Variant report

Variant	nsv593791
Chromosome Location	chr4:20261786-20292239
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:20274898..20276936-chr4:20279121..20281549,2	MCF-7	breast:
2	chr4:20264521..20266805-chr4:20268448..20270041,2	K562	blood:
3	chr4:20274898..20276936-chr4:20279121..20281549,2	MCF-7	breast:
4	chr4:20271116..20273425-chr4:20275227..20278137,2	K562	blood:
5	chr4:20254313..20256018-chr4:20262688..20264505,2	MCF-7	breast:
6	chr4:20264521..20266805-chr4:20268448..20270041,2	K562	blood:
7	chr4:20271116..20273425-chr4:20275227..20278137,2	K562	blood:

Variant related genes	Relation type
ENSG00000145147	chromatin interactions

Extended variants
information (count: 1154 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:1154 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17534458	chr4:20261786-20261787	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs562416815	chr4:20261794-20261795	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs544487901	chr4:20261832-20261833	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs562871210	chr4:20261835-20261836	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs530206804	chr4:20261856-20261857	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs542037089	chr4:20261858-20261859	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs531212025	chr4:20261899-20261900	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs560595933	chr4:20261901-20261902	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs529037670	chr4:20261904-20261905	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs551232671	chr4:20261929-20261930	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs1865759	chr4:20261947-20261948	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs552677326	chr4:20261969-20261970	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs570739442	chr4:20261971-20261972	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs112790298	chr4:20261987-20261988	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs13152485	chr4:20261995-20261996	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs140386603	chr4:20262098-20262099	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs112968075	chr4:20262140-20262141	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs192023583	chr4:20262242-20262243	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs36082639	chr4:20262283-20262284	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs397779272	chr4:20262287-20262288	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs77742075	chr4:20262288-20262289	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs534354894	chr4:20262334-20262335	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs12648983	chr4:20262351-20262352	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs184977921	chr4:20262400-20262401	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs533642783	chr4:20262412-20262413	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs558653765	chr4:20262426-20262427	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs576408608	chr4:20262433-20262434	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs543830031	chr4:20262527-20262528	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs35730731	chr4:20262543-20262544	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs372617178	chr4:20262548-20262549	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs556408496	chr4:20262568-20262569	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs528235247	chr4:20262584-20262585	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs554140960	chr4:20262596-20262597	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs150386544	chr4:20262597-20262598	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs372599232	chr4:20262663-20262664	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs1923838	chr4:20262675-20262676	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs138144339	chr4:20262676-20262677	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs574110748	chr4:20262757-20262758	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs1323067	chr4:20262768-20262769	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs1923839	chr4:20262809-20262810	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs564623841	chr4:20262863-20262864	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs576972910	chr4:20262867-20262868	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs531703102	chr4:20262903-20262904	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs550208075	chr4:20262915-20262916	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs149562818	chr4:20262925-20262926	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs115788998	chr4:20262927-20262928	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs548505474	chr4:20262967-20262968	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs566535779	chr4:20263003-20263004	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs144263627	chr4:20263013-20263014	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs550147238	chr4:20263021-20263022	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
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
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
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	17908972	CNVD
Olfactory neuroblastoma	18408657	CNVD
Burkitt''s lymphoma	20823134	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD
Cancer	20164919	CNVD
Colorectal cancer	16774939	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:430 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:20257600-20266200	Weak transcription	HMEC	breast
2	chr4:20257600-20268200	Weak transcription	Brain Angular Gyrus	brain
3	chr4:20257800-20268400	Weak transcription	Brain Hippocampus Middle	brain
4	chr4:20258000-20264400	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr4:20258000-20275400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr4:20258200-20299400	Weak transcription	Fetal Stomach	stomach
7	chr4:20258400-20266200	Weak transcription	NHEK	skin
8	chr4:20258400-20274000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr4:20259000-20269600	Weak transcription	HUVEC	blood vessel
10	chr4:20259200-20267600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr4:20259400-20266000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr4:20259800-20262600	Weak transcription	Colon Smooth Muscle	Colon
13	chr4:20260000-20262400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr4:20260000-20265800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr4:20260000-20273600	Weak transcription	Fetal Kidney	kidney
16	chr4:20260000-20273800	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr4:20260000-20276200	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr4:20260400-20262800	Genic enhancers	NHDF-Ad	bronchial
19	chr4:20261000-20262600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr4:20261400-20261800	Enhancers	NHLF	lung
21	chr4:20261400-20262400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr4:20261600-20262400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr4:20261600-20262400	Weak transcription	Fetal Lung	lung
24	chr4:20261600-20263400	Weak transcription	Osteobl	bone
25	chr4:20261600-20263800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr4:20261600-20264400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr4:20261600-20268000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr4:20261800-20273200	Weak transcription	NHLF	lung
29	chr4:20262400-20262600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr4:20262400-20264400	Genic enhancers	Fetal Lung	lung
31	chr4:20262400-20265600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr4:20262400-20266800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr4:20262600-20262800	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr4:20262600-20263000	Enhancers	Colon Smooth Muscle	Colon
35	chr4:20262600-20268000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr4:20262800-20263000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr4:20262800-20265800	Strong transcription	NHDF-Ad	bronchial
38	chr4:20263000-20268400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr4:20263000-20272000	Weak transcription	Colon Smooth Muscle	Colon
40	chr4:20263400-20264800	Strong transcription	Osteobl	bone
41	chr4:20263800-20264800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr4:20264400-20265400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr4:20264400-20265800	Enhancers	Placenta Amnion	Placenta Amnion
44	chr4:20264400-20268000	Strong transcription	Fetal Lung	lung
45	chr4:20264800-20267600	Weak transcription	Osteobl	bone
46	chr4:20264800-20273800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr4:20265400-20267400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr4:20265600-20267600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr4:20265800-20268000	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr4:20265800-20268000	Weak transcription	NHDF-Ad	bronchial

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