Variant report

Variant	nsv968281
Chromosome Location	chr5:177317594-177358347
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	BATF	chr5:177318902-177319165	GM12878	blood:	n/a	n/a
2	BATF	chr5:177350005-177350508	GM12878	blood:	n/a	n/a
3	BCL11A	chr5:177350113-177350370	GM12878	blood:	n/a	n/a
4	CBX3	chr5:177326838-177327008	K562	blood:	n/a	n/a
5	CTCF	chr5:177318840-177318990	HFF-Myc	foreskin:	n/a	n/a
6	CTCF	chr5:177318837-177319142	Lung_OC	lung:	n/a	chr5:177318991-177319012 chr5:177318989-177319007
7	CTCF	chr5:177318831-177319022	T-47D	breast:	n/a	chr5:177318991-177319012 chr5:177318989-177319007
8	CTCF	chr5:177318836-177319126	MCF-7	breast:	n/a	chr5:177318991-177319012 chr5:177318989-177319007
9	CTCF	chr5:177318813-177319164	GM19238	blood:	n/a	chr5:177318991-177319012 chr5:177318989-177319007
10	CTCF	chr5:177350346-177350463	Spleen_OC	spleen:	n/a	chr5:177350420-177350441
11	CTCF	chr5:177318684-177319329	A549	lung:	n/a	chr5:177318991-177319012 chr5:177318989-177319007
12	CTCF	chr5:177318871-177318998	T-47D	breast:	n/a	n/a
13	CTCF	chr5:177318775-177319131	K562	blood:	n/a	chr5:177318991-177319012 chr5:177318989-177319007
14	CTCF	chr5:177318827-177319137	Gliobla	brain:	n/a	chr5:177318991-177319012 chr5:177318989-177319007
15	CTCF	chr5:177318840-177318990	GM12868	blood:	n/a	n/a
16	CTCF	chr5:177318903-177319014	HepG2	liver:	n/a	chr5:177318991-177319012 chr5:177318989-177319007
17	CTCF	chr5:177335905-177335953	Fibrobl	skin:	n/a	n/a
18	CTCF	chr5:177318797-177319159	A549	lung:	n/a	chr5:177318991-177319012 chr5:177318989-177319007
19	CTCF	chr5:177318868-177319115	GM13976	blood:	n/a	chr5:177318991-177319012 chr5:177318989-177319007
20	CTCF	chr5:177318820-177318970	GM12801	blood:	n/a	n/a
21	CTCF	chr5:177318631-177318721	GM12878	blood:	n/a	n/a
22	CTCF	chr5:177318916-177319131	K562	blood:	n/a	chr5:177318991-177319012 chr5:177318989-177319007
23	CTCF	chr5:177349803-177349862	GM10266	blood:	n/a	n/a
24	CTCF	chr5:177318902-177318994	SK-N-SH_RA	brain:	n/a	n/a
25	CTCF	chr5:177318826-177319154	NHEK	skin:	n/a	chr5:177318991-177319012 chr5:177318989-177319007
26	CTCF	chr5:177318898-177318972	SK-N-SH_RA	brain:	n/a	n/a
27	CTCF	chr5:177350327-177350464	GM19239	blood:	n/a	chr5:177350420-177350441
28	CTCF	chr5:177318831-177319138	A549	lung:	n/a	chr5:177318991-177319012 chr5:177318989-177319007
29	CTCF	chr5:177318669-177319283	K562	blood:	n/a	chr5:177318991-177319012 chr5:177318989-177319007
30	CTCF	chr5:177343931-177343968	Kidney_OC	kidney:	n/a	n/a
31	CTCF	chr5:177318820-177318970	NHDF-neo	bronchial:	n/a	n/a
32	CTCF	chr5:177318600-177318750	HFF-Myc	foreskin:	n/a	n/a
33	CTCF	chr5:177347787-177347846	GM10266	blood:	n/a	n/a
34	CTCF	chr5:177318893-177318978	HepG2	liver:	n/a	n/a
35	CTCF	chr5:177318826-177319146	A549	lung:	n/a	chr5:177318991-177319012 chr5:177318989-177319007
36	CTCF	chr5:177318842-177319116	GM10248	blood:	n/a	chr5:177318991-177319012 chr5:177318989-177319007
37	CTCF	chr5:177318842-177319122	MCF-7	breast:	n/a	chr5:177318991-177319012 chr5:177318989-177319007
38	CTCF	chr5:177318678-177319055	A549	lung:	n/a	chr5:177318991-177319012 chr5:177318989-177319007
39	CTCF	chr5:177318822-177319136	GM19240	blood:	n/a	chr5:177318991-177319012 chr5:177318989-177319007
40	CTCF	chr5:177350355-177350472	Lung_OC	lung:	n/a	chr5:177350420-177350441
41	CTCF	chr5:177318915-177319133	GM12878	blood:	n/a	chr5:177318991-177319012 chr5:177318989-177319007
42	CTCF	chr5:177319256-177319355	GM10266	blood:	n/a	n/a
43	CTCF	chr5:177347726-177347799	GM10248	blood:	n/a	n/a
44	CTCF	chr5:177318848-177319006	H1-hESC	embryonic stem cell:	n/a	n/a
45	CTCF	chr5:177318815-177319162	GM10266	blood:	n/a	chr5:177318991-177319012 chr5:177318989-177319007
46	CTCF	chr5:177318810-177319164	Spleen_OC	spleen:	n/a	chr5:177318991-177319012 chr5:177318989-177319007
47	CTCF	chr5:177343146-177343270	Spleen_OC	spleen:	n/a	n/a
48	CTCF	chr5:177318843-177319113	H1-hESC	embryonic stem cell:	n/a	chr5:177318991-177319012 chr5:177318989-177319007
49	CTCF	chr5:177318846-177319010	H1-hESC	embryonic stem cell:	n/a	chr5:177318989-177319007
50	CTCF	chr5:177318540-177318690	AG10803	skin:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:175334688..175336513-chr5:177355632..177357590,2	MCF-7	breast:
2	chr5:175156849..175157453-chr5:177318941..177319451,2	MCF-7	breast:
3	chr5:177354970..177357423-chr5:177512063..177514728,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000221204	TF binding region

Extended variants
information (count: 463 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:463 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201645550	chr5:177317660-177317661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs386695397	chr5:177317808-177317809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs71591863	chr5:177317809-177317810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs113899322	chr5:177317832-177317833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs543710873	chr5:177317878-177317879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs561732508	chr5:177317885-177317886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs147508448	chr5:177317957-177317958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs573668529	chr5:177317968-177317969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs558364597	chr5:177318050-177318051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs541172090	chr5:177318097-177318098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs559466833	chr5:177318163-177318164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs533194258	chr5:177318174-177318175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs376481643	chr5:177318193-177318194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs551566148	chr5:177318194-177318195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs144285506	chr5:177318195-177318196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs150737705	chr5:177318209-177318210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs565379219	chr5:177318217-177318218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs369728356	chr5:177318222-177318223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs372745514	chr5:177318230-177318231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs192693376	chr5:177318235-177318236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs535437409	chr5:177318247-177318248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs76877453	chr5:177318251-177318252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs547520984	chr5:177318333-177318334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs369915187	chr5:177318420-177318421	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs143522834	chr5:177318475-177318476	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs146720687	chr5:177318532-177318533	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs558333864	chr5:177318542-177318543	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs200889490	chr5:177318551-177318552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs576519437	chr5:177318558-177318559	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs75564412	chr5:177318595-177318596	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
31	rs537788548	chr5:177318609-177318610	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs555780515	chr5:177318615-177318616	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs573705484	chr5:177318632-177318633	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs185045925	chr5:177318641-177318642	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs76860601	chr5:177318696-177318697	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs541008644	chr5:177318731-177318732	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs559354749	chr5:177318755-177318756	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs201108976	chr5:177318843-177318844	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs370885562	chr5:177318871-177318872	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs189108877	chr5:177318936-177318937	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs577818801	chr5:177318939-177318940	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs140994005	chr5:177318952-177318953	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs563541055	chr5:177319031-177319032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs530617560	chr5:177319096-177319097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs542936658	chr5:177319146-177319147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs560835060	chr5:177319332-177319333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs528336534	chr5:177319377-177319378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs547409670	chr5:177319395-177319396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs565690615	chr5:177319398-177319399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs533476142	chr5:177319399-177319400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:106)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Acute lymphoblastic leukemia	20067559	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
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
Thyroid cancer	19087340	CNVD
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Renal cell carcinoma	19377443	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18592004	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Prostate cancer	18632612	CNVD
epilepsy	18472482	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Sotos syndrome	21572526	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Sotos syndrome	17561922	CNVD
Sotos syndrome	16773131	CNVD
Mental retardation	16773131	CNVD
Sotos syndrome	22470819	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Acute myeloid leukemia	18000384	CNVD
Sudden cardiac death	19188705	CNVD
Basal cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Lung cancer	17297452	CNVD
Cancer	20164920	CNVD
Autism	20841430	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Sotos syndrome	22283845	CNVD
Breast cancer	16272173	CNVD
Sotos syndrome	20503325	CNVD
Lung adenocarcinoma	17086460	CNVD
Congenital Hypertrichosis Syndrome	21636067	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	19181860	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ehlers-danlos syndrome	17576883	CNVD
Lung cancer	17086460	CNVD
Autism	19246517	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Ependymoma	20639864	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:177303200-177318600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr5:177303400-177318400	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr5:177303400-177318600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr5:177303400-177318600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr5:177303400-177318600	Weak transcription	Brain Hippocampus Middle	brain
6	chr5:177303400-177320400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr5:177303400-177320400	Weak transcription	Esophagus	oesophagus
8	chr5:177303400-177322000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr5:177303400-177328600	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr5:177310600-177328800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr5:177311000-177318600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr5:177311000-177321400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr5:177311200-177318200	Weak transcription	Liver	Liver
14	chr5:177311200-177318600	Weak transcription	Brain Cingulate Gyrus	brain
15	chr5:177311200-177318600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr5:177311800-177318200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr5:177311800-177318800	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr5:177316600-177317600	Enhancers	Primary B cells from peripheral blood	blood
19	chr5:177317400-177317600	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr5:177317600-177318600	Weak transcription	Primary B cells from peripheral blood	blood
21	chr5:177318400-177318800	Enhancers	HMEC	breast
22	chr5:177318400-177319000	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr5:177318600-177318800	Enhancers	Primary B cells from peripheral blood	blood
24	chr5:177318600-177318800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
25	chr5:177318600-177318800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
26	chr5:177318600-177318800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr5:177318600-177318800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr5:177318600-177318800	Enhancers	Brain Cingulate Gyrus	brain
29	chr5:177318600-177318800	Enhancers	Brain Hippocampus Middle	brain
30	chr5:177318600-177318800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
31	chr5:177318800-177319000	Enhancers	Primary T helper cells PMA-I stimulated	--
32	chr5:177320400-177320800	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr5:177320400-177321000	Enhancers	Esophagus	oesophagus
34	chr5:177320600-177320800	Enhancers	Liver	Liver
35	chr5:177321000-177327000	Weak transcription	Esophagus	oesophagus
36	chr5:177321400-177321600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr5:177327000-177327200	Enhancers	Esophagus	oesophagus
38	chr5:177327200-177327800	Weak transcription	Esophagus	oesophagus
39	chr5:177347800-177350600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr5:177349600-177351200	Enhancers	Primary neutrophils fromperipheralblood	blood
41	chr5:177349600-177351200	Enhancers	HUVEC	blood vessel
42	chr5:177350600-177350800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr5:177350600-177350800	Enhancers	Fetal Thymus	thymus
44	chr5:177355400-177355600	Enhancers	Fetal Heart	heart
45	chr5:177355800-177356000	Enhancers	Liver	Liver
46	chr5:177355800-177357000	Weak transcription	Fetal Heart	heart
47	chr5:177356000-177357000	Weak transcription	Liver	Liver
48	chr5:177356800-177357800	Enhancers	Placenta	Placenta
49	chr5:177356800-177358000	Enhancers	Pancreas	Pancrea
50	chr5:177356800-177358800	Enhancers	Ovary	ovary

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