Variant report

Variant	nsv1057107
Chromosome Location	chr19:20171392-20193556
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:237)
CpG islands
(count:429)
Chromatin interactive
region (count:1)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:237 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr19:20193391-20193678	H1-hESC	embryonic stem cell:	n/a	n/a
2	ATF3	chr19:20188548-20188771	H1-hESC	embryonic stem cell:	n/a	n/a
3	BATF	chr19:20172606-20172805	GM12878	blood:	n/a	n/a
4	CEBPB	chr19:20188523-20188788	IMR90	lung:	n/a	n/a
5	CEBPB	chr19:20193308-20193673	HepG2	liver:	n/a	chr19:20193478-20193489
6	CEBPB	chr19:20193299-20193673	H1-hESC	embryonic stem cell:	n/a	chr19:20193478-20193489
7	CEBPB	chr19:20188442-20188838	H1-hESC	embryonic stem cell:	n/a	n/a
8	CEBPB	chr19:20188518-20188850	HepG2	liver:	n/a	n/a
9	CEBPB	chr19:20193350-20193615	K562	blood:	n/a	chr19:20193478-20193489
10	CHD1	chr19:20189886-20190202	H1-hESC	embryonic stem cell:	n/a	n/a
11	CHD1	chr19:20189210-20189567	H1-hESC	embryonic stem cell:	n/a	n/a
12	CHD1	chr19:20188740-20189008	H1-hESC	embryonic stem cell:	n/a	n/a
13	CHD2	chr19:20188511-20188983	H1-hESC	embryonic stem cell:	n/a	n/a
14	CTCF	chr19:20173902-20173972	Lung_OC	lung:	n/a	n/a
15	CTCF	chr19:20189024-20189171	IMR90	lung:	n/a	chr19:20189094-20189115
16	CTCF	chr19:20189020-20189170	AG04449	skin:	n/a	chr19:20189094-20189115
17	CTCF	chr19:20189000-20189150	BJ	skin:	n/a	chr19:20189094-20189115
18	CTCF	chr19:20189000-20189150	HBMEC	blood vessel:	n/a	chr19:20189094-20189115
19	CTCF	chr19:20189080-20189230	HPAF	blood vessel:	n/a	chr19:20189094-20189115
20	CTCF	chr19:20191197-20191229	GM13976	blood:	n/a	n/a
21	CTCF	chr19:20189080-20189230	NHDF-neo	bronchial:	n/a	chr19:20189094-20189115
22	CTCF	chr19:20189095-20189106	Kidney_OC	kidney:	n/a	n/a
23	CTCF	chr19:20189020-20189170	HEEpiC	esophagus:	n/a	chr19:20189094-20189115
24	CTCF	chr19:20189040-20189190	AG04449	skin:	n/a	chr19:20189094-20189115
25	CTCF	chr19:20189000-20189150	HMF	breast:	n/a	chr19:20189094-20189115
26	CTCF	chr19:20189060-20189210	HBMEC	blood vessel:	n/a	chr19:20189094-20189115
27	CTCF	chr19:20188920-20189070	HFF	foreskin:	n/a	n/a
28	CTCF	chr19:20188960-20189110	BJ	skin:	n/a	n/a
29	CTCF	chr19:20188689-20188793	Spleen_OC	spleen:	n/a	n/a
30	CTCF	chr19:20189060-20189210	HCPEpiC	choroid plexus:	n/a	chr19:20189094-20189115
31	CTCF	chr19:20189060-20189210	HA-sp	spinal cord:	n/a	chr19:20189094-20189115
32	CTCF	chr19:20188706-20188779	Lung_OC	lung:	n/a	n/a
33	CTCF	chr19:20189020-20189170	AG10803	skin:	n/a	chr19:20189094-20189115
34	CTCF	chr19:20189060-20189210	NB4	blood:	n/a	chr19:20189094-20189115
35	CTCF	chr19:20188980-20189130	SK-N-SH_RA	brain:	n/a	chr19:20189094-20189115
36	CTCF	chr19:20189061-20189158	H1-hESC	embryonic stem cell:	n/a	chr19:20189094-20189115
37	CTCF	chr19:20189080-20189230	HRE	kidney:	n/a	chr19:20189094-20189115
38	CTCF	chr19:20189080-20189230	Caco-2	colon:	n/a	chr19:20189094-20189115
39	CTCF	chr19:20189040-20189190	BE2_C	brain:	n/a	chr19:20189094-20189115
40	CTCF	chr19:20189020-20189170	AG09319	gingival:	n/a	chr19:20189094-20189115
41	CTCF	chr19:20189000-20189150	GM12873	blood:	n/a	chr19:20189094-20189115
42	CTCF	chr19:20189040-20189190	NHEK	skin:	n/a	chr19:20189094-20189115
43	CTCF	chr19:20189049-20189109	MCF-7	breast:	n/a	n/a
44	CTCF	chr19:20189040-20189190	HRE	kidney:	n/a	chr19:20189094-20189115
45	CTCF	chr19:20189052-20189178	NHEK	skin:	n/a	chr19:20189094-20189115
46	CTCF	chr19:20188960-20189110	HCM	heart:	n/a	n/a
47	CTCF	chr19:20189000-20189150	HPAF	blood vessel:	n/a	chr19:20189094-20189115
48	CTCF	chr19:20189050-20189155	GM19239	blood:	n/a	chr19:20189094-20189115
49	CTCF	chr19:20178278-20178327	GM13976	blood:	n/a	n/a
50	CTCF	chr19:20189020-20189170	HPF	lung:	n/a	chr19:20189094-20189115

(count:429 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:20189112-20189162	GM12891	blood:	n/a
2	chr19:20188803-20188853	SKMC	muscle:	n/a
3	chr19:20189112-20189162	GM12891	blood:	n/a
4	chr19:20188803-20188853	SKMC	muscle:	n/a
5	chr19:20187337-20187387	CMK	blood:	n/a
6	chr19:20187745-20187795	SK-N-MC	brain:	n/a
7	chr19:20187307-20187357	HIPEpiC	eye:	n/a
8	chr19:20188803-20188853	Hepatocyte	liver:	n/a
9	chr19:20188803-20188853	Caco-2	colon:	n/a
10	chr19:20189112-20189162	PANC-1	pancreas:	n/a
11	chr19:20188738-20188788	PFSK-1	brain:	n/a
12	chr19:20188803-20188853	HCF	heart:	n/a
13	chr19:20189112-20189162	PrEC	prostate:	n/a
14	chr19:20187745-20187795	BE2_C	brain:	n/a
15	chr19:20187307-20187357	HCF	heart:	n/a
16	chr19:20188803-20188853	HRE	kidney:	n/a
17	chr19:20188738-20188788	RPTEC	kidney:	n/a
18	chr19:20188738-20188788	NH-A	brain:	n/a
19	chr19:20189112-20189162	NHDF-neo	bronchial:	n/a
20	chr19:20187745-20187795	NH-A	brain:	n/a
21	chr19:20187307-20187357	NH-A	brain:	n/a
22	chr19:20187745-20187795	HEEpiC	esophagus:	n/a
23	chr19:20189112-20189162	HEK293	kidney:	embryo
24	chr19:20188803-20188853	PANC-1	pancreas:	n/a
25	chr19:20189112-20189162	RPTEC	kidney:	n/a
26	chr19:20188738-20188788	K562	blood:	n/a
27	chr19:20187337-20187387	Hela-S3	cervix:	n/a
28	chr19:20187745-20187795	K562	blood:	n/a
29	chr19:20187337-20187387	HCPEpiC	choroid plexus:	n/a
30	chr19:20188738-20188788	AG04450	lung:	fetal
31	chr19:20187337-20187387	AG04449	skin:	fetal
32	chr19:20187307-20187357	T-47D	breast:	n/a
33	chr19:20187337-20187387	BJ	skin:	n/a
34	chr19:20188803-20188853	ovcar-3	ovarian:	n/a
35	chr19:20189702-20189752	SK-N-SH_RA	brain:	n/a
36	chr19:20188738-20188788	HCT-116	colon:	n/a
37	chr19:20189702-20189752	HEEpiC	esophagus:	n/a
38	chr19:20189702-20189752	PFSK-1	brain:	n/a
39	chr19:20188738-20188788	GM06990	blood:	n/a
40	chr19:20187745-20187795	PrEC	prostate:	n/a
41	chr19:20189112-20189162	HRE	kidney:	n/a
42	chr19:20187337-20187387	HAEpiC	amniotic membrane:	n/a
43	chr19:20187307-20187357	HCT-116	colon:	n/a
44	chr19:20187307-20187357	NT2-D1	testis:	n/a
45	chr19:20187307-20187357	SK-N-SH	brain:	n/a
46	chr19:20187337-20187387	A549	lung:	n/a
47	chr19:20188738-20188788	LNCaP	prostate:	n/a
48	chr19:20187337-20187387	ovcar-3	ovarian:	n/a
49	chr19:20188738-20188788	HPAEpiC	pulmonary alveolar:	n/a
50	chr19:20189702-20189752	HNPCEpiC	eye:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:20160443..20163353-chr19:20178782..20180876,2	MCF-7	breast:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF682-2	chr19:20190979-20191348	NONHSAT063625
2	lnc-ZNF486-7	chr19:20188846-20188944	NONHSAT063624
3	lnc-ZNF682-2	chr19:20190627-20190757	NONHSAT063625
4	lnc-ZNF486-7	chr19:20190596-20191128	NONHSAT063624
5	lnc-ZNF90-2	chr19:20173564-20174129	NONHSAT063623

No data

Variant related genes	Relation type
ENSG00000240673	TF binding region
ENSG00000269154	TF binding region
ZNF90	TF binding region
ENSG00000240673	CpG island
ENSG00000269154	CpG island
ZNF90	CpG island

Extended variants
information (count: 1131 )
Associated
traits (count: 42 )

Variant overlapped rSNPs/rCNVs (count:1131 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs180871114	chr19:20171400-20171401	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs531613383	chr19:20171406-20171407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs11673643	chr19:20171425-20171426	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs562824164	chr19:20171440-20171441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs58452777	chr19:20171467-20171468	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs148870529	chr19:20171479-20171480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs185227046	chr19:20171513-20171514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs567020185	chr19:20171522-20171523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs190091702	chr19:20171534-20171535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs549150870	chr19:20171592-20171593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs569322594	chr19:20171596-20171597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs538447977	chr19:20171604-20171605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs144121651	chr19:20171634-20171635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs8099841	chr19:20171692-20171693	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs529787908	chr19:20171705-20171706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs117271974	chr19:20171707-20171708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs8113674	chr19:20171739-20171740	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs574164518	chr19:20171741-20171742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs543173642	chr19:20171775-20171776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs569713416	chr19:20171784-20171785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs372574085	chr19:20171828-20171829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs8100688	chr19:20171832-20171833	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs576126146	chr19:20171835-20171836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs146450705	chr19:20171845-20171846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs564986635	chr19:20171878-20171879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs527626491	chr19:20171923-20171924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs546980693	chr19:20171924-20171925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs560585335	chr19:20171940-20171941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs529661336	chr19:20171961-20171962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs549575838	chr19:20171966-20171967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs55938704	chr19:20171977-20171978	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs58361002	chr19:20171979-20171980	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs144561536	chr19:20171986-20171987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs11878253	chr19:20172010-20172011	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs534530370	chr19:20172014-20172015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs181978165	chr19:20172018-20172019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs554184960	chr19:20172019-20172020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs567639050	chr19:20172020-20172021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs11881031	chr19:20172035-20172036	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs574176496	chr19:20172061-20172062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs11085296	chr19:20172071-20172072	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs36083214	chr19:20172094-20172095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs561956019	chr19:20172095-20172096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs576487217	chr19:20172110-20172111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs544873514	chr19:20172111-20172112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs200283120	chr19:20172153-20172154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs572274018	chr19:20172157-20172158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs558757564	chr19:20172160-20172161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs149565234	chr19:20172171-20172172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs58529787	chr19:20172179-20172180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:42)

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
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21364760	CNVD
Lung cancer	18438408	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Nasopharyngeal cancer	20548289	CNVD
Colorectal cancer	20459617	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:495 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:20164000-20173400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr19:20170000-20171400	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr19:20170200-20178200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr19:20171000-20173200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr19:20173200-20173600	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr19:20173400-20173600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr19:20173400-20174200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr19:20174200-20176000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr19:20175200-20175800	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr19:20175800-20176400	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
11	chr19:20176000-20177200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr19:20176400-20178400	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr19:20177200-20177600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr19:20177400-20178400	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr19:20177400-20178400	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr19:20177400-20178600	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr19:20177400-20180200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr19:20177600-20178400	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr19:20177600-20178800	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr19:20177600-20180200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr19:20177800-20179000	Enhancers	Fetal Intestine Large	intestine
22	chr19:20178200-20178400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr19:20178200-20179000	Enhancers	H1 Cell Line	embryonic stem cell
24	chr19:20178200-20179000	Enhancers	Fetal Intestine Small	intestine
25	chr19:20178200-20180200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr19:20178200-20180400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr19:20178400-20178800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
28	chr19:20178400-20178800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
29	chr19:20178400-20178800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
30	chr19:20178400-20179200	Enhancers	H9 Cell Line	embryonic stem cell
31	chr19:20178400-20179600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
32	chr19:20178600-20180000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
33	chr19:20178600-20181600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr19:20178800-20179000	Active TSS	HUES64 Cell Line	embryonic stem cell
35	chr19:20178800-20179000	Active TSS	iPS-20b Cell Line	embryonic stem cell
36	chr19:20178800-20179400	Active TSS	iPS-15b Cell Line	embryonic stem cell
37	chr19:20178800-20180000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr19:20179000-20179200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
39	chr19:20179000-20179200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
40	chr19:20179000-20179400	Flanking Active TSS	H1 Cell Line	embryonic stem cell
41	chr19:20179000-20179400	Active TSS	Fetal Intestine Large	intestine
42	chr19:20179000-20179600	Active TSS	Fetal Intestine Small	intestine
43	chr19:20179200-20179400	Active TSS	HUES64 Cell Line	embryonic stem cell
44	chr19:20179200-20179400	Active TSS	iPS-20b Cell Line	embryonic stem cell
45	chr19:20179200-20179600	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr19:20179400-20179600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
47	chr19:20179400-20179600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
48	chr19:20179400-20179600	Flanking Active TSS	Fetal Intestine Large	intestine
49	chr19:20179400-20179800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
50	chr19:20179400-20180200	Enhancers	H1 Cell Line	embryonic stem cell

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