Variant report

Variant	esv1847388
Chromosome Location	chr19:40367831-40408856
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1023)
CpG islands
(count:1160)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1023 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr19:40388564-40388584	HepG2	liver:	n/a	n/a
2	ARID3A	chr19:40372209-40372386	HepG2	liver:	n/a	n/a
3	ARID3A	chr19:40377903-40377918	HepG2	liver:	n/a	n/a
4	ATF1	chr19:40372283-40372483	K562	blood:	n/a	n/a
5	ATF2	chr19:40372203-40372491	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF2	chr19:40372199-40372449	H1-hESC	embryonic stem cell:	n/a	n/a
7	BCL11A	chr19:40372229-40372663	GM12878	blood:	n/a	chr19:40372417-40372430
8	BCL11A	chr19:40404210-40404647	GM12878	blood:	n/a	chr19:40404401-40404414
9	BHLHE40	chr19:40404194-40404362	GM12878	blood:	n/a	n/a
10	BHLHE40	chr19:40393689-40394027	HepG2	liver:	n/a	n/a
11	BHLHE40	chr19:40378004-40378342	HepG2	liver:	n/a	n/a
12	BHLHE40	chr19:40372341-40372378	HepG2	liver:	n/a	n/a
13	BHLHE40	chr19:40372310-40372375	K562	blood:	n/a	n/a
14	BHLHE40	chr19:40372174-40372382	GM12878	blood:	n/a	n/a
15	CBX3	chr19:40372094-40372533	K562	blood:	n/a	n/a
16	CBX3	chr19:40404078-40404473	K562	blood:	n/a	n/a
17	CEBPB	chr19:40402703-40402726	H1-hESC	embryonic stem cell:	n/a	chr19:40402707-40402718
18	CEBPB	chr19:40402571-40402768	K562	blood:	n/a	chr19:40402707-40402718
19	CEBPB	chr19:40388532-40388555	Hela-S3	cervix:	n/a	n/a
20	CEBPB	chr19:40402564-40402888	HepG2	liver:	n/a	chr19:40402707-40402718
21	CEBPB	chr19:40369307-40369516	HepG2	liver:	n/a	n/a
22	CEBPB	chr19:40402580-40402849	IMR90	lung:	n/a	chr19:40402707-40402718
23	CEBPB	chr19:40402641-40402841	A549	lung:	n/a	chr19:40402707-40402718
24	CHD2	chr19:40388541-40388748	H1-hESC	embryonic stem cell:	n/a	n/a
25	CHD2	chr19:40404120-40404312	GM12878	blood:	n/a	n/a
26	CTCF	chr19:40372280-40372430	GM12872	blood:	n/a	n/a
27	CTCF	chr19:40404099-40404559	A549	lung:	n/a	n/a
28	CTCF	chr19:40388720-40388870	HBMEC	blood vessel:	n/a	n/a
29	CTCF	chr19:40404183-40404466	A549	lung:	n/a	n/a
30	CTCF	chr19:40404260-40404410	WI-38	lung:	n/a	n/a
31	CTCF	chr19:40404099-40404566	GM12878	blood:	n/a	n/a
32	CTCF	chr19:40372241-40372447	ProgFib	skin:	n/a	n/a
33	CTCF	chr19:40404460-40404610	HRE	kidney:	n/a	n/a
34	CTCF	chr19:40388501-40388692	Hela-S3	cervix:	n/a	n/a
35	CTCF	chr19:40372122-40372678	K562	blood:	n/a	chr19:40372450-40372463
36	CTCF	chr19:40398082-40398446	K562	blood:	n/a	n/a
37	CTCF	chr19:40404218-40404447	Hela-S3	cervix:	n/a	n/a
38	CTCF	chr19:40404260-40404410	HFF-Myc	foreskin:	n/a	n/a
39	CTCF	chr19:40388270-40388904	A549	lung:	n/a	n/a
40	CTCF	chr19:40402280-40402386	GM13976	blood:	n/a	n/a
41	CTCF	chr19:40388520-40388670	HMEC	breast:	n/a	n/a
42	CTCF	chr19:40388733-40388735	LNCaP	prostate:	n/a	n/a
43	CTCF	chr19:40404240-40404390	GM12875	blood:	n/a	n/a
44	CTCF	chr19:40404220-40404370	AG10803	skin:	n/a	n/a
45	CTCF	chr19:40372640-40372790	GM06990	blood:	n/a	n/a
46	CTCF	chr19:40404226-40404444	H1-hESC	embryonic stem cell:	n/a	n/a
47	CTCF	chr19:40372260-40372410	NHEK	skin:	n/a	n/a
48	CTCF	chr19:40404231-40404659	HCT-116	colon:	n/a	n/a
49	CTCF	chr19:40404240-40404390	HMEC	breast:	n/a	n/a
50	CTCF	chr19:40388473-40388691	GM12878	blood:	n/a	n/a

(count:1160 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:40399454-40399504	GM12891	blood:	n/a
2	chr19:40399454-40399504	GM12891	blood:	n/a
3	chr19:40391320-40391370	Caco-2	colon:	n/a
4	chr19:40388677-40388727	HCPEpiC	choroid plexus:	n/a
5	chr19:40388677-40388727	Hepatocyte	liver:	n/a
6	chr19:40397977-40398027	ProgFib	skin:	n/a
7	chr19:40396032-40396082	HepG2	liver:	n/a
8	chr19:40399454-40399504	BE2_C	brain:	n/a
9	chr19:40392568-40392618	AoSMC	blood vessel:	n/a
10	chr19:40396538-40396588	PFSK-1	brain:	n/a
11	chr19:40396032-40396082	HL-60	blood:	n/a
12	chr19:40396032-40396082	MCF-7	breast:	n/a
13	chr19:40377434-40377484	PFSK-1	brain:	n/a
14	chr19:40368363-40368413	Caco-2	colon:	n/a
15	chr19:40380853-40380903	GM19239	blood:	n/a
16	chr19:40372977-40373027	NT2-D1	testis:	n/a
17	chr19:40393119-40393169	LNCaP	prostate:	n/a
18	chr19:40399454-40399504	HepG2	liver:	n/a
19	chr19:40396538-40396588	GM06990	blood:	n/a
20	chr19:40398384-40398434	MCF10A-Er-Src	breast:	n/a
21	chr19:40380853-40380903	Hela-S3	cervix:	n/a
22	chr19:40377434-40377484	GM19239	blood:	n/a
23	chr19:40368830-40368880	Hela-S3	cervix:	n/a
24	chr19:40372977-40373027	HNPCEpiC	eye:	n/a
25	chr19:40396032-40396082	H1-hESC	embryonic stem cell:	embryo
26	chr19:40396538-40396588	AG09309	skin:	n/a
27	chr19:40393119-40393169	MCF10A-Er-Src	breast:	n/a
28	chr19:40379680-40379730	HNPCEpiC	eye:	n/a
29	chr19:40375973-40376023	IMR90	lung:	fetal
30	chr19:40377434-40377484	SK-N-SH_RA	brain:	n/a
31	chr19:40393119-40393169	GM19239	blood:	n/a
32	chr19:40377434-40377484	SK-N-MC	brain:	n/a
33	chr19:40396032-40396082	NT2-D1	testis:	n/a
34	chr19:40397977-40398027	HEK293	kidney:	embryo
35	chr19:40408707-40408757	BE2_C	brain:	n/a
36	chr19:40372977-40373027	U87	brain:	n/a
37	chr19:40399454-40399504	SK-N-MC	brain:	n/a
38	chr19:40397977-40398027	U87	brain:	n/a
39	chr19:40375973-40376023	AG09319	gingival:	n/a
40	chr19:40399454-40399504	NHBE	bronchial:	n/a
41	chr19:40379680-40379730	NHBE	bronchial:	n/a
42	chr19:40368830-40368880	HEK293	kidney:	embryo
43	chr19:40396032-40396082	CMK	blood:	n/a
44	chr19:40380853-40380903	MCF-7	breast:	n/a
45	chr19:40376883-40376933	Jurkat	blood:	n/a
46	chr19:40392568-40392618	HUVEC	blood vessel:	n/a
47	chr19:40398384-40398434	HCPEpiC	choroid plexus:	n/a
48	chr19:40375973-40376023	HPAEpiC	pulmonary alveolar:	n/a
49	chr19:40398384-40398434	HL-60	blood:	n/a
50	chr19:40393119-40393169	SK-N-SH	brain:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr19:40371890..40372866-chr19:40388384..40389142,3	MCF-7	breast:
2	chr19:40371890..40372866-chr19:40388384..40389142,3	MCF-7	breast:
3	chr19:40403844..40404724-chr19:40476336..40477181,3	MCF-7	breast:
4	chr19:40371880..40372846-chr19:40476486..40477439,2	MCF-7	breast:

No data

Variant related genes	Relation type
FCGBP	TF binding region
FCGBP	CpG island
ENSG00000013275	chromatin interactions

Extended variants
information (count: 1613 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:1613 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574080944	chr19:40367831-40367832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs144596519	chr19:40367856-40367857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs6508920	chr19:40367862-40367863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs578213202	chr19:40367864-40367865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs545740519	chr19:40367873-40367874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs60790106	chr19:40367883-40367884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs376047185	chr19:40367889-40367890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs148109128	chr19:40367894-40367895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs145774357	chr19:40367900-40367901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs73558346	chr19:40367908-40367909	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs112745668	chr19:40367926-40367927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs371977605	chr19:40367927-40367928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs200701971	chr19:40367938-40367939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs116879193	chr19:40367964-40367965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs531446903	chr19:40367969-40367970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs549602412	chr19:40367973-40367974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs117352937	chr19:40367981-40367982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs571155541	chr19:40368004-40368005	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs545417585	chr19:40368022-40368023	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs563547539	chr19:40368029-40368030	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs189560768	chr19:40368038-40368039	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs547155314	chr19:40368047-40368048	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs370135918	chr19:40368048-40368049	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs60369807	chr19:40368054-40368055	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs73930666	chr19:40368138-40368139	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs112816637	chr19:40368144-40368145	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs555740914	chr19:40368159-40368160	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs181510529	chr19:40368166-40368167	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs117105665	chr19:40368168-40368169	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs530883336	chr19:40368171-40368172	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs117274902	chr19:40368180-40368181	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs183580509	chr19:40368197-40368198	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs560598436	chr19:40368211-40368212	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs556671004	chr19:40368251-40368252	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs36035081	chr19:40368267-40368268	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs141933551	chr19:40368268-40368269	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs578232801	chr19:40368274-40368275	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs62106924	chr19:40368280-40368281	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs146255832	chr19:40368321-40368322	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs74540349	chr19:40368330-40368331	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs199876095	chr19:40368331-40368332	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs560643986	chr19:40368336-40368337	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs572782761	chr19:40368346-40368347	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs200140260	chr19:40368356-40368357	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs367948062	chr19:40368357-40368358	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs146289015	chr19:40368358-40368359	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs542914207	chr19:40368366-40368367	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs75204711	chr19:40368376-40368377	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs76288738	chr19:40368391-40368392	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs28472548	chr19:40368395-40368396	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

Disease	PMID	Source
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	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
Adenoid cystic carcinoma	18698036	CNVD
Ductal carcinoma	22052326	CNVD
Congenital nephrotic syndrome	18421352	CNVD
Astrocytoma	17934521	CNVD
Leukemia	17361228	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Breast cancer	21858162	CNVD
Breast cancer	17603634	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Oligodendroglial tumors	17285580	CNVD
renal disease	20603712	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21364760	CNVD
Invasive pancreatic ductal carcinoma	18765526	CNVD
Rhabdomyosarcoma	16790082	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Ovarian neoplasms	16753589	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Lung cancer	21569311	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Gastric cancer	18160780	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	19029149	CNVD
Breast cancer	20409316	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Multiple myeloma	16616336	CNVD
Renal cell carcinoma	18765545	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Genital abnormality	22378287	CNVD
Hypospadia	22378287	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Astrocytoma	22246337	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:202 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40349800-40369000	Weak transcription	Brain Anterior Caudate	brain
2	chr19:40350400-40372200	Weak transcription	Dnd41	blood
3	chr19:40352000-40372600	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr19:40352400-40372400	Weak transcription	Fetal Intestine Large	intestine
5	chr19:40354200-40370800	Weak transcription	Fetal Brain Female	brain
6	chr19:40354600-40372200	Weak transcription	HepG2	liver
7	chr19:40355200-40372200	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr19:40358400-40372200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr19:40359800-40369600	Weak transcription	Fetal Muscle Leg	muscle
10	chr19:40361000-40372200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr19:40361200-40374000	Weak transcription	Pancreas	Pancrea
12	chr19:40364400-40372200	Weak transcription	Right Atrium	heart
13	chr19:40364400-40372400	Weak transcription	Gastric	stomach
14	chr19:40364600-40369200	Weak transcription	Colonic Mucosa	Colon
15	chr19:40365800-40372200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr19:40365800-40372600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr19:40366000-40369000	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr19:40366200-40372800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr19:40366600-40372400	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr19:40367000-40368400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr19:40367000-40368800	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr19:40367000-40369000	Weak transcription	Stomach Mucosa	stomach
23	chr19:40367000-40372400	Weak transcription	Fetal Muscle Trunk	muscle
24	chr19:40367000-40373400	Weak transcription	Fetal Stomach	stomach
25	chr19:40367200-40368000	Weak transcription	Fetal Intestine Small	intestine
26	chr19:40367200-40368600	Weak transcription	Primary T cells from cord blood	blood
27	chr19:40367200-40368800	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr19:40368000-40371400	Strong transcription	Fetal Intestine Small	intestine
29	chr19:40368400-40369000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr19:40368600-40371200	Strong transcription	Primary T cells from cord blood	blood
31	chr19:40368800-40369800	Strong transcription	Rectal Mucosa Donor 31	rectum
32	chr19:40368800-40371200	Strong transcription	Sigmoid Colon	Sigmoid Colon
33	chr19:40369000-40369200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr19:40369000-40369400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
35	chr19:40369000-40369800	Strong transcription	Rectal Mucosa Donor 29	rectum
36	chr19:40369000-40370000	Strong transcription	Stomach Mucosa	stomach
37	chr19:40369200-40369400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr19:40369200-40369400	Active TSS	Brain Anterior Caudate	brain
39	chr19:40369200-40369800	Strong transcription	Colonic Mucosa	Colon
40	chr19:40369800-40375800	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr19:40369800-40402600	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr19:40369800-40404000	Weak transcription	Colonic Mucosa	Colon
43	chr19:40370000-40371600	Weak transcription	Stomach Mucosa	stomach
44	chr19:40371200-40402800	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr19:40371200-40404000	Weak transcription	Primary T cells from cord blood	blood
46	chr19:40371400-40391000	Weak transcription	Fetal Intestine Small	intestine
47	chr19:40372200-40372400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
48	chr19:40372200-40372400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr19:40372200-40372400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr19:40372200-40372400	ZNF genes & repeats	Right Atrium	heart

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