Variant report

Variant	nsv966047
Chromosome Location	chr22:30844219-30851600
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:30821810..30824396-chr22:30842591..30845035,2	K562	blood:
2	chr22:30839961..30842016-chr22:30851349..30853503,2	K562	blood:
3	chr22:30841508..30843914-chr22:30845452..30847343,2	K562	blood:
4	chr22:30847099..30849207-chr22:30861572..30863598,2	K562	blood:
5	chr22:30848250..30850657-chr22:30859446..30861041,2	K562	blood:
6	chr22:30841425..30844218-chr22:30849960..30852881,2	MCF-7	breast:
7	chr22:30839545..30842321-chr22:30849222..30852849,3	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SEC14L3-1	chr22:30845842-30845989	l_2272_chr22:30840785-30847659_testes
2	lnc-SEC14L3-1	chr22:30847398-30847659	l_2272_chr22:30840785-30847659_testes

No data

Extended variants
information (count: 294 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:294 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181882023	chr22:30844245-30844246	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs9606730	chr22:30844260-30844261	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs9606731	chr22:30844325-30844326	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs9606732	chr22:30844327-30844328	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs551498470	chr22:30844338-30844339	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs12485128	chr22:30844365-30844366	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs566619997	chr22:30844373-30844374	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs376906381	chr22:30844447-30844448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs555741099	chr22:30844456-30844457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs573916553	chr22:30844477-30844478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs145042070	chr22:30844505-30844506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs147576948	chr22:30844516-30844517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs13433554	chr22:30844549-30844550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs553641211	chr22:30844554-30844555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs397867939	chr22:30844555-30844556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs570190973	chr22:30844572-30844573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs556475167	chr22:30844622-30844623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs140414124	chr22:30844630-30844631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs551698217	chr22:30844639-30844640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs545222624	chr22:30844662-30844663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs11374775	chr22:30844695-30844696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs386395198	chr22:30844702-30844703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs560343482	chr22:30844738-30844739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs572117502	chr22:30844823-30844824	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs145564971	chr22:30844837-30844838	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs554934075	chr22:30844937-30844938	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs571753992	chr22:30845027-30845028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs531188397	chr22:30845036-30845037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs369262117	chr22:30845053-30845054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs186181230	chr22:30845068-30845069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs201011472	chr22:30845090-30845091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs375846049	chr22:30845119-30845120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs148884364	chr22:30845121-30845122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs533392081	chr22:30845310-30845311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs551559599	chr22:30845317-30845318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs535676830	chr22:30845415-30845416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs75329400	chr22:30845423-30845424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs546583882	chr22:30845458-30845459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs550990491	chr22:30845476-30845477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs146120905	chr22:30845531-30845532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs71814315	chr22:30845541-30845542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs28369234	chr22:30845555-30845556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs564257632	chr22:30845594-30845595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs190302011	chr22:30845637-30845638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs534316276	chr22:30845648-30845649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs549179782	chr22:30845671-30845672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs567677684	chr22:30845673-30845674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs538234312	chr22:30845676-30845677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs556545125	chr22:30845677-30845678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs11704192	chr22:30845697-30845698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
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
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
Myelofibrosis	22110671	CNVD
muscular dystrophy type 1D	21248746	CNVD
Leukoplakia	24403051	CNVD
Ovarian neoplasms	16753589	CNVD
Autism	22495309	CNVD

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30832000-30850000	Weak transcription	Right Atrium	heart
2	chr22:30832200-30852400	Weak transcription	Spleen	Spleen
3	chr22:30841800-30846600	Weak transcription	Fetal Intestine Large	intestine
4	chr22:30841800-30850000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr22:30842000-30847400	Weak transcription	Hela-S3	cervix
6	chr22:30842600-30847000	Weak transcription	Ovary	ovary
7	chr22:30843600-30844400	Enhancers	K562	blood
8	chr22:30844000-30844400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr22:30844400-30846800	Weak transcription	K562	blood
10	chr22:30844800-30845000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr22:30844800-30845000	Enhancers	HepG2	liver
12	chr22:30846200-30846400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr22:30846600-30848000	Enhancers	Fetal Intestine Large	intestine
14	chr22:30846600-30848200	Enhancers	Fetal Intestine Small	intestine
15	chr22:30846800-30847000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr22:30846800-30848400	Enhancers	K562	blood
17	chr22:30847000-30847400	Enhancers	Gastric	stomach
18	chr22:30847000-30847400	Enhancers	Ovary	ovary
19	chr22:30847000-30849800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr22:30847200-30847400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr22:30847400-30847600	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr22:30847400-30847800	Enhancers	Hela-S3	cervix
23	chr22:30847400-30848400	Weak transcription	Ovary	ovary
24	chr22:30847400-30854200	Weak transcription	Gastric	stomach
25	chr22:30848000-30850000	Weak transcription	Fetal Intestine Large	intestine
26	chr22:30848200-30850000	Weak transcription	Fetal Intestine Small	intestine
27	chr22:30848400-30848600	Enhancers	Ovary	ovary
28	chr22:30849800-30850000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr22:30850000-30850200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr22:30850000-30850400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr22:30850000-30850400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr22:30850000-30850400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr22:30850000-30850400	Enhancers	Fetal Intestine Large	intestine
34	chr22:30850200-30850400	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr22:30850200-30850400	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr22:30850200-30850400	Enhancers	Fetal Intestine Small	intestine
37	chr22:30850400-30851000	Weak transcription	Right Atrium	heart
38	chr22:30850400-30851400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr22:30850400-30854000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr22:30851400-30851800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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