Variant report

Variant	nsv911471
Chromosome Location	chr19:23880249-23930879
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:10416054..10418828-chr19:23906524..23908025,2	MCF-7	breast:
2	chr19:23900187..23902278-chr19:23940194..23942513,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF675-3	chr19:23926812-23927078	l_1665_chr19:23924177-23932637_testes
2	lnc-ZNF675-2	chr19:23922003-23923732	NONHSAT063932
3	lnc-ZNF675-3	chr19:23924178-23924868	l_1665_chr19:23924177-23932637_testes

No data

Variant related genes	Relation type
ENSG00000196172	chromatin interactions

Extended variants
information (count: 1046 )
Associated
traits (count: 40 )

Variant overlapped rSNPs/rCNVs (count:1046 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10445627	chr19:23880249-23880250	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs563448804	chr19:23880262-23880263	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs191673172	chr19:23880294-23880295	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs184082838	chr19:23880299-23880300	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs548983169	chr19:23880328-23880329	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs188961995	chr19:23880337-23880338	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs577655687	chr19:23880351-23880352	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs535720365	chr19:23880355-23880356	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs191418465	chr19:23880364-23880365	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs565858090	chr19:23880377-23880378	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs544807691	chr19:23880398-23880399	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs35642103	chr19:23880405-23880406	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs151058628	chr19:23880438-23880439	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs576213498	chr19:23880493-23880494	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs543296368	chr19:23880536-23880537	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs537008905	chr19:23880561-23880562	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs555422730	chr19:23880653-23880654	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs553706785	chr19:23880684-23880685	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs530719554	chr19:23880710-23880711	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs78949406	chr19:23880838-23880839	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs76933450	chr19:23880839-23880840	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs6511499	chr19:23880875-23880876	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs559832828	chr19:23880898-23880899	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs142449945	chr19:23880961-23880962	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs182253704	chr19:23880994-23880995	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs543964774	chr19:23880999-23881000	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs563410155	chr19:23881030-23881031	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs562376014	chr19:23881058-23881059	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs186554453	chr19:23881090-23881091	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs8111092	chr19:23881098-23881099	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs191680983	chr19:23881140-23881141	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs560933210	chr19:23881141-23881142	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs184713844	chr19:23881206-23881207	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs117615580	chr19:23881215-23881216	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs565839025	chr19:23881355-23881356	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs146709117	chr19:23881390-23881391	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs193153621	chr19:23881415-23881416	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs569737545	chr19:23881439-23881440	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs563959296	chr19:23881457-23881458	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs185672007	chr19:23881507-23881508	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs1830183	chr19:23881510-23881511	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs567241688	chr19:23881581-23881582	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs534365258	chr19:23881596-23881597	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs189416964	chr19:23881628-23881629	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs545171780	chr19:23881636-23881637	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs181825417	chr19:23881654-23881655	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs545171054	chr19:23881666-23881667	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs185401108	chr19:23881703-23881704	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs575468379	chr19:23881740-23881741	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs147930949	chr19:23881765-23881766	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:40)

Disease	PMID	Source
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
Ductal carcinoma	22052326	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:375 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:23870600-23881200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr19:23876000-23881400	Weak transcription	Placenta	Placenta
3	chr19:23880200-23880600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr19:23880600-23882800	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr19:23881200-23881400	Enhancers	Rectal Mucosa Donor 29	rectum
6	chr19:23881200-23881400	Enhancers	NHEK	skin
7	chr19:23881200-23882600	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr19:23881400-23881600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
9	chr19:23881400-23881600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr19:23881400-23881800	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr19:23881400-23881800	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr19:23881400-23881800	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr19:23881400-23881800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
14	chr19:23881400-23882200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr19:23881400-23882600	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr19:23881400-23882800	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr19:23881400-23882800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr19:23881400-23883000	Flanking Active TSS	NHEK	skin
19	chr19:23881400-23883400	Enhancers	Placenta	Placenta
20	chr19:23881600-23881800	Enhancers	K562	blood
21	chr19:23881600-23882200	Active TSS	Rectal Mucosa Donor 31	rectum
22	chr19:23881600-23882400	Enhancers	H9 Cell Line	embryonic stem cell
23	chr19:23881600-23882400	Enhancers	Esophagus	oesophagus
24	chr19:23881600-23882800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr19:23881800-23882000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr19:23881800-23882000	Active TSS	Rectal Mucosa Donor 29	rectum
27	chr19:23881800-23882200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
28	chr19:23881800-23882200	Active TSS	K562	blood
29	chr19:23881800-23882400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
30	chr19:23881800-23882400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr19:23881800-23882400	Active TSS	HepG2	liver
32	chr19:23881800-23882600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
33	chr19:23881800-23882600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr19:23881800-23882600	Enhancers	Colon Smooth Muscle	Colon
35	chr19:23882000-23882200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
36	chr19:23882200-23882400	Active TSS	Rectal Mucosa Donor 29	rectum
37	chr19:23882200-23882400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
38	chr19:23882200-23882400	Flanking Active TSS	K562	blood
39	chr19:23882200-23882600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr19:23882200-23882600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr19:23882200-23882800	Enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr19:23882200-23882800	Enhancers	Placenta Amnion	Placenta Amnion
43	chr19:23882400-23882600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
44	chr19:23882400-23882600	Enhancers	Rectal Mucosa Donor 31	rectum
45	chr19:23882400-23882600	Active TSS	K562	blood
46	chr19:23882400-23883000	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr19:23882600-23883000	Enhancers	K562	blood
48	chr19:23882800-23883000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
49	chr19:23882800-23883600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr19:23882800-23885800	Weak transcription	HUES48 Cell Line	embryonic stem cell

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