Variant report

Variant	nsv1057310
Chromosome Location	chr19:27785481-28072947
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:18518469..18519030-chr19:27812381..27812905,2	MCF-7	breast:
2	chr19:27920492..27922596-chr19:29749954..29752655,2	K562	blood:
3	chr19:27961286..27961807-chr8:46850621..46851139,2	MCF-7	breast:
4	chr19:27812380..27812881-chr7:58041614..58042119,2	MCF-7	breast:

Extended variants
information (count: 22764 )
Associated
traits (count: 38 )

Variant overlapped rSNPs/rCNVs (count:22764 , 50 per page) page: 1 2 3 4 5 6 7 ... 456

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs74684822	chr19:27788408-27788409	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs147236563	chr19:27788410-27788411	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs140526059	chr19:27788430-27788431	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs377718640	chr19:27788434-27788435	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs73018545	chr19:27788435-27788436	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs191875449	chr19:27788462-27788463	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs532301494	chr19:27788465-27788466	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs550485465	chr19:27788539-27788540	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs568767803	chr19:27788540-27788541	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs78821286	chr19:27788541-27788542	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs189417575	chr19:27788565-27788566	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs375119588	chr19:27788568-27788569	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs537059107	chr19:27788587-27788588	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs375177978	chr19:27788594-27788595	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs74933617	chr19:27788617-27788618	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs567648813	chr19:27788628-27788629	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs534835990	chr19:27788629-27788630	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs553417212	chr19:27788633-27788634	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs113786289	chr19:27788641-27788642	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs114257870	chr19:27788642-27788643	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs539188563	chr19:27788649-27788650	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs112532516	chr19:27788659-27788660	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs113986435	chr19:27788675-27788676	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs111248909	chr19:27788680-27788681	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs557695753	chr19:27788686-27788687	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs576048106	chr19:27788689-27788690	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs199644765	chr19:27788690-27788691	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs12462095	chr19:27788697-27788698	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs7507797	chr19:27788752-27788753	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs572780276	chr19:27788757-27788758	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs539970467	chr19:27788766-27788767	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs184118334	chr19:27788767-27788768	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs185716492	chr19:27788769-27788770	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs200121591	chr19:27788773-27788774	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs576785078	chr19:27788778-27788779	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs201071401	chr19:27788788-27788789	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs181736819	chr19:27788792-27788793	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs190524527	chr19:27788806-27788807	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs529983741	chr19:27788830-27788831	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs560865228	chr19:27788834-27788835	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs548443186	chr19:27788852-27788853	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs201925477	chr19:27788857-27788858	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs567588327	chr19:27788865-27788866	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs367782313	chr19:27788866-27788867	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs148430651	chr19:27788875-27788876	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs571673176	chr19:27788881-27788882	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs201182720	chr19:27788896-27788897	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs202098522	chr19:27788909-27788910	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs370091565	chr19:27788921-27788922	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs539125370	chr19:27788924-27788925	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:38)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
ovarian endometriomas	16273235	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Cervical cancer	21063398	CNVD
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	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
Acute lymphoblastic leukemia	21248843	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Myelofibrosis	22110671	CNVD
Ductal carcinoma	22052326	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18194544	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Autism	19287141	CNVD
Lung cancer	18438408	CNVD
Congenital nephrotic syndrome	18421352	CNVD
Astrocytoma	17934521	CNVD
Leukemia	17361228	CNVD
Adenoid cystic carcinoma	17372589	CNVD

Chromatin state (count:535 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:27788400-27788800	Weak transcription	HUVEC	blood vessel
2	chr19:27788400-27795200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
3	chr19:27788600-27806600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
4	chr19:27788800-27789200	Active TSS	NHLF	lung
5	chr19:27788800-27789600	ZNF genes & repeats	HUVEC	blood vessel
6	chr19:27788800-27790600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr19:27788800-27808600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
8	chr19:27789000-27795400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
9	chr19:27789600-27789800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
10	chr19:27789600-27789800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr19:27789600-27790000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr19:27789600-27791600	Weak transcription	HUVEC	blood vessel
13	chr19:27789600-27794200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
14	chr19:27790000-27791600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr19:27791600-27791800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr19:27791600-27791800	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr19:27791600-27791800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr19:27791600-27791800	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
19	chr19:27791600-27791800	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
20	chr19:27791600-27791800	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
21	chr19:27791600-27791800	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr19:27791600-27791800	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
23	chr19:27791600-27791800	ZNF genes & repeats	Adipose Nuclei	Adipose
24	chr19:27791600-27791800	ZNF genes & repeats	Liver	Liver
25	chr19:27791600-27791800	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
26	chr19:27791600-27791800	ZNF genes & repeats	Brain Substantia Nigra	brain
27	chr19:27791600-27791800	ZNF genes & repeats	Fetal Brain Male	brain
28	chr19:27791600-27791800	ZNF genes & repeats	Fetal Heart	heart
29	chr19:27791600-27791800	ZNF genes & repeats	Fetal Kidney	kidney
30	chr19:27791600-27791800	ZNF genes & repeats	Fetal Lung	lung
31	chr19:27791600-27791800	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
32	chr19:27791600-27791800	ZNF genes & repeats	Stomach Mucosa	stomach
33	chr19:27791600-27791800	ZNF genes & repeats	GM12878-XiMat	blood
34	chr19:27791600-27791800	ZNF genes & repeats	HUVEC	blood vessel
35	chr19:27791800-27793600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr19:27791800-27793600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr19:27791800-27793600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr19:27792800-27806800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr19:27793400-27793800	ZNF genes & repeats	Fetal Brain Male	brain
40	chr19:27793400-27794600	ZNF genes & repeats	HUVEC	blood vessel
41	chr19:27793600-27793800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr19:27793600-27794000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr19:27793600-27794000	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr19:27793600-27794000	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
45	chr19:27793600-27794000	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr19:27793600-27794000	ZNF genes & repeats	Brain Substantia Nigra	brain
47	chr19:27794000-27798200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr19:27794000-27798200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr19:27797400-27798600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
50	chr19:27797400-27803000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell

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