Variant report

Variant	nsv962787
Chromosome Location	chr22:31672944-31674328
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:31670909..31673998-chr22:31741262..31743913,3	MCF-7	breast:
2	chr22:31667497..31670495-chr22:31671096..31674566,4	K562	blood:
3	chr22:31671882..31674678-chr22:31684555..31687561,3	K562	blood:
4	chr22:31671853..31673887-chr22:31677470..31679780,2	MCF-7	breast:
5	chr22:31669154..31671048-chr22:31673189..31676176,2	MCF-7	breast:
6	chr22:31657582..31659264-chr22:31672801..31675797,2	MCF-7	breast:
7	chr22:31670705..31674081-chr22:31684491..31687873,4	MCF-7	breast:
8	chr22:31670893..31672907-chr22:31673053..31674567,2	K562	blood:
9	chr22:31671882..31673528-chr22:31684555..31686967,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000100100	chromatin interactions
ENSG00000213888	chromatin interactions
ENSG00000182541	chromatin interactions
ENSG00000100105	chromatin interactions

Extended variants
information (count: 76 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:76 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369887567	chr22:31672946-31672947	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs145329401	chr22:31672965-31672966	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs12160336	chr22:31673000-31673001	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs147641710	chr22:31673003-31673004	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs140604561	chr22:31673047-31673048	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs144451762	chr22:31673063-31673064	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs151191437	chr22:31673067-31673068	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs371905356	chr22:31673088-31673089	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs559031525	chr22:31673092-31673093	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs3747153	chr22:31673111-31673112	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs374876905	chr22:31673114-31673115	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs3747154	chr22:31673116-31673117	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs554853322	chr22:31673119-31673120	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs574839495	chr22:31673148-31673149	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs543706608	chr22:31673152-31673153	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs369535285	chr22:31673158-31673159	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs563597002	chr22:31673159-31673160	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs372780750	chr22:31673161-31673162	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs575656341	chr22:31673168-31673169	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs112866018	chr22:31673172-31673173	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs199999246	chr22:31673173-31673174	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs369451698	chr22:31673174-31673175	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs375395300	chr22:31673201-31673202	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs527388244	chr22:31673213-31673214	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs562129928	chr22:31673230-31673231	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs547617724	chr22:31673260-31673261	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs143178912	chr22:31673347-31673348	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs529875538	chr22:31673361-31673362	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs3193836	chr22:31673383-31673384	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs550114149	chr22:31673398-31673399	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs3209491	chr22:31673400-31673401	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs3209490	chr22:31673402-31673403	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs113372548	chr22:31673403-31673404	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs569937733	chr22:31673416-31673417	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs578036206	chr22:31673418-31673419	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs57244615	chr22:31673419-31673420	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs73881364	chr22:31673420-31673421	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs5753535	chr22:31673450-31673451	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs5997934	chr22:31673459-31673460	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs552271617	chr22:31673460-31673461	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs5997935	chr22:31673464-31673465	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs566203262	chr22:31673475-31673476	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs5997936	chr22:31673478-31673479	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs112387690	chr22:31673486-31673487	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs191436790	chr22:31673504-31673505	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs148284356	chr22:31673505-31673506	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs537222967	chr22:31673574-31673575	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs557262825	chr22:31673575-31673576	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs577108316	chr22:31673581-31673582	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs545031870	chr22:31673608-31673609	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
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
Pancreatic cancer	17952125	CNVD
Amyotrophic lateral sclerosis	20858604	CNVD
Breast cancer	22522925	CNVD
Breast cancer	17142309	CNVD
Autism	22543975	CNVD

Chromatin state (count:171 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31645000-31677600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr22:31650200-31675600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr22:31650200-31679200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr22:31650600-31676400	Weak transcription	Hela-S3	cervix
5	chr22:31651800-31675800	Strong transcription	HMEC	breast
6	chr22:31652800-31675800	Strong transcription	NHEK	skin
7	chr22:31652800-31679400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr22:31653800-31676200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr22:31654000-31676400	Strong transcription	Thymus	Thymus
10	chr22:31654000-31680400	Strong transcription	Lung	lung
11	chr22:31654000-31685600	Strong transcription	Fetal Stomach	stomach
12	chr22:31654200-31677200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr22:31654200-31680200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr22:31654200-31680400	Strong transcription	Sigmoid Colon	Sigmoid Colon
15	chr22:31654400-31679600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr22:31655400-31680800	Weak transcription	K562	blood
17	chr22:31656800-31674000	Weak transcription	Brain Angular Gyrus	brain
18	chr22:31657800-31681200	Strong transcription	Adipose Nuclei	Adipose
19	chr22:31659000-31685600	Weak transcription	Psoas Muscle	Psoas
20	chr22:31659400-31678600	Strong transcription	Fetal Muscle Leg	muscle
21	chr22:31661400-31677800	Weak transcription	A549	lung
22	chr22:31661600-31673800	Strong transcription	Fetal Thymus	thymus
23	chr22:31661600-31674200	Strong transcription	Liver	Liver
24	chr22:31661800-31677000	Strong transcription	Spleen	Spleen
25	chr22:31661800-31677600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr22:31663800-31673000	Genic enhancers	Placenta	Placenta
27	chr22:31665600-31679400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr22:31665800-31678800	Strong transcription	Fetal Muscle Trunk	muscle
29	chr22:31666000-31682600	Strong transcription	Skeletal Muscle Female	skeletal muscle
30	chr22:31666000-31684200	Strong transcription	Aorta	Aorta
31	chr22:31666200-31675200	Strong transcription	HUES48 Cell Line	embryonic stem cell
32	chr22:31667000-31676200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
33	chr22:31667000-31676400	Strong transcription	Fetal Lung	lung
34	chr22:31667000-31684600	Weak transcription	Right Atrium	heart
35	chr22:31667400-31676800	Strong transcription	Osteobl	bone
36	chr22:31667400-31677200	Strong transcription	Dnd41	blood
37	chr22:31668000-31673400	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
38	chr22:31668000-31675000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr22:31668400-31674000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr22:31668400-31681200	Strong transcription	NHLF	lung
41	chr22:31668600-31674400	Strong transcription	NHDF-Ad	bronchial
42	chr22:31668800-31675400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr22:31668800-31680400	Strong transcription	Duodenum Smooth Muscle	Duodenum
44	chr22:31669000-31675800	Strong transcription	HUES6 Cell Line	embryonic stem cell
45	chr22:31669000-31676000	Strong transcription	H9 Cell Line	embryonic stem cell
46	chr22:31669000-31676200	Strong transcription	H1 Cell Line	embryonic stem cell
47	chr22:31669000-31676600	Strong transcription	HUES64 Cell Line	embryonic stem cell
48	chr22:31669000-31678800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
49	chr22:31669000-31679400	Strong transcription	Primary neutrophils fromperipheralblood	blood
50	chr22:31669000-31680200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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