Variant report

Variant	nsv520169
Chromosome Location	chr6:29302030-29324599
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:82)
CpG islands
(count:488)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:82 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CCNT2	chr6:29309500-29309538	K562	blood:	n/a	n/a
2	CEBPB	chr6:29306934-29306973	H1-hESC	embryonic stem cell:	n/a	chr6:29306952-29306963
3	CEBPB	chr6:29306840-29307110	K562	blood:	n/a	chr6:29306952-29306963
4	CEBPB	chr6:29306844-29307047	A549	lung:	n/a	chr6:29306952-29306963
5	CEBPB	chr6:29306814-29307080	IMR90	lung:	n/a	chr6:29306952-29306963
6	CEBPB	chr6:29306776-29307114	HepG2	liver:	n/a	chr6:29306952-29306963
7	CTCF	chr6:29323480-29323630	GM06990	blood:	n/a	n/a
8	CTCF	chr6:29317176-29317184	MCF-7	breast:	n/a	n/a
9	CTCF	chr6:29323560-29323710	GM12864	blood:	n/a	n/a
10	CTCF	chr6:29323540-29323690	HEK293	kidney:	n/a	n/a
11	CTCF	chr6:29323520-29323670	GM12871	blood:	n/a	n/a
12	CTCF	chr6:29323502-29323799	K562	blood:	n/a	n/a
13	CTCF	chr6:29323460-29323610	GM12865	blood:	n/a	n/a
14	CTCF	chr6:29323526-29323721	HepG2	liver:	n/a	n/a
15	CTCF	chr6:29323460-29323610	HEK293	kidney:	n/a	n/a
16	CTCF	chr6:29323548-29323675	Gliobla	brain:	n/a	n/a
17	CTCF	chr6:29323574-29323678	MCF-7	breast:	n/a	n/a
18	CTCF	chr6:29323560-29323710	GM12869	blood:	n/a	n/a
19	CTCF	chr6:29323555-29323699	GM12878	blood:	n/a	n/a
20	CTCF	chr6:29323520-29323670	WERI-Rb-1	eye:	n/a	n/a
21	CTCF	chr6:29323575-29323676	GM10266	blood:	n/a	n/a
22	CTCF	chr6:29323520-29323670	HBMEC	blood vessel:	n/a	n/a
23	CTCF	chr6:29323600-29323750	GM12864	blood:	n/a	n/a
24	CTCF	chr6:29323565-29323654	GM10248	blood:	n/a	n/a
25	CTCF	chr6:29323560-29323710	HMEC	breast:	n/a	n/a
26	CTCF	chr6:29323527-29323680	H1-hESC	embryonic stem cell:	n/a	n/a
27	CTCF	chr6:29323540-29323721	K562	blood:	n/a	n/a
28	CTCF	chr6:29323460-29323610	GM12873	blood:	n/a	n/a
29	CTCF	chr6:29323720-29323870	GM12865	blood:	n/a	n/a
30	CTCF	chr6:29323460-29323610	WERI-Rb-1	eye:	n/a	n/a
31	CTCF	chr6:29323540-29323690	GM12875	blood:	n/a	n/a
32	CTCF	chr6:29323580-29323730	GM12872	blood:	n/a	n/a
33	CTCF	chr6:29323520-29323670	GM06990	blood:	n/a	n/a
34	CTCF	chr6:29323440-29323590	HCT-116	colon:	n/a	n/a
35	CTCF	chr6:29323551-29323690	Hela-S3	cervix:	n/a	n/a
36	CTCF	chr6:29319676-29319715	GM10248	blood:	n/a	n/a
37	CTCF	chr6:29323576-29323703	HepG2	liver:	n/a	n/a
38	CTCF	chr6:29323540-29323690	K562	blood:	n/a	n/a
39	CTCF	chr6:29323540-29323690	GM12866	blood:	n/a	n/a
40	CTCF	chr6:29323485-29323790	GM12878	blood:	n/a	n/a
41	CTCF	chr6:29323520-29323670	GM12865	blood:	n/a	n/a
42	CTCF	chr6:29323520-29323670	HepG2	liver:	n/a	n/a
43	E2F4	chr6:29303172-29303433	MCF10A-Er-Src	breast:	n/a	n/a
44	JUN	chr6:29310833-29310922	K562	blood:	n/a	n/a
45	MAFF	chr6:29313202-29313513	K562	blood:	n/a	chr6:29313348-29313366
46	MAFF	chr6:29322789-29323102	HepG2	liver:	n/a	chr6:29322945-29322963
47	MAFF	chr6:29313188-29313532	HepG2	liver:	n/a	chr6:29313348-29313366
48	MAFF	chr6:29322821-29323053	K562	blood:	n/a	chr6:29322945-29322963
49	MAFK	chr6:29313188-29313530	HepG2	liver:	n/a	chr6:29313349-29313364
50	MAFK	chr6:29313180-29313524	IMR90	lung:	n/a	chr6:29313349-29313364

(count:488 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:29323330-29323380	Caco-2	colon:	n/a
2	chr6:29323330-29323380	GM12891	blood:	n/a
3	chr6:29310293-29310343	Jurkat	blood:	n/a
4	chr6:29310293-29310343	HUVEC	blood vessel:	n/a
5	chr6:29323978-29324028	HRPEpiC	eye:	n/a
6	chr6:29323210-29323260	T-47D	breast:	n/a
7	chr6:29323191-29323241	GM12891	blood:	n/a
8	chr6:29323330-29323380	AoSMC	blood vessel:	n/a
9	chr6:29324300-29324350	HEEpiC	esophagus:	n/a
10	chr6:29323191-29323241	GM12878	blood:	n/a
11	chr6:29323191-29323241	HCM	heart:	n/a
12	chr6:29323269-29323319	AoSMC	blood vessel:	n/a
13	chr6:29324300-29324350	NT2-D1	testis:	n/a
14	chr6:29324300-29324350	HEK293	kidney:	embryo
15	chr6:29324300-29324350	SK-N-SH	brain:	n/a
16	chr6:29323330-29323380	MCF10A-Er-Src	breast:	n/a
17	chr6:29323330-29323380	CMK	blood:	n/a
18	chr6:29323269-29323319	HL-60	blood:	n/a
19	chr6:29323978-29324028	Hepatocyte	liver:	n/a
20	chr6:29310293-29310343	HL-60	blood:	n/a
21	chr6:29324414-29324464	AG09319	gingival:	n/a
22	chr6:29323330-29323380	LNCaP	prostate:	n/a
23	chr6:29323191-29323241	Hela-S3	cervix:	n/a
24	chr6:29323269-29323319	HUVEC	blood vessel:	n/a
25	chr6:29324414-29324464	HPAEpiC	pulmonary alveolar:	n/a
26	chr6:29310293-29310343	BE2_C	brain:	n/a
27	chr6:29323269-29323319	SK-N-MC	brain:	n/a
28	chr6:29323978-29324028	AG04450	lung:	fetal
29	chr6:29323210-29323260	MCF10A-Er-Src	breast:	n/a
30	chr6:29323269-29323319	Jurkat	blood:	n/a
31	chr6:29324414-29324464	MCF10A-Er-Src	breast:	n/a
32	chr6:29323269-29323319	HRCEpiC	kidney:	n/a
33	chr6:29310293-29310343	K562	blood:	n/a
34	chr6:29324300-29324350	ProgFib	skin:	n/a
35	chr6:29323330-29323380	ECC-1	luminal epithelium:	n/a
36	chr6:29310293-29310343	ProgFib	skin:	n/a
37	chr6:29323269-29323319	ProgFib	skin:	n/a
38	chr6:29323191-29323241	AG04450	lung:	fetal
39	chr6:29323269-29323319	AG04450	lung:	fetal
40	chr6:29323210-29323260	HEEpiC	esophagus:	n/a
41	chr6:29323269-29323319	U87	brain:	n/a
42	chr6:29324300-29324350	HUVEC	blood vessel:	n/a
43	chr6:29310293-29310343	NH-A	brain:	n/a
44	chr6:29324300-29324350	SAEC	small airway:	n/a
45	chr6:29323210-29323260	NH-A	brain:	n/a
46	chr6:29323330-29323380	MCF-7	breast:	n/a
47	chr6:29324300-29324350	AG04450	lung:	fetal
48	chr6:29324300-29324350	HCM	heart:	n/a
49	chr6:29323978-29324028	HepG2	liver:	n/a
50	chr6:29323330-29323380	SKMC	muscle:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:29299088..29300651-chr6:29303507..29306085,2	MCF-7	breast:

No data

Variant related genes	Relation type
DDX6P1	TF binding region
OR5V1	TF binding region
DDX6P1	CpG island
OR5V1	CpG island

Extended variants
information (count: 76 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:76 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372891550	chr6:29302182-29302183	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs9257736	chr6:29302186-29302187	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs184548577	chr6:29302200-29302201	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs9257737	chr6:29302205-29302206	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs537898641	chr6:29302235-29302236	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs554572823	chr6:29302238-29302239	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs147217319	chr6:29302247-29302248	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs139290813	chr6:29303198-29303199	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs9380119	chr6:29303200-29303201	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs3117433	chr6:29303364-29303365	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs552009662	chr6:29311408-29311409	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs62406047	chr6:29311421-29311422	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs182195005	chr6:29311428-29311429	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs576614355	chr6:29311497-29311498	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs372853849	chr6:29311525-29311526	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs78975339	chr6:29311535-29311536	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs76941259	chr6:29311536-29311537	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs538778761	chr6:29311568-29311569	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs140333527	chr6:29311682-29311683	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs575638349	chr6:29311683-29311684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs367721719	chr6:29311702-29311703	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs377011004	chr6:29311729-29311730	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs544287378	chr6:29311741-29311742	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs528331413	chr6:29311800-29311801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs188024413	chr6:29311802-29311803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs575231401	chr6:29311821-29311822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs368026194	chr6:29311825-29311826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs546798891	chr6:29311916-29311917	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs202205289	chr6:29311922-29311923	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs532729366	chr6:29311926-29311927	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs371319721	chr6:29311936-29311937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs552347857	chr6:29311962-29311963	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs375037057	chr6:29311979-29311980	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs141436521	chr6:29323210-29323211	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs111683139	chr6:29323215-29323216	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs113438105	chr6:29323221-29323222	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs367548046	chr6:29323230-29323231	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs41271546	chr6:29323245-29323246	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs149477718	chr6:29323251-29323252	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs3117438	chr6:29323259-29323260	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs148190376	chr6:29323270-29323271	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs150721968	chr6:29323297-29323298	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs533034350	chr6:29323298-29323299	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs139732289	chr6:29323309-29323310	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs551980706	chr6:29323313-29323314	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs145309335	chr6:29323356-29323357	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs369984958	chr6:29323364-29323365	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs371879502	chr6:29323428-29323429	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs147187435	chr6:29323439-29323440	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs563440438	chr6:29323447-29323448	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

Disease	PMID	Source
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
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	CNVD
Autism	21448237	CNVD
Cancer	20164919	CNVD
Melanoma	18172304	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
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
Chronic lymphocytic leukemia	21546498	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Nasopharyngeal cancer	22815911	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	17133270	CNVD
Autism	22495311	CNVD
Cancer	16790693	CNVD
Breast cancer	22032731	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21785460	CNVD
Retinoblastoma	16790693	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
T-cell lymphomas	19863542	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18765545	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16397240	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	19571809	CNVD
Schizophrenia	19571808	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
abnormal development	18461090	CNVD
Breast cancer	21509527	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:29311400-29312000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr6:29323200-29323600	Enhancers	H1 Cell Line	embryonic stem cell
3	chr6:29323200-29323600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr6:29323200-29323600	Active TSS	Brain Substantia Nigra	brain
5	chr6:29323200-29323800	Enhancers	H9 Cell Line	embryonic stem cell

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