Variant report

Variant	nsv512581
Chromosome Location	chr19:35779561-35781562
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr19:35780581-35780681	A549	lung:	n/a	n/a
2	CEBPB	chr19:35780884-35781026	K562	blood:	n/a	n/a
3	MAFF	chr19:35781325-35781659	HepG2	liver:	n/a	n/a
4	MAFK	chr19:35781309-35781658	HepG2	liver:	n/a	chr19:35781473-35781490
5	MAFK	chr19:35781345-35781598	Hela-S3	cervix:	n/a	chr19:35781473-35781490
6	MAFK	chr19:35781408-35781637	K562	blood:	n/a	chr19:35781473-35781490
7	MAFK	chr19:35781356-35781658	IMR90	lung:	n/a	chr19:35781473-35781490
8	MAFK	chr19:35781307-35781650	HepG2	liver:	n/a	chr19:35781473-35781490
9	MAFK	chr19:35781425-35781588	H1-hESC	embryonic stem cell:	n/a	chr19:35781473-35781490
10	RFX5	chr19:35781389-35781639	HepG2	liver:	n/a	chr19:35781524-35781533
11	SMC3	chr19:35780034-35780061	Hela-S3	cervix:	n/a	n/a
12	SRF	chr19:35780954-35781056	GM12878	blood:	n/a	n/a
13	ZC3H11A	chr19:35780605-35780891	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:35778338..35780262-chr19:35804621..35807184,2	MCF-7	breast:
2	chr19:35778229..35780578-chr19:35810111..35812060,2	K562	blood:
3	chr19:35779735..35782128-chr19:35802752..35804567,2	MCF-7	breast:
4	chr19:35776981..35780325-chr19:35781978..35784871,3	MCF-7	breast:
5	chr19:35775844..35777414-chr19:35778396..35780785,2	MCF-7	breast:
6	chr19:35780282..35782569-chr19:35797611..35799728,2	MCF-7	breast:

Variant related genes	Relation type
MAG	TF binding region
ENSG00000012124	chromatin interactions
ENSG00000105695	chromatin interactions

Extended variants
information (count: 120 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:120 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557262401	chr19:35779561-35779562	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs573862128	chr19:35779573-35779574	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs542816659	chr19:35779588-35779589	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs139925479	chr19:35779590-35779591	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs528180652	chr19:35779606-35779607	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs535617441	chr19:35779661-35779662	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs564724631	chr19:35779662-35779663	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs376831629	chr19:35779693-35779694	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs182896194	chr19:35779738-35779739	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs547880345	chr19:35779739-35779740	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs143918403	chr19:35779756-35779757	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs529561186	chr19:35779771-35779772	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs187494819	chr19:35779772-35779773	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs558227433	chr19:35779821-35779822	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs565807294	chr19:35779853-35779854	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs371740355	chr19:35779858-35779859	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs58561765	chr19:35779871-35779872	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs193151762	chr19:35779908-35779909	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs551258199	chr19:35779909-35779910	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs185591433	chr19:35779935-35779936	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs187706988	chr19:35779942-35779943	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs147183666	chr19:35779943-35779944	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs562875400	chr19:35779983-35779984	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs374563255	chr19:35780040-35780041	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs573948880	chr19:35780044-35780045	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs192576549	chr19:35780085-35780086	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs181591822	chr19:35780114-35780115	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs184060029	chr19:35780117-35780118	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs139579367	chr19:35780223-35780224	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs149725909	chr19:35780228-35780229	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs557915039	chr19:35780244-35780245	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs116802782	chr19:35780251-35780252	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs188360323	chr19:35780269-35780270	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs564583757	chr19:35780276-35780277	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs73927977	chr19:35780293-35780294	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs529526546	chr19:35780371-35780372	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs369814126	chr19:35780405-35780406	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs181573245	chr19:35780406-35780407	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs559516711	chr19:35780423-35780424	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs528700796	chr19:35780447-35780448	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs145608621	chr19:35780552-35780553	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs56797097	chr19:35780585-35780586	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs60371055	chr19:35780586-35780587	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs571667113	chr19:35780646-35780647	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs200788565	chr19:35780698-35780699	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs537164328	chr19:35780710-35780711	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs74172713	chr19:35780721-35780722	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs376835566	chr19:35780722-35780723	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs184707188	chr19:35780746-35780747	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs75306692	chr19:35780750-35780751	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	mRNA abundance

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
Pleomorphic liposarcoma	18784837	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	21397856	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Ovarian cancer	20844748	CNVD
Non-small cell lung cancer	21829676	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Cancer	21183584	CNVD
Honadal dysgenesis	21048976	CNVD
Neurodevelopmental disorder	22521361	CNVD
Endometrial cancer	23636398	CNVD
Disorders of sex development	21048976	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
Gastric cancer	21811585	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Multiple myeloma	17550852	CNVD
Lung cancer	18438408	CNVD
Glioma	17123091	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Multiple myeloma	16616336	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:35762800-35780000	Weak transcription	Hela-S3	cervix
2	chr19:35768400-35781400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr19:35768800-35781400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr19:35772000-35781200	Weak transcription	Brain Substantia Nigra	brain
5	chr19:35774800-35809600	Weak transcription	Right Atrium	heart
6	chr19:35775400-35782600	Weak transcription	Primary B cells from peripheral blood	blood
7	chr19:35776000-35781200	Weak transcription	Brain Cingulate Gyrus	brain
8	chr19:35776200-35780000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr19:35776200-35780000	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr19:35776200-35781400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr19:35776200-35781400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr19:35776200-35781600	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr19:35776200-35781600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr19:35776200-35784200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr19:35776200-35786400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr19:35776400-35780000	Weak transcription	Brain Angular Gyrus	brain
17	chr19:35776400-35780000	Weak transcription	Brain Hippocampus Middle	brain
18	chr19:35776400-35781200	Weak transcription	Brain Anterior Caudate	brain
19	chr19:35776400-35781400	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr19:35777200-35780200	Weak transcription	K562	blood
21	chr19:35778600-35783400	Weak transcription	Fetal Lung	lung
22	chr19:35779200-35780200	Enhancers	HepG2	liver
23	chr19:35779800-35780400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr19:35780000-35780200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr19:35780000-35780600	Enhancers	Brain Angular Gyrus	brain
26	chr19:35780000-35780600	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr19:35780000-35780600	Enhancers	Hela-S3	cervix
28	chr19:35780000-35780800	Enhancers	Brain Hippocampus Middle	brain
29	chr19:35780200-35780400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr19:35780200-35780400	Enhancers	K562	blood
31	chr19:35780200-35781200	Bivalent Enhancer	HepG2	liver
32	chr19:35780600-35781000	Weak transcription	Brain Angular Gyrus	brain
33	chr19:35780600-35781000	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr19:35780800-35781200	Weak transcription	Brain Hippocampus Middle	brain
35	chr19:35781000-35782000	Enhancers	Brain Angular Gyrus	brain
36	chr19:35781000-35782000	Enhancers	Brain Inferior Temporal Lobe	brain
37	chr19:35781200-35781400	Enhancers	Brain Anterior Caudate	brain
38	chr19:35781200-35781400	Enhancers	Brain Cingulate Gyrus	brain
39	chr19:35781200-35781400	Enhancers	Brain Hippocampus Middle	brain
40	chr19:35781200-35781800	Enhancers	Brain Substantia Nigra	brain
41	chr19:35781200-35781800	Flanking Bivalent TSS/Enh	HepG2	liver
42	chr19:35781400-35781600	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr19:35781400-35781600	Flanking Active TSS	Brain Anterior Caudate	brain
44	chr19:35781400-35781600	Flanking Active TSS	Brain Cingulate Gyrus	brain
45	chr19:35781400-35781800	Flanking Active TSS	Brain Hippocampus Middle	brain
46	chr19:35781400-35782200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
47	chr19:35781400-35782200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr19:35781400-35782400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr19:35781400-35782400	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr19:35781400-35782400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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