Variant report

Variant	nsv516312
Chromosome Location	chr22:29153759-29160314
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:29156118..29157971-chr22:29167441..29169542,2	MCF-7	breast:
2	chr22:29156021..29156832-chr6:26157915..26158484,2	MCF-7	breast:
3	chr22:29144367..29147213-chr22:29158314..29160831,2	MCF-7	breast:
4	chr22:29151815..29154169-chr22:29184646..29186865,2	MCF-7	breast:
5	chr22:29160228..29162421-chr22:29163299..29165461,2	MCF-7	breast:
6	chr22:29135896..29138704-chr22:29152370..29155070,2	MCF-7	breast:
7	chr22:29137252..29140773-chr22:29152307..29154305,3	MCF-7	breast:
8	chr22:29155529..29158980-chr22:29193770..29197123,3	MCF-7	breast:
9	chr22:29137096..29139217-chr22:29159531..29161913,3	MCF-7	breast:
10	chr22:29154766..29156419-chr22:29187780..29189689,2	MCF-7	breast:
11	chr22:29090716..29093047-chr22:29154418..29156765,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000183765	chromatin interactions
ENSG00000158373	chromatin interactions
ENSG00000226471	chromatin interactions
ENSG00000100219	chromatin interactions
ENSG00000100209	chromatin interactions
ENSG00000159873	chromatin interactions

Extended variants
information (count: 241 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:241 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs5752792	chr22:29153759-29153760	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	mRNA abundance
2	rs74422122	chr22:29153760-29153761	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs28413867	chr22:29153765-29153766	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs188529349	chr22:29153772-29153773	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs533111558	chr22:29153875-29153876	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs181295060	chr22:29153884-29153885	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs139787647	chr22:29153885-29153886	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs528547855	chr22:29153911-29153912	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs549874360	chr22:29153915-29153916	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs569858886	chr22:29153916-29153917	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs28432039	chr22:29153946-29153947	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs541372658	chr22:29154000-29154001	ZNF genes & repeats Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs556946897	chr22:29154016-29154017	ZNF genes & repeats Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs142295517	chr22:29154030-29154031	ZNF genes & repeats Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs115463821	chr22:29154050-29154051	ZNF genes & repeats Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs116780059	chr22:29154070-29154071	ZNF genes & repeats Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs529323656	chr22:29154110-29154111	ZNF genes & repeats Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs146390770	chr22:29154131-29154132	ZNF genes & repeats Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs544230184	chr22:29154168-29154169	ZNF genes & repeats Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs569107388	chr22:29154209-29154210	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs533094988	chr22:29154231-29154232	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs6005861	chr22:29154237-29154238	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs184341847	chr22:29154283-29154284	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs533586379	chr22:29154344-29154345	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs555033683	chr22:29154451-29154452	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs5997397	chr22:29154455-29154456	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs372966477	chr22:29154460-29154461	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs536023740	chr22:29154500-29154501	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs188254786	chr22:29154527-29154528	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs575859693	chr22:29154531-29154532	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs139722485	chr22:29154537-29154538	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs142910528	chr22:29154541-29154542	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs573265476	chr22:29154550-29154551	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs535027647	chr22:29154600-29154601	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs540665769	chr22:29154601-29154602	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs181032642	chr22:29154602-29154603	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs6005862	chr22:29154603-29154604	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs139790193	chr22:29154645-29154646	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs562553394	chr22:29154646-29154647	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs533203912	chr22:29154650-29154651	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs551256548	chr22:29154654-29154655	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs566468046	chr22:29154655-29154656	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs187110980	chr22:29154661-29154662	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs548596111	chr22:29154679-29154680	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs5762781	chr22:29154714-29154715	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs62235729	chr22:29154729-29154730	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs34633563	chr22:29154732-29154733	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs548555203	chr22:29154733-29154734	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs60555013	chr22:29154750-29154751	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs192385674	chr22:29154788-29154789	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
abnormal development	18461090	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
small cell lung cancer	20016488	CNVD
Cancer	21183584	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Cat eye syndrome	16708226	CNVD
Olfactory neuroblastoma	18408657	CNVD
Renal cell carcinoma	18765545	CNVD
Schizophrenia	19521646	CNVD
Schizophrenia	18990708	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Hepatocellular carcinoma	16750200	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	21829676	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:206 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29139200-29153800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr22:29139400-29156400	Weak transcription	Stomach Mucosa	stomach
3	chr22:29139800-29156000	Weak transcription	HMEC	breast
4	chr22:29140800-29155800	Weak transcription	Fetal Brain Female	brain
5	chr22:29141200-29156400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr22:29143400-29156600	Weak transcription	Brain Substantia Nigra	brain
7	chr22:29143600-29154000	Weak transcription	Thymus	Thymus
8	chr22:29143600-29155600	Weak transcription	Gastric	stomach
9	chr22:29143600-29160000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr22:29143800-29155600	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr22:29143800-29156000	Weak transcription	Rectal Smooth Muscle	rectum
12	chr22:29143800-29156400	Weak transcription	Brain Angular Gyrus	brain
13	chr22:29144400-29156200	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr22:29144400-29156200	Weak transcription	Brain Hippocampus Middle	brain
15	chr22:29144400-29156200	Weak transcription	Duodenum Mucosa	Duodenum
16	chr22:29144600-29155600	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr22:29144600-29155800	Weak transcription	Brain Germinal Matrix	brain
18	chr22:29144800-29154600	Weak transcription	Right Atrium	heart
19	chr22:29145200-29154800	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr22:29145400-29154800	Weak transcription	Left Ventricle	heart
21	chr22:29145400-29155400	Weak transcription	Colon Smooth Muscle	Colon
22	chr22:29145400-29157200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr22:29145600-29155400	Weak transcription	HSMM	muscle
24	chr22:29145600-29155600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr22:29145600-29155600	Weak transcription	HSMMtube	muscle
26	chr22:29145800-29153800	Weak transcription	Fetal Thymus	thymus
27	chr22:29145800-29155800	Weak transcription	Ovary	ovary
28	chr22:29145800-29156200	Weak transcription	Spleen	Spleen
29	chr22:29145800-29156600	Weak transcription	Stomach Smooth Muscle	stomach
30	chr22:29145800-29168000	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr22:29146000-29155400	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr22:29146000-29155400	Weak transcription	HepG2	liver
33	chr22:29146000-29155600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr22:29146000-29155600	Weak transcription	Colonic Mucosa	Colon
35	chr22:29146000-29155800	Weak transcription	Brain Anterior Caudate	brain
36	chr22:29146000-29155800	Weak transcription	GM12878-XiMat	blood
37	chr22:29146000-29156400	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr22:29146000-29156600	Weak transcription	Adipose Nuclei	Adipose
39	chr22:29146600-29156200	Weak transcription	Primary B cells from cord blood	blood
40	chr22:29146800-29156600	Weak transcription	Primary T cells from cord blood	blood
41	chr22:29146800-29156600	Weak transcription	Fetal Intestine Large	intestine
42	chr22:29147200-29155800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr22:29147400-29155800	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr22:29147400-29156000	Weak transcription	Hela-S3	cervix
45	chr22:29147400-29156200	Weak transcription	Brain Cingulate Gyrus	brain
46	chr22:29147600-29155600	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr22:29147800-29155600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr22:29147800-29155600	Weak transcription	Primary B cells from peripheral blood	blood
49	chr22:29147800-29155800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr22:29147800-29156400	Weak transcription	Lung	lung

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