Variant report

Variant	nsv963046
Chromosome Location	chr19:39735570-39739516
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	CHD2	chr19:39737653-39737778	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr19:39736040-39736190	HCT-116	colon:	n/a	n/a
3	CTCF	chr19:39735818-39736106	MCF-7	breast:	n/a	chr19:39735985-39735994
4	CTCF	chr19:39735757-39736187	A549	lung:	n/a	chr19:39735985-39735994
5	CTCF	chr19:39737953-39738025	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr19:39735790-39736177	K562	blood:	n/a	chr19:39735985-39735994
7	CTCF	chr19:39736060-39736210	HEK293	kidney:	n/a	n/a
8	CTCF	chr19:39735851-39736102	GM10266	blood:	n/a	chr19:39735985-39735994
9	CTCF	chr19:39736040-39736190	GM12870	blood:	n/a	n/a
10	CTCF	chr19:39735739-39736294	A549	lung:	n/a	chr19:39735985-39735994
11	CTCF	chr19:39735852-39736119	GM12878	blood:	n/a	chr19:39735985-39735994
12	CTCF	chr19:39735881-39736089	GM10248	blood:	n/a	chr19:39735985-39735994
13	CTCF	chr19:39735656-39735675	MCF-7	breast:	n/a	n/a
14	CTCF	chr19:39736100-39736250	GM06990	blood:	n/a	n/a
15	CTCF	chr19:39738280-39738430	SAEC	small airway:	n/a	n/a
16	CTCF	chr19:39735844-39736100	K562	blood:	n/a	chr19:39735985-39735994
17	CTCF	chr19:39735864-39736110	GM13977	blood:	n/a	chr19:39735985-39735994
18	CTCF	chr19:39735864-39736073	GM19239	blood:	n/a	chr19:39735985-39735994
19	CTCF	chr19:39736942-39736988	Pancreas_OC	pancreas:	n/a	n/a
20	CTCF	chr19:39735852-39736089	MCF-7	breast:	n/a	chr19:39735985-39735994
21	CTCF	chr19:39735845-39736078	HepG2	liver:	n/a	chr19:39735985-39735994
22	CTCF	chr19:39735629-39735670	GM19239	blood:	n/a	n/a
23	CTCF	chr19:39735853-39736093	MCF-7	breast:	n/a	chr19:39735985-39735994
24	CTCF	chr19:39735787-39736049	A549	lung:	n/a	chr19:39735985-39735994
25	CTCF	chr19:39736020-39736170	HepG2	liver:	n/a	n/a
26	CTCF	chr19:39736020-39736170	GM12878	blood:	n/a	n/a
27	CTCF	chr19:39736020-39736170	GM12864	blood:	n/a	n/a
28	CTCF	chr19:39735841-39736104	Pancreas_OC	pancreas:	n/a	chr19:39735985-39735994
29	CTCF	chr19:39735861-39736101	GM19240	blood:	n/a	chr19:39735985-39735994
30	CTCF	chr19:39735899-39736073	Kidney_OC	kidney:	n/a	chr19:39735985-39735994
31	CTCF	chr19:39735783-39736242	K562	blood:	n/a	chr19:39735985-39735994
32	CTCF	chr19:39735609-39735688	H1-hESC	embryonic stem cell:	n/a	n/a
33	CTCF	chr19:39736040-39736190	GM12872	blood:	n/a	n/a
34	CTCF	chr19:39735844-39736092	H1-hESC	embryonic stem cell:	n/a	chr19:39735985-39735994
35	CTCF	chr19:39735846-39736096	MCF-7	breast:	n/a	chr19:39735985-39735994
36	CTCF	chr19:39735844-39736092	MCF-7	breast:	n/a	chr19:39735985-39735994
37	CTCF	chr19:39737611-39737672	Lung_OC	lung:	n/a	n/a
38	CTCF	chr19:39735849-39736102	GM12892	blood:	n/a	chr19:39735985-39735994
39	CTCF	chr19:39737900-39738050	HBMEC	blood vessel:	n/a	n/a
40	CTCF	chr19:39735952-39736015	ProgFib	skin:	n/a	chr19:39735985-39735994
41	CTCF	chr19:39735888-39736000	Lung_OC	lung:	n/a	chr19:39735985-39735994
42	CTCF	chr19:39736060-39736210	HCT-116	colon:	n/a	n/a
43	CTCF	chr19:39735844-39736100	GM19238	blood:	n/a	chr19:39735985-39735994
44	CTCF	chr19:39735646-39735701	GM19238	blood:	n/a	n/a
45	CTCF	chr19:39735875-39736061	NHEK	skin:	n/a	chr19:39735985-39735994
46	CTCF	chr19:39735841-39735848	LNCaP	prostate:	n/a	n/a
47	CTCF	chr19:39735617-39735743	GM12878	blood:	n/a	n/a
48	CTCF	chr19:39735889-39736094	LNCaP	prostate:	n/a	chr19:39735985-39735994
49	CTCF	chr19:39735913-39736062	Medullo	brain:	n/a	chr19:39735985-39735994
50	CTCF	chr19:39736000-39736150	GM12866	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:39738664-39738714	ProgFib	skin:	n/a
2	chr19:39738664-39738714	ProgFib	skin:	n/a
3	chr19:39737861-39737911	GM12892	blood:	n/a
4	chr19:39736699-39736749	H1-hESC	embryonic stem cell:	embryo
5	chr19:39738664-39738714	NHBE	bronchial:	n/a
6	chr19:39736690-39736740	BJ	skin:	n/a
7	chr19:39738664-39738714	CMK	blood:	n/a
8	chr19:39736956-39737006	IMR90	lung:	fetal
9	chr19:39736956-39737006	HepG2	liver:	n/a
10	chr19:39738664-39738714	BE2_C	brain:	n/a
11	chr19:39737768-39737818	Hepatocyte	liver:	n/a
12	chr19:39736699-39736749	IMR90	lung:	fetal
13	chr19:39737768-39737818	HUVEC	blood vessel:	n/a
14	chr19:39739058-39739108	SKMC	muscle:	n/a
15	chr19:39736690-39736740	ECC-1	luminal epithelium:	n/a
16	chr19:39737804-39737854	HCM	heart:	n/a
17	chr19:39738664-39738714	LNCaP	prostate:	n/a
18	chr19:39737861-39737911	CMK	blood:	n/a
19	chr19:39737861-39737911	MCF10A-Er-Src	breast:	n/a
20	chr19:39739058-39739108	PFSK-1	brain:	n/a
21	chr19:39736699-39736749	HRPEpiC	eye:	n/a
22	chr19:39739215-39739265	HPAEpiC	pulmonary alveolar:	n/a
23	chr19:39737861-39737911	Jurkat	blood:	n/a
24	chr19:39739215-39739265	Jurkat	blood:	n/a
25	chr19:39738664-39738714	NHDF-neo	bronchial:	n/a
26	chr19:39735568-39735618	U87	brain:	n/a
27	chr19:39736690-39736740	U87	brain:	n/a
28	chr19:39735556-39735606	SAEC	small airway:	n/a
29	chr19:39739058-39739108	PANC-1	pancreas:	n/a
30	chr19:39739058-39739108	U87	brain:	n/a
31	chr19:39739058-39739108	Jurkat	blood:	n/a
32	chr19:39738664-39738714	HCT-116	colon:	n/a
33	chr19:39737768-39737818	SK-N-MC	brain:	n/a
34	chr19:39736699-39736749	HAEpiC	amniotic membrane:	n/a
35	chr19:39737804-39737854	HNPCEpiC	eye:	n/a
36	chr19:39736699-39736749	HNPCEpiC	eye:	n/a
37	chr19:39739215-39739265	T-47D	breast:	n/a
38	chr19:39735556-39735606	HRE	kidney:	n/a
39	chr19:39739058-39739108	LNCaP	prostate:	n/a
40	chr19:39735568-39735618	HEK293	kidney:	embryo
41	chr19:39739215-39739265	SK-N-SH_RA	brain:	n/a
42	chr19:39735556-39735606	HCF	heart:	n/a
43	chr19:39735568-39735618	IMR90	lung:	fetal
44	chr19:39735568-39735618	NH-A	brain:	n/a
45	chr19:39738664-39738714	AG04450	lung:	fetal
46	chr19:39737768-39737818	GM06990	blood:	n/a
47	chr19:39735556-39735606	Hela-S3	cervix:	n/a
48	chr19:39737861-39737911	HAEpiC	amniotic membrane:	n/a
49	chr19:39738664-39738714	HNPCEpiC	eye:	n/a
50	chr19:39737768-39737818	Jurkat	blood:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:39738872..39741336-chr19:39743495..39745954,2	K562	blood:

Variant related genes	Relation type
IFNL4	TF binding region
IFNL3	TF binding region
IFNL4	CpG island
IFNL3	CpG island
ENSG00000213926	chromatin interactions

Extended variants
information (count: 164 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:164 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201228830	chr19:39735583-39735584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs377221199	chr19:39735589-39735590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs71356848	chr19:39735591-39735592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs150569967	chr19:39735601-39735602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs630388	chr19:39735602-39735603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs202126177	chr19:39735603-39735604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs200289435	chr19:39735606-39735607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs143935261	chr19:39735607-39735608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs372735927	chr19:39735621-39735622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs377212766	chr19:39735630-39735631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs141678286	chr19:39735632-39735633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs71356849	chr19:39735640-39735641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs200835829	chr19:39735643-39735644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs28416813	chr19:39735644-39735645	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs199632578	chr19:39735659-39735660	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs202129388	chr19:39735686-39735687	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs200719718	chr19:39735687-39735688	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs201598821	chr19:39735702-39735703	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs200139569	chr19:39735704-39735705	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs200610163	chr19:39735743-39735744	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs201422642	chr19:39735749-39735750	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs578007730	chr19:39735766-39735767	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs199878734	chr19:39735776-39735777	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs201278888	chr19:39735815-39735816	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs560602940	chr19:39735824-39735825	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs201690073	chr19:39735919-39735920	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs375318753	chr19:39735938-39735939	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs368595723	chr19:39735955-39735956	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs576352388	chr19:39735961-39735962	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs531913445	chr19:39736089-39736090	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs550495003	chr19:39736108-39736109	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs369570155	chr19:39736110-39736111	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs114541631	chr19:39736115-39736116	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs372814568	chr19:39736125-39736126	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs192457886	chr19:39736144-39736145	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs199623483	chr19:39736147-39736148	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs113703374	chr19:39736163-39736164	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs140168465	chr19:39736170-39736171	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs529808308	chr19:39736202-39736203	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs149779855	chr19:39736241-39736242	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs375771609	chr19:39736285-39736286	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs543175899	chr19:39736309-39736310	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs139764246	chr19:39736311-39736312	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs573099874	chr19:39736319-39736320	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs569567930	chr19:39736330-39736331	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs536943593	chr19:39736334-39736335	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs576174500	chr19:39736390-39736391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs558853778	chr19:39736469-39736470	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs531634151	chr19:39736507-39736508	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs551733738	chr19:39736519-39736520	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
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
small cell lung cancer	20016488	CNVD
Wilms tumour	21544195	CNVD
Mental retardation	19951919	CNVD
19q13.11 deletion syndrome	22378287	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	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
Breast cancer	21509527	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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:201 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:39729000-39738000	Weak transcription	Primary hematopoietic stem cells	blood
2	chr19:39729200-39736000	Weak transcription	Placenta	Placenta
3	chr19:39731600-39737600	Weak transcription	Right Atrium	heart
4	chr19:39732000-39737400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr19:39732200-39737600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr19:39732800-39737600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr19:39736000-39736600	Enhancers	Placenta	Placenta
8	chr19:39737400-39738000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr19:39737600-39737800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
10	chr19:39737600-39737800	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr19:39737600-39737800	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr19:39737600-39737800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr19:39737600-39737800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr19:39737600-39737800	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr19:39737600-39737800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr19:39737600-39737800	Bivalent Enhancer	Brain Cingulate Gyrus	brain
17	chr19:39737600-39737800	Bivalent Enhancer	Brain Hippocampus Middle	brain
18	chr19:39737600-39737800	Bivalent/Poised TSS	Psoas Muscle	Psoas
19	chr19:39737600-39737800	Enhancers	Right Atrium	heart
20	chr19:39737600-39738000	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
21	chr19:39737600-39738000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr19:39737600-39738000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr19:39737600-39738000	Bivalent Enhancer	Brain Inferior Temporal Lobe	brain
24	chr19:39737600-39738000	Enhancers	Ovary	ovary
25	chr19:39737600-39738000	Active TSS	Right Ventricle	heart
26	chr19:39737600-39738200	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
27	chr19:39737600-39738400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
28	chr19:39737600-39738400	Bivalent/Poised TSS	Brain Anterior Caudate	brain
29	chr19:39737600-39738400	Bivalent Enhancer	Left Ventricle	heart
30	chr19:39737600-39738600	Enhancers	Primary B cells from cord blood	blood
31	chr19:39737600-39738600	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr19:39737600-39738600	Bivalent Enhancer	Fetal Stomach	stomach
33	chr19:39737600-39738800	Enhancers	Primary B cells from peripheral blood	blood
34	chr19:39737600-39738800	Bivalent/Poised TSS	Brain Angular Gyrus	brain
35	chr19:39737600-39738800	Bivalent/Poised TSS	Fetal Brain Female	brain
36	chr19:39737600-39738800	Bivalent Enhancer	Fetal Thymus	thymus
37	chr19:39737600-39739000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
38	chr19:39737600-39739000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
39	chr19:39737600-39739000	Bivalent Enhancer	Fetal Intestine Small	intestine
40	chr19:39737600-39739000	Enhancers	Gastric	stomach
41	chr19:39737600-39739000	Bivalent Enhancer	Lung	lung
42	chr19:39737600-39739000	Bivalent Enhancer	Spleen	Spleen
43	chr19:39737600-39739000	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
44	chr19:39737600-39739200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
45	chr19:39737800-39738000	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
46	chr19:39737800-39738000	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
47	chr19:39737800-39738000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr19:39737800-39738000	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
49	chr19:39737800-39738000	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
50	chr19:39737800-39738000	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links