Variant report

Variant	nsv1029195
Chromosome Location	chr8:4229456-4249074
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:23)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:23 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr8:4242430-4242568	A549	lung:	n/a	n/a
2	CTCF	chr8:4244652-4244790	Pancreas_OC	pancreas:	n/a	chr8:4244685-4244706 chr8:4244691-4244707 chr8:4244690-4244708
3	E2F6	chr8:4238700-4238954	H1-hESC	embryonic stem cell:	n/a	chr8:4238782-4238793 chr8:4238779-4238796 chr8:4238779-4238796
4	E2F6	chr8:4238516-4239067	H1-hESC	embryonic stem cell:	n/a	chr8:4238782-4238793 chr8:4238779-4238796 chr8:4238779-4238796
5	JUND	chr8:4238746-4238897	H1-hESC	embryonic stem cell:	n/a	n/a
6	MAFF	chr8:4236818-4237053	K562	blood:	n/a	chr8:4236963-4236981
7	MAFF	chr8:4236803-4237153	HepG2	liver:	n/a	chr8:4236963-4236981
8	MAFK	chr8:4236834-4237070	K562	blood:	n/a	n/a
9	MAFK	chr8:4236804-4237130	HepG2	liver:	n/a	n/a
10	MAFK	chr8:4236798-4237141	IMR90	lung:	n/a	n/a
11	MAFK	chr8:4236799-4237157	HepG2	liver:	n/a	n/a
12	MAX	chr8:4238698-4238996	H1-hESC	embryonic stem cell:	n/a	n/a
13	MYC	chr8:4229982-4230032	K562	blood:	n/a	n/a
14	POLR2A	chr8:4248044-4248184	GM12878	blood:	n/a	n/a
15	POLR2A	chr8:4229569-4229769	MCF10A-Er-Src	breast:	n/a	n/a
16	POLR2A	chr8:4236535-4236729	MCF10A-Er-Src	breast:	n/a	n/a
17	POLR2A	chr8:4238053-4238090	Gliobla	brain:	n/a	n/a
18	REST	chr8:4248089-4248183	GM12878	blood:	n/a	n/a
19	SPI1	chr8:4248935-4249351	HL-60	blood:	n/a	n/a
20	SRF	chr8:4248046-4248196	GM12878	blood:	n/a	n/a
21	STAT3	chr8:4231540-4231826	MCF10A-Er-Src	breast:	n/a	n/a
22	USF1	chr8:4248044-4248206	GM12878	blood:	n/a	n/a
23	USF1	chr8:4248081-4248191	GM12878	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:4238976-4239026	HRPEpiC	eye:	n/a
2	chr8:4238976-4239026	SK-N-MC	brain:	n/a
3	chr8:4238976-4239026	SKMC	muscle:	n/a
4	chr8:4238976-4239026	HAEpiC	amniotic membrane:	n/a
5	chr8:4238976-4239026	BE2_C	brain:	n/a
6	chr8:4238976-4239026	AG04449	skin:	fetal
7	chr8:4238976-4239026	HCF	heart:	n/a
8	chr8:4238976-4239026	Hela-S3	cervix:	n/a
9	chr8:4238976-4239026	HUVEC	blood vessel:	n/a
10	chr8:4238976-4239026	Jurkat	blood:	n/a
11	chr8:4238976-4239026	HCPEpiC	choroid plexus:	n/a
12	chr8:4238976-4239026	HEK293	kidney:	embryo
13	chr8:4238976-4239026	SK-N-SH_RA	brain:	n/a
14	chr8:4238976-4239026	SAEC	small airway:	n/a
15	chr8:4238976-4239026	NHBE	bronchial:	n/a
16	chr8:4238976-4239026	MCF10A-Er-Src	breast:	n/a
17	chr8:4238976-4239026	AG04450	lung:	fetal
18	chr8:4238976-4239026	PANC-1	pancreas:	n/a
19	chr8:4238976-4239026	LNCaP	prostate:	n/a
20	chr8:4238976-4239026	HL-60	blood:	n/a
21	chr8:4238976-4239026	GM12892	blood:	n/a
22	chr8:4238976-4239026	CMK	blood:	n/a
23	chr8:4238976-4239026	U87	brain:	n/a
24	chr8:4238976-4239026	HMEC	breast:	n/a
25	chr8:4238976-4239026	SK-N-SH	brain:	n/a
26	chr8:4238976-4239026	BJ	skin:	n/a
27	chr8:4238976-4239026	ECC-1	luminal epithelium:	n/a
28	chr8:4238976-4239026	NT2-D1	testis:	n/a
29	chr8:4238976-4239026	HIPEpiC	eye:	n/a
30	chr8:4238976-4239026	Caco-2	colon:	n/a
31	chr8:4238976-4239026	RPTEC	kidney:	n/a
32	chr8:4238976-4239026	T-47D	breast:	n/a
33	chr8:4238976-4239026	HEEpiC	esophagus:	n/a
34	chr8:4238976-4239026	AG09319	gingival:	n/a
35	chr8:4238976-4239026	PFSK-1	brain:	n/a
36	chr8:4238976-4239026	A549	lung:	n/a
37	chr8:4238976-4239026	AG09309	skin:	n/a
38	chr8:4238976-4239026	HCT-116	colon:	n/a
39	chr8:4238976-4239026	AoSMC	blood vessel:	n/a
40	chr8:4238976-4239026	NHDF-neo	bronchial:	n/a
41	chr8:4238976-4239026	NB4	blood:	n/a
42	chr8:4238976-4239026	GM12891	blood:	n/a
43	chr8:4238976-4239026	ProgFib	skin:	n/a
44	chr8:4238976-4239026	GM06990	blood:	n/a
45	chr8:4238976-4239026	MCF-7	breast:	n/a
46	chr8:4238976-4239026	HepG2	liver:	n/a
47	chr8:4238976-4239026	HRE	kidney:	n/a
48	chr8:4238976-4239026	AG10803	skin:	n/a
49	chr8:4238976-4239026	Hepatocyte	liver:	n/a
50	chr8:4238976-4239026	HNPCEpiC	eye:	n/a

No data

Variant related genes	Relation type
RN7SL872P	TF binding region
RN7SL872P	CpG island

Extended variants
information (count: 541 )
Associated
traits (count: 126 )

Variant overlapped rSNPs/rCNVs (count:541 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1367320	chr8:4229456-4229457	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs536393262	chr8:4229465-4229466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs577976747	chr8:4229476-4229477	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs1367319	chr8:4229511-4229512	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs1370731	chr8:4229522-4229523	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs533918829	chr8:4229532-4229533	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs367556146	chr8:4229545-4229546	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs145713991	chr8:4229551-4229552	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs577821157	chr8:4229562-4229563	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs545192894	chr8:4229566-4229567	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs548418948	chr8:4229570-4229571	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs1370730	chr8:4229573-4229574	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs376665902	chr8:4229578-4229579	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs79821450	chr8:4229582-4229583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs560946471	chr8:4229583-4229584	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs570118452	chr8:4229603-4229604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs562717451	chr8:4229613-4229614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs539808311	chr8:4229631-4229632	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs147388754	chr8:4229635-4229636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs532647398	chr8:4229642-4229643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs557348918	chr8:4229664-4229665	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs576529629	chr8:4229665-4229666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs185745107	chr8:4229668-4229669	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs530215190	chr8:4229698-4229699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs549197316	chr8:4229700-4229701	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs79149025	chr8:4229724-4229725	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs566823332	chr8:4229736-4229737	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs139238040	chr8:4229757-4229758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs563981049	chr8:4229759-4229760	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs558633690	chr8:4229761-4229762	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs570822431	chr8:4229766-4229767	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs538976349	chr8:4229771-4229772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs557279646	chr8:4229773-4229774	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs114283145	chr8:4229777-4229778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs76586264	chr8:4232825-4232826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs540042738	chr8:4232831-4232832	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs28593012	chr8:4232852-4232853	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs115374015	chr8:4232857-4232858	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs555557958	chr8:4232867-4232868	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs181175400	chr8:4232894-4232895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs78395945	chr8:4232895-4232896	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs553653098	chr8:4232917-4232918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs376716933	chr8:4232936-4232937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs73510643	chr8:4232937-4232938	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs184407961	chr8:4232939-4232940	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs561081078	chr8:4232943-4232944	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs117053609	chr8:4232949-4232950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs148139950	chr8:4232952-4232953	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs543522762	chr8:4232955-4232956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs189588554	chr8:4232957-4232958	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:126)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	16573809	CNVD
Myelofibrosis	22110671	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
abnormal development	18461090	CNVD
Crohn''s disease	19220326	CNVD
Psoriasis	19220326	CNVD
Prostate cancer	21965145	CNVD
Prostate cancer	18515986	CNVD
Chronic obstructive pulmonary disease	20378733	CNVD
Autism	18414403	CNVD
Cancer	21183584	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	17603634	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Ovarian cancer	20844748	CNVD
Cervical cancer	17311676	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Schizophrenia	20877625	CNVD
Disorders of sex development	21048976	CNVD
Colorectal cancer	16272173	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	17001317	CNVD
Thyroid cancer	19087340	CNVD
Multiple myeloma	16616336	CNVD
Hepatocellular carcinoma	22174799	CNVD
Heart disease	21282601	CNVD
T-cell lymphomas	19863542	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	21297112	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Breast cancer	17393978	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Breast cancer	20837533	CNVD
Squamous cell cancer	21044232	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	22429812	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21264507	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	21088497	CNVD
Breast cancer	20940404	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Gastric cancer	17167181	CNVD
Prostate cancer	16705090	CNVD
8p-syndrome	17576883	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Prostate cancer	17245344	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
Ductal carcinoma	22052326	CNVD
Breast cancer	21509527	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Epilepsy	22083797	CNVD
Acute myeloid leukemia	21251322	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Congenital diaphragmatic hernia	21064195	CNVD
Breast cancer	21364760	CNVD
Cancer	20164920	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Non-small cell lung cancer	21829676	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Prostate cancer	17217626	CNVD
Developmental delay	19128483	CNVD
Neuroticism	17667963	CNVD
Leukoplakia	24403051	CNVD
Intellectual disability	22045946	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16608533	CNVD
Seminomas	18059402	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16774939	CNVD
Colorectal cancer	21645411	CNVD
Colorectal cancer	22014273	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Chronic myeloid leukemia	21384125	CNVD
Tetralogy of Fallot	22912587	CNVD
Schizophrenia	21346763	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:4229200-4229800	Enhancers	Liver	Liver
2	chr8:4232800-4233000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr8:4233000-4233800	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr8:4235800-4236000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr8:4236000-4236200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr8:4236200-4238800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr8:4238800-4239200	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr8:4238800-4239200	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr8:4238800-4239400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr8:4238800-4239400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr8:4238800-4239400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr8:4239000-4239200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr8:4239000-4240000	Enhancers	H1 Cell Line	embryonic stem cell
14	chr8:4240400-4240600	Enhancers	Psoas Muscle	Psoas

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