Variant report

Variant	nsv966048
Chromosome Location	chr22:31023818-31024988
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 82 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:82 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542663706	chr22:31023820-31023821	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs545981083	chr22:31023823-31023824	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs562495935	chr22:31023843-31023844	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs562689520	chr22:31023880-31023881	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs8135379	chr22:31023893-31023894	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs551072661	chr22:31023908-31023909	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs564926995	chr22:31023910-31023911	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs527491183	chr22:31023914-31023915	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs5749141	chr22:31023921-31023922	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs141555793	chr22:31023930-31023931	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs5753256	chr22:31023931-31023932	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs9306263	chr22:31023953-31023954	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs371843185	chr22:31023967-31023968	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs74887824	chr22:31023982-31023983	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs569758649	chr22:31023983-31023984	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs148112949	chr22:31024021-31024022	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs552644607	chr22:31024031-31024032	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs191486663	chr22:31024061-31024062	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs113718307	chr22:31024089-31024090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs56132790	chr22:31024094-31024095	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs555271335	chr22:31024095-31024096	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs575161905	chr22:31024110-31024111	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs370352558	chr22:31024112-31024113	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs184804445	chr22:31024132-31024133	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs556186026	chr22:31024134-31024135	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs4343559	chr22:31024155-31024156	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs544729716	chr22:31024165-31024166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs565009375	chr22:31024176-31024177	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs9606758	chr22:31024193-31024194	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs541199050	chr22:31024197-31024198	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs141908247	chr22:31024217-31024218	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs113153134	chr22:31024219-31024220	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs187829200	chr22:31024224-31024225	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs563299082	chr22:31024229-31024230	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs73398315	chr22:31024236-31024237	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs370947798	chr22:31024247-31024248	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs150242007	chr22:31024257-31024258	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs192498678	chr22:31024281-31024282	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs200196506	chr22:31024295-31024296	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs568709899	chr22:31024313-31024314	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs537736116	chr22:31024336-31024337	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs13433541	chr22:31024375-31024376	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs149423984	chr22:31024392-31024393	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs538651528	chr22:31024408-31024409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs185591511	chr22:31024441-31024442	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs577562637	chr22:31024450-31024451	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs572091570	chr22:31024456-31024457	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs369388575	chr22:31024497-31024498	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs554343244	chr22:31024500-31024501	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs574297562	chr22:31024544-31024545	Weak transcription Enhancers	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:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31003200-31031200	Weak transcription	Aorta	Aorta
2	chr22:31003800-31030600	Weak transcription	Thymus	Thymus
3	chr22:31006000-31030400	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr22:31006000-31030600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr22:31006000-31030600	Weak transcription	Colonic Mucosa	Colon
6	chr22:31006200-31030600	Weak transcription	Rectal Smooth Muscle	rectum
7	chr22:31006600-31030400	Weak transcription	Duodenum Mucosa	Duodenum
8	chr22:31006800-31030200	Weak transcription	Placenta	Placenta
9	chr22:31007000-31030600	Weak transcription	Fetal Brain Male	brain
10	chr22:31007600-31030200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr22:31008000-31030400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr22:31011600-31024400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr22:31011600-31026000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr22:31011800-31030200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr22:31011800-31030600	Weak transcription	Right Ventricle	heart
16	chr22:31012000-31030600	Weak transcription	Brain Angular Gyrus	brain
17	chr22:31012200-31024600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr22:31013600-31030600	Weak transcription	Pancreas	Pancrea
19	chr22:31013800-31030600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr22:31014000-31030200	Weak transcription	Brain Substantia Nigra	brain
21	chr22:31014000-31030400	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr22:31014000-31030800	Weak transcription	Gastric	stomach
23	chr22:31014000-31030800	Weak transcription	Ovary	ovary
24	chr22:31015000-31024200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr22:31015800-31030600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr22:31015800-31030600	Weak transcription	Fetal Lung	lung
27	chr22:31017000-31024000	Weak transcription	Brain Germinal Matrix	brain
28	chr22:31017000-31030400	Weak transcription	Stomach Smooth Muscle	stomach
29	chr22:31017000-31030600	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr22:31017200-31030600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr22:31017800-31024000	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr22:31019000-31030200	Weak transcription	Brain Cingulate Gyrus	brain
33	chr22:31019200-31030200	Weak transcription	Fetal Muscle Trunk	muscle
34	chr22:31019200-31030200	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr22:31019200-31030600	Weak transcription	Colon Smooth Muscle	Colon
36	chr22:31019200-31030600	Weak transcription	Left Ventricle	heart
37	chr22:31019200-31030800	Weak transcription	Lung	lung
38	chr22:31019600-31024000	Weak transcription	Fetal Muscle Leg	muscle
39	chr22:31019600-31024200	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr22:31021600-31024600	Weak transcription	Right Atrium	heart
41	chr22:31021600-31026400	Enhancers	Fetal Heart	heart
42	chr22:31022400-31025000	Enhancers	HUVEC	blood vessel
43	chr22:31022800-31024200	Weak transcription	Brain Hippocampus Middle	brain
44	chr22:31023000-31024600	Weak transcription	Fetal Intestine Large	intestine
45	chr22:31023000-31030600	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr22:31023000-31030600	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr22:31023000-31030600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr22:31023000-31030600	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr22:31023200-31024800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr22:31023200-31026000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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