Variant report

Variant	nsv578981
Chromosome Location	chr19:23122426-23175602
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:70)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:70 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CBX3	chr19:23128402-23128691	HCT-116	colon:	n/a	n/a
2	CBX3	chr19:23128448-23128739	K562	blood:	n/a	n/a
3	CBX3	chr19:23128373-23128734	K562	blood:	n/a	n/a
4	CEBPZ	chr19:23128408-23128691	HepG2	liver:	n/a	n/a
5	CTCF	chr19:23137076-23137102	GM13976	blood:	n/a	n/a
6	CTCF	chr19:23128743-23128811	GM20000	blood:	n/a	n/a
7	CTCF	chr19:23173206-23173260	GM13976	blood:	n/a	n/a
8	CTCF	chr19:23164225-23164312	GM13976	blood:	n/a	n/a
9	CTCF	chr19:23126604-23126632	LNCaP	prostate:	n/a	n/a
10	CTCF	chr19:23166275-23166306	Lung_OC	lung:	n/a	n/a
11	CTCF	chr19:23164064-23164133	Lung_OC	lung:	n/a	n/a
12	CUX1	chr19:23158152-23158173	GM12878	blood:	n/a	n/a
13	IRF1	chr19:23128492-23128575	K562	blood:	n/a	n/a
14	IRF1	chr19:23128491-23128683	K562	blood:	n/a	n/a
15	JUN	chr19:23128536-23128736	K562	blood:	n/a	n/a
16	KAP1	chr19:23128249-23128887	HEK293	kidney:	n/a	n/a
17	KAP1	chr19:23128035-23128973	K562	blood:	n/a	n/a
18	KAP1	chr19:23158188-23159550	HEK293	kidney:	n/a	n/a
19	KAP1	chr19:23158069-23159732	K562	blood:	n/a	n/a
20	KAP1	chr19:23158948-23159329	U2OS	brain:	n/a	n/a
21	KAP1	chr19:23128413-23128733	U2OS	brain:	n/a	n/a
22	MAFF	chr19:23150312-23150613	HepG2	liver:	n/a	n/a
23	MAFK	chr19:23150315-23150645	IMR90	lung:	n/a	n/a
24	MAFK	chr19:23150326-23150541	HepG2	liver:	n/a	n/a
25	MAFK	chr19:23161031-23161256	HepG2	liver:	n/a	chr19:23161142-23161157
26	MAFK	chr19:23150291-23150626	HepG2	liver:	n/a	n/a
27	MAFK	chr19:23157125-23157243	HepG2	liver:	n/a	n/a
28	MAFK	chr19:23143946-23144147	HepG2	liver:	n/a	chr19:23144005-23144021 chr19:23144006-23144017 chr19:23144005-23144016 chr19:23144005-23144016 chr19:23144004-23144018 chr19:23144006-23144017
29	MAFK	chr19:23161021-23161261	HepG2	liver:	n/a	chr19:23161142-23161157
30	MAX	chr19:23128504-23128630	NB4	blood:	n/a	n/a
31	MXI1	chr19:23172588-23172685	GM12878	blood:	n/a	n/a
32	MYC	chr19:23128444-23128645	K562	blood:	n/a	n/a
33	MYC	chr19:23128521-23128647	NB4	blood:	n/a	n/a
34	MYC	chr19:23128508-23128648	HUVEC	blood vessel:	n/a	n/a
35	MYC	chr19:23128674-23128676	K562	blood:	n/a	n/a
36	MYC	chr19:23128685-23128721	K562	blood:	n/a	n/a
37	POLR2A	chr19:23167819-23167924	MCF10A-Er-Src	breast:	n/a	n/a
38	POLR2A	chr19:23132731-23132741	MCF-7	breast:	n/a	n/a
39	POLR2A	chr19:23132555-23132561	A549	lung:	n/a	n/a
40	POLR2A	chr19:23153520-23153707	MCF10A-Er-Src	breast:	n/a	n/a
41	POLR2A	chr19:23127257-23127284	GM12878	blood:	n/a	n/a
42	POLR2A	chr19:23132563-23132694	A549	lung:	n/a	n/a
43	POLR2A	chr19:23161322-23161503	A549	lung:	n/a	n/a
44	SETDB1	chr19:23128299-23128916	U2OS	brain:	n/a	n/a
45	SETDB1	chr19:23157689-23159525	K562	blood:	n/a	n/a
46	SETDB1	chr19:23128385-23128742	K562	blood:	n/a	n/a
47	SETDB1	chr19:23158092-23159668	U2OS	brain:	n/a	n/a
48	SPI1	chr19:23164747-23164979	GM12891	blood:	n/a	n/a
49	STAT3	chr19:23150386-23150485	MCF10A-Er-Src	breast:	n/a	n/a
50	TCF12	chr19:23158007-23158704	A549	lung:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:22121231..22124221-chr19:23121228..23123891,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF724P-2	chr19:23171059-23171253	NONHSAT063835
2	lnc-ZNF99-2	chr19:23128467-23128510	XLOC_013271

No data

Variant related genes	Relation type
ZNF728	TF binding region
ENSG00000271661	TF binding region
ENSG00000269615	chromatin interactions

Extended variants
information (count: 1120 )
Associated
traits (count: 41 )

Variant overlapped rSNPs/rCNVs (count:1120 , 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	rs424913	chr19:23122426-23122427	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs529887798	chr19:23122479-23122480	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs548380946	chr19:23122531-23122532	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs367741296	chr19:23122561-23122562	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs192524535	chr19:23122601-23122602	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs527573063	chr19:23122603-23122604	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs428612	chr19:23122604-23122605	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs386808031	chr19:23122614-23122615	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs436550	chr19:23122620-23122621	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs549822284	chr19:23122643-23122644	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs449210	chr19:23122647-23122648	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs535210259	chr19:23122702-23122703	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs553939160	chr19:23122714-23122715	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs185312717	chr19:23122743-23122744	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs149261732	chr19:23122746-23122747	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs375188754	chr19:23122747-23122748	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs143464556	chr19:23122759-23122760	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs188796876	chr19:23122786-23122787	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs370584898	chr19:23122787-23122788	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs543472270	chr19:23122790-23122791	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs373715264	chr19:23122792-23122793	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs562141236	chr19:23122827-23122828	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs181946953	chr19:23122851-23122852	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs117067199	chr19:23122874-23122875	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs540313330	chr19:23122890-23122891	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs367820998	chr19:23122891-23122892	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs137885650	chr19:23122934-23122935	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs144147436	chr19:23122951-23122952	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs75292751	chr19:23122959-23122960	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs184826333	chr19:23122989-23122990	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs564245282	chr19:23123019-23123020	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs371700307	chr19:23123067-23123068	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs147323433	chr19:23123100-23123101	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs386808032	chr19:23123102-23123103	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs567761679	chr19:23123107-23123108	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs73023689	chr19:23123126-23123127	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs547095749	chr19:23123164-23123165	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs111285015	chr19:23123198-23123199	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs189295624	chr19:23123276-23123277	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs558399344	chr19:23123290-23123291	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs112113828	chr19:23123344-23123345	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs181024971	chr19:23123372-23123373	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs540963189	chr19:23123398-23123399	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs5827542	chr19:23123399-23123400	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs112061494	chr19:23123400-23123401	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs368117954	chr19:23123402-23123403	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs373883699	chr19:23123404-23123405	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs543559263	chr19:23123406-23123407	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs77317355	chr19:23123420-23123421	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs569195352	chr19:23123421-23123422	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:41)

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
Acute lymphoblastic leukemia	21248843	CNVD
Lung cancer	18438408	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Colorectal cancer	20459617	CNVD
small cell lung cancer	20016488	CNVD
Ductal carcinoma	22052326	CNVD
Cancer	20164920	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:23126600-23130000	ZNF genes & repeats	Adipose Nuclei	Adipose
2	chr19:23127400-23129600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr19:23128000-23129800	ZNF genes & repeats	Liver	Liver
4	chr19:23128000-23130600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
5	chr19:23128000-23130600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
6	chr19:23128400-23128800	Active TSS	Fetal Heart	heart
7	chr19:23129400-23130000	Active TSS	Right Atrium	heart
8	chr19:23132400-23133000	ZNF genes & repeats	Adipose Nuclei	Adipose
9	chr19:23132400-23133200	ZNF genes & repeats	Duodenum Mucosa	Duodenum
10	chr19:23153400-23153800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
11	chr19:23153800-23154800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr19:23154000-23155400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
13	chr19:23154800-23155600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
14	chr19:23155400-23156200	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr19:23155600-23156400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr19:23156200-23157000	ZNF genes & repeats	Aorta	Aorta
17	chr19:23156200-23159400	ZNF genes & repeats	Left Ventricle	heart
18	chr19:23156200-23162000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr19:23156200-23164600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
20	chr19:23156400-23159600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
21	chr19:23157000-23158000	Weak transcription	Aorta	Aorta
22	chr19:23157000-23162200	ZNF genes & repeats	Adipose Nuclei	Adipose
23	chr19:23157600-23160000	ZNF genes & repeats	Brain Hippocampus Middle	brain
24	chr19:23157600-23161600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
25	chr19:23157600-23161800	ZNF genes & repeats	Liver	Liver
26	chr19:23157600-23162000	ZNF genes & repeats	Colon Smooth Muscle	Colon
27	chr19:23157800-23160600	ZNF genes & repeats	Duodenum Mucosa	Duodenum
28	chr19:23158000-23159400	ZNF genes & repeats	Aorta	Aorta
29	chr19:23158000-23159400	ZNF genes & repeats	Brain Cingulate Gyrus	brain
30	chr19:23158000-23159800	ZNF genes & repeats	Brain Substantia Nigra	brain
31	chr19:23158000-23161800	ZNF genes & repeats	Brain Anterior Caudate	brain
32	chr19:23158600-23159600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
33	chr19:23158600-23159600	ZNF genes & repeats	Right Ventricle	heart
34	chr19:23158600-23159800	ZNF genes & repeats	Ovary	ovary
35	chr19:23158600-23160400	ZNF genes & repeats	Fetal Heart	heart
36	chr19:23158600-23162000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
37	chr19:23158800-23159600	ZNF genes & repeats	Stomach Smooth Muscle	stomach
38	chr19:23158800-23160400	ZNF genes & repeats	Rectal Smooth Muscle	rectum
39	chr19:23159400-23160200	Weak transcription	Left Ventricle	heart
40	chr19:23159400-23161200	Weak transcription	Aorta	Aorta
41	chr19:23159600-23161200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr19:23160200-23160400	ZNF genes & repeats	Left Ventricle	heart
43	chr19:23160400-23161200	Weak transcription	Left Ventricle	heart
44	chr19:23161200-23161400	ZNF genes & repeats	Brain Hippocampus Middle	brain
45	chr19:23161200-23161400	ZNF genes & repeats	Rectal Smooth Muscle	rectum
46	chr19:23161200-23161600	ZNF genes & repeats	Aorta	Aorta
47	chr19:23161200-23162000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
48	chr19:23161200-23162000	ZNF genes & repeats	Left Ventricle	heart
49	chr19:23161200-23162000	ZNF genes & repeats	Ovary	ovary
50	chr19:23161200-23162000	ZNF genes & repeats	Right Ventricle	heart

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