Variant report

Variant	nsv1005221
Chromosome Location	chr4:21786702-21822000
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:1)
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	chr4:21793571..21796261-chr4:21796696..21799237,2	MCF-7	breast:
2	chr4:21790239..21792742-chr4:22389960..22391772,13	MCF-7	breast:
3	chr4:21793571..21796261-chr4:21796696..21799237,2	MCF-7	breast:
4	chr4:21790635..21791482-chr4:22083518..22084264,2	MCF-7	breast:
5	chr4:21790330..21793132-chr4:22390550..22391689,10	MCF-7	breast:
6	chr4:21791838..21792739-chr4:22130763..22131377,2	MCF-7	breast:
7	chr4:21791076..21791579-chr4:22691911..22692590,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GPR125-4	chr4:21805320-21805365	NONHSAT095742

No data

Extended variants
information (count: 1067 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:1067 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs578115214	chr4:21791404-21791405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs7659552	chr4:21791416-21791417	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs557536701	chr4:21791426-21791427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs561096046	chr4:21791435-21791436	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs184497560	chr4:21791527-21791528	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs146769977	chr4:21791545-21791546	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs140405159	chr4:21791577-21791578	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs542792201	chr4:21791589-21791590	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs573501255	chr4:21791648-21791649	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs374062436	chr4:21791651-21791652	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs540378570	chr4:21791658-21791659	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs149972365	chr4:21791667-21791668	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs373772191	chr4:21791686-21791687	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs115074308	chr4:21791687-21791688	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs371639992	chr4:21791706-21791707	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs573136875	chr4:21791721-21791722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs550241791	chr4:21791748-21791749	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs7664829	chr4:21791787-21791788	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs140331239	chr4:21791804-21791805	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs375622714	chr4:21791805-21791806	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs34019375	chr4:21791806-21791807	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs548192109	chr4:21791823-21791824	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs566604270	chr4:21791919-21791920	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs534103986	chr4:21791920-21791921	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs114243078	chr4:21791931-21791932	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs570190754	chr4:21791964-21791965	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs35489277	chr4:21791972-21791973	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs557475269	chr4:21791973-21791974	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs550839517	chr4:21791983-21791984	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs181167443	chr4:21791995-21791996	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs184188412	chr4:21791999-21792000	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs562661274	chr4:21792013-21792014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs536223406	chr4:21792019-21792020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs34903275	chr4:21792026-21792027	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs573416328	chr4:21792033-21792034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs188913639	chr4:21792057-21792058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs377275012	chr4:21792066-21792067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs73105917	chr4:21792076-21792077	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs372421187	chr4:21792095-21792096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs145201925	chr4:21792100-21792101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs181725776	chr4:21792132-21792133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs541421751	chr4:21792155-21792156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs114669578	chr4:21792157-21792158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs527329648	chr4:21792223-21792224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs113987543	chr4:21792227-21792228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs71193406	chr4:21792229-21792230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs376520591	chr4:21792236-21792237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs552477890	chr4:21792267-21792268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs570794123	chr4:21792279-21792280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs11932037	chr4:21792295-21792296	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
Oral squamous cell carcinoma	17134496	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Breast cancer	17133270	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Olfactory neuroblastoma	18408657	CNVD
Burkitt''s lymphoma	20823134	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
Cancer	22183965	CNVD
Gastric cancer	16891809	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:21791400-21791600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr4:21791400-21791600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr4:21791400-21791800	Enhancers	Brain Angular Gyrus	brain
4	chr4:21791400-21792000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr4:21791600-21792400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr4:21791600-21792800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr4:21792400-21792600	Enhancers	Muscle Satellite Cultured Cells	--
8	chr4:21792400-21792600	Enhancers	HSMMtube	muscle
9	chr4:21792400-21792800	Enhancers	Osteobl	bone
10	chr4:21792400-21793000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr4:21792400-21793000	Enhancers	NH-A	brain
12	chr4:21792400-21793200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr4:21792400-21793200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr4:21792400-21793400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr4:21792600-21793000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr4:21792600-21793000	Flanking Active TSS	HSMMtube	muscle
17	chr4:21792600-21793200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
18	chr4:21792600-21793400	Enhancers	HSMM	muscle
19	chr4:21792800-21793200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr4:21792800-21793200	Enhancers	Ovary	ovary
21	chr4:21792800-21793200	Flanking Active TSS	Osteobl	bone
22	chr4:21793000-21793400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr4:21793000-21793400	Flanking Active TSS	NH-A	brain
24	chr4:21793000-21794400	Enhancers	HSMMtube	muscle
25	chr4:21793200-21794200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr4:21793200-21794600	Enhancers	Muscle Satellite Cultured Cells	--
27	chr4:21793200-21794600	Enhancers	Osteobl	bone
28	chr4:21793400-21794000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr4:21793400-21794200	Weak transcription	HSMM	muscle
30	chr4:21794200-21794400	Enhancers	HSMM	muscle
31	chr4:21794200-21794600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr4:21794600-21803000	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr4:21803000-21803800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr4:21803000-21803800	Enhancers	HUVEC	blood vessel
35	chr4:21803000-21804800	Enhancers	HMEC	breast
36	chr4:21803000-21805000	Enhancers	Muscle Satellite Cultured Cells	--
37	chr4:21803000-21805000	Enhancers	HSMMtube	muscle
38	chr4:21803000-21805200	Enhancers	Osteobl	bone
39	chr4:21803200-21803800	Enhancers	NH-A	brain
40	chr4:21803400-21803600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr4:21803400-21805000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr4:21803400-21805200	Enhancers	HSMM	muscle
43	chr4:21803600-21804400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr4:21803600-21804600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr4:21803600-21804800	Enhancers	NHEK	skin
46	chr4:21803800-21804200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr4:21803800-21804200	Flanking Active TSS	HUVEC	blood vessel
48	chr4:21803800-21804200	Flanking Active TSS	NH-A	brain
49	chr4:21803800-21804800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr4:21803800-21805000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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