Variant report

Variant	nsv1024486
Chromosome Location	chr6:143324036-143346704
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:103)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:14)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:103 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr6:143340215-143340548	K562	blood:	n/a	n/a
2	ATF2	chr6:143336385-143336846	GM12878	blood:	n/a	n/a
3	ATF2	chr6:143327894-143328358	GM12878	blood:	n/a	n/a
4	ATF2	chr6:143335957-143336899	GM12878	blood:	n/a	n/a
5	ATF2	chr6:143335891-143336360	GM12878	blood:	n/a	n/a
6	BATF	chr6:143336358-143336724	GM12878	blood:	n/a	chr6:143336546-143336557
7	BATF	chr6:143336374-143336808	GM12878	blood:	n/a	chr6:143336546-143336557
8	BATF	chr6:143335960-143336311	GM12878	blood:	n/a	n/a
9	BATF	chr6:143335977-143336357	GM12878	blood:	n/a	n/a
10	BHLHE40	chr6:143336765-143336835	GM12878	blood:	n/a	n/a
11	BHLHE40	chr6:143345078-143345144	K562	blood:	n/a	n/a
12	CHD2	chr6:143324143-143324146	K562	blood:	n/a	n/a
13	CTCF	chr6:143344945-143345153	K562	blood:	n/a	n/a
14	CTCF	chr6:143344880-143345030	HPAF	blood vessel:	n/a	n/a
15	CTCF	chr6:143344920-143345070	MCF-7	breast:	n/a	n/a
16	CTCF	chr6:143344900-143345050	HBMEC	blood vessel:	n/a	n/a
17	CTCF	chr6:143336634-143336946	GM12878	blood:	n/a	n/a
18	CTCF	chr6:143336680-143336830	GM12865	blood:	n/a	n/a
19	CTCF	chr6:143336761-143336822	MCF-7	breast:	n/a	n/a
20	CTCF	chr6:143344956-143345077	MCF-7	breast:	n/a	n/a
21	CTCF	chr6:143344958-143345080	K562	blood:	n/a	n/a
22	CTCF	chr6:143344876-143345052	K562	blood:	n/a	n/a
23	CTCF	chr6:143344920-143345070	K562	blood:	n/a	n/a
24	CTCF	chr6:143328720-143328870	NHDF-neo	bronchial:	n/a	n/a
25	CTCF	chr6:143336760-143336825	MCF-7	breast:	n/a	n/a
26	CTCF	chr6:143344980-143345063	H1-hESC	embryonic stem cell:	n/a	n/a
27	CTCF	chr6:143328720-143328870	HEK293	kidney:	n/a	n/a
28	CTCF	chr6:143344935-143345081	MCF-7	breast:	n/a	n/a
29	CTCF	chr6:143344948-143345070	MCF-7	breast:	n/a	n/a
30	CTCF	chr6:143344920-143345070	HCFaa	heart:	n/a	n/a
31	CTCF	chr6:143344936-143345079	MCF-7	breast:	n/a	n/a
32	CTCF	chr6:143344920-143345070	HPAF	blood vessel:	n/a	n/a
33	CTCF	chr6:143344840-143344990	HCPEpiC	choroid plexus:	n/a	n/a
34	CTCF	chr6:143344960-143345110	MCF-7	breast:	n/a	n/a
35	CTCF	chr6:143344955-143345071	MCF-7	breast:	n/a	n/a
36	EBF1	chr6:143336365-143336882	GM12878	blood:	n/a	n/a
37	EP300	chr6:143328718-143329121	SK-N-SH_RA	brain:	n/a	n/a
38	EP300	chr6:143338467-143338518	K562	blood:	n/a	n/a
39	EP300	chr6:143336032-143336247	GM12878	blood:	n/a	chr6:143336134-143336148
40	EP300	chr6:143331154-143331702	SK-N-SH_RA	brain:	n/a	chr6:143331172-143331186
41	EP300	chr6:143328712-143329092	SK-N-SH_RA	brain:	n/a	n/a
42	EP300	chr6:143331182-143331492	SK-N-SH_RA	brain:	n/a	n/a
43	FOS	chr6:143336767-143336799	MCF10A-Er-Src	breast:	n/a	n/a
44	FOXA1	chr6:143343770-143344085	HepG2	liver:	n/a	n/a
45	FOXA2	chr6:143343817-143344032	HepG2	liver:	n/a	n/a
46	GATA3	chr6:143338080-143338209	SH-SY5Y	brain:	n/a	n/a
47	GATA3	chr6:143329638-143329754	SH-SY5Y	brain:	n/a	n/a
48	GATA3	chr6:143330913-143331682	SK-N-SH	brain:	n/a	n/a
49	GATA3	chr6:143330964-143331757	SK-N-SH	brain:	n/a	n/a
50	GATA3	chr6:143328655-143329163	SK-N-SH	brain:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:143322525..143325153-chr6:143327028..143328550,2	MCF-7	breast:
2	chr6:143322525..143325153-chr6:143327028..143328550,2	MCF-7	breast:
3	chr6:143334412..143337712-chr6:143338585..143341266,4	K562	blood:
4	chr6:143334412..143337712-chr6:143338585..143341266,4	K562	blood:
5	chr6:143333465..143335912-chr6:143338837..143340660,2	K562	blood:
6	chr6:143266471..143269313-chr6:143346682..143349454,3	MCF-7	breast:
7	chr6:143333465..143335912-chr6:143338837..143340660,2	K562	blood:
8	chr6:143344286..143347021-chr6:143360739..143362834,2	K562	blood:

(count:14 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HIVEP2-2	chr6:143345615-143346340	NONHSAT115334
2	lnc-HIVEP2-2	chr6:143342826-143343093	NONHSAT115334
3	lnc-HIVEP2-2	chr6:143342803-143343090	ENSG00000229017.2
4	lnc-HIVEP2-2	chr6:143342803-143343090	NONHSAT115329
5	lnc-HIVEP2-2	chr6:143342803-143343090	ENSG00000229017.1
6	lnc-HIVEP2-2	chr6:143342803-143343090	NONHSAT115327
7	lnc-HIVEP2-2	chr6:143329863-143330271	NONHSAT115332
8	lnc-HIVEP2-2	chr6:143342803-143343090	NONHSAT115328
9	lnc-HIVEP2-2	chr6:143342803-143343090	NR_038987
10	lnc-HIVEP2-2	chr6:143342803-143343090	ENSG00000229017.1
11	lnc-HIVEP2-2	chr6:143329946-143330007	NONHSAT115333
12	lnc-HIVEP2-2	chr6:143332793-143332917	NONHSAT115333
13	lnc-HIVEP2-2	chr6:143329254-143330271	NONHSAT115331
14	lnc-HIVEP2-2	chr6:143342803-143343090	NONHSAT115333

No data

Variant related genes	Relation type
ENSG00000229017	TF binding region

Extended variants
information (count: 668 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:668 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184462719	chr6:143324038-143324039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs558564606	chr6:143324098-143324099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs199252	chr6:143324102-143324103	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs376234194	chr6:143324145-143324146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs377255745	chr6:143324149-143324150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs543582962	chr6:143324154-143324155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs572526724	chr6:143324160-143324161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs377138747	chr6:143324167-143324168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs144620230	chr6:143324264-143324265	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs188512874	chr6:143324334-143324335	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs116020924	chr6:143324344-143324345	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs368050807	chr6:143324391-143324392	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs557089762	chr6:143324408-143324409	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs564575528	chr6:143324429-143324430	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs370560726	chr6:143324439-143324440	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs138514837	chr6:143324455-143324456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs11961549	chr6:143324456-143324457	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs559029683	chr6:143324471-143324472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs529786123	chr6:143324492-143324493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs548128954	chr6:143324534-143324535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs547358366	chr6:143325018-143325019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs138966570	chr6:143325131-143325132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs561772932	chr6:143325157-143325158	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs149417361	chr6:143325166-143325167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs558918133	chr6:143325170-143325171	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs199253	chr6:143325196-143325197	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs143753669	chr6:143325231-143325232	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs563201681	chr6:143325344-143325345	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs60625930	chr6:143325345-143325346	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs189495114	chr6:143325358-143325359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs564382107	chr6:143325373-143325374	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs181967168	chr6:143325381-143325382	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs184996145	chr6:143325393-143325394	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs143113116	chr6:143325664-143325665	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs147495464	chr6:143325668-143325669	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs541432292	chr6:143325691-143325692	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs546609190	chr6:143325722-143325723	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs566810336	chr6:143325813-143325814	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs563400218	chr6:143325823-143325824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs139301654	chr6:143325848-143325849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs149940212	chr6:143325862-143325863	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs564272050	chr6:143325866-143325867	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs116628483	chr6:143325888-143325889	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs540519575	chr6:143325940-143325941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs561801590	chr6:143325975-143325976	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs530132318	chr6:143325984-143325985	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs548244323	chr6:143326041-143326042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs73588476	chr6:143326050-143326051	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs530905651	chr6:143326070-143326071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs144989414	chr6:143326081-143326082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
Autism	22495311	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
Melanoma	18172304	CNVD
Cancer	21637783	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
Colorectal cancer	16272173	CNVD
Ependymoma	16718352	CNVD
Gastric cancer	17908304	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	16272173	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Follicular lymphoma	18703704	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
Breast cancer	21364760	CNVD
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Endocrine pancreatic tumor	17914106	CNVD
Soft tissue tumor	16732325	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:143323000-143324200	Weak transcription	Brain Substantia Nigra	brain
2	chr6:143324200-143324400	Enhancers	Brain Hippocampus Middle	brain
3	chr6:143324200-143324600	Enhancers	K562	blood
4	chr6:143325000-143325400	Enhancers	Fetal Heart	heart
5	chr6:143325600-143326000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr6:143326000-143328200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr6:143327600-143327800	Enhancers	GM12878-XiMat	blood
8	chr6:143327800-143328400	Flanking Active TSS	GM12878-XiMat	blood
9	chr6:143328200-143328800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr6:143328400-143328600	Enhancers	GM12878-XiMat	blood
11	chr6:143328600-143328800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr6:143328600-143329000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr6:143328600-143329400	Enhancers	NHDF-Ad	bronchial
14	chr6:143328800-143329200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr6:143328800-143329200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr6:143329200-143329400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr6:143329200-143329400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr6:143330600-143331800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr6:143330600-143331800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr6:143335800-143336400	ZNF genes & repeats	GM12878-XiMat	blood
21	chr6:143337200-143344800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr6:143338800-143356400	Weak transcription	Pancreas	Pancrea
23	chr6:143339800-143340200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr6:143339800-143340600	Enhancers	K562	blood
25	chr6:143340000-143340600	Enhancers	Osteobl	bone
26	chr6:143340200-143340400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr6:143340200-143340600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr6:143340600-143345000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr6:143343800-143344200	Enhancers	HepG2	liver
30	chr6:143344800-143345000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr6:143345000-143345400	Enhancers	Psoas Muscle	Psoas
32	chr6:143345000-143345800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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