Variant report

Variant	nsv970072
Chromosome Location	chr6:4979076-4982874
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CBX3	chr6:4979689-4980047	K562	blood:	n/a	n/a
2	CBX3	chr6:4979592-4980306	K562	blood:	n/a	n/a
3	CTCF	chr6:4982220-4982370	HBMEC	blood vessel:	n/a	n/a
4	GATA2	chr6:4981992-4982824	SH-SY5Y	brain:	n/a	n/a
5	GATA3	chr6:4982317-4982595	SH-SY5Y	brain:	n/a	n/a
6	JUN	chr6:4979767-4980017	K562	blood:	n/a	n/a
7	KAP1	chr6:4979459-4980315	K562	blood:	n/a	n/a
8	MAX	chr6:4982385-4982393	NB4	blood:	n/a	n/a
9	SETDB1	chr6:4979573-4980137	U2OS	brain:	n/a	n/a
10	SETDB1	chr6:4979062-4980333	K562	blood:	n/a	n/a
11	STAT3	chr6:4979102-4979215	MCF10A-Er-Src	breast:	n/a	chr6:4979103-4979111

No data

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

No.	Distal block	Cell Line	Cell type
1	chr6:4980886..4983187-chr6:5000128..5002637,2	K562	blood:
2	chr6:4980477..4982154-chr6:4983447..4984989,2	K562	blood:
3	chr6:4972160..4974386-chr6:4980917..4982666,2	K562	blood:
4	chr6:4982550..4985450-chr6:5030123..5032818,2	K562	blood:
5	chr6:4976929..4979884-chr6:4982508..4985297,3	K562	blood:
6	chr6:4980056..4981977-chr6:4983489..4985238,2	K562	blood:
7	chr6:4976929..4979800-chr6:4982813..4985297,2	K562	blood:
8	chr6:4982368..4985908-chr6:4994564..4997355,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000217030	TF binding region
ENSG00000272142	chromatin interactions
ENSG00000217030	chromatin interactions

Extended variants
information (count: 144 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:144 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201871966	chr6:4979086-4979087	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs140743718	chr6:4979091-4979092	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs553310029	chr6:4979109-4979110	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs368799664	chr6:4979114-4979115	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs577116874	chr6:4979115-4979116	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs113737872	chr6:4979119-4979120	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs563103943	chr6:4979217-4979218	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs2793223	chr6:4979236-4979237	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs187442410	chr6:4979282-4979283	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs2793224	chr6:4979355-4979356	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs527729471	chr6:4979362-4979363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs62384719	chr6:4979403-4979404	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs547811935	chr6:4979404-4979405	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs2764180	chr6:4979405-4979406	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs116560593	chr6:4979412-4979413	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs565822526	chr6:4979438-4979439	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs534960053	chr6:4979442-4979443	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs369983306	chr6:4979449-4979450	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs62384720	chr6:4979468-4979469	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs549772775	chr6:4979507-4979508	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs112478039	chr6:4979553-4979554	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs144920702	chr6:4979564-4979565	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs571868591	chr6:4979567-4979568	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs570814644	chr6:4979582-4979583	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs372479306	chr6:4979609-4979610	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs555075946	chr6:4979637-4979638	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs539854517	chr6:4979660-4979661	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs2793225	chr6:4979686-4979687	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs147964096	chr6:4979708-4979709	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs557332240	chr6:4979728-4979729	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs2764181	chr6:4979730-4979731	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs141734009	chr6:4979787-4979788	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs556549462	chr6:4979861-4979862	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs147092134	chr6:4979917-4979918	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs75938624	chr6:4979947-4979948	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs398093960	chr6:4979948-4979949	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs1246946	chr6:4979956-4979957	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs9502257	chr6:4979969-4979970	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs2793226	chr6:4980016-4980017	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs555966304	chr6:4980033-4980034	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs191211702	chr6:4980070-4980071	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs2793227	chr6:4980077-4980078	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs183406173	chr6:4980079-4980080	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs550078514	chr6:4980114-4980115	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs541662570	chr6:4980155-4980156	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs569833942	chr6:4980200-4980201	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs529125334	chr6:4980209-4980210	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs548763068	chr6:4980210-4980211	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs565490115	chr6:4980212-4980213	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs564448002	chr6:4980260-4980261	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

Disease	PMID	Source
Developmental delay	19490664	CNVD
Cancer	21183584	CNVD
Multiple Epiphyseal Dysplasia	20877625	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Glaucoma	18694899	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	CNVD
Cancer	20164920	CNVD
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
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Myelodysplastic syndrome	21251322	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Bladder cancer	21909424	CNVD
Multiple myeloma	17550852	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21364760	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	CNVD
Autism	22495311	CNVD
Autism	21448237	CNVD
Cancer	20164919	CNVD
Melanoma	18172304	CNVD
Invasive pancreatic ductal carcinoma	16982739	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
small cell lung cancer	20016488	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
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Nasopharyngeal cancer	22815911	CNVD
dysmorphism	22105932	CNVD
psychomotor delay	22105932	CNVD
Ovarian cancer	19193619	CNVD
Osteosarcoma	16790693	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:4975000-4979400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr6:4978000-4979400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr6:4979400-4979600	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr6:4979400-4979800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr6:4979400-4979800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
6	chr6:4979400-4980000	ZNF genes & repeats	Brain Hippocampus Middle	brain
7	chr6:4979600-4980400	ZNF genes & repeats	Primary T cells from cord blood	blood
8	chr6:4979600-4985400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr6:4980000-4980400	Weak transcription	Brain Hippocampus Middle	brain
10	chr6:4980400-4989800	Weak transcription	Primary T cells from cord blood	blood
11	chr6:4980600-4981400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr6:4981600-4984200	Enhancers	HepG2	liver
13	chr6:4982000-4982400	ZNF genes & repeats	Right Atrium	heart
14	chr6:4982000-4982600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr6:4982000-4982600	Enhancers	Fetal Thymus	thymus
16	chr6:4982000-4983000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr6:4982000-4985200	Enhancers	Primary neutrophils fromperipheralblood	blood
18	chr6:4982200-4982600	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr6:4982400-4982600	Enhancers	Fetal Muscle Trunk	muscle
20	chr6:4982400-4985200	Weak transcription	Right Atrium	heart
21	chr6:4982400-4995000	Weak transcription	Stomach Smooth Muscle	stomach
22	chr6:4982600-4984400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr6:4982600-4991000	Weak transcription	Fetal Muscle Trunk	muscle
24	chr6:4982600-4995000	Weak transcription	Fetal Thymus	thymus

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