Variant report

Variant	nsv593565
Chromosome Location	chr4:7219933-7265635
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:26)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:26 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:7228120..7231404-chr4:7234917..7238426,3	MCF-7	breast:
2	chr4:7221845..7224931-chr4:7225932..7229288,3	MCF-7	breast:
3	chr4:7222332..7226534-chr4:7227411..7230049,3	K562	blood:
4	chr4:7218044..7221709-chr4:7224242..7227434,3	MCF-7	breast:
5	chr4:7221313..7223378-chr4:7286434..7289285,2	MCF-7	breast:
6	chr4:7221957..7224622-chr4:7226815..7228448,2	MCF-7	breast:
7	chr4:7225034..7227049-chr4:7228519..7230388,2	K562	blood:
8	chr4:7261309..7263686-chr4:7264453..7266541,2	MCF-7	breast:
9	chr4:7206601..7211968-chr4:7218042..7220956,6	MCF-7	breast:
10	chr4:7213661..7215472-chr4:7265582..7267704,2	MCF-7	breast:
11	chr4:7218044..7221709-chr4:7224242..7227434,3	MCF-7	breast:
12	chr4:7225034..7227049-chr4:7228519..7230388,2	K562	blood:
13	chr4:7222332..7226534-chr4:7227411..7230049,3	K562	blood:
14	chr4:7213265..7217793-chr4:7218088..7221480,5	MCF-7	breast:
15	chr4:7221845..7224931-chr4:7225932..7229288,3	MCF-7	breast:
16	chr4:7222332..7224319-chr4:7228549..7231092,2	K562	blood:
17	chr4:7211941..7214123-chr4:7236956..7238612,2	MCF-7	breast:
18	chr4:7216458..7218231-chr4:7235155..7236680,2	K562	blood:
19	chr4:7221957..7224622-chr4:7226815..7228448,2	MCF-7	breast:
20	chr4:7261309..7263686-chr4:7264453..7266541,2	MCF-7	breast:
21	chr4:7228120..7231404-chr4:7234917..7238426,3	MCF-7	breast:
22	chr4:7248341..7250372-chr4:7253151..7255642,2	MCF-7	breast:
23	chr4:7248341..7250372-chr4:7253151..7255642,2	MCF-7	breast:
24	chr4:7195064..7196941-chr4:7218562..7221333,2	MCF-7	breast:
25	chr4:7194397..7197077-chr4:7223002..7225801,2	MCF-7	breast:
26	chr4:7222332..7224319-chr4:7228549..7231092,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TADA2B-4	chr4:7264564-7264801	NONHSAT095054
2	lnc-TADA2B-4	chr4:7259241-7259517	NONHSAT095054

No data

Extended variants
information (count: 2345 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:2345 , 50 per page) page: 1 2 3 4 5 6 7 ... 47

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4234798	chr4:7219933-7219934	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
2	rs527508970	chr4:7219939-7219940	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs551571072	chr4:7219984-7219985	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs904980	chr4:7220008-7220009	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs534125415	chr4:7220028-7220029	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs549120014	chr4:7220029-7220030	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs111763962	chr4:7220038-7220039	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs374077863	chr4:7220059-7220060	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs548748601	chr4:7220072-7220073	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs556838414	chr4:7220073-7220074	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs575115444	chr4:7220109-7220110	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs561274145	chr4:7220132-7220133	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs112837952	chr4:7220150-7220151	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs141762052	chr4:7220176-7220177	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs572927615	chr4:7220182-7220183	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs60813460	chr4:7220243-7220244	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs566055912	chr4:7220298-7220299	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs184173594	chr4:7220372-7220373	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs114157796	chr4:7220375-7220376	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs10003000	chr4:7220444-7220445	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs56276913	chr4:7220478-7220479	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs147592786	chr4:7220479-7220480	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs57971854	chr4:7220489-7220490	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs527740664	chr4:7220491-7220492	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs16839840	chr4:7220548-7220549	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs566950386	chr4:7220549-7220550	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs188677343	chr4:7220596-7220597	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs538078397	chr4:7220627-7220628	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs904979	chr4:7220647-7220648	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs555672772	chr4:7220650-7220651	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs67843577	chr4:7220720-7220721	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs58380707	chr4:7220723-7220724	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs373832067	chr4:7220730-7220731	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs571954169	chr4:7220735-7220736	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs538112877	chr4:7220742-7220743	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs557693009	chr4:7220748-7220749	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs193223625	chr4:7220753-7220754	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs556136339	chr4:7220794-7220795	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs904978	chr4:7220832-7220833	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs376522873	chr4:7220892-7220893	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs67438055	chr4:7220893-7220894	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs56830789	chr4:7220895-7220896	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs549739331	chr4:7220897-7220898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs553482833	chr4:7220913-7220914	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs57092836	chr4:7220914-7220915	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs201509440	chr4:7220915-7220916	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs12646845	chr4:7220921-7220922	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs182627273	chr4:7220936-7220937	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs12649616	chr4:7220975-7220976	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs544437821	chr4:7221002-7221003	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Melanoma	20688739	CNVD
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	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
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21509527	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Schizophrenia	22241247	CNVD
Autosomal-dominant microtia	18179897	CNVD
Glioma	17123091	CNVD
Colorectal cancer	20459617	CNVD
Breast cancer	17133270	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:652 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7210400-7222400	Weak transcription	Brain Anterior Caudate	brain
2	chr4:7212800-7225400	Weak transcription	Ovary	ovary
3	chr4:7216600-7228600	Weak transcription	Right Atrium	heart
4	chr4:7216800-7227200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr4:7218000-7220400	Enhancers	HSMMtube	muscle
6	chr4:7218000-7221000	Enhancers	Liver	Liver
7	chr4:7218600-7220600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr4:7218600-7220800	Enhancers	Lung	lung
9	chr4:7218600-7228600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr4:7218800-7220000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
11	chr4:7218800-7221800	Enhancers	HSMM	muscle
12	chr4:7219000-7220000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr4:7219000-7220000	Enhancers	Brain Cingulate Gyrus	brain
14	chr4:7219000-7220000	Flanking Active TSS	Hela-S3	cervix
15	chr4:7219000-7220200	Flanking Active TSS	A549	lung
16	chr4:7219200-7220000	Enhancers	Fetal Stomach	stomach
17	chr4:7219200-7220000	Enhancers	Stomach Mucosa	stomach
18	chr4:7219200-7220200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr4:7219200-7220800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr4:7219200-7220800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr4:7219400-7220000	Enhancers	NH-A	brain
22	chr4:7219400-7220600	Enhancers	Pancreas	Pancrea
23	chr4:7219600-7220000	Bivalent Enhancer	Fetal Muscle Leg	muscle
24	chr4:7219600-7220000	Enhancers	HepG2	liver
25	chr4:7219600-7220600	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr4:7219600-7220800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr4:7219600-7220800	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr4:7219800-7220400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr4:7219800-7220400	Weak transcription	Right Ventricle	heart
30	chr4:7220000-7220400	Weak transcription	NH-A	brain
31	chr4:7220000-7220800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr4:7220000-7220800	Enhancers	Fetal Muscle Leg	muscle
33	chr4:7220000-7221000	Enhancers	Hela-S3	cervix
34	chr4:7220000-7224200	Weak transcription	Brain Cingulate Gyrus	brain
35	chr4:7220200-7221000	Enhancers	A549	lung
36	chr4:7220400-7220600	Enhancers	Right Ventricle	heart
37	chr4:7220400-7220600	Enhancers	NH-A	brain
38	chr4:7220400-7220800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr4:7220400-7220800	Flanking Active TSS	HSMMtube	muscle
40	chr4:7220600-7220800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
41	chr4:7220600-7221800	Weak transcription	Pancreas	Pancrea
42	chr4:7220600-7224200	Weak transcription	NH-A	brain
43	chr4:7220800-7221200	Enhancers	HSMMtube	muscle
44	chr4:7220800-7223600	Weak transcription	Lung	lung
45	chr4:7220800-7225400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr4:7220800-7227800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr4:7221000-7224600	Weak transcription	A549	lung
48	chr4:7221000-7224800	Weak transcription	Hela-S3	cervix
49	chr4:7221200-7224600	Weak transcription	HSMMtube	muscle
50	chr4:7221800-7222000	Enhancers	Pancreas	Pancrea

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