Variant report

Variant	nsv970124
Chromosome Location	chr6:56839095-56846057
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:29)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:29 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr6:56842039-56842419	GM12878	blood:	n/a	n/a
2	CEBPB	chr6:56843934-56844134	IMR90	lung:	n/a	chr6:56843951-56843962
3	CEBPB	chr6:56843600-56844276	HepG2	liver:	n/a	chr6:56843933-56843944 chr6:56843951-56843962
4	EP300	chr6:56841950-56842500	GM12878	blood:	n/a	n/a
5	FOS	chr6:56841959-56842152	MCF10A-Er-Src	breast:	n/a	n/a
6	FOSL1	chr6:56841895-56842347	HCT-116	colon:	n/a	n/a
7	FOXA1	chr6:56843354-56843603	HepG2	liver:	n/a	n/a
8	FOXA1	chr6:56843195-56843764	HepG2	liver:	n/a	n/a
9	FOXA1	chr6:56843255-56843757	HepG2	liver:	n/a	n/a
10	FOXA1	chr6:56843385-56843660	HepG2	liver:	n/a	n/a
11	FOXA2	chr6:56843320-56843718	HepG2	liver:	n/a	n/a
12	HDAC2	chr6:56843278-56843652	HepG2	liver:	n/a	n/a
13	JUN	chr6:56844418-56844514	H1-hESC	embryonic stem cell:	n/a	n/a
14	KAP1	chr6:56842072-56842427	K562	blood:	n/a	n/a
15	MAX	chr6:56840663-56840800	NB4	blood:	n/a	n/a
16	MEF2A	chr6:56841876-56842295	GM12878	blood:	n/a	n/a
17	MEF2A	chr6:56841948-56842510	GM12878	blood:	n/a	n/a
18	MEF2C	chr6:56841943-56842587	GM12878	blood:	n/a	n/a
19	MYC	chr6:56840765-56840783	MCF-7	breast:	n/a	n/a
20	MYC	chr6:56842632-56842696	MCF-7	breast:	n/a	n/a
21	MYC	chr6:56842047-56842231	MCF10A-Er-Src	breast:	n/a	n/a
22	MYC	chr6:56840756-56840763	MCF-7	breast:	n/a	n/a
23	POLR2A	chr6:56840750-56840774	Gliobla	brain:	n/a	n/a
24	POLR2A	chr6:56839511-56839517	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr6:56839537-56839686	H1-hESC	embryonic stem cell:	n/a	n/a
26	SETDB1	chr6:56841940-56842494	U2OS	brain:	n/a	n/a
27	TCF7L2	chr6:56844225-56844425	HepG2	liver:	n/a	n/a
28	TCF7L2	chr6:56843388-56843953	HepG2	liver:	n/a	n/a
29	ZNF384	chr6:56842070-56842345	GM12878	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:56506621..56508645-chr6:56839158..56841779,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DST-2	chr6:56840404-56840860	NONHSAT113255

No data

Variant related genes	Relation type
OSTCP6	TF binding region
ENSG00000151914	chromatin interactions

Extended variants
information (count: 212 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:212 , 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	rs536326167	chr6:56839278-56839279	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs117732978	chr6:56839416-56839417	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs570117207	chr6:56839418-56839419	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs113200838	chr6:56839422-56839423	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs2397227	chr6:56839507-56839508	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs181756951	chr6:56839555-56839556	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs55790312	chr6:56839605-56839606	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs545066227	chr6:56839637-56839638	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs553778733	chr6:56839657-56839658	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs572204222	chr6:56839675-56839676	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs542708514	chr6:56839730-56839731	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs550819463	chr6:56839748-56839749	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs375147545	chr6:56839785-56839786	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs539492810	chr6:56839800-56839801	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs576108166	chr6:56839869-56839870	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs543709604	chr6:56839902-56839903	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs565073909	chr6:56839904-56839905	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs9396244	chr6:56839911-56839912	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs113754226	chr6:56839980-56839981	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs184247399	chr6:56839984-56839985	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs546983716	chr6:56840040-56840041	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs144053710	chr6:56840084-56840085	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs145892626	chr6:56840085-56840086	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs79148457	chr6:56840087-56840088	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs546703868	chr6:56840126-56840127	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs61238475	chr6:56840133-56840134	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs547415970	chr6:56840147-56840148	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs140465128	chr6:56840161-56840162	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs145637718	chr6:56840164-56840165	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs112950080	chr6:56840179-56840180	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs557590808	chr6:56840215-56840216	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs138256677	chr6:56840321-56840322	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs189345982	chr6:56840329-56840330	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs1839837	chr6:56840346-56840347	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs181758713	chr6:56840365-56840366	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs150225892	chr6:56840393-56840394	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs79867747	chr6:56840399-56840400	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs572041111	chr6:56840442-56840443	ZNF genes & repeats Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
39	rs536354413	chr6:56840450-56840451	ZNF genes & repeats Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
40	rs149301742	chr6:56840459-56840460	ZNF genes & repeats Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
41	rs185238137	chr6:56840518-56840519	ZNF genes & repeats Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
42	rs563656188	chr6:56840543-56840544	ZNF genes & repeats Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
43	rs9396245	chr6:56840553-56840554	ZNF genes & repeats Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs144579419	chr6:56840554-56840555	ZNF genes & repeats Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
45	rs576761804	chr6:56840578-56840579	ZNF genes & repeats Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
46	rs115197371	chr6:56840580-56840581	ZNF genes & repeats Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
47	rs577676435	chr6:56840608-56840609	ZNF genes & repeats Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
48	rs559345949	chr6:56840629-56840630	ZNF genes & repeats Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
49	rs577232562	chr6:56840648-56840649	ZNF genes & repeats Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
50	rs141527610	chr6:56840675-56840676	ZNF genes & repeats Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
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
Glioblastoma multiforme	21080181	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
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21858162	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
Chronic lymphocytic leukemia	21546498	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
small cell lung cancer	20016488	CNVD
Gastric cancer	17908304	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Osteosarcoma	16790693	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
Lung cancer	18438408	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	17603634	CNVD
Neurocytoma	17123091	CNVD
Systemic lupus erythematosus	17503323	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	16608533	CNVD
Melanoma	18172304	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Neuroblastoma	19686582	CNVD
Neuroblastoma	17289879	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	16912164	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Intellectual disability	21811512	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21509527	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:56828000-56841600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr6:56836400-56840600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr6:56840200-56841000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr6:56840600-56840800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr6:56840600-56841200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr6:56841800-56842000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr6:56841800-56842800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr6:56843200-56844000	Enhancers	HepG2	liver
9	chr6:56844800-56863800	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr6:56846000-56848600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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