Variant report

Variant	nsv819812
Chromosome Location	chr22:30453933-30470372
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 473 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:473 , 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	rs576062115	chr22:30454130-30454131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs543069737	chr22:30454134-30454135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs550474819	chr22:30454193-30454194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs558488925	chr22:30454222-30454223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs368769967	chr22:30454233-30454234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs545341407	chr22:30454239-30454240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs560406296	chr22:30454267-30454268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs527914988	chr22:30454276-30454277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs542790965	chr22:30454283-30454284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs371317683	chr22:30454284-30454285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs71328822	chr22:30454291-30454292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs71328823	chr22:30454300-30454301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs376149062	chr22:30454313-30454314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs188650658	chr22:30454381-30454382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs181266917	chr22:30454399-30454400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs113759094	chr22:30454444-30454445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs571660864	chr22:30454598-30454599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs532539657	chr22:30454600-30454601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs76486285	chr22:30454731-30454732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs189199468	chr22:30454761-30454762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs550110650	chr22:30454802-30454803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs5763749	chr22:30454808-30454809	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs142499675	chr22:30454901-30454902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs529496456	chr22:30454914-30454915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs549038849	chr22:30455009-30455010	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs182196997	chr22:30455098-30455099	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs537104895	chr22:30455216-30455217	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs558367814	chr22:30455227-30455228	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs144761457	chr22:30455268-30455269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs6006337	chr22:30455269-30455270	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs7292732	chr22:30455378-30455379	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs34409437	chr22:30455385-30455386	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs7364134	chr22:30455412-30455413	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs149316176	chr22:30455422-30455423	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs144625515	chr22:30455461-30455462	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs371757636	chr22:30455479-30455480	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs12160001	chr22:30455761-30455762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs531808660	chr22:30455766-30455767	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs543934780	chr22:30455770-30455771	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs565217133	chr22:30455775-30455776	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs71328824	chr22:30455780-30455781	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs532576289	chr22:30455811-30455812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs13057733	chr22:30455816-30455817	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs565998381	chr22:30455840-30455841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs369530104	chr22:30455850-30455851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs12160260	chr22:30455889-30455890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs529978181	chr22:30455907-30455908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs548088254	chr22:30456001-30456002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs571520524	chr22:30456077-30456078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs193478	chr22:30456153-30456154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Velocardiofacial syndrome	20111667	CNVD
Medulloblastoma	21979893	CNVD
sporadic solitary meningiomas	19589153	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Congenital heart defect	22511896	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	17387387	CNVD
Seminomas	18059402	CNVD
Cancer	16751803	CNVD
Metanephric adenoma	20802469	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Colorectal cancer	19359472	CNVD
Metachromatic leukodystrophy	18421352	CNVD
Basal cell lymphoma	17170743	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Breast cancer	21858162	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Melanoma	18172304	CNVD
Ovarian cancer	22174824	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Wilms tumour	21544195	CNVD
Acute myeloid leukemia	21251322	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Lung cancer	18438408	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
small cell lung cancer	20016488	CNVD
Cancer	21183584	CNVD
Renal cell carcinoma	18765545	CNVD
Schizophrenia	19521646	CNVD
Schizophrenia	18990708	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	21829676	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Autism	17322880	CNVD
Breast cancer	20409316	CNVD
Neurofibromatosis type 2	19566914	CNVD
Autism	19384346	CNVD
Melanoma	17363583	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21990379	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30452600-30456200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr22:30455000-30455400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr22:30455000-30455400	Enhancers	HMEC	breast
4	chr22:30455000-30455600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr22:30455000-30455600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr22:30455000-30455800	Enhancers	NHEK	skin
7	chr22:30456400-30457000	Enhancers	Rectal Mucosa Donor 29	rectum
8	chr22:30456600-30456800	Enhancers	Fetal Intestine Small	intestine
9	chr22:30456600-30460000	Enhancers	Rectal Mucosa Donor 31	rectum
10	chr22:30456800-30457800	Weak transcription	Fetal Intestine Small	intestine
11	chr22:30457000-30457400	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr22:30457400-30458200	Enhancers	Rectal Mucosa Donor 29	rectum
13	chr22:30457600-30458400	Enhancers	Primary neutrophils fromperipheralblood	blood
14	chr22:30457600-30458400	Enhancers	Colonic Mucosa	Colon
15	chr22:30457800-30459600	Enhancers	Fetal Intestine Small	intestine
16	chr22:30458000-30459800	Enhancers	HepG2	liver
17	chr22:30458200-30459000	Enhancers	Stomach Mucosa	stomach
18	chr22:30458400-30458600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr22:30458400-30458800	Enhancers	Fetal Intestine Large	intestine
20	chr22:30458400-30459400	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr22:30458600-30459200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr22:30459400-30460800	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
23	chr22:30461600-30474600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr22:30461800-30462000	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell

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