Variant report

Variant	nsv829168
Chromosome Location	chr22:30456513-30470312
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 412 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:412 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543630876	chr22:30456588-30456589	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs12171101	chr22:30456598-30456599	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs200213863	chr22:30456610-30456611	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs6006339	chr22:30456646-30456647	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs12166998	chr22:30456661-30456662	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs577375577	chr22:30456676-30456677	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs541448923	chr22:30456811-30456812	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs540983338	chr22:30456825-30456826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs559740646	chr22:30456832-30456833	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs530116330	chr22:30456857-30456858	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs191784186	chr22:30456878-30456879	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs6006340	chr22:30456880-30456881	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs530761047	chr22:30456932-30456933	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs564139343	chr22:30456957-30456958	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs369922672	chr22:30456964-30456965	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs181693519	chr22:30456996-30456997	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs534368844	chr22:30457016-30457017	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs373034619	chr22:30457042-30457043	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs147292046	chr22:30457078-30457079	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs186189043	chr22:30457112-30457113	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs9620942	chr22:30457142-30457143	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs190118194	chr22:30457181-30457182	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs555268937	chr22:30457195-30457196	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs576630368	chr22:30457200-30457201	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs537665426	chr22:30457262-30457263	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs376220717	chr22:30457312-30457313	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs559156155	chr22:30457324-30457325	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs202034894	chr22:30457343-30457344	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs541588087	chr22:30457361-30457362	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs559879281	chr22:30457380-30457381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs574811483	chr22:30457413-30457414	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs541836380	chr22:30457416-30457417	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs370649234	chr22:30457431-30457432	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs563623354	chr22:30457460-30457461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs570222200	chr22:30457489-30457490	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs532751429	chr22:30457559-30457560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs543695033	chr22:30457577-30457578	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs372127825	chr22:30457589-30457590	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs12106543	chr22:30457604-30457605	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs140940900	chr22:30457616-30457617	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs552449882	chr22:30457631-30457632	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs182712822	chr22:30457636-30457637	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs193480	chr22:30457661-30457662	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs549324798	chr22:30457670-30457671	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs186612922	chr22:30457691-30457692	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs12628164	chr22:30457696-30457697	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs375491272	chr22:30457703-30457704	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs145867848	chr22:30457705-30457706	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs570335323	chr22:30457723-30457724	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs567040898	chr22:30457731-30457732	Enhancers 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:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30456400-30457000	Enhancers	Rectal Mucosa Donor 29	rectum
2	chr22:30456600-30456800	Enhancers	Fetal Intestine Small	intestine
3	chr22:30456600-30460000	Enhancers	Rectal Mucosa Donor 31	rectum
4	chr22:30456800-30457800	Weak transcription	Fetal Intestine Small	intestine
5	chr22:30457000-30457400	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr22:30457400-30458200	Enhancers	Rectal Mucosa Donor 29	rectum
7	chr22:30457600-30458400	Enhancers	Primary neutrophils fromperipheralblood	blood
8	chr22:30457600-30458400	Enhancers	Colonic Mucosa	Colon
9	chr22:30457800-30459600	Enhancers	Fetal Intestine Small	intestine
10	chr22:30458000-30459800	Enhancers	HepG2	liver
11	chr22:30458200-30459000	Enhancers	Stomach Mucosa	stomach
12	chr22:30458400-30458600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr22:30458400-30458800	Enhancers	Fetal Intestine Large	intestine
14	chr22:30458400-30459400	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr22:30458600-30459200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr22:30459400-30460800	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
17	chr22:30461600-30474600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr22:30461800-30462000	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell

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