Variant report

Variant	esv1823410
Chromosome Location	chr19:40377251-40399095
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:358)
CpG islands
(count:733)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:358 , 50 per page) page: 1 2 3 4 5 6 7 8

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	chr19:40377903-40377918	HepG2	liver:	n/a	n/a
3	BHLHE40	chr19:40378004-40378342	HepG2	liver:	n/a	n/a
4	BHLHE40	chr19:40393689-40394027	HepG2	liver:	n/a	n/a
5	CEBPB	chr19:40388532-40388555	Hela-S3	cervix:	n/a	n/a
6	CHD2	chr19:40388541-40388748	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTCF	chr19:40388695-40388696	Medullo	brain:	n/a	n/a
8	CTCF	chr19:40387724-40387805	GM10266	blood:	n/a	n/a
9	CTCF	chr19:40388540-40388690	GM12870	blood:	n/a	n/a
10	CTCF	chr19:40388500-40388650	HRPEpiC	eye:	n/a	n/a
11	CTCF	chr19:40388490-40388697	MCF-7	breast:	n/a	n/a
12	CTCF	chr19:40388540-40388690	HFF-Myc	foreskin:	n/a	n/a
13	CTCF	chr19:40382647-40382771	Kidney_OC	kidney:	n/a	n/a
14	CTCF	chr19:40397980-40398567	K562	blood:	n/a	n/a
15	CTCF	chr19:40388503-40388714	Pancreas_OC	pancreas:	n/a	n/a
16	CTCF	chr19:40388500-40388650	HMEC	breast:	n/a	n/a
17	CTCF	chr19:40388507-40388677	HepG2	liver:	n/a	n/a
18	CTCF	chr19:40388478-40388688	SK-N-SH_RA	brain:	n/a	n/a
19	CTCF	chr19:40388740-40388890	HCM	heart:	n/a	n/a
20	CTCF	chr19:40388491-40388735	GM13977	blood:	n/a	n/a
21	CTCF	chr19:40388500-40388650	AG09319	gingival:	n/a	n/a
22	CTCF	chr19:40388500-40388650	HEK293	kidney:	n/a	n/a
23	CTCF	chr19:40388500-40388650	K562	blood:	n/a	n/a
24	CTCF	chr19:40388500-40388650	GM12874	blood:	n/a	n/a
25	CTCF	chr19:40388520-40388670	WI-38	lung:	n/a	n/a
26	CTCF	chr19:40388465-40388964	A549	lung:	n/a	n/a
27	CTCF	chr19:40398082-40398446	K562	blood:	n/a	n/a
28	CTCF	chr19:40388487-40388722	LNCaP	prostate:	n/a	n/a
29	CTCF	chr19:40388540-40388690	GM12873	blood:	n/a	n/a
30	CTCF	chr19:40388733-40388735	LNCaP	prostate:	n/a	n/a
31	CTCF	chr19:40388540-40388690	HRPEpiC	eye:	n/a	n/a
32	CTCF	chr19:40396918-40397017	GM10248	blood:	n/a	n/a
33	CTCF	chr19:40388460-40388610	GM12864	blood:	n/a	n/a
34	CTCF	chr19:40388500-40388650	GM12866	blood:	n/a	n/a
35	CTCF	chr19:40388540-40388690	MCF-7	breast:	n/a	n/a
36	CTCF	chr19:40388502-40388779	GM10266	blood:	n/a	n/a
37	CTCF	chr19:40396862-40396935	LNCaP	prostate:	n/a	n/a
38	CTCF	chr19:40388520-40388670	HA-sp	spinal cord:	n/a	n/a
39	CTCF	chr19:40392876-40392947	GM13976	blood:	n/a	n/a
40	CTCF	chr19:40388540-40388690	GM12869	blood:	n/a	n/a
41	CTCF	chr19:40388540-40388690	HFF	foreskin:	n/a	n/a
42	CTCF	chr19:40382398-40382766	K562	blood:	n/a	n/a
43	CTCF	chr19:40388510-40388693	MCF-7	breast:	n/a	n/a
44	CTCF	chr19:40398384-40398389	GM20000	blood:	n/a	n/a
45	CTCF	chr19:40388500-40388650	BJ	skin:	n/a	n/a
46	CTCF	chr19:40388500-40388650	WI-38	lung:	n/a	n/a
47	CTCF	chr19:40388460-40388610	GM12869	blood:	n/a	n/a
48	CTCF	chr19:40388500-40388650	AG04449	skin:	n/a	n/a
49	CTCF	chr19:40388720-40388870	HBMEC	blood vessel:	n/a	n/a
50	CTCF	chr19:40388500-40388650	NHLF	lung:	n/a	n/a

(count:733 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:40397977-40398027	HCF	heart:	n/a
2	chr19:40397977-40398027	HCF	heart:	n/a
3	chr19:40380319-40380369	Hepatocyte	liver:	n/a
4	chr19:40396538-40396588	HCPEpiC	choroid plexus:	n/a
5	chr19:40377434-40377484	BE2_C	brain:	n/a
6	chr19:40398384-40398434	HIPEpiC	eye:	n/a
7	chr19:40398384-40398434	PFSK-1	brain:	n/a
8	chr19:40379680-40379730	SK-N-SH_RA	brain:	n/a
9	chr19:40377434-40377484	SKMC	muscle:	n/a
10	chr19:40391320-40391370	NB4	blood:	n/a
11	chr19:40380319-40380369	GM12878	blood:	n/a
12	chr19:40392568-40392618	HEEpiC	esophagus:	n/a
13	chr19:40379680-40379730	ECC-1	luminal epithelium:	n/a
14	chr19:40397977-40398027	SK-N-SH_RA	brain:	n/a
15	chr19:40380319-40380369	HL-60	blood:	n/a
16	chr19:40391320-40391370	T-47D	breast:	n/a
17	chr19:40392568-40392618	HCF	heart:	n/a
18	chr19:40391320-40391370	Caco-2	colon:	n/a
19	chr19:40379680-40379730	SAEC	small airway:	n/a
20	chr19:40398384-40398434	BE2_C	brain:	n/a
21	chr19:40393119-40393169	NHBE	bronchial:	n/a
22	chr19:40397977-40398027	GM06990	blood:	n/a
23	chr19:40393119-40393169	H1-hESC	embryonic stem cell:	embryo
24	chr19:40398384-40398434	SK-N-MC	brain:	n/a
25	chr19:40377434-40377484	GM12878	blood:	n/a
26	chr19:40397977-40398027	PANC-1	pancreas:	n/a
27	chr19:40396032-40396082	BJ	skin:	n/a
28	chr19:40377434-40377484	NB4	blood:	n/a
29	chr19:40393119-40393169	BJ	skin:	n/a
30	chr19:40379680-40379730	NB4	blood:	n/a
31	chr19:40396538-40396588	SKMC	muscle:	n/a
32	chr19:40380853-40380903	H1-hESC	embryonic stem cell:	embryo
33	chr19:40397977-40398027	HPAEpiC	pulmonary alveolar:	n/a
34	chr19:40377434-40377484	CMK	blood:	n/a
35	chr19:40391320-40391370	NH-A	brain:	n/a
36	chr19:40398384-40398434	SK-N-SH_RA	brain:	n/a
37	chr19:40396032-40396082	T-47D	breast:	n/a
38	chr19:40396538-40396588	HMEC	breast:	n/a
39	chr19:40398384-40398434	GM19239	blood:	n/a
40	chr19:40392568-40392618	HRCEpiC	kidney:	n/a
41	chr19:40379680-40379730	MCF-7	breast:	n/a
42	chr19:40397977-40398027	U87	brain:	n/a
43	chr19:40396032-40396082	GM12892	blood:	n/a
44	chr19:40393119-40393169	HNPCEpiC	eye:	n/a
45	chr19:40388677-40388727	HCF	heart:	n/a
46	chr19:40388677-40388727	NB4	blood:	n/a
47	chr19:40379680-40379730	A549	lung:	n/a
48	chr19:40380853-40380903	HRE	kidney:	n/a
49	chr19:40392568-40392618	AG04450	lung:	fetal
50	chr19:40391320-40391370	AoSMC	blood vessel:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:40371890..40372866-chr19:40388384..40389142,3	MCF-7	breast:

No data

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

Extended variants
information (count: 606 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:606 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573563371	chr19:40377265-40377266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs535477754	chr19:40377330-40377331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs148639283	chr19:40377420-40377421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs556890951	chr19:40377435-40377436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs575344655	chr19:40377536-40377537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs200119177	chr19:40377584-40377585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs371548260	chr19:40377587-40377588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs62108861	chr19:40377602-40377603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs545972335	chr19:40377904-40377905	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs375955361	chr19:40377918-40377919	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs79383160	chr19:40378138-40378139	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs62108862	chr19:40378192-40378193	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs372393812	chr19:40378400-40378401	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs113904008	chr19:40378578-40378579	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs564748892	chr19:40378614-40378615	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs569047960	chr19:40379280-40379281	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs548964369	chr19:40379760-40379761	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs540957996	chr19:40379761-40379762	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs562385552	chr19:40379886-40379887	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs529585138	chr19:40380009-40380010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs550602943	chr19:40380164-40380165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs2542329	chr19:40380245-40380246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs374131117	chr19:40380286-40380287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs2542330	chr19:40380312-40380313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs368003117	chr19:40380334-40380335	Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
26	rs562455865	chr19:40380338-40380339	Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
27	rs567290425	chr19:40380344-40380345	Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
28	rs533092536	chr19:40380370-40380371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs551165464	chr19:40380403-40380404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs148126560	chr19:40380693-40380694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs112181210	chr19:40380761-40380762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs566692480	chr19:40380785-40380786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs183885815	chr19:40380811-40380812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs548738383	chr19:40380813-40380814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs567224480	chr19:40380841-40380842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs537707986	chr19:40380870-40380871	Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
37	rs556976909	chr19:40381055-40381056	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs568908918	chr19:40381120-40381121	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs112077421	chr19:40381129-40381130	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs539954061	chr19:40381148-40381149	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs557957769	chr19:40381338-40381339	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs144449244	chr19:40381392-40381393	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs540494287	chr19:40381400-40381401	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs555955069	chr19:40381406-40381407	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs72480738	chr19:40381411-40381412	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs62108863	chr19:40381421-40381422	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs145281255	chr19:40381428-40381429	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs544915126	chr19:40381446-40381447	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs562493747	chr19:40381487-40381488	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs62108864	chr19:40381533-40381534	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:62)

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

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40369800-40402600	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr19:40369800-40404000	Weak transcription	Colonic Mucosa	Colon
3	chr19:40371200-40402800	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr19:40371200-40404000	Weak transcription	Primary T cells from cord blood	blood
5	chr19:40371400-40391000	Weak transcription	Fetal Intestine Small	intestine
6	chr19:40372800-40377800	Weak transcription	HepG2	liver
7	chr19:40377800-40378000	Enhancers	HepG2	liver
8	chr19:40388200-40389600	Enhancers	HepG2	liver
9	chr19:40388400-40388800	Enhancers	Primary T cells fromperipheralblood	blood
10	chr19:40388400-40388800	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr19:40388400-40388800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
12	chr19:40388400-40388800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr19:40388800-40399000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr19:40389400-40389800	Enhancers	Fetal Muscle Trunk	muscle
15	chr19:40389600-40391200	Weak transcription	HepG2	liver
16	chr19:40391000-40392000	Strong transcription	Fetal Intestine Small	intestine
17	chr19:40391200-40393000	Enhancers	HepG2	liver
18	chr19:40392000-40402800	Weak transcription	Fetal Intestine Small	intestine
19	chr19:40393000-40393200	Flanking Active TSS	HepG2	liver
20	chr19:40393000-40393800	Enhancers	Fetal Intestine Large	intestine
21	chr19:40393200-40393600	Enhancers	HepG2	liver
22	chr19:40393600-40393800	Active TSS	HepG2	liver
23	chr19:40393800-40404000	Weak transcription	Fetal Intestine Large	intestine
24	chr19:40396400-40404400	Weak transcription	Stomach Mucosa	stomach
25	chr19:40397400-40397800	Weak transcription	Fetal Muscle Trunk	muscle
26	chr19:40397600-40397800	Weak transcription	Spleen	Spleen
27	chr19:40397600-40398000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr19:40397800-40398000	Enhancers	Fetal Muscle Trunk	muscle
29	chr19:40397800-40398000	Enhancers	Spleen	Spleen
30	chr19:40398000-40398800	Weak transcription	Fetal Muscle Trunk	muscle
31	chr19:40398000-40402800	Weak transcription	Spleen	Spleen
32	chr19:40398000-40404000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr19:40399000-40399200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr19:40399000-40399200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
35	chr19:40399000-40399200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
36	chr19:40399000-40399200	Enhancers	Fetal Muscle Trunk	muscle

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