Variant report

Variant	nsv968963
Chromosome Location	chr5:97548970-97550079
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	CTCF	chr5:97549671-97549705	GM20000	blood:	n/a	n/a
2	POLR2A	chr5:97549457-97549568	Gliobla	brain:	n/a	n/a
3	POLR2A	chr5:97548799-97548999	MCF10A-Er-Src	breast:	n/a	n/a
4	POLR2A	chr5:97549589-97549617	Gliobla	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:97546193..97548925-chr5:97549441..97552160,2	K562	blood:

Variant related genes	Relation type
ENSG00000238000	TF binding region

Extended variants
information (count: 50 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:50 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557275322	chr5:97549009-97549010	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs565600849	chr5:97549014-97549015	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs376769040	chr5:97549046-97549047	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs370623163	chr5:97549058-97549059	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs561382735	chr5:97549086-97549087	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs114045619	chr5:97549095-97549096	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs554689877	chr5:97549120-97549121	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs557527122	chr5:97549122-97549123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs192230453	chr5:97549127-97549128	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs149929927	chr5:97549128-97549129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs61733886	chr5:97549136-97549137	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs577959343	chr5:97549137-97549138	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs536734252	chr5:97549213-97549214	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs371748796	chr5:97549223-97549224	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs62366814	chr5:97549285-97549286	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs565065412	chr5:97549286-97549287	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs530840095	chr5:97549291-97549292	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs112688572	chr5:97549300-97549301	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs560746497	chr5:97549311-97549312	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs4535477	chr5:97549366-97549367	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs546418007	chr5:97549377-97549378	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs571503833	chr5:97549410-97549411	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs368637960	chr5:97549474-97549475	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs550769653	chr5:97549488-97549489	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs569181812	chr5:97549505-97549506	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs536572551	chr5:97549562-97549563	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs556946384	chr5:97549606-97549607	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs554933737	chr5:97549638-97549639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs190813711	chr5:97549642-97549643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs534299587	chr5:97549645-97549646	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs559049669	chr5:97549646-97549647	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs148740000	chr5:97549651-97549652	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs573576205	chr5:97549668-97549669	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs557214058	chr5:97549669-97549670	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs181954467	chr5:97549678-97549679	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs542587383	chr5:97549818-97549819	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs13171183	chr5:97549869-97549870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs548927644	chr5:97549895-97549896	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs540226456	chr5:97549911-97549912	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs564595859	chr5:97549963-97549964	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs377596560	chr5:97549968-97549969	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs532100146	chr5:97549969-97549970	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs529995120	chr5:97549972-97549973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs568791059	chr5:97550020-97550021	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs562777381	chr5:97550030-97550031	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs370623265	chr5:97550037-97550038	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs530410969	chr5:97550039-97550040	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs548651385	chr5:97550043-97550044	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs567159780	chr5:97550046-97550047	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs6860681	chr5:97550067-97550068	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
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
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	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
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	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
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17053054	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21611746	CNVD
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:97540400-97551800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr5:97548400-97549000	Weak transcription	Fetal Muscle Leg	muscle
3	chr5:97549000-97549200	Enhancers	Fetal Muscle Leg	muscle
4	chr5:97549000-97549800	Enhancers	Fetal Muscle Trunk	muscle
5	chr5:97549000-97551600	Enhancers	HSMMtube	muscle
6	chr5:97549200-97550200	Weak transcription	Fetal Muscle Leg	muscle
7	chr5:97549200-97550800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr5:97549200-97551400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr5:97549400-97550800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr5:97549400-97551000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr5:97549400-97551200	Enhancers	HSMM	muscle
12	chr5:97549400-97551200	Enhancers	Osteobl	bone
13	chr5:97549600-97551000	Enhancers	Muscle Satellite Cultured Cells	--
14	chr5:97549600-97551000	Enhancers	NHEK	skin
15	chr5:97550000-97551000	Enhancers	NHDF-Ad	bronchial

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