Variant report

Variant	nsv911676
Chromosome Location	chr19:39395654-39399277
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:39394310..39397205-chr19:39405071..39408067,2	K562	blood:
2	chr19:39388731..39393423-chr19:39394024..39400037,10	K562	blood:
3	chr19:39398169..39400794-chr19:39403289..39404909,2	MCF-7	breast:
4	chr19:39395804..39397367-chr19:39401550..39403461,2	MCF-7	breast:
5	chr19:39395944..39398654-chr19:39409098..39410676,3	K562	blood:
6	chr19:39394465..39398073-chr19:39398218..39402853,5	MCF-7	breast:
7	chr19:39337064..39339680-chr19:39397865..39400024,2	K562	blood:
8	chr19:39398838..39403067-chr19:39419638..39422578,4	MCF-7	breast:
9	chr19:39394709..39398675-chr19:39410709..39413256,3	K562	blood:
10	chr19:39217426..39220275-chr19:39394811..39396577,2	K562	blood:
11	chr19:39339924..39344199-chr19:39398243..39400684,3	MCF-7	breast:
12	chr19:39337724..39340689-chr19:39393839..39396661,3	K562	blood:
13	chr19:39390244..39393015-chr19:39395233..39398542,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000068903	chromatin interactions
ENSG00000104824	chromatin interactions
ENSG00000262484	chromatin interactions
ENSG00000128626	chromatin interactions
ENSG00000104835	chromatin interactions
ENSG00000104825	chromatin interactions
ENSG00000130402	chromatin interactions

Extended variants
information (count: 225 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:225 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113918655	chr19:39395654-39395655	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
2	rs150423716	chr19:39395690-39395691	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs145220553	chr19:39395718-39395719	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs142337920	chr19:39395721-39395722	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
5	rs377225970	chr19:39395722-39395723	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
6	rs146288310	chr19:39395735-39395736	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs370729219	chr19:39395758-39395759	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs376344622	chr19:39395760-39395761	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs368124272	chr19:39395761-39395762	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs372256941	chr19:39395769-39395770	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs536630766	chr19:39395772-39395773	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
12	rs377088213	chr19:39395812-39395813	Weak transcription Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
13	rs368928450	chr19:39395821-39395822	Weak transcription Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
14	rs189461298	chr19:39395833-39395834	Weak transcription Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
15	rs200550654	chr19:39395836-39395837	Weak transcription Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
16	rs370852032	chr19:39395847-39395848	Weak transcription Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
17	rs546790426	chr19:39395854-39395855	Weak transcription Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
18	rs373893343	chr19:39395864-39395865	Weak transcription Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
19	rs577598959	chr19:39395866-39395867	Weak transcription Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
20	rs373199604	chr19:39395878-39395879	Weak transcription Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
21	rs139372587	chr19:39395882-39395883	Weak transcription Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
22	rs368525794	chr19:39395899-39395900	Weak transcription Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
23	rs143280013	chr19:39395911-39395912	Weak transcription Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
24	rs377205021	chr19:39395925-39395926	Weak transcription Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
25	rs533896617	chr19:39395930-39395931	Weak transcription Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
26	rs199793891	chr19:39395942-39395943	Weak transcription Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
27	rs541662815	chr19:39395946-39395947	Weak transcription Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
28	rs143781834	chr19:39395963-39395964	Weak transcription Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
29	rs371871462	chr19:39395969-39395970	Weak transcription Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
30	rs373087158	chr19:39395976-39395977	Weak transcription Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
31	rs200736620	chr19:39396004-39396005	Weak transcription Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
32	rs199908107	chr19:39396005-39396006	Weak transcription Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
33	rs371423502	chr19:39396010-39396011	Weak transcription Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
34	rs563622532	chr19:39396011-39396012	Weak transcription Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
35	rs181220380	chr19:39396012-39396013	Weak transcription Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
36	rs201990071	chr19:39396013-39396014	Weak transcription Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
37	rs11551803	chr19:39396018-39396019	Weak transcription Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
38	rs148134026	chr19:39396028-39396029	Weak transcription Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
39	rs201087488	chr19:39396031-39396032	Weak transcription Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
40	rs371015711	chr19:39396042-39396043	Weak transcription Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
41	rs200151971	chr19:39396043-39396044	Weak transcription Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
42	rs547210509	chr19:39396049-39396050	Weak transcription Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
43	rs141706130	chr19:39396059-39396060	Weak transcription Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
44	rs374441253	chr19:39396078-39396079	Weak transcription Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
45	rs61754993	chr19:39396097-39396098	Weak transcription Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
46	rs201794306	chr19:39396100-39396101	Weak transcription Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
47	rs375222019	chr19:39396106-39396107	Weak transcription Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
48	rs150533078	chr19:39396171-39396172	Weak transcription Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
49	rs369255718	chr19:39396185-39396186	Weak transcription Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
50	rs372985883	chr19:39396187-39396188	Weak transcription Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
Lung cancer	18438408	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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:242 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:39391000-39395800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr19:39391200-39420800	Weak transcription	Small Intestine	intestine
3	chr19:39391400-39397400	Weak transcription	Fetal Brain Female	brain
4	chr19:39391400-39397600	Weak transcription	Psoas Muscle	Psoas
5	chr19:39391400-39402200	Weak transcription	Fetal Brain Male	brain
6	chr19:39391600-39397800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr19:39391600-39414800	Weak transcription	HMEC	breast
8	chr19:39391600-39420600	Weak transcription	Right Atrium	heart
9	chr19:39391800-39395800	Weak transcription	Brain Angular Gyrus	brain
10	chr19:39391800-39395800	Weak transcription	HSMMtube	muscle
11	chr19:39391800-39396000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr19:39391800-39396200	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr19:39391800-39397400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr19:39391800-39397400	Weak transcription	Fetal Kidney	kidney
15	chr19:39391800-39397600	Weak transcription	HSMM	muscle
16	chr19:39391800-39397800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr19:39391800-39399000	Weak transcription	NH-A	brain
18	chr19:39391800-39399600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr19:39391800-39400400	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr19:39391800-39401800	Weak transcription	Fetal Lung	lung
21	chr19:39391800-39412200	Weak transcription	Osteobl	bone
22	chr19:39392000-39399600	Weak transcription	K562	blood
23	chr19:39392200-39398400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr19:39392400-39395800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr19:39392400-39397200	Weak transcription	HUVEC	blood vessel
26	chr19:39392400-39399400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr19:39392400-39414800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr19:39392600-39396000	Weak transcription	Stomach Mucosa	stomach
29	chr19:39392600-39396400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr19:39392600-39397400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr19:39392600-39406000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr19:39392600-39414600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr19:39392600-39418800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr19:39392800-39395800	Weak transcription	Fetal Thymus	thymus
35	chr19:39393600-39400200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr19:39393800-39400200	Strong transcription	Primary B cells from cord blood	blood
37	chr19:39394000-39401200	Strong transcription	Fetal Intestine Small	intestine
38	chr19:39394200-39398000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
39	chr19:39394200-39399200	Strong transcription	Primary T cells fromperipheralblood	blood
40	chr19:39394200-39399200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr19:39394200-39401200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr19:39394600-39401200	Strong transcription	Fetal Stomach	stomach
43	chr19:39394800-39395800	Genic enhancers	A549	lung
44	chr19:39394800-39396800	Strong transcription	Primary T cells from cord blood	blood
45	chr19:39394800-39398000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr19:39394800-39398400	Strong transcription	NHEK	skin
47	chr19:39394800-39398800	Strong transcription	HUES6 Cell Line	embryonic stem cell
48	chr19:39394800-39398800	Strong transcription	Primary B cells from peripheral blood	blood
49	chr19:39394800-39398800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr19:39394800-39398800	Strong transcription	Rectal Mucosa Donor 29	rectum

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