Variant report

Variant	esv3407422
Chromosome Location	chr19:21201712-21203910
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:465)
CpG islands
(count:428)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:465 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr19:21203172-21203518	K562	blood:	n/a	n/a
2	ARID3A	chr19:21203103-21203905	HepG2	liver:	n/a	n/a
3	ATF1	chr19:21203206-21203570	K562	blood:	n/a	n/a
4	ATF2	chr19:21203137-21203776	GM12878	blood:	n/a	n/a
5	BACH1	chr19:21203338-21203360	K562	blood:	n/a	n/a
6	BACH1	chr19:21203736-21203976	H1-hESC	embryonic stem cell:	n/a	n/a
7	BCLAF1	chr19:21203409-21203891	GM12878	blood:	n/a	n/a
8	BCLAF1	chr19:21203607-21204001	GM12878	blood:	n/a	n/a
9	BHLHE40	chr19:21203109-21203898	GM12878	blood:	n/a	n/a
10	BHLHE40	chr19:21203279-21203977	K562	blood:	n/a	n/a
11	BRCA1	chr19:21203325-21203834	Hela-S3	cervix:	n/a	n/a
12	CBX3	chr19:21203108-21204025	K562	blood:	n/a	n/a
13	CCNT2	chr19:21203366-21203820	K562	blood:	n/a	chr19:21203640-21203649
14	CEBPB	chr19:21203584-21203778	H1-hESC	embryonic stem cell:	n/a	n/a
15	CEBPB	chr19:21203180-21203905	Hela-S3	cervix:	n/a	n/a
16	CEBPZ	chr19:21203290-21203478	HepG2	liver:	n/a	n/a
17	CHD1	chr19:21203465-21203640	H1-hESC	embryonic stem cell:	n/a	n/a
18	CHD1	chr19:21203402-21203999	GM12878	blood:	n/a	n/a
19	CHD2	chr19:21203127-21204037	GM12878	blood:	n/a	n/a
20	CHD2	chr19:21203237-21203895	K562	blood:	n/a	n/a
21	CHD2	chr19:21203196-21203974	Hela-S3	cervix:	n/a	n/a
22	CHD2	chr19:21203202-21203946	H1-hESC	embryonic stem cell:	n/a	n/a
23	CHD2	chr19:21203277-21203560	HepG2	liver:	n/a	n/a
24	CREB1	chr19:21203179-21203576	A549	lung:	n/a	n/a
25	CREB1	chr19:21203090-21203953	HepG2	liver:	n/a	n/a
26	CTBP2	chr19:21203155-21203956	H1-hESC	embryonic stem cell:	n/a	n/a
27	CTCF	chr19:21203840-21203990	HPF	lung:	n/a	n/a
28	CTCF	chr19:21203840-21203990	NHEK	skin:	n/a	n/a
29	CTCF	chr19:21203700-21203850	GM12873	blood:	n/a	n/a
30	CTCF	chr19:21203780-21203930	NHLF	lung:	n/a	n/a
31	CTCF	chr19:21203238-21203273	Spleen_OC	spleen:	n/a	n/a
32	CTCF	chr19:21203845-21203923	GM19238	blood:	n/a	n/a
33	CTCF	chr19:21203734-21203898	K562	blood:	n/a	n/a
34	CTCF	chr19:21203720-21203870	HMEC	breast:	n/a	n/a
35	CTCF	chr19:21203760-21203910	AG09319	gingival:	n/a	n/a
36	CTCF	chr19:21203849-21203913	GM12878	blood:	n/a	n/a
37	CTCF	chr19:21203820-21203970	SK-N-SH_RA	brain:	n/a	n/a
38	CTCF	chr19:21203800-21203950	GM12869	blood:	n/a	n/a
39	CTCF	chr19:21203760-21203910	SK-N-SH_RA	brain:	n/a	n/a
40	CTCF	chr19:21203825-21203910	MCF-7	breast:	n/a	n/a
41	CTCF	chr19:21203761-21203892	Fibrobl	skin:	n/a	n/a
42	CTCF	chr19:21203760-21203910	NHDF-neo	bronchial:	n/a	n/a
43	CTCF	chr19:21203855-21203895	MCF-7	breast:	n/a	n/a
44	CTCF	chr19:21203791-21203852	MCF-7	breast:	n/a	n/a
45	CTCF	chr19:21203720-21203870	AG04449	skin:	n/a	n/a
46	CTCF	chr19:21203340-21203490	NHLF	lung:	n/a	n/a
47	CTCF	chr19:21203829-21203878	MCF-7	breast:	n/a	n/a
48	CTCF	chr19:21203882-21203884	MCF-7	breast:	n/a	n/a
49	CTCF	chr19:21203760-21203931	MCF-7	breast:	n/a	n/a
50	CTCF	chr19:21203880-21203893	GM12891	blood:	n/a	n/a

(count:428 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:21203359-21203409	AG04449	skin:	fetal
2	chr19:21203359-21203409	AG04449	skin:	fetal
3	chr19:21203493-21203543	U87	brain:	n/a
4	chr19:21203444-21203494	PFSK-1	brain:	n/a
5	chr19:21203723-21203773	AG09309	skin:	n/a
6	chr19:21203403-21203453	HPAEpiC	pulmonary alveolar:	n/a
7	chr19:21203403-21203453	U87	brain:	n/a
8	chr19:21203469-21203519	AG04450	lung:	fetal
9	chr19:21203403-21203453	CMK	blood:	n/a
10	chr19:21203444-21203494	HIPEpiC	eye:	n/a
11	chr19:21203469-21203519	HCM	heart:	n/a
12	chr19:21203469-21203519	IMR90	lung:	fetal
13	chr19:21203723-21203773	SK-N-SH	brain:	n/a
14	chr19:21203723-21203773	AG10803	skin:	n/a
15	chr19:21203417-21203467	GM06990	blood:	n/a
16	chr19:21203444-21203494	PrEC	prostate:	n/a
17	chr19:21203493-21203543	MCF10A-Er-Src	breast:	n/a
18	chr19:21203444-21203494	HCM	heart:	n/a
19	chr19:21203469-21203519	U87	brain:	n/a
20	chr19:21203417-21203467	IMR90	lung:	fetal
21	chr19:21203403-21203453	SK-N-MC	brain:	n/a
22	chr19:21203403-21203453	HNPCEpiC	eye:	n/a
23	chr19:21203493-21203543	HNPCEpiC	eye:	n/a
24	chr19:21203723-21203773	GM12878	blood:	n/a
25	chr19:21203403-21203453	A549	lung:	n/a
26	chr19:21203403-21203453	HAEpiC	amniotic membrane:	n/a
27	chr19:21203444-21203494	Hela-S3	cervix:	n/a
28	chr19:21203403-21203453	SK-N-SH_RA	brain:	n/a
29	chr19:21203493-21203543	HRE	kidney:	n/a
30	chr19:21203469-21203519	HRCEpiC	kidney:	n/a
31	chr19:21203359-21203409	HCM	heart:	n/a
32	chr19:21203723-21203773	HAEpiC	amniotic membrane:	n/a
33	chr19:21203469-21203519	SK-N-MC	brain:	n/a
34	chr19:21203417-21203467	HPAEpiC	pulmonary alveolar:	n/a
35	chr19:21203493-21203543	T-47D	breast:	n/a
36	chr19:21203417-21203467	HL-60	blood:	n/a
37	chr19:21203417-21203467	HRE	kidney:	n/a
38	chr19:21203723-21203773	GM06990	blood:	n/a
39	chr19:21203403-21203453	HCF	heart:	n/a
40	chr19:21203417-21203467	AG04450	lung:	fetal
41	chr19:21203403-21203453	HepG2	liver:	n/a
42	chr19:21203403-21203453	HCPEpiC	choroid plexus:	n/a
43	chr19:21203723-21203773	HepG2	liver:	n/a
44	chr19:21203417-21203467	SK-N-SH_RA	brain:	n/a
45	chr19:21203723-21203773	ProgFib	skin:	n/a
46	chr19:21203469-21203519	SK-N-SH	brain:	n/a
47	chr19:21203444-21203494	HRCEpiC	kidney:	n/a
48	chr19:21203469-21203519	A549	lung:	n/a
49	chr19:21203723-21203773	SAEC	small airway:	n/a
50	chr19:21203403-21203453	AG09319	gingival:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:21203226..21204874-chr19:21207837..21209473,2	MCF-7	breast:
2	chr19:21203269..21205162-chr19:21263863..21266449,2	MCF-7	breast:

No data

Variant related genes	Relation type
ZNF430	TF binding region
ZNF430	CpG island
ENSG00000160352	chromatin interactions
ENSG00000271598	chromatin interactions

Extended variants
information (count: 106 )
Associated
traits (count: 38 )

Variant overlapped rSNPs/rCNVs (count:106 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559525801	chr19:21201714-21201715	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs190241528	chr19:21201766-21201767	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs373387165	chr19:21201806-21201807	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs532443581	chr19:21201859-21201860	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs77549598	chr19:21201950-21201951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs112813326	chr19:21201954-21201955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs182791342	chr19:21201959-21201960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs73546304	chr19:21201988-21201989	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs550033028	chr19:21202130-21202131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs569928648	chr19:21202173-21202174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs538879888	chr19:21202256-21202257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs558701523	chr19:21202262-21202263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs371344462	chr19:21202271-21202272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs368071010	chr19:21202360-21202361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs373169521	chr19:21202366-21202367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs375102516	chr19:21202392-21202393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs188564681	chr19:21202399-21202400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs371595047	chr19:21202403-21202404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs376593027	chr19:21202405-21202406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs369019296	chr19:21202415-21202416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs371612288	chr19:21202425-21202426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs191460189	chr19:21202448-21202449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs377297337	chr19:21202455-21202456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs183730089	chr19:21202459-21202460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs369852644	chr19:21202467-21202468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs369843194	chr19:21202482-21202483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs373407035	chr19:21202493-21202494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs377092686	chr19:21202514-21202515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs370145751	chr19:21202522-21202523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs373455680	chr19:21202530-21202531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs188610052	chr19:21202559-21202560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs377579970	chr19:21202561-21202562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs111220015	chr19:21202567-21202568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs370551685	chr19:21202577-21202578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs111220090	chr19:21202594-21202595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs373697105	chr19:21202597-21202598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs376671789	chr19:21202611-21202612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs369480387	chr19:21202640-21202641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs183610372	chr19:21202701-21202702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs186798612	chr19:21202751-21202752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs191618632	chr19:21202755-21202756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs375675657	chr19:21202772-21202773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs372734097	chr19:21202781-21202782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs368187877	chr19:21202783-21202784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs371399356	chr19:21202788-21202789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs113613598	chr19:21202790-21202791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs113183924	chr19:21202791-21202792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs374578265	chr19:21202835-21202836	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs184891131	chr19:21202836-21202837	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs113805626	chr19:21202845-21202846	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:175 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21192200-21203000	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr19:21192400-21203000	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr19:21192400-21203400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr19:21192600-21203000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr19:21202800-21203000	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr19:21202800-21203000	Enhancers	Primary neutrophils fromperipheralblood	blood
7	chr19:21202800-21203000	Enhancers	Primary T cells fromperipheralblood	blood
8	chr19:21202800-21203000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr19:21202800-21203000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr19:21202800-21203000	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr19:21202800-21203000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
12	chr19:21202800-21203000	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr19:21202800-21203000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr19:21202800-21203000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr19:21202800-21203000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr19:21202800-21203000	Enhancers	Fetal Thymus	thymus
17	chr19:21202800-21203000	Enhancers	Thymus	Thymus
18	chr19:21202800-21203000	Active TSS	Dnd41	blood
19	chr19:21202800-21203200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr19:21202800-21204200	Active TSS	Duodenum Mucosa	Duodenum
21	chr19:21202800-21204400	Active TSS	Brain Angular Gyrus	brain
22	chr19:21202800-21204600	Active TSS	Skeletal Muscle Male	skeletal muscle
23	chr19:21202800-21204800	Active TSS	Breast Myoepithelial Primary Cells	Breast
24	chr19:21202800-21204800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr19:21202800-21204800	Active TSS	Stomach Smooth Muscle	stomach
26	chr19:21203000-21203400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
27	chr19:21203000-21203400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
28	chr19:21203000-21203400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
29	chr19:21203000-21203400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
30	chr19:21203000-21203400	Active TSS	Primary T helper naive cells fromperipheralblood	blood
31	chr19:21203000-21203400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
32	chr19:21203000-21203400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
33	chr19:21203000-21203400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
34	chr19:21203000-21203400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
35	chr19:21203000-21203400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
36	chr19:21203000-21203400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
37	chr19:21203000-21203400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr19:21203000-21203400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr19:21203000-21203400	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
40	chr19:21203000-21203400	Active TSS	Liver	Liver
41	chr19:21203000-21203400	Flanking Active TSS	Fetal Thymus	thymus
42	chr19:21203000-21203400	Flanking Active TSS	Thymus	Thymus
43	chr19:21203000-21203400	Flanking Active TSS	Dnd41	blood
44	chr19:21203000-21203400	Active TSS	HepG2	liver
45	chr19:21203000-21203600	Active TSS	Skeletal Muscle Female	skeletal muscle
46	chr19:21203000-21203800	Active TSS	Primary hematopoietic stem cells short term culture	blood
47	chr19:21203000-21203800	Active TSS	Monocytes-CD14+_RO01746	blood
48	chr19:21203000-21204000	Active TSS	Primary B cells from cord blood	blood
49	chr19:21203000-21204000	Active TSS	Primary B cells from peripheral blood	blood
50	chr19:21203000-21204000	Active TSS	Primary T killer naive cells fromperipheralblood	blood

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