Variant report

Variant	nsv1029100
Chromosome Location	chr7:110782696-110899748
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:76)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:76 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr7:110843078..110846205-chr7:110849161..110854141,4	K562	blood:
2	chr7:110843078..110844596-chr7:110851457..110854141,2	K562	blood:
3	chr7:110784339..110787250-chr7:110788420..110790472,2	K562	blood:
4	chr7:110828459..110830042-chr7:110834757..110837365,2	K562	blood:
5	chr7:110867615..110870539-chr7:110870998..110875749,6	K562	blood:
6	chr7:110838767..110841477-chr7:110867993..110870087,3	K562	blood:
7	chr7:110827684..110829363-chr7:110849997..110851639,2	K562	blood:
8	chr7:110867615..110870539-chr7:110870998..110875749,6	K562	blood:
9	chr7:110860948..110867491-chr7:110867576..110875570,9	K562	blood:
10	chr7:110822071..110825302-chr7:110827142..110830150,3	K562	blood:
11	chr7:110807402..110810065-chr7:110811637..110813724,2	K562	blood:
12	chr7:110831361..110833166-chr7:110833300..110836060,2	K562	blood:
13	chr7:110890356..110892390-chr7:110893967..110896589,2	K562	blood:
14	chr7:110845330..110847607-chr7:110862386..110864699,2	K562	blood:
15	chr7:110784339..110787250-chr7:110788420..110790472,2	K562	blood:
16	chr7:110858722..110860508-chr7:110869419..110871427,2	K562	blood:
17	chr7:110873178..110876028-chr7:110879023..110881102,2	K562	blood:
18	chr7:110799581..110802084-chr7:110811577..110813562,2	K562	blood:
19	chr7:110790879..110793527-chr7:110798511..110801255,3	K562	blood:
20	chr7:110876830..110878652-chr7:110880390..110881983,2	K562	blood:
21	chr7:110838767..110841477-chr7:110867993..110870087,3	K562	blood:
22	chr7:110845330..110847607-chr7:110862386..110864699,2	K562	blood:
23	chr7:110875743..110879019-chr7:110880390..110884102,5	K562	blood:
24	chr7:110836787..110838968-chr7:110842164..110843669,2	K562	blood:
25	chr7:110812015..110813631-chr7:110817074..110819107,2	K562	blood:
26	chr7:110864193..110867019-chr7:110872692..110875184,2	K562	blood:
27	chr7:110858379..110861216-chr7:110867269..110869936,2	MCF-7	breast:
28	chr7:110846458..110850024-chr7:110851219..110853852,3	MCF-7	breast:
29	chr7:110876830..110878652-chr7:110880390..110881983,2	K562	blood:
30	chr7:110838168..110840806-chr7:110845021..110846527,2	K562	blood:
31	chr7:110846499..110848352-chr7:110867218..110869031,2	MCF-7	breast:
32	chr7:110850499..110852525-chr7:110861582..110863250,2	K562	blood:
33	chr7:110858722..110860508-chr7:110869419..110871427,2	K562	blood:
34	chr7:110827684..110829363-chr7:110849997..110851639,2	K562	blood:
35	chr7:110794617..110796472-chr7:110809802..110811971,2	K562	blood:
36	chr7:110792860..110795164-chr7:110801067..110803231,2	MCF-7	breast:
37	chr7:110846499..110848352-chr7:110867218..110869031,2	MCF-7	breast:
38	chr7:110867615..110869914-chr7:110870998..110874841,5	K562	blood:
39	chr22:44608071..44610413-chr7:110807681..110810371,2	MCF-7	breast:
40	chr7:110792860..110795164-chr7:110801067..110803231,2	MCF-7	breast:
41	chr7:110838168..110840806-chr7:110845021..110846527,2	K562	blood:
42	chr7:110812015..110813631-chr7:110817074..110819107,2	K562	blood:
43	chr7:110850499..110852525-chr7:110861582..110863250,2	K562	blood:
44	chr7:110794617..110796472-chr7:110809802..110811971,2	K562	blood:
45	chr7:110780555..110783082-chr7:110783527..110786521,2	K562	blood:
46	chr7:110843078..110844596-chr7:110851457..110854141,2	K562	blood:
47	chr7:110787029..110788702-chr7:110791625..110793971,2	K562	blood:
48	chr7:110846405..110848807-chr7:110859320..110861910,2	K562	blood:
49	chr7:110846458..110850024-chr7:110851219..110853852,3	MCF-7	breast:
50	chr7:110873178..110876028-chr7:110879023..110881102,2	K562	blood:

No data

Extended variants
information (count: 3855 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:3855 , 50 per page) page: 1 2 3 4 5 6 7 ... 78

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs214845	chr7:110782696-110782697	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs573628488	chr7:110782821-110782822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs549957381	chr7:110782852-110782853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs532937901	chr7:110782878-110782879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs147992521	chr7:110782893-110782894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs371040275	chr7:110782896-110782897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs182942395	chr7:110782913-110782914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs142001851	chr7:110782933-110782934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs544502355	chr7:110782960-110782961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs564567283	chr7:110783018-110783019	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs533578578	chr7:110783038-110783039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs546828925	chr7:110783043-110783044	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs551945731	chr7:110783044-110783045	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs560655361	chr7:110783089-110783090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs529332769	chr7:110783098-110783099	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs571599828	chr7:110783155-110783156	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs549430931	chr7:110783174-110783175	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs569252344	chr7:110783220-110783221	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs73714675	chr7:110783224-110783225	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs117720278	chr7:110783226-110783227	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs555454076	chr7:110783255-110783256	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs188837414	chr7:110783286-110783287	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs147334213	chr7:110783344-110783345	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs214844	chr7:110783353-110783354	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs575755330	chr7:110783364-110783365	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs139218215	chr7:110783373-110783374	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs10242573	chr7:110783387-110783388	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs536001754	chr7:110783402-110783403	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs2107145	chr7:110783461-110783462	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs572750872	chr7:110783520-110783521	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs575625757	chr7:110783624-110783625	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs528914072	chr7:110783643-110783644	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs564802138	chr7:110783675-110783676	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs192857101	chr7:110783692-110783693	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs578165198	chr7:110783693-110783694	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs540835371	chr7:110783712-110783713	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs370897742	chr7:110783718-110783719	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs28524030	chr7:110783799-110783800	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs529435611	chr7:110783826-110783827	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs116084965	chr7:110783828-110783829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs562910550	chr7:110783833-110783834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs531741751	chr7:110783841-110783842	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs143219495	chr7:110783851-110783852	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs571535388	chr7:110783895-110783896	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs571363841	chr7:110783909-110783910	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs533830544	chr7:110783935-110783936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs547598966	chr7:110783952-110783953	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs576324090	chr7:110783973-110783974	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs147470391	chr7:110783980-110783981	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs77595745	chr7:110783988-110783989	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	16864856	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Squamous cell cancer	20885788	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	16397240	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	23792589	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Autism	19401682	CNVD
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
small cell lung cancer	20016488	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
T-cell lymphomas	22341440	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Dyslexia	22102821	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Attention deficit hyperactivity disorder	19546859	CNVD
Schizophrenia	23813976	CNVD
Autism	20531469	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	21509527	CNVD
Glioma	20126413	CNVD

Chromatin state (count:510 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:110778000-110787400	Weak transcription	Aorta	Aorta
2	chr7:110778400-110784400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr7:110780400-110784000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr7:110780600-110783000	Weak transcription	Colon Smooth Muscle	Colon
5	chr7:110783000-110784200	Enhancers	Colon Smooth Muscle	Colon
6	chr7:110784000-110784400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr7:110784400-110784600	Enhancers	Sigmoid Colon	Sigmoid Colon
8	chr7:110784400-110788000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr7:110785000-110785800	Enhancers	Psoas Muscle	Psoas
10	chr7:110785400-110786000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr7:110785400-110786000	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr7:110785600-110786000	Enhancers	Muscle Satellite Cultured Cells	--
13	chr7:110785600-110786000	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr7:110785800-110787400	Weak transcription	Psoas Muscle	Psoas
15	chr7:110787400-110787800	Enhancers	Aorta	Aorta
16	chr7:110787400-110787800	Enhancers	Psoas Muscle	Psoas
17	chr7:110787800-110790400	Weak transcription	Aorta	Aorta
18	chr7:110788000-110788200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr7:110788200-110788600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr7:110788600-110788800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr7:110790400-110790600	Enhancers	Aorta	Aorta
22	chr7:110794800-110795000	Enhancers	Left Ventricle	heart
23	chr7:110796800-110797400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr7:110797000-110797400	Enhancers	Primary T helper cells PMA-I stimulated	--
25	chr7:110797000-110797400	Enhancers	Dnd41	blood
26	chr7:110797000-110797600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr7:110799000-110803000	Enhancers	Muscle Satellite Cultured Cells	--
28	chr7:110799200-110799600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr7:110799400-110800000	Enhancers	NHEK	skin
30	chr7:110799400-110800200	Enhancers	HMEC	breast
31	chr7:110799400-110800200	Enhancers	NH-A	brain
32	chr7:110799400-110800200	Enhancers	Osteobl	bone
33	chr7:110799400-110800600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr7:110799400-110800600	Enhancers	NHDF-Ad	bronchial
35	chr7:110799600-110800200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr7:110799600-110800200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr7:110799600-110804400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr7:110800200-110801200	Weak transcription	Osteobl	bone
39	chr7:110800600-110801000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr7:110801000-110801800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr7:110801200-110801800	Enhancers	Osteobl	bone
42	chr7:110801800-110802600	Weak transcription	Osteobl	bone
43	chr7:110802200-110803600	Enhancers	HepG2	liver
44	chr7:110802600-110802800	Enhancers	Osteobl	bone
45	chr7:110803000-110803400	Enhancers	Lung	lung
46	chr7:110803400-110808000	Weak transcription	Lung	lung
47	chr7:110804400-110804600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr7:110804400-110805200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr7:110804600-110805400	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr7:110805000-110805400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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