Variant report

Variant	nsv828504
Chromosome Location	chr19:21749342-21767591
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:130)
CpG islands
(count:123)
Chromatin interactive
region (count:4)
LncRNA
region (count:8)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:130 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr19:21756597-21757002	K562	blood:	n/a	n/a
2	ATF1	chr19:21756594-21757067	K562	blood:	n/a	n/a
3	ATF3	chr19:21756520-21757045	K562	blood:	n/a	n/a
4	BHLHE40	chr19:21756673-21757583	K562	blood:	n/a	n/a
5	CBX3	chr19:21756514-21757083	K562	blood:	n/a	n/a
6	CEBPB	chr19:21756603-21757299	K562	blood:	n/a	n/a
7	CEBPB	chr19:21756680-21757218	K562	blood:	n/a	n/a
8	CEBPB	chr19:21750847-21750982	K562	blood:	n/a	n/a
9	CEBPB	chr19:21759510-21759606	K562	blood:	n/a	n/a
10	CEBPB	chr19:21750808-21751049	K562	blood:	n/a	n/a
11	CEBPB	chr19:21756463-21757311	K562	blood:	n/a	n/a
12	CHD2	chr19:21752031-21752238	H1-hESC	embryonic stem cell:	n/a	n/a
13	CREB1	chr19:21756465-21757280	K562	blood:	n/a	n/a
14	CREB1	chr19:21756576-21757234	K562	blood:	n/a	n/a
15	CTCF	chr19:21753960-21754110	GM12865	blood:	n/a	n/a
16	CTCF	chr19:21764536-21764601	Kidney_OC	kidney:	n/a	n/a
17	CTCF	chr19:21764774-21764931	K562	blood:	n/a	n/a
18	CTCF	chr19:21764680-21764830	K562	blood:	n/a	n/a
19	CTCF	chr19:21757218-21757312	Lung_OC	lung:	n/a	n/a
20	CUX1	chr19:21756568-21756943	K562	blood:	n/a	n/a
21	CUX1	chr19:21759134-21759150	GM12878	blood:	n/a	n/a
22	E2F4	chr19:21750186-21750225	MCF10A-Er-Src	breast:	n/a	n/a
23	EGR1	chr19:21756699-21757045	K562	blood:	n/a	n/a
24	EGR1	chr19:21756687-21757036	K562	blood:	n/a	n/a
25	ELF1	chr19:21751768-21752387	MCF-7	breast:	n/a	n/a
26	ELF1	chr19:21751794-21752441	MCF-7	breast:	n/a	n/a
27	EP300	chr19:21756584-21757170	K562	blood:	n/a	n/a
28	EP300	chr19:21762482-21762569	GM12878	blood:	n/a	n/a
29	FOSL1	chr19:21756681-21757013	K562	blood:	n/a	chr19:21756822-21756833
30	FOSL1	chr19:21756741-21757060	K562	blood:	n/a	chr19:21756822-21756833
31	FOXA2	chr19:21750825-21751193	A549	lung:	n/a	n/a
32	GABPA	chr19:21751741-21752336	MCF-7	breast:	n/a	n/a
33	GABPA	chr19:21751655-21752522	MCF-7	breast:	n/a	n/a
34	HCFC1	chr19:21756670-21757018	K562	blood:	n/a	n/a
35	HEY1	chr19:21751803-21752127	HepG2	liver:	n/a	n/a
36	HEY1	chr19:21751782-21752096	K562	blood:	n/a	n/a
37	HEY1	chr19:21751817-21752053	K562	blood:	n/a	n/a
38	HEY1	chr19:21751841-21751988	HepG2	liver:	n/a	n/a
39	IRF1	chr19:21757706-21757716	K562	blood:	n/a	n/a
40	IRF1	chr19:21756643-21757004	K562	blood:	n/a	n/a
41	JUN	chr19:21756654-21756875	HepG2	liver:	n/a	n/a
42	JUN	chr19:21756635-21757045	K562	blood:	n/a	n/a
43	JUN	chr19:21756645-21757073	K562	blood:	n/a	n/a
44	JUN	chr19:21756402-21757858	K562	blood:	n/a	chr19:21757615-21757628
45	JUN	chr19:21748886-21749378	K562	blood:	n/a	chr19:21749301-21749310
46	JUN	chr19:21757506-21757726	HepG2	liver:	n/a	chr19:21757615-21757628
47	JUN	chr19:21755367-21755523	HepG2	liver:	n/a	chr19:21755447-21755460
48	JUN	chr19:21756636-21757082	K562	blood:	n/a	n/a
49	JUN	chr19:21756642-21756999	K562	blood:	n/a	n/a
50	JUND	chr19:21755289-21755574	HepG2	liver:	n/a	n/a

(count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:21767566-21767616	HPAEpiC	pulmonary alveolar:	n/a
2	chr19:21767566-21767616	HPAEpiC	pulmonary alveolar:	n/a
3	chr19:21767566-21767616	SAEC	small airway:	n/a
4	chr19:21767566-21767616	H1-hESC	embryonic stem cell:	embryo
5	chr19:21767566-21767616	GM12892	blood:	n/a
6	chr19:21766543-21766593	AG04449	skin:	fetal
7	chr19:21766543-21766593	GM12891	blood:	n/a
8	chr19:21766543-21766593	HAEpiC	amniotic membrane:	n/a
9	chr19:21767566-21767616	RPTEC	kidney:	n/a
10	chr19:21766543-21766593	MCF-7	breast:	n/a
11	chr19:21766543-21766593	BJ	skin:	n/a
12	chr19:21767566-21767616	Jurkat	blood:	n/a
13	chr19:21766543-21766593	SK-N-SH_RA	brain:	n/a
14	chr19:21766543-21766593	AoSMC	blood vessel:	n/a
15	chr19:21767566-21767616	BJ	skin:	n/a
16	chr19:21766543-21766593	NB4	blood:	n/a
17	chr19:21767566-21767616	U87	brain:	n/a
18	chr19:21767566-21767616	HAEpiC	amniotic membrane:	n/a
19	chr19:21767566-21767616	AG04450	lung:	fetal
20	chr19:21767566-21767616	MCF10A-Er-Src	breast:	n/a
21	chr19:21766543-21766593	NT2-D1	testis:	n/a
22	chr19:21766543-21766593	HepG2	liver:	n/a
23	chr19:21766543-21766593	H1-hESC	embryonic stem cell:	embryo
24	chr19:21766543-21766593	ovcar-3	ovarian:	n/a
25	chr19:21766543-21766593	SK-N-SH	brain:	n/a
26	chr19:21767566-21767616	HIPEpiC	eye:	n/a
27	chr19:21767566-21767616	Caco-2	colon:	n/a
28	chr19:21766543-21766593	BE2_C	brain:	n/a
29	chr19:21767566-21767616	SK-N-SH_RA	brain:	n/a
30	chr19:21766543-21766593	Caco-2	colon:	n/a
31	chr19:21766543-21766593	PrEC	prostate:	n/a
32	chr19:21767566-21767616	NT2-D1	testis:	n/a
33	chr19:21767566-21767616	NB4	blood:	n/a
34	chr19:21767566-21767616	GM12878	blood:	n/a
35	chr19:21767566-21767616	PFSK-1	brain:	n/a
36	chr19:21766543-21766593	AG09309	skin:	n/a
37	chr19:21766543-21766593	HPAEpiC	pulmonary alveolar:	n/a
38	chr19:21766543-21766593	HNPCEpiC	eye:	n/a
39	chr19:21767566-21767616	HepG2	liver:	n/a
40	chr19:21766543-21766593	LNCaP	prostate:	n/a
41	chr19:21766543-21766593	AG10803	skin:	n/a
42	chr19:21766543-21766593	HMEC	breast:	n/a
43	chr19:21767566-21767616	HUVEC	blood vessel:	n/a
44	chr19:21767566-21767616	GM12891	blood:	n/a
45	chr19:21767566-21767616	NHBE	bronchial:	n/a
46	chr19:21766543-21766593	HL-60	blood:	n/a
47	chr19:21766543-21766593	SKMC	muscle:	n/a
48	chr19:21766543-21766593	SAEC	small airway:	n/a
49	chr19:21767566-21767616	HCM	heart:	n/a
50	chr19:21766543-21766593	HCT-116	colon:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:21757543..21760677-chr19:21760984..21764499,3	K562	blood:
2	chr19:21757543..21760677-chr19:21760984..21764499,3	K562	blood:
3	chr19:21759399..21762531-chr19:21766206..21768542,3	K562	blood:
4	chr19:21759399..21762531-chr19:21766206..21768542,3	K562	blood:

(count:8 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF100-2	chr19:21754050-21754341	NONHSAT063727
2	lnc-ZNF100-2	chr19:21762538-21762616	NONHSAT063727
3	lnc-ZNF100-3	chr19:21751906-21752039	ENSG00000268081.1
4	lnc-ZNF100-8	chr19:21763358-21765406	NONHSAT063728
5	lnc-ZNF100-3	chr19:21751906-21752048	XLOC_013263
6	lnc-ZNF100-2	chr19:21753624-21754341	ENSG00000268555.1
7	lnc-ZNF100-2	chr19:21753139-21754341	ENSG00000249473
8	lnc-ZNF100-2	chr19:21752904-21754341	NONHSAT063726

No data

Variant related genes	Relation type
ENSG00000268081	TF binding region
ENSG00000268081	CpG island

Extended variants
information (count: 1164 )
Associated
traits (count: 38 )

Variant overlapped rSNPs/rCNVs (count:1164 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs79693354	chr19:21749356-21749357	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs76595644	chr19:21749413-21749414	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs75172356	chr19:21749416-21749417	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs115270210	chr19:21749427-21749428	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs76862498	chr19:21749435-21749436	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs62110200	chr19:21749457-21749458	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs538183671	chr19:21749479-21749480	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs77328113	chr19:21749504-21749505	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs76013465	chr19:21749529-21749530	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs79076306	chr19:21749534-21749535	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs116389025	chr19:21749545-21749546	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs115712599	chr19:21749546-21749547	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs369805457	chr19:21749561-21749562	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs556456478	chr19:21749573-21749574	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs374185281	chr19:21749575-21749576	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs377614542	chr19:21749577-21749578	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs370657949	chr19:21749580-21749581	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs140005343	chr19:21749584-21749585	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs574864146	chr19:21749614-21749615	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs76706309	chr19:21749627-21749628	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs73025828	chr19:21749632-21749633	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs73025830	chr19:21749635-21749636	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs139935234	chr19:21749637-21749638	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs114618331	chr19:21749667-21749668	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs5827508	chr19:21749673-21749674	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs372778883	chr19:21749674-21749675	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs375424242	chr19:21749677-21749678	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs3052487	chr19:21749678-21749679	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs386807805	chr19:21749680-21749681	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs376465189	chr19:21749681-21749682	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs376192675	chr19:21749690-21749691	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs200117217	chr19:21749697-21749698	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs73025837	chr19:21749714-21749715	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs149669339	chr19:21749718-21749719	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs371323402	chr19:21749733-21749734	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs75491715	chr19:21749750-21749751	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs73025839	chr19:21749783-21749784	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs190423501	chr19:21749798-21749799	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs73025842	chr19:21749805-21749806	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs78155165	chr19:21749808-21749809	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs533972313	chr19:21749816-21749817	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs144070588	chr19:21749821-21749822	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs200319692	chr19:21749823-21749824	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs73025846	chr19:21749851-21749852	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs73025848	chr19:21749861-21749862	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs73550335	chr19:21749883-21749884	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs570186485	chr19:21749899-21749900	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs539002504	chr19:21749920-21749921	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs73550337	chr19:21749942-21749943	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs73929319	chr19:21749973-21749974	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:38)

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

Chromatin state (count:363 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21738000-21749400	Weak transcription	Left Ventricle	heart
2	chr19:21738000-21751400	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr19:21738600-21751600	Weak transcription	Osteobl	bone
4	chr19:21739400-21751200	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr19:21740600-21750600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr19:21742800-21750600	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr19:21743200-21750400	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr19:21743600-21751600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr19:21744800-21750600	Weak transcription	Colonic Mucosa	Colon
10	chr19:21744800-21750600	Weak transcription	Fetal Kidney	kidney
11	chr19:21745000-21750600	Weak transcription	Primary hematopoietic stem cells	blood
12	chr19:21745200-21749400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr19:21746600-21750600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr19:21746600-21751200	Weak transcription	Stomach Smooth Muscle	stomach
15	chr19:21746600-21751600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr19:21746600-21751600	Weak transcription	Fetal Brain Male	brain
17	chr19:21746800-21750200	Weak transcription	Ovary	ovary
18	chr19:21746800-21750400	Weak transcription	Primary B cells from peripheral blood	blood
19	chr19:21746800-21750600	Weak transcription	Fetal Muscle Trunk	muscle
20	chr19:21746800-21750800	Weak transcription	Fetal Lung	lung
21	chr19:21747000-21750200	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr19:21747000-21750200	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr19:21747000-21750400	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr19:21747200-21751200	Weak transcription	Fetal Stomach	stomach
25	chr19:21747400-21750600	Enhancers	Fetal Intestine Large	intestine
26	chr19:21747600-21749600	Weak transcription	Primary T cells from cord blood	blood
27	chr19:21747800-21750400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr19:21748000-21750600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr19:21748200-21750400	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr19:21748400-21751600	Weak transcription	Stomach Mucosa	stomach
31	chr19:21748800-21749600	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr19:21749000-21749800	ZNF genes & repeats	Liver	Liver
33	chr19:21749000-21750600	Enhancers	Dnd41	blood
34	chr19:21749000-21751200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr19:21749000-21751400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr19:21749200-21749400	Enhancers	Brain Germinal Matrix	brain
37	chr19:21749200-21750000	Enhancers	Primary T helper cells fromperipheralblood	blood
38	chr19:21749200-21750200	Enhancers	Fetal Intestine Small	intestine
39	chr19:21749200-21750400	Enhancers	Adipose Nuclei	Adipose
40	chr19:21749200-21750800	Weak transcription	Fetal Heart	heart
41	chr19:21749400-21749600	Enhancers	Left Ventricle	heart
42	chr19:21749400-21750800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
43	chr19:21749600-21750000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr19:21749600-21750200	Weak transcription	Left Ventricle	heart
45	chr19:21749600-21750600	Enhancers	Primary T cells from cord blood	blood
46	chr19:21749800-21750600	Weak transcription	Liver	Liver
47	chr19:21749800-21750600	Enhancers	Thymus	Thymus
48	chr19:21749800-21752800	Active TSS	Duodenum Mucosa	Duodenum
49	chr19:21750000-21750200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr19:21750000-21750600	Weak transcription	Primary T helper cells fromperipheralblood	blood

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