Variant report

Variant	nsv981110
Chromosome Location	chr6:24598222-24600537
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	JUN	chr6:24600330-24600545	HepG2	liver:	n/a	chr6:24600427-24600436 chr6:24600426-24600439
2	JUND	chr6:24600277-24600544	HepG2	liver:	n/a	chr6:24600427-24600436
3	POLR2A	chr6:24599365-24599369	MCF-7	breast:	n/a	n/a
4	POLR2A	chr6:24598451-24598514	Gliobla	brain:	n/a	n/a
5	POLR2A	chr6:24598301-24598428	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:24593795..24596889-chr6:24599933..24601863,3	K562	blood:
2	chr6:24596221..24598717-chr6:24684990..24687804,2	MCF-7	breast:
3	chr6:24590802..24593221-chr6:24599918..24601431,2	K562	blood:

Variant related genes	Relation type
KRT8P43	TF binding region
ENSG00000112304	chromatin interactions

Extended variants
information (count: 85 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:85 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555743596	chr6:24598269-24598270	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs574389057	chr6:24598312-24598313	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs539817630	chr6:24598323-24598324	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs553778687	chr6:24598346-24598347	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs577044843	chr6:24598358-24598359	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs545903314	chr6:24598360-24598361	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs562722168	chr6:24598362-24598363	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs9356936	chr6:24598383-24598384	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs368124634	chr6:24598425-24598426	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs73727345	chr6:24598442-24598443	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs561801752	chr6:24598444-24598445	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs373956040	chr6:24598473-24598474	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs557367637	chr6:24598516-24598517	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs547415819	chr6:24598545-24598546	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs570498680	chr6:24598581-24598582	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs533292731	chr6:24598627-24598628	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs181056055	chr6:24598639-24598640	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs569924231	chr6:24598699-24598700	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs560175794	chr6:24598700-24598701	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs112351865	chr6:24598702-24598703	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs34900584	chr6:24598726-24598727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs559416193	chr6:24598740-24598741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs186817477	chr6:24598747-24598748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs556046235	chr6:24598751-24598752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs566269251	chr6:24598791-24598792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs535308268	chr6:24598808-24598809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs553842188	chr6:24598818-24598819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs113266006	chr6:24598831-24598832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs113535981	chr6:24598870-24598871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs545919729	chr6:24598936-24598937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs556255243	chr6:24598996-24598997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs368438333	chr6:24599001-24599002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs576204412	chr6:24599017-24599018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs139497295	chr6:24599027-24599028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs191724934	chr6:24599063-24599064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs527625708	chr6:24599116-24599117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs76950697	chr6:24599120-24599121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs564141535	chr6:24599141-24599142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs183343344	chr6:24599217-24599218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs558773916	chr6:24599237-24599238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs13218075	chr6:24599246-24599247	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs151195864	chr6:24599362-24599363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs187618095	chr6:24599409-24599410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs143278830	chr6:24599474-24599475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs191006860	chr6:24599533-24599534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs566251995	chr6:24599540-24599541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs535052528	chr6:24599550-24599551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs558448337	chr6:24599558-24599559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs570473281	chr6:24599564-24599565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs17307430	chr6:24599574-24599575	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:102)

Disease	PMID	Source
Colorectal cancer	21297112	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Follicular lymphoma	20505157	CNVD
Glioblastoma multiforme	21080181	CNVD
Ewing''s sarcoma	21437220	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Multiple myeloma	17550852	CNVD
Ewing''s sarcoma	17952124	CNVD
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	CNVD
Autism	21448237	CNVD
Cancer	20164919	CNVD
Melanoma	18172304	CNVD
Breast cancer	22844521	CNVD
HIV/AIDS	22844521	CNVD
Ovarian cancer	22844521	CNVD
Prostate cancer	22844521	CNVD
Psoriasis	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21552322	CNVD
Immune disease	21076436	CNVD
Autoimmune disease	19135723	CNVD
Systemic lupus erythematosus	17953491	CNVD
Recurrent Infections	22737222	CNVD
Systemic lupus erythematosus	21904924	CNVD
Ependymoma	19289631	CNVD
Gestational infection	22844521	CNVD
Head circumference	22844521	CNVD
Infertility	22844521	CNVD
Recurrent birth weight diabetes	22844521	CNVD
Obesity	22844521	CNVD
Recurrent pregnancy loss	22844521	CNVD
Intellectual disability	21811512	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Nasopharyngeal cancer	22815911	CNVD
Osteosarcoma	16790693	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	17133270	CNVD
Autism	22495311	CNVD
Burkitt''s lymphoma	19759907	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	16790693	CNVD
Breast cancer	22032731	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21785460	CNVD
Bladder cancer	16790693	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Retinoblastoma	16790693	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
T-cell lymphomas	19863542	CNVD
Urothelial carcinoma	18382360	CNVD
Lung cancer	19153074	CNVD
Breast cancer	21364760	CNVD
Cancer	21183584	CNVD
Myelofibrosis	22110671	CNVD
Williams-beuren syndrome	16971481	CNVD
Uveal melanoma	20484589	CNVD
small cell lung cancer	20016488	CNVD
XY gonadal dysgenesis	20685758	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:24583800-24601200	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr6:24583800-24606600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr6:24584200-24600200	Weak transcription	A549	lung
4	chr6:24584400-24601200	Weak transcription	Brain Angular Gyrus	brain
5	chr6:24586800-24601600	Weak transcription	Fetal Intestine Small	intestine
6	chr6:24588800-24601000	Weak transcription	Fetal Brain Female	brain
7	chr6:24588800-24601600	Weak transcription	Brain Anterior Caudate	brain
8	chr6:24589000-24601200	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr6:24589000-24602200	Weak transcription	Hela-S3	cervix
10	chr6:24595400-24601000	Weak transcription	Brain Substantia Nigra	brain
11	chr6:24596800-24601000	Weak transcription	Brain Germinal Matrix	brain

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