Variant report

Variant	nsv965727
Chromosome Location	chr6:56294729-56298343
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:18)
CpG islands
(count:793)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:18 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	E2F6	chr6:56295747-56296528	H1-hESC	embryonic stem cell:	n/a	chr6:56296182-56296189 chr6:56296182-56296189 chr6:56296182-56296189
2	E2F6	chr6:56296064-56296277	K562	blood:	n/a	chr6:56296182-56296189 chr6:56296182-56296189 chr6:56296182-56296189
3	E2F6	chr6:56295965-56296393	H1-hESC	embryonic stem cell:	n/a	chr6:56296182-56296189 chr6:56296182-56296189 chr6:56296182-56296189
4	MAX	chr6:56296068-56296341	H1-hESC	embryonic stem cell:	n/a	n/a
5	MAX	chr6:56296007-56296357	K562	blood:	n/a	n/a
6	MAX	chr6:56295981-56296363	H1-hESC	embryonic stem cell:	n/a	n/a
7	MYC	chr6:56295207-56295290	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr6:56297270-56297326	MCF-7	breast:	n/a	n/a
9	POLR2A	chr6:56297216-56297231	MCF-7	breast:	n/a	n/a
10	POLR2A	chr6:56297818-56297829	MCF-7	breast:	n/a	n/a
11	POLR2A	chr6:56297133-56297143	MCF-7	breast:	n/a	n/a
12	POLR2A	chr6:56297145-56297270	MCF-7	breast:	n/a	n/a
13	POLR2A	chr6:56297362-56297392	MCF-7	breast:	n/a	n/a
14	POLR2A	chr6:56295713-56295791	MCF-7	breast:	n/a	n/a
15	POLR2A	chr6:56297549-56297673	MCF-7	breast:	n/a	n/a
16	POLR2A	chr6:56297316-56297328	MCF-7	breast:	n/a	n/a
17	POLR2A	chr6:56297836-56297854	MCF-7	breast:	n/a	n/a
18	UBTF	chr6:56296660-56296672	K562	blood:	n/a	n/a

(count:793 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:56296346-56296396	Jurkat	blood:	n/a
2	chr6:56296129-56296179	T-47D	breast:	n/a
3	chr6:56295593-56295643	HCF	heart:	n/a
4	chr6:56295023-56295073	BE2_C	brain:	n/a
5	chr6:56296240-56296290	AG09319	gingival:	n/a
6	chr6:56296129-56296179	HIPEpiC	eye:	n/a
7	chr6:56298173-56298223	T-47D	breast:	n/a
8	chr6:56298004-56298054	CMK	blood:	n/a
9	chr6:56296346-56296396	HRPEpiC	eye:	n/a
10	chr6:56296165-56296215	Jurkat	blood:	n/a
11	chr6:56298004-56298054	Hepatocyte	liver:	n/a
12	chr6:56295593-56295643	Hepatocyte	liver:	n/a
13	chr6:56297169-56297219	RPTEC	kidney:	n/a
14	chr6:56298173-56298223	CMK	blood:	n/a
15	chr6:56297263-56297313	ECC-1	luminal epithelium:	n/a
16	chr6:56296165-56296215	AG10803	skin:	n/a
17	chr6:56297393-56297443	SAEC	small airway:	n/a
18	chr6:56297169-56297219	K562	blood:	n/a
19	chr6:56298004-56298054	HEK293	kidney:	embryo
20	chr6:56295023-56295073	Hela-S3	cervix:	n/a
21	chr6:56296165-56296215	ECC-1	luminal epithelium:	n/a
22	chr6:56296240-56296290	NT2-D1	testis:	n/a
23	chr6:56296240-56296290	GM12878	blood:	n/a
24	chr6:56296129-56296179	GM12891	blood:	n/a
25	chr6:56296240-56296290	AG09309	skin:	n/a
26	chr6:56296129-56296179	NB4	blood:	n/a
27	chr6:56298004-56298054	MCF10A-Er-Src	breast:	n/a
28	chr6:56295546-56295596	NT2-D1	testis:	n/a
29	chr6:56298004-56298054	NB4	blood:	n/a
30	chr6:56297393-56297443	LNCaP	prostate:	n/a
31	chr6:56295629-56295679	AG04449	skin:	fetal
32	chr6:56296165-56296215	HCM	heart:	n/a
33	chr6:56296165-56296215	HL-60	blood:	n/a
34	chr6:56297393-56297443	HL-60	blood:	n/a
35	chr6:56296240-56296290	SK-N-MC	brain:	n/a
36	chr6:56295593-56295643	ECC-1	luminal epithelium:	n/a
37	chr6:56296240-56296290	A549	lung:	n/a
38	chr6:56295629-56295679	HCPEpiC	choroid plexus:	n/a
39	chr6:56295629-56295679	PrEC	prostate:	n/a
40	chr6:56297169-56297219	Hepatocyte	liver:	n/a
41	chr6:56295546-56295596	SKMC	muscle:	n/a
42	chr6:56296240-56296290	NB4	blood:	n/a
43	chr6:56297169-56297219	NB4	blood:	n/a
44	chr6:56295593-56295643	GM19239	blood:	n/a
45	chr6:56297169-56297219	AG04449	skin:	fetal
46	chr6:56295023-56295073	HL-60	blood:	n/a
47	chr6:56295593-56295643	MCF-7	breast:	n/a
48	chr6:56297169-56297219	HEK293	kidney:	embryo
49	chr6:56297169-56297219	ProgFib	skin:	n/a
50	chr6:56295629-56295679	PFSK-1	brain:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:56298331..56299890-chr6:56404895..56406980,2	MCF-7	breast:
2	chr6:56293649..56295565-chr6:56296987..56298502,2	MCF-7	breast:

No data

Variant related genes	Relation type
RCC2P7	TF binding region
ENSG00000266793	TF binding region
RCC2P7	CpG island
ENSG00000266793	CpG island
ENSG00000151914	chromatin interactions
ENSG00000220666	chromatin interactions
ENSG00000266793	chromatin interactions

Extended variants
information (count: 154 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:154 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs142948606	chr6:56294807-56294808	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs532561960	chr6:56294810-56294811	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs150910071	chr6:56294829-56294830	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs566175331	chr6:56294850-56294851	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs536787368	chr6:56294877-56294878	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs548473521	chr6:56294892-56294893	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs570252205	chr6:56294924-56294925	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs192222344	chr6:56294979-56294980	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs537310512	chr6:56295062-56295063	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs558831278	chr6:56295076-56295077	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs111285840	chr6:56295086-56295087	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs368601972	chr6:56295127-56295128	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs538241007	chr6:56295130-56295131	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs553389139	chr6:56295141-56295142	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs139390965	chr6:56295153-56295154	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs150043975	chr6:56295194-56295195	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs560893125	chr6:56295257-56295258	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs576204356	chr6:56295292-56295293	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs115816081	chr6:56295297-56295298	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs182334860	chr6:56295319-56295320	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs144326383	chr6:56295344-56295345	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs34890211	chr6:56295349-56295350	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs71549710	chr6:56295356-56295357	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs547804149	chr6:56295399-56295400	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs559811936	chr6:56295531-56295532	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs71560974	chr6:56295532-56295533	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs594435	chr6:56295538-56295539	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs570106998	chr6:56295565-56295566	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs535021939	chr6:56295619-56295620	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs607271	chr6:56295621-56295622	Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs531937805	chr6:56295652-56295653	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs606894	chr6:56295657-56295658	Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs535936003	chr6:56295677-56295678	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs186638283	chr6:56295705-56295706	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs576110040	chr6:56295749-56295750	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs543641386	chr6:56295799-56295800	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs558828694	chr6:56295835-56295836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs207466995	chr6:56295944-56295945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs112788331	chr6:56295975-56295976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs541357109	chr6:56296005-56296006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs9357918	chr6:56296009-56296010	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs9475695	chr6:56296048-56296049	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs201807803	chr6:56296057-56296058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs182388969	chr6:56296069-56296070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs563797888	chr6:56296102-56296103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs530946764	chr6:56296129-56296130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs377282693	chr6:56296151-56296152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs552335183	chr6:56296155-56296156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs34702645	chr6:56296173-56296174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs146830506	chr6:56296180-56296181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
Breast cancer	22522925	CNVD
Central neurocytomas	17123091	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:56295600-56295800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:56295600-56295800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr6:56295800-56297200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr6:56296800-56297000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr6:56296800-56297000	Bivalent Enhancer	K562	blood
6	chr6:56296800-56297600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr6:56297000-56297200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr6:56297000-56297800	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr6:56297200-56297400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr6:56297400-56297800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr6:56297800-56298200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr6:56298000-56298400	ZNF genes & repeats	Fetal Intestine Large	intestine

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