Variant report

Variant	nsv1023081
Chromosome Location	chr6:92223791-92307605
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	chr6:92284760-92285084	GM12878	blood:	n/a	chr6:92284947-92284957 chr6:92284946-92284957
2	BATF	chr6:92284761-92285078	GM12878	blood:	n/a	chr6:92284947-92284957 chr6:92284946-92284957
3	BCL11A	chr6:92283672-92283846	GM12878	blood:	n/a	n/a
4	CEBPB	chr6:92241094-92241113	H1-hESC	embryonic stem cell:	n/a	n/a
5	CEBPB	chr6:92298783-92299011	Hela-S3	cervix:	n/a	chr6:92298969-92298982
6	CEBPB	chr6:92286473-92286678	H1-hESC	embryonic stem cell:	n/a	chr6:92286581-92286590 chr6:92286581-92286590 chr6:92286579-92286590
7	CEBPB	chr6:92263574-92263877	IMR90	lung:	n/a	chr6:92263721-92263732
8	CEBPB	chr6:92263612-92263858	HepG2	liver:	n/a	chr6:92263721-92263732
9	CEBPB	chr6:92236841-92237100	K562	blood:	n/a	chr6:92236948-92236959
10	CEBPB	chr6:92278843-92279133	IMR90	lung:	n/a	n/a
11	CEBPB	chr6:92286453-92286723	A549	lung:	n/a	chr6:92286581-92286590 chr6:92286581-92286590 chr6:92286579-92286590
12	CEBPB	chr6:92286433-92286706	HepG2	liver:	n/a	chr6:92286581-92286590 chr6:92286581-92286590 chr6:92286579-92286590
13	CEBPB	chr6:92236856-92237010	IMR90	lung:	n/a	chr6:92236948-92236959
14	CEBPB	chr6:92300408-92300620	HepG2	liver:	n/a	n/a
15	CEBPB	chr6:92286418-92286774	IMR90	lung:	n/a	chr6:92286581-92286590 chr6:92286581-92286590 chr6:92286579-92286590
16	CEBPB	chr6:92278832-92279127	MCF-7	breast:	n/a	n/a
17	CEBPB	chr6:92291326-92291563	A549	lung:	n/a	chr6:92291410-92291421
18	CEBPB	chr6:92298829-92299083	IMR90	lung:	n/a	chr6:92298969-92298982
19	CEBPB	chr6:92236850-92237062	HepG2	liver:	n/a	chr6:92236948-92236959
20	CEBPB	chr6:92291281-92291567	HepG2	liver:	n/a	chr6:92291410-92291421
21	CEBPB	chr6:92263624-92263862	K562	blood:	n/a	chr6:92263721-92263732
22	CEBPB	chr6:92291231-92291569	IMR90	lung:	n/a	chr6:92291410-92291421
23	CTCF	chr6:92244540-92244690	RPTEC	kidney:	n/a	n/a
24	CTCF	chr6:92244500-92244650	HMEC	breast:	n/a	n/a
25	CTCF	chr6:92244391-92244699	GM12878	blood:	n/a	n/a
26	CTCF	chr6:92244480-92244630	Hela-S3	cervix:	n/a	n/a
27	CTCF	chr6:92244420-92244570	GM12873	blood:	n/a	n/a
28	CTCF	chr6:92244440-92244590	HMEC	breast:	n/a	n/a
29	CTCF	chr6:92284969-92285101	GM12878	blood:	n/a	n/a
30	CTCF	chr6:92244489-92244604	GM12878	blood:	n/a	n/a
31	CTCF	chr6:92231160-92231310	MCF-7	breast:	n/a	n/a
32	CTCF	chr6:92231200-92231350	MCF-7	breast:	n/a	n/a
33	CTCF	chr6:92241804-92241897	Pancreas_OC	pancreas:	n/a	n/a
34	CTCF	chr6:92244531-92244601	GM13977	blood:	n/a	n/a
35	CTCF	chr6:92244369-92244662	MCF-7	breast:	n/a	n/a
36	CTCF	chr6:92283611-92283848	GM12878	blood:	n/a	n/a
37	CTCF	chr6:92262569-92262688	GM13976	blood:	n/a	n/a
38	CTCF	chr6:92231160-92231310	HEK293	kidney:	n/a	n/a
39	CTCF	chr6:92244460-92244610	HRPEpiC	eye:	n/a	n/a
40	CTCF	chr6:92244480-92244630	GM12865	blood:	n/a	n/a
41	CTCF	chr6:92244500-92244650	GM06990	blood:	n/a	n/a
42	CTCF	chr6:92244360-92244510	RPTEC	kidney:	n/a	n/a
43	CTCF	chr6:92244460-92244610	MCF-7	breast:	n/a	n/a
44	CTCF	chr6:92284940-92285090	HRE	kidney:	n/a	n/a
45	CTCF	chr6:92231179-92231345	MCF-7	breast:	n/a	n/a
46	CTCF	chr6:92275620-92275770	GM12875	blood:	n/a	n/a
47	CTCF	chr6:92231240-92231390	BE2_C	brain:	n/a	n/a
48	CTCF	chr6:92244460-92244610	HRE	kidney:	n/a	n/a
49	CTCF	chr6:92285000-92285150	HRE	kidney:	n/a	n/a
50	CTCF	chr6:92244580-92244730	HVMF	connective:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:92295600..92298455-chr6:92312604..92314861,2	MCF-7	breast:
2	chr14:38154305..38154825-chr6:92271048..92271615,2	MCF-7	breast:
3	chr6:92039620..92040133-chr6:92244085..92244800,2	MCF-7	breast:
4	chr6:92039625..92040672-chr6:92243858..92245014,7	MCF-7	breast:
5	chr6:92250550..92252805-chr6:92259870..92262729,2	K562	blood:
6	chr6:92250550..92252805-chr6:92259870..92262729,2	K562	blood:
7	chr6:92307302..92309896-chr6:92322884..92325397,2	MCF-7	breast:

miRNA name	Chromosome Location	mirBase accession
hsa-miR-4643	chr6:92231427-92231448	MIMAT0019703

Variant related genes	Relation type
MIR4643	TF binding region

Extended variants
information (count: 606 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:606 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113176751	chr6:92225204-92225205	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs558289566	chr6:92225326-92225327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs111986882	chr6:92225327-92225328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs35230539	chr6:92225458-92225459	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs62419795	chr6:92225466-92225467	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs545325145	chr6:92225469-92225470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs565132960	chr6:92225487-92225488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs527571283	chr6:92225565-92225566	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs541272205	chr6:92225577-92225578	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs146018721	chr6:92225597-92225598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs530172575	chr6:92225685-92225686	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs10944538	chr6:92225686-92225687	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs569975797	chr6:92225698-92225699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs114365581	chr6:92225731-92225732	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs17554782	chr6:92225733-92225734	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs574352920	chr6:92225757-92225758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs12193468	chr6:92225773-92225774	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs534984169	chr6:92225782-92225783	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs13213496	chr6:92225783-92225784	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs535986337	chr6:92225802-92225803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs567464611	chr6:92225805-92225806	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs368681567	chr6:92225806-92225807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs556177301	chr6:92225807-92225808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs576113730	chr6:92225831-92225832	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs545060172	chr6:92225833-92225834	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs551949761	chr6:92225842-92225843	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs142762951	chr6:92225856-92225857	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs150648888	chr6:92225857-92225858	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs75851751	chr6:92225892-92225893	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs78988343	chr6:92225893-92225894	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs188022785	chr6:92225938-92225939	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs149789994	chr6:92225939-92225940	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs376557502	chr6:92226008-92226009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs79015882	chr6:92226019-92226020	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs532460125	chr6:92226052-92226053	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs552200598	chr6:92226058-92226059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs559301578	chr6:92226073-92226074	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs9345143	chr6:92226098-92226099	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs201977333	chr6:92226110-92226111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs115530297	chr6:92226127-92226128	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs531985137	chr6:92226137-92226138	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs537610401	chr6:92226147-92226148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs147203374	chr6:92226182-92226183	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs369357186	chr6:92226187-92226188	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs550883288	chr6:92226214-92226215	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs114868557	chr6:92226232-92226233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs144786435	chr6:92226240-92226241	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs79126887	chr6:92226267-92226268	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs572038880	chr6:92226275-92226276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs16884433	chr6:92226306-92226307	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:102)

Disease	PMID	Source
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
Endometrioid adenocarcinoma	16974079	CNVD
Autism	22495311	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
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	20435627	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
Prostate cancer	16573809	CNVD
Breast cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Lung adenocarcinoma	21935476	CNVD
Prostate cancer	17245344	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Cancer	20164920	CNVD
Burkitt''s lymphoma	20823134	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	21364760	CNVD
Developmental delay	19490664	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Adrenocortical carcinoma	18281524	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Neuropathy	19664229	CNVD
Neurodevelopmental disorder	22521361	CNVD
Burkitt''s lymphoma	18698080	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:92225200-92226000	Enhancers	Brain Germinal Matrix	brain
2	chr6:92225600-92226400	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr6:92233200-92234000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr6:92249200-92249400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr6:92249600-92250600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr6:92250600-92251000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr6:92250800-92251200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr6:92257200-92258600	Enhancers	Ovary	ovary
9	chr6:92269800-92270400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr6:92271600-92272600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr6:92276600-92277000	Enhancers	NH-A	brain
12	chr6:92277400-92277600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
13	chr6:92278800-92279200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr6:92279200-92279600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr6:92279200-92282400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr6:92281000-92281200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr6:92281400-92282400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr6:92282400-92283000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr6:92282400-92283200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr6:92282600-92283000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr6:92290400-92291000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr6:92291000-92292000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr6:92292000-92292200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr6:92298600-92299200	Enhancers	Muscle Satellite Cultured Cells	--
25	chr6:92300000-92300200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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