Variant report

Variant	nsv521086
Chromosome Location	chr5:126519351-126525350
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCL3	chr5:126523456-126523714	GM12878	blood:	n/a	n/a
2	BHLHE40	chr5:126520200-126520313	K562	blood:	n/a	n/a
3	CTCF	chr5:126521140-126521290	GM12869	blood:	n/a	n/a
4	EP300	chr5:126520584-126520783	SK-N-SH_RA	brain:	n/a	n/a
5	EP300	chr5:126523440-126523697	SK-N-SH_RA	brain:	n/a	n/a
6	FOS	chr5:126522502-126522669	MCF10A-Er-Src	breast:	n/a	n/a
7	GATA3	chr5:126524275-126524474	SH-SY5Y	brain:	n/a	n/a
8	POLR2A	chr5:126520855-126520981	MCF-7	breast:	n/a	n/a
9	SPI1	chr5:126524668-126524859	K562	blood:	n/a	chr5:126524776-126524789
10	STAT3	chr5:126520376-126520404	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:126501750..126504423-chr5:126518489..126521210,2	K562	blood:
2	chr17:32786221..32786983-chr5:126519202..126519917,2	MCF-7	breast:
3	chr5:126214300..126217268-chr5:126520961..126522578,2	K562	blood:

Variant related genes	Relation type
ENSG00000250956	TF binding region

Extended variants
information (count: 279 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:279 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs248111	chr5:126519351-126519352	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs535709305	chr5:126519356-126519357	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs144567993	chr5:126519370-126519371	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs199542896	chr5:126519376-126519377	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs555265926	chr5:126519377-126519378	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs180740179	chr5:126519381-126519382	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs56171951	chr5:126519421-126519422	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs59671995	chr5:126519427-126519428	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs376821934	chr5:126519440-126519441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs111832154	chr5:126519444-126519445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs374229507	chr5:126519451-126519452	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs577760076	chr5:126519503-126519504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs543551903	chr5:126519505-126519506	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs202238501	chr5:126519509-126519510	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs11300159	chr5:126519510-126519511	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs397884086	chr5:126519512-126519513	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs557489115	chr5:126519526-126519527	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs150869914	chr5:126519541-126519542	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs139313973	chr5:126519552-126519553	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs543277158	chr5:126519559-126519560	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs144247581	chr5:126519566-126519567	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs146547399	chr5:126519607-126519608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs367699478	chr5:126519611-126519612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs541075768	chr5:126519619-126519620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs140022435	chr5:126519629-126519630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs184364663	chr5:126519634-126519635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs575189140	chr5:126519650-126519651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs371522821	chr5:126519651-126519652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs569806518	chr5:126519663-126519664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs143524933	chr5:126519669-126519670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs146751337	chr5:126519685-126519686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs202062480	chr5:126519704-126519705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs371666138	chr5:126519705-126519706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs372242192	chr5:126519706-126519707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs72034669	chr5:126519715-126519716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs397814287	chr5:126519717-126519718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs374885273	chr5:126519718-126519719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs534691601	chr5:126519724-126519725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs557680021	chr5:126519738-126519739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs148883964	chr5:126519739-126519740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs375409451	chr5:126519748-126519749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs537516994	chr5:126519805-126519806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs248112	chr5:126519810-126519811	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs574155276	chr5:126519832-126519833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs80293626	chr5:126519851-126519852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs553701082	chr5:126519886-126519887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs4310013	chr5:126519887-126519888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs34902185	chr5:126519906-126519907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs573531925	chr5:126519926-126519927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs143559656	chr5:126519974-126519975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

Disease	PMID	Source
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Myelofibrosis	22110671	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
Basal cell lymphoma	17053054	CNVD
Breast cancer	16397240	CNVD
Parathyroid adenoma	22454399	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Malignant fibrous histiocytomas	21085701	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126519200-126519600	Enhancers	Fetal Muscle Leg	muscle
2	chr5:126519600-126520000	Weak transcription	Fetal Muscle Leg	muscle
3	chr5:126519800-126522400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr5:126520000-126521000	Enhancers	Fetal Muscle Leg	muscle
5	chr5:126520200-126520400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr5:126520200-126521200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr5:126520400-126521000	Bivalent Enhancer	NHDF-Ad	bronchial
8	chr5:126520600-126522400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr5:126521000-126522000	Weak transcription	Fetal Muscle Leg	muscle
10	chr5:126521200-126522400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr5:126521400-126521600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr5:126522000-126522800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr5:126522000-126523600	Enhancers	Fetal Muscle Leg	muscle
14	chr5:126522400-126522600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr5:126522400-126522800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr5:126522400-126522800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr5:126522400-126523600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr5:126522400-126523600	Enhancers	HSMM	muscle
19	chr5:126522600-126523000	Enhancers	Muscle Satellite Cultured Cells	--
20	chr5:126523000-126523200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr5:126523400-126523600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr5:126523400-126523600	Enhancers	Brain Cingulate Gyrus	brain
23	chr5:126523600-126524400	Weak transcription	Fetal Muscle Leg	muscle
24	chr5:126523600-126526400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr5:126523600-126528200	Weak transcription	HSMM	muscle
26	chr5:126524400-126524600	Enhancers	Fetal Muscle Leg	muscle

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