Variant report

Variant	esv3397817
Chromosome Location	chr19:21380545-21389996
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 488 )
Associated
traits (count: 41 )

Variant overlapped rSNPs/rCNVs (count:488 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113595645	chr19:21380553-21380554	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs552996447	chr19:21380556-21380557	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs190617308	chr19:21380559-21380560	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs555876978	chr19:21380609-21380610	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs555390630	chr19:21380645-21380646	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs147643998	chr19:21380661-21380662	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs544079588	chr19:21380668-21380669	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs29723	chr19:21380717-21380718	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs371672300	chr19:21380734-21380735	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs577855661	chr19:21380735-21380736	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs78670580	chr19:21380754-21380755	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs368751305	chr19:21380773-21380774	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs538145527	chr19:21380862-21380863	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs77358296	chr19:21380865-21380866	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs79375675	chr19:21380875-21380876	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs80078850	chr19:21380876-21380877	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs77024719	chr19:21380878-21380879	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs75124085	chr19:21380879-21380880	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs80268680	chr19:21380883-21380884	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs77978905	chr19:21380884-21380885	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs77612696	chr19:21380888-21380889	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs76002768	chr19:21380898-21380899	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs528869053	chr19:21380905-21380906	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs74671334	chr19:21380906-21380907	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs79753831	chr19:21380907-21380908	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs10407774	chr19:21380909-21380910	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs77997889	chr19:21380919-21380920	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs77940774	chr19:21380921-21380922	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs76749868	chr19:21380926-21380927	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs75294175	chr19:21380928-21380929	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs562245478	chr19:21380931-21380932	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs80162065	chr19:21380939-21380940	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs566692160	chr19:21380941-21380942	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs79726139	chr19:21380942-21380943	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs79488001	chr19:21380952-21380953	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs76606707	chr19:21380956-21380957	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs74449782	chr19:21380960-21380961	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs76050270	chr19:21380969-21380970	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs531191649	chr19:21380987-21380988	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs146371348	chr19:21380988-21380989	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs373577783	chr19:21380989-21380990	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs550800276	chr19:21380990-21380991	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs77841767	chr19:21380999-21381000	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs75014558	chr19:21381001-21381002	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs77160175	chr19:21381002-21381003	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs546672251	chr19:21381013-21381014	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs75113252	chr19:21381020-21381021	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs191797913	chr19:21381022-21381023	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs535504028	chr19:21381025-21381026	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs75457119	chr19:21381028-21381029	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:41)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Prostate cancer	16573809	CNVD
Chordoma	18071362	CNVD
Metanephric adenoma	20802469	CNVD
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	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Lung cancer	18438408	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Colorectal cancer	20459617	CNVD
small cell lung cancer	20016488	CNVD
Ductal carcinoma	22052326	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21367000-21380600	Weak transcription	Placenta	Placenta
2	chr19:21370000-21382200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr19:21370200-21381000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr19:21370600-21380600	Weak transcription	Fetal Intestine Small	intestine
5	chr19:21373000-21380800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr19:21373200-21381800	Weak transcription	Dnd41	blood
7	chr19:21377800-21381800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr19:21378000-21381200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr19:21379200-21382400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr19:21380000-21381200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr19:21380200-21380600	Active TSS	Ovary	ovary
12	chr19:21380200-21381800	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr19:21380400-21380600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr19:21380400-21380600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr19:21380400-21381200	Enhancers	Placenta Amnion	Placenta Amnion
16	chr19:21380400-21382200	Enhancers	K562	blood
17	chr19:21380600-21380800	Enhancers	Fetal Intestine Small	intestine
18	chr19:21380600-21389600	Enhancers	Ovary	ovary
19	chr19:21380800-21381000	Enhancers	Placenta	Placenta
20	chr19:21380800-21382000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr19:21381000-21381200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr19:21381200-21382000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr19:21381200-21382000	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr19:21381800-21382000	Enhancers	Dnd41	blood
25	chr19:21382000-21382200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr19:21382000-21382600	Enhancers	Placenta Amnion	Placenta Amnion
27	chr19:21382000-21383000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr19:21382000-21385600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr19:21382200-21382600	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr19:21382400-21385400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr19:21382800-21388600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr19:21383000-21383600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr19:21383600-21384000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr19:21384000-21384200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr19:21384000-21385200	Enhancers	Primary neutrophils fromperipheralblood	blood
36	chr19:21384200-21385600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr19:21385400-21386000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr19:21385600-21385800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr19:21385600-21385800	Enhancers	Brain Substantia Nigra	brain
40	chr19:21385600-21386200	Enhancers	H1 Cell Line	embryonic stem cell
41	chr19:21385600-21386200	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr19:21385600-21386200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr19:21385600-21387000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr19:21385800-21386400	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr19:21386000-21386200	Enhancers	Brain Hippocampus Middle	brain
46	chr19:21386000-21387000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr19:21387000-21388000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr19:21387000-21389800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr19:21387200-21387800	Enhancers	Stomach Mucosa	stomach
50	chr19:21388000-21389400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell

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