Variant report

Variant	esv2762988
Chromosome Location	chr19:21384837-21400142
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:21392274..21393855-chr19:21395475..21398127,2	K562	blood:
2	chr19:21392274..21393855-chr19:21395475..21398127,2	K562	blood:

Extended variants
information (count: 656 )
Associated
traits (count: 41 )

Variant overlapped rSNPs/rCNVs (count:656 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs29709	chr19:21384837-21384838	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs467187	chr19:21384851-21384852	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs466262	chr19:21384856-21384857	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs193290318	chr19:21384868-21384869	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs554781587	chr19:21384905-21384906	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs574850300	chr19:21384913-21384914	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs144950556	chr19:21384956-21384957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs541584740	chr19:21384957-21384958	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs184963240	chr19:21384963-21384964	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs188164232	chr19:21384999-21385000	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs200627593	chr19:21385057-21385058	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs397808161	chr19:21385059-21385060	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs74709308	chr19:21385060-21385061	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs78843874	chr19:21385061-21385062	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs545668174	chr19:21385064-21385065	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs191431212	chr19:21385155-21385156	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs554880065	chr19:21385274-21385275	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs183999684	chr19:21385317-21385318	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs190000335	chr19:21385369-21385370	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs371494865	chr19:21385386-21385387	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs541978302	chr19:21385429-21385430	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs149023424	chr19:21385434-21385435	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs530579011	chr19:21385501-21385502	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs29708	chr19:21385523-21385524	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs564068365	chr19:21385533-21385534	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs181711513	chr19:21385548-21385549	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs575119370	chr19:21385553-21385554	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs544840246	chr19:21385563-21385564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs543910500	chr19:21385566-21385567	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs534929314	chr19:21385577-21385578	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs548719315	chr19:21385619-21385620	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs568473671	chr19:21385640-21385641	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs528897032	chr19:21385660-21385661	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs73543859	chr19:21385661-21385662	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs556962166	chr19:21385778-21385779	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs113911160	chr19:21385795-21385796	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs576808192	chr19:21385805-21385806	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs539411562	chr19:21385816-21385817	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs553013171	chr19:21385819-21385820	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs542626707	chr19:21385842-21385843	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs541667257	chr19:21385856-21385857	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs555528111	chr19:21385872-21385873	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs575457912	chr19:21385873-21385874	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs75823388	chr19:21385874-21385875	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs564105162	chr19:21385876-21385877	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs532974451	chr19:21385880-21385881	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs540199557	chr19:21385885-21385886	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs73543862	chr19:21385890-21385891	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs531427288	chr19:21385904-21385905	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs77577781	chr19:21385932-21385933	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:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21380600-21389600	Enhancers	Ovary	ovary
2	chr19:21382000-21385600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr19:21382400-21385400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr19:21382800-21388600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr19:21384000-21385200	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr19:21384200-21385600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr19:21385400-21386000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr19:21385600-21385800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr19:21385600-21385800	Enhancers	Brain Substantia Nigra	brain
10	chr19:21385600-21386200	Enhancers	H1 Cell Line	embryonic stem cell
11	chr19:21385600-21386200	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr19:21385600-21386200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr19:21385600-21387000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr19:21385800-21386400	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr19:21386000-21386200	Enhancers	Brain Hippocampus Middle	brain
16	chr19:21386000-21387000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr19:21387000-21388000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr19:21387000-21389800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr19:21387200-21387800	Enhancers	Stomach Mucosa	stomach
20	chr19:21388000-21389400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
21	chr19:21388400-21389400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr19:21388600-21389400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr19:21388800-21389600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr19:21389000-21389400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
25	chr19:21389600-21389800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr19:21389600-21397600	Weak transcription	Ovary	ovary
27	chr19:21392800-21393000	Enhancers	HepG2	liver
28	chr19:21392800-21393600	Enhancers	Pancreas	Pancrea
29	chr19:21393000-21393600	Bivalent Enhancer	HepG2	liver
30	chr19:21393200-21393600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr19:21393200-21393600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr19:21393200-21394200	Enhancers	Stomach Mucosa	stomach
33	chr19:21394200-21394400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr19:21396600-21397000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
35	chr19:21397000-21397600	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr19:21397200-21398200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr19:21397600-21397800	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr19:21397600-21398000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr19:21397600-21398000	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr19:21397600-21398200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr19:21397600-21398200	Enhancers	Ovary	ovary
42	chr19:21397600-21399400	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr19:21398000-21399000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr19:21398000-21404000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr19:21398200-21402200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr19:21399000-21399200	Active TSS	iPS-20b Cell Line	embryonic stem cell
47	chr19:21399200-21399400	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr19:21399200-21399400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
49	chr19:21399200-21399600	Enhancers	H1 Cell Line	embryonic stem cell
50	chr19:21399400-21400000	Enhancers	iPS-20b Cell Line	embryonic stem cell

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