Variant report

Variant	nsv601227
Chromosome Location	chr6:29356331-29370285
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr6:29360327-29360333	GM12878	blood:	n/a	n/a
2	CCNT2	chr6:29367740-29367926	K562	blood:	n/a	n/a
3	CEBPB	chr6:29367828-29368007	A549	lung:	n/a	chr6:29367948-29367959 chr6:29367948-29367961 chr6:29367950-29367961 chr6:29367948-29367961 chr6:29367948-29367961
4	CEBPB	chr6:29360784-29360961	K562	blood:	n/a	n/a
5	CEBPB	chr6:29367841-29368078	K562	blood:	n/a	chr6:29367948-29367959 chr6:29367948-29367961 chr6:29367950-29367961 chr6:29367948-29367961 chr6:29367948-29367961
6	CEBPB	chr6:29360794-29360885	H1-hESC	embryonic stem cell:	n/a	n/a
7	CEBPB	chr6:29368655-29368953	HepG2	liver:	n/a	chr6:29368822-29368833 chr6:29368769-29368780
8	CEBPB	chr6:29367824-29368096	K562	blood:	n/a	chr6:29367948-29367959 chr6:29367948-29367961 chr6:29367950-29367961 chr6:29367948-29367961 chr6:29367948-29367961
9	CEBPB	chr6:29368651-29368971	K562	blood:	n/a	chr6:29368822-29368833 chr6:29368769-29368780
10	CEBPB	chr6:29367799-29368123	HepG2	liver:	n/a	chr6:29367948-29367959 chr6:29367948-29367961 chr6:29367950-29367961 chr6:29367948-29367961 chr6:29367948-29367961
11	CEBPB	chr6:29367391-29368095	Hela-S3	cervix:	n/a	chr6:29367948-29367959 chr6:29367948-29367961 chr6:29367950-29367961 chr6:29367948-29367961 chr6:29367948-29367961
12	CUX1	chr6:29369377-29369382	K562	blood:	n/a	n/a
13	EBF1	chr6:29365428-29365459	GM12878	blood:	n/a	n/a
14	EP300	chr6:29367309-29367676	K562	blood:	n/a	chr6:29367488-29367502 chr6:29367535-29367549
15	FAM48A	chr6:29363282-29363457	GM12878	blood:	n/a	n/a
16	FOS	chr6:29366025-29366070	MCF10A-Er-Src	breast:	n/a	n/a
17	IRF1	chr6:29366559-29366563	K562	blood:	n/a	n/a
18	IRF1	chr6:29367338-29367576	K562	blood:	n/a	chr6:29367439-29367450 chr6:29367437-29367451 chr6:29367436-29367453 chr6:29367438-29367449 chr6:29367438-29367451 chr6:29367439-29367452 chr6:29367432-29367452 chr6:29367438-29367452 chr6:29367433-29367446 chr6:29367438-29367448 chr6:29367439-29367453 chr6:29367439-29367452 chr6:29367436-29367450 chr6:29367437-29367451 chr6:29367440-29367454 chr6:29367434-29367451 chr6:29367439-29367452 chr6:29367438-29367458
19	JUN	chr6:29356654-29356784	H1-hESC	embryonic stem cell:	n/a	n/a
20	MAFF	chr6:29365811-29365961	HepG2	liver:	n/a	n/a
21	MAFK	chr6:29365766-29365989	HepG2	liver:	n/a	n/a
22	MAFK	chr6:29365747-29365990	HepG2	liver:	n/a	n/a
23	MAFK	chr6:29366603-29366912	HepG2	liver:	n/a	chr6:29366771-29366786 chr6:29366625-29366639
24	MAFK	chr6:29365855-29365894	Hela-S3	cervix:	n/a	n/a
25	MAFK	chr6:29366605-29366860	HepG2	liver:	n/a	chr6:29366771-29366786 chr6:29366625-29366639
26	MYC	chr6:29357621-29357747	MCF10A-Er-Src	breast:	n/a	n/a
27	MYC	chr6:29358514-29358542	H1-hESC	embryonic stem cell:	n/a	n/a
28	NFYB	chr6:29362859-29362968	GM12878	blood:	n/a	n/a
29	POLR2A	chr6:29363706-29363723	MCF10A-Er-Src	breast:	n/a	n/a
30	POLR2A	chr6:29358543-29358785	MCF-7	breast:	n/a	n/a
31	POLR2A	chr6:29358608-29358609	MCF-7	breast:	n/a	n/a
32	POLR2A	chr6:29358629-29358636	MCF-7	breast:	n/a	n/a
33	STAT3	chr6:29356437-29356648	MCF10A-Er-Src	breast:	n/a	n/a
34	TBL1XR1	chr6:29361787-29361797	GM12878	blood:	n/a	n/a
35	YY1	chr6:29359549-29359697	K562	blood:	n/a	n/a
36	ZNF384	chr6:29368760-29368781	GM12878	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:29365078-29365128	SK-N-SH	brain:	n/a
2	chr6:29364963-29365013	HRPEpiC	eye:	n/a
3	chr6:29364799-29364849	HEEpiC	esophagus:	n/a
4	chr6:29364799-29364849	H1-hESC	embryonic stem cell:	embryo
5	chr6:29365261-29365311	IMR90	lung:	fetal
6	chr6:29364963-29365013	BE2_C	brain:	n/a
7	chr6:29365078-29365128	PrEC	prostate:	n/a
8	chr6:29364418-29364468	Hela-S3	cervix:	n/a
9	chr6:29364435-29364485	SK-N-SH	brain:	n/a
10	chr6:29364818-29364868	K562	blood:	n/a
11	chr6:29364554-29364604	T-47D	breast:	n/a
12	chr6:29365261-29365311	HL-60	blood:	n/a
13	chr6:29365261-29365311	SAEC	small airway:	n/a
14	chr6:29365078-29365128	HUVEC	blood vessel:	n/a
15	chr6:29364963-29365013	NT2-D1	testis:	n/a
16	chr6:29364435-29364485	NB4	blood:	n/a
17	chr6:29364818-29364868	BJ	skin:	n/a
18	chr6:29365261-29365311	K562	blood:	n/a
19	chr6:29364963-29365013	NHBE	bronchial:	n/a
20	chr6:29364963-29365013	AG09309	skin:	n/a
21	chr6:29364554-29364604	GM06990	blood:	n/a
22	chr6:29364818-29364868	ProgFib	skin:	n/a
23	chr6:29364435-29364485	HCPEpiC	choroid plexus:	n/a
24	chr6:29364818-29364868	MCF10A-Er-Src	breast:	n/a
25	chr6:29365287-29365337	H1-hESC	embryonic stem cell:	embryo
26	chr6:29364818-29364868	AG09309	skin:	n/a
27	chr6:29364963-29365013	A549	lung:	n/a
28	chr6:29364799-29364849	Caco-2	colon:	n/a
29	chr6:29364799-29364849	ProgFib	skin:	n/a
30	chr6:29365287-29365337	K562	blood:	n/a
31	chr6:29365261-29365311	Jurkat	blood:	n/a
32	chr6:29364963-29365013	SK-N-MC	brain:	n/a
33	chr6:29364963-29365013	Hela-S3	cervix:	n/a
34	chr6:29364435-29364485	PANC-1	pancreas:	n/a
35	chr6:29364554-29364604	GM19239	blood:	n/a
36	chr6:29364554-29364604	AG09319	gingival:	n/a
37	chr6:29364818-29364868	AG04450	lung:	fetal
38	chr6:29364799-29364849	SKMC	muscle:	n/a
39	chr6:29364435-29364485	H1-hESC	embryonic stem cell:	embryo
40	chr6:29364554-29364604	HEK293	kidney:	embryo
41	chr6:29365287-29365337	HL-60	blood:	n/a
42	chr6:29364418-29364468	NB4	blood:	n/a
43	chr6:29364418-29364468	AG04450	lung:	fetal
44	chr6:29365078-29365128	ovcar-3	ovarian:	n/a
45	chr6:29365287-29365337	GM12891	blood:	n/a
46	chr6:29364818-29364868	H1-hESC	embryonic stem cell:	embryo
47	chr6:29364963-29365013	HAEpiC	amniotic membrane:	n/a
48	chr6:29364602-29364652	GM12891	blood:	n/a
49	chr6:29365287-29365337	RPTEC	kidney:	n/a
50	chr6:29364818-29364868	NT2-D1	testis:	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:29357893..29360361-chr6:29362653..29364829,2	K562	blood:
2	chr6:29358589..29361561-chr6:29362691..29365009,2	K562	blood:
3	chr6:29332977..29335770-chr6:29360286..29362629,2	K562	blood:

Variant related genes	Relation type
OR12D2	TF binding region
OR12D2	CpG island
ENSG00000168787	chromatin interactions

Extended variants
information (count: 152 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:152 , 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	rs144359472	chr6:29357917-29357918	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs558183668	chr6:29357965-29357966	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs4713214	chr6:29357996-29357997	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs115384092	chr6:29358022-29358023	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs181654887	chr6:29358046-29358047	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs573820725	chr6:29358078-29358079	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs556007580	chr6:29358259-29358260	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs552983591	chr6:29358265-29358266	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs112846568	chr6:29358281-29358282	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs533972128	chr6:29358377-29358378	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs186706833	chr6:29358380-29358381	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs553724119	chr6:29358426-29358427	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs565063653	chr6:29358433-29358434	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs191044721	chr6:29358442-29358443	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs544045342	chr6:29358457-29358458	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs560748331	chr6:29358466-29358467	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs146127852	chr6:29358507-29358508	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs572410013	chr6:29358528-29358529	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs182948062	chr6:29358599-29358600	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs566131887	chr6:29358611-29358612	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs528500187	chr6:29358617-29358618	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs1592404	chr6:29358676-29358677	Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs62408567	chr6:29358700-29358701	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs572003974	chr6:29358785-29358786	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs537731696	chr6:29358851-29358852	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs372856071	chr6:29358898-29358899	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs551240568	chr6:29358901-29358902	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs1592403	chr6:29358933-29358934	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs139957160	chr6:29359024-29359025	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs9257816	chr6:29359112-29359113	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs572875717	chr6:29359125-29359126	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs149845717	chr6:29359128-29359129	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs558123801	chr6:29359138-29359139	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs575193209	chr6:29359150-29359151	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs6931228	chr6:29359170-29359171	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs145883097	chr6:29359199-29359200	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs118144788	chr6:29359231-29359232	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs149030348	chr6:29359260-29359261	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs186625462	chr6:29359267-29359268	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs528569990	chr6:29359279-29359280	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs551525127	chr6:29359290-29359291	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs565276673	chr6:29359291-29359292	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs17183932	chr6:29359305-29359306	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs551302238	chr6:29359399-29359400	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs567924135	chr6:29359404-29359405	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs9257817	chr6:29359410-29359411	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs551328689	chr6:29359441-29359442	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs144248823	chr6:29359517-29359518	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs559848269	chr6:29359543-29359544	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs566488887	chr6:29359544-29359545	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:105)

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
Melanoma	17363583	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:29358400-29358800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr6:29362000-29363000	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr6:29362400-29363000	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr6:29362600-29363000	Enhancers	iPS-15b Cell Line	embryonic stem cell

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