chr19:36860285-36860335	HL-60	blood:	n/a
42	chr19:36860285-36860335	HEK293	kidney:	embryo
43	chr19:36833695-36833745	K562	blood:	n/a
44	chr19:36859455-36859505	PANC-1	pancreas:	n/a
45	chr19:36859455-36859505	CMK	blood:	n/a
46	chr19:36833695-36833745	AG10803	skin:	n/a
47	chr19:36860285-36860335	T-47D	breast:	n/a
48	chr19:36860285-36860335	ECC-1	luminal epithelium:	n/a
49	chr19:36860285-36860335	HRE	kidney:	n/a
50	chr19:36859455-36859505	HIPEpiC	eye:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:36848342..36851339-chr19:37018243..37021228,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000266973	TF binding region
ZFP14	TF binding region
ENSG00000266973	CpG island
ZFP14	CpG island
ENSG00000254004	chromatin interactions
ENSG00000228629	chromatin interactions

Extended variants
information (count: 1229 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:1229 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201566504	chr19:36831764-36831765	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs375496169	chr19:36831765-36831766	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs551082039	chr19:36831842-36831843	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs372447154	chr19:36831866-36831867	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs200966885	chr19:36831902-36831903	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs183556226	chr19:36831917-36831918	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs75480801	chr19:36831950-36831951	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs146085905	chr19:36832041-36832042	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs75094162	chr19:36832050-36832051	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs532664495	chr19:36832059-36832060	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs140092323	chr19:36832105-36832106	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs149459987	chr19:36832131-36832132	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs201374911	chr19:36832142-36832143	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs199675382	chr19:36832178-36832179	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs200922195	chr19:36832194-36832195	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs35709009	chr19:36832203-36832204	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs62112571	chr19:36832204-36832205	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs138774153	chr19:36832209-36832210	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs200476359	chr19:36832211-36832212	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs555415825	chr19:36832235-36832236	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs375431657	chr19:36832267-36832268	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs369497541	chr19:36832342-36832343	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs141835457	chr19:36832361-36832362	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs199903318	chr19:36832408-36832409	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs115297808	chr19:36832427-36832428	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs556078129	chr19:36832459-36832460	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs569438373	chr19:36832492-36832493	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs536624476	chr19:36832508-36832509	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs371513002	chr19:36832518-36832519	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs371055249	chr19:36832557-36832558	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs578030888	chr19:36832571-36832572	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs545275638	chr19:36832611-36832612	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs554215623	chr19:36832620-36832621	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs191447906	chr19:36832625-36832626	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs116123717	chr19:36832631-36832632	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs561460852	chr19:36832691-36832692	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs531695811	chr19:36832738-36832739	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs149296665	chr19:36832744-36832745	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs386808997	chr19:36832765-36832766	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs184083945	chr19:36832822-36832823	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs188583336	chr19:36832839-36832840	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs554336444	chr19:36832840-36832841	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs567444094	chr19:36832847-36832848	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs532677466	chr19:36832854-36832855	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs547651341	chr19:36832906-36832907	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs534919702	chr19:36832910-36832911	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs557548005	chr19:36832911-36832912	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs57472603	chr19:36832947-36832948	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs191465980	chr19:36832951-36832952	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs553164946	chr19:36832994-36832995	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	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
Adenoid cystic carcinoma	18698036	CNVD
Ductal carcinoma	22052326	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Congenital nephrotic syndrome	18421352	CNVD
Astrocytoma	17934521	CNVD
Leukemia	17361228	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Breast cancer	21858162	CNVD
Breast cancer	17603634	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Oligodendroglial tumors	17285580	CNVD
renal disease	20603712	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Ovarian cancer	21397856	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Ovarian cancer	20844748	CNVD
Non-small cell lung cancer	21829676	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Cancer	21183584	CNVD
Honadal dysgenesis	21048976	CNVD
Neurodevelopmental disorder	22521361	CNVD
Endometrial cancer	23636398	CNVD
Disorders of sex development	21048976	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21364760	CNVD
Invasive pancreatic ductal carcinoma	18765526	CNVD
Rhabdomyosarcoma	16790082	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Glioma	17123091	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Multiple myeloma	16616336	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:1229 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36823800-36853600	ZNF genes & repeats	Liver	Liver
2	chr19:36824600-36838000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr19:36825000-36836600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr19:36826600-36840000	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
5	chr19:36827000-36831800	Weak transcription	Fetal Stomach	stomach
6	chr19:36827200-36839800	ZNF genes & repeats	Primary T cells from cord blood	blood
7	chr19:36827200-36840000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
8	chr19:36827200-36841600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
9	chr19:36827200-36844200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr19:36827200-36862200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr19:36827400-36833800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
12	chr19:36827400-36836800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr19:36827400-36839800	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
14	chr19:36827400-36840000	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
15	chr19:36827400-36843400	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
16	chr19:36827600-36832400	ZNF genes & repeats	Primary B cells from cord blood	blood
17	chr19:36828400-36832600	ZNF genes & repeats	A549	lung
18	chr19:36829400-36832200	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
19	chr19:36829400-36832400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
20	chr19:36829400-36832800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
21	chr19:36829800-36832600	ZNF genes & repeats	Stomach Smooth Muscle	stomach
22	chr19:36829800-36834000	ZNF genes & repeats	Brain Hippocampus Middle	brain
23	chr19:36830000-36832400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
24	chr19:36830000-36832400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr19:36830000-36832400	ZNF genes & repeats	Brain Anterior Caudate	brain
26	chr19:36830000-36832400	ZNF genes & repeats	Brain Germinal Matrix	brain
27	chr19:36830000-36832400	ZNF genes & repeats	Fetal Kidney	kidney
28	chr19:36830000-36832400	ZNF genes & repeats	Fetal Lung	lung
29	chr19:36830000-36832600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr19:36830000-36832600	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
31	chr19:36830000-36832600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
32	chr19:36830000-36832600	ZNF genes & repeats	Dnd41	blood
33	chr19:36830000-36834800	ZNF genes & repeats	Adipose Nuclei	Adipose
34	chr19:36830200-36832200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
35	chr19:36830200-36832200	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr19:36830200-36832200	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
37	chr19:36830200-36832200	ZNF genes & repeats	Left Ventricle	heart
38	chr19:36830200-36832400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr19:36830200-36832400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
40	chr19:36830200-36832400	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
41	chr19:36830200-36832400	ZNF genes & repeats	Brain Substantia Nigra	brain
42	chr19:36830200-36832400	ZNF genes & repeats	Duodenum Mucosa	Duodenum
43	chr19:36830200-36832400	ZNF genes & repeats	Fetal Brain Male	brain
44	chr19:36830200-36832400	ZNF genes & repeats	Rectal Smooth Muscle	rectum
45	chr19:36830200-36832400	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
46	chr19:36830200-36832600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr19:36830200-36832600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
48	chr19:36830200-36832600	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr19:36830200-36832600	ZNF genes & repeats	Brain Angular Gyrus	brain
50	chr19:36830200-36832600	ZNF genes & repeats	Brain Cingulate Gyrus	brain

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