Variant report

Variant	nsv981154
Chromosome Location	chr6:64253950-64260109
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	CEBPB	chr6:64256689-64256946	H1-hESC	embryonic stem cell:	n/a	chr6:64256796-64256807
2	CEBPB	chr6:64253884-64254415	Hela-S3	cervix:	n/a	n/a
3	CEBPB	chr6:64257883-64257916	HepG2	liver:	n/a	chr6:64257893-64257904
4	CEBPB	chr6:64256661-64256965	IMR90	lung:	n/a	chr6:64256796-64256807
5	CEBPB	chr6:64256648-64256972	K562	blood:	n/a	chr6:64256796-64256807
6	CEBPB	chr6:64256629-64256964	Hela-S3	cervix:	n/a	chr6:64256796-64256807
7	CEBPB	chr6:64256547-64256987	A549	lung:	n/a	chr6:64256796-64256807
8	CEBPB	chr6:64256616-64256930	MCF-7	breast:	n/a	chr6:64256796-64256807
9	CEBPB	chr6:64256634-64256976	HepG2	liver:	n/a	chr6:64256796-64256807
10	CEBPB	chr6:64256665-64256921	A549	lung:	n/a	chr6:64256796-64256807
11	CEBPB	chr6:64254180-64254291	A549	lung:	n/a	n/a
12	EP300	chr6:64253972-64254364	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr6:64254971-64255033	Hela-S3	cervix:	n/a	n/a
14	POLR2A	chr6:64257831-64258485	HepG2	liver:	n/a	n/a
15	POLR2A	chr6:64259394-64259422	A549	lung:	n/a	n/a
16	POLR2A	chr6:64257631-64260586	HepG2	liver:	n/a	n/a
17	POLR2A	chr6:64256538-64256663	HepG2	liver:	n/a	n/a
18	POLR2A	chr6:64259788-64259936	MCF10A-Er-Src	breast:	n/a	n/a
19	POLR2A	chr6:64257757-64260516	HepG2	liver:	n/a	n/a
20	POLR2A	chr6:64258685-64259363	HepG2	liver:	n/a	n/a
21	POLR2A	chr6:64257821-64257826	HepG2	liver:	n/a	n/a
22	POLR2A	chr6:64257623-64257815	HepG2	liver:	n/a	n/a
23	POLR2A	chr6:64256147-64256234	MCF10A-Er-Src	breast:	n/a	n/a
24	POLR2A	chr6:64255878-64256328	HepG2	liver:	n/a	n/a
25	POLR2A	chr6:64256039-64256495	HepG2	liver:	n/a	n/a
26	POLR2A	chr6:64253937-64254980	HepG2	liver:	n/a	n/a
27	POLR2A	chr6:64256141-64256731	HepG2	liver:	n/a	n/a
28	POLR2A	chr6:64255906-64256707	HepG2	liver:	n/a	n/a
29	POLR2A	chr6:64257042-64257398	HepG2	liver:	n/a	n/a
30	POLR2A	chr6:64254058-64254690	HepG2	liver:	n/a	n/a
31	POLR2A	chr6:64259569-64259894	Hela-S3	cervix:	n/a	n/a
32	POLR2A	chr6:64256970-64257168	HepG2	liver:	n/a	n/a
33	POLR2A	chr6:64258864-64258898	Hela-S3	cervix:	n/a	n/a
34	POLR2A	chr6:64257556-64257621	HepG2	liver:	n/a	n/a
35	POLR2A	chr6:64257891-64258034	Hela-S3	cervix:	n/a	n/a
36	POLR2A	chr6:64258141-64258405	HepG2	liver:	n/a	n/a
37	POLR2A	chr6:64259463-64259502	Hela-S3	cervix:	n/a	n/a
38	POLR2A	chr6:64255315-64255463	HepG2	liver:	n/a	n/a
39	POLR2A	chr6:64252280-64255235	HepG2	liver:	n/a	n/a
40	POLR2A	chr6:64257826-64259379	HepG2	liver:	n/a	n/a
41	POLR2A	chr6:64256113-64256550	HepG2	liver:	n/a	n/a
42	POLR2A	chr6:64256451-64256525	Hela-S3	cervix:	n/a	n/a
43	POLR2A	chr6:64255515-64255852	HepG2	liver:	n/a	n/a
44	TBL1XR1	chr6:64255984-64256121	K562	blood:	n/a	n/a
45	TCF7L2	chr6:64253991-64254600	Hela-S3	cervix:	n/a	n/a
46	TCF7L2	chr6:64254343-64254729	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:64253603..64256185-chr6:64281188..64284630,3	MCF-7	breast:
2	chr6:64254042..64256936-chr6:64282036..64285018,3	K562	blood:
3	chr6:64257894..64259576-chr6:64281719..64283676,2	MCF-7	breast:
4	chr6:64200695..64201556-chr6:64254041..64254926,2	MCF-7	breast:
5	chr6:64200695..64201556-chr6:64254041..64254926,5	MCF-7	breast:
6	chr6:64256356..64258485-chr6:64274264..64276297,2	K562	blood:

Variant related genes	Relation type
RPL7AP34	TF binding region
ENSG00000112245	chromatin interactions
ENSG00000266680	chromatin interactions

Extended variants
information (count: 228 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:228 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540095627	chr6:64253961-64253962	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs533064767	chr6:64253970-64253971	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs561880782	chr6:64253981-64253982	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs1322415	chr6:64253987-64253988	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs190197108	chr6:64254018-64254019	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs1322416	chr6:64254019-64254020	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs532796267	chr6:64254033-64254034	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs550937271	chr6:64254076-64254077	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs559859621	chr6:64254100-64254101	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs72880893	chr6:64254109-64254110	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs141822795	chr6:64254110-64254111	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs200225989	chr6:64254119-64254120	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs181051315	chr6:64254129-64254130	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs146066693	chr6:64254181-64254182	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs569550820	chr6:64254331-64254332	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs200999726	chr6:64254443-64254444	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs185891590	chr6:64254450-64254451	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs191989631	chr6:64254456-64254457	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs35890096	chr6:64254458-64254459	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs79386298	chr6:64254463-64254464	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs534251102	chr6:64254471-64254472	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs555292615	chr6:64254489-64254490	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs183911914	chr6:64254523-64254524	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs139948253	chr6:64254561-64254562	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs2758246	chr6:64254564-64254565	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs546646167	chr6:64254572-64254573	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs116085923	chr6:64254596-64254597	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs544642974	chr6:64254622-64254623	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs187449575	chr6:64254632-64254633	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs559674958	chr6:64254643-64254644	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs532110472	chr6:64254649-64254650	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs527420235	chr6:64254650-64254651	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs542674883	chr6:64254717-64254718	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs560807406	chr6:64254746-64254747	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs529521418	chr6:64254766-64254767	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs551193787	chr6:64254767-64254768	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs569612183	chr6:64254850-64254851	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs75049517	chr6:64254853-64254854	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs549392385	chr6:64254871-64254872	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs190608382	chr6:64254886-64254887	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs182833116	chr6:64254888-64254889	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs375495312	chr6:64254919-64254920	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs187166648	chr6:64255098-64255099	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs555862403	chr6:64255104-64255105	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs375745715	chr6:64255128-64255129	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs143496201	chr6:64255148-64255149	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs538087692	chr6:64255150-64255151	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs555928113	chr6:64255213-64255214	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs577521518	chr6:64255219-64255220	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs550713540	chr6:64255279-64255280	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:77)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastric cancer	17908304	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
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Lung cancer	18438408	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Ependymoma	16718352	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Cancer	20164920	CNVD
Prostate cancer	16573809	CNVD
Ovarian cancer	19835627	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
Multiple myeloma	17550852	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:64240400-64254000	Weak transcription	Psoas Muscle	Psoas
2	chr6:64249400-64258200	Weak transcription	Liver	Liver
3	chr6:64252400-64255000	Enhancers	Hela-S3	cervix
4	chr6:64252800-64258800	Weak transcription	HepG2	liver
5	chr6:64253200-64254200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr6:64253400-64254400	Weak transcription	A549	lung
7	chr6:64254000-64254200	Enhancers	Psoas Muscle	Psoas
8	chr6:64254200-64254400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr6:64254400-64255200	Enhancers	A549	lung
10	chr6:64255000-64263000	Weak transcription	Hela-S3	cervix
11	chr6:64255200-64258000	Weak transcription	A549	lung
12	chr6:64258000-64258600	Enhancers	A549	lung
13	chr6:64258200-64259600	Strong transcription	Liver	Liver
14	chr6:64258600-64259200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr6:64258600-64263000	Weak transcription	A549	lung
16	chr6:64258800-64259200	Strong transcription	HepG2	liver
17	chr6:64259200-64260000	Weak transcription	HepG2	liver
18	chr6:64259600-64263200	Weak transcription	Liver	Liver
19	chr6:64260000-64261200	Strong transcription	HepG2	liver

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