Variant report

Variant	nsv891317
Chromosome Location	chr8:112550599-112649830
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:233)
CpG islands
(count:183)
Chromatin interactive
region (count:5)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:233 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr8:112576305-112577602	HepG2	liver:	n/a	n/a
2	BACH1	chr8:112565168-112565174	H1-hESC	embryonic stem cell:	n/a	n/a
3	BHLHE40	chr8:112576576-112576903	HepG2	liver:	n/a	n/a
4	CEBPB	chr8:112575228-112575538	HepG2	liver:	n/a	chr8:112575342-112575355 chr8:112575342-112575353 chr8:112575343-112575354 chr8:112575342-112575355
5	CEBPB	chr8:112576541-112576791	HepG2	liver:	n/a	n/a
6	CEBPB	chr8:112631993-112632244	HepG2	liver:	n/a	chr8:112632167-112632180
7	CEBPB	chr8:112589952-112590235	A549	lung:	n/a	chr8:112590133-112590146 chr8:112590111-112590122 chr8:112590110-112590123
8	CEBPB	chr8:112565892-112566140	HepG2	liver:	n/a	n/a
9	CEBPB	chr8:112576445-112576921	HepG2	liver:	n/a	n/a
10	CEBPB	chr8:112648825-112649214	HepG2	liver:	n/a	chr8:112649115-112649126 chr8:112649115-112649126
11	CEBPB	chr8:112603408-112603661	H1-hESC	embryonic stem cell:	n/a	chr8:112603525-112603536
12	CEBPB	chr8:112578688-112578901	A549	lung:	n/a	chr8:112578719-112578732
13	CEBPB	chr8:112603419-112603617	HepG2	liver:	n/a	chr8:112603525-112603536
14	CEBPB	chr8:112589943-112590245	HepG2	liver:	n/a	chr8:112590133-112590146 chr8:112590111-112590122 chr8:112590110-112590123
15	CEBPB	chr8:112618812-112619060	HepG2	liver:	n/a	chr8:112618953-112618964 chr8:112618955-112618964
16	CEBPB	chr8:112578664-112578920	HepG2	liver:	n/a	chr8:112578719-112578732
17	CHD2	chr8:112576694-112576873	HepG2	liver:	n/a	n/a
18	CTCF	chr8:112636240-112636390	HepG2	liver:	n/a	n/a
19	CTCF	chr8:112601706-112601740	GM13976	blood:	n/a	n/a
20	CTCF	chr8:112636237-112636326	MCF-7	breast:	n/a	n/a
21	CTCF	chr8:112625382-112625439	Pancreas_OC	pancreas:	n/a	n/a
22	CTCF	chr8:112637100-112637250	WERI-Rb-1	eye:	n/a	n/a
23	CTCF	chr8:112636180-112636330	MCF-7	breast:	n/a	n/a
24	CTCF	chr8:112636259-112636349	MCF-7	breast:	n/a	n/a
25	CTCF	chr8:112637136-112637227	HepG2	liver:	n/a	n/a
26	CTCF	chr8:112637109-112637245	MCF-7	breast:	n/a	n/a
27	CTCF	chr8:112637040-112637190	HEK293	kidney:	n/a	n/a
28	CTCF	chr8:112636205-112636329	HepG2	liver:	n/a	n/a
29	CTCF	chr8:112637161-112637213	MCF-7	breast:	n/a	n/a
30	CTCF	chr8:112636220-112636370	MCF-7	breast:	n/a	n/a
31	CTCF	chr8:112636198-112636256	MCF-7	breast:	n/a	n/a
32	CTCF	chr8:112636256-112636258	MCF-7	breast:	n/a	n/a
33	CTCF	chr8:112636215-112636372	HepG2	liver:	n/a	n/a
34	CTCF	chr8:112637080-112637230	HepG2	liver:	n/a	n/a
35	CTCF	chr8:112637071-112637273	H1-hESC	embryonic stem cell:	n/a	n/a
36	CTCF	chr8:112637016-112637365	H1-hESC	embryonic stem cell:	n/a	n/a
37	CTCF	chr8:112637220-112637370	MCF-7	breast:	n/a	n/a
38	E2F4	chr8:112627169-112627492	MCF10A-Er-Src	breast:	n/a	n/a
39	E2F4	chr8:112619113-112619431	MCF10A-Er-Src	breast:	n/a	n/a
40	E2F4	chr8:112574394-112574488	MCF10A-Er-Src	breast:	n/a	n/a
41	E2F4	chr8:112582837-112582975	MCF10A-Er-Src	breast:	n/a	n/a
42	EP300	chr8:112576328-112576954	HepG2	liver:	n/a	n/a
43	EP300	chr8:112577305-112577622	HepG2	liver:	n/a	chr8:112577345-112577359
44	EP300	chr8:112576507-112576906	HepG2	liver:	n/a	n/a
45	EP300	chr8:112633248-112633276	GM12878	blood:	n/a	n/a
46	EP300	chr8:112576403-112576872	HepG2	liver:	n/a	n/a
47	FAM48A	chr8:112583612-112583734	GM12878	blood:	n/a	n/a
48	FAM48A	chr8:112565663-112565799	GM12878	blood:	n/a	n/a
49	FOXA1	chr8:112576965-112577430	HepG2	liver:	n/a	n/a
50	FOXA1	chr8:112576419-112576901	HepG2	liver:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:112636625-112636675	Hepatocyte	liver:	n/a
2	chr8:112636613-112636663	HL-60	blood:	n/a
3	chr8:112636613-112636663	HMEC	breast:	n/a
4	chr8:112612368-112612418	A549	lung:	n/a
5	chr8:112612368-112612418	T-47D	breast:	n/a
6	chr8:112636613-112636663	HCT-116	colon:	n/a
7	chr8:112636625-112636675	HAEpiC	amniotic membrane:	n/a
8	chr8:112636625-112636675	BJ	skin:	n/a
9	chr8:112612368-112612418	Caco-2	colon:	n/a
10	chr8:112612368-112612418	Jurkat	blood:	n/a
11	chr8:112636613-112636663	HRCEpiC	kidney:	n/a
12	chr8:112612368-112612418	AG04449	skin:	fetal
13	chr8:112636625-112636675	GM06990	blood:	n/a
14	chr8:112612368-112612418	GM06990	blood:	n/a
15	chr8:112636613-112636663	BJ	skin:	n/a
16	chr8:112636625-112636675	HPAEpiC	pulmonary alveolar:	n/a
17	chr8:112612368-112612418	PANC-1	pancreas:	n/a
18	chr8:112636613-112636663	RPTEC	kidney:	n/a
19	chr8:112636625-112636675	SKMC	muscle:	n/a
20	chr8:112636625-112636675	ECC-1	luminal epithelium:	n/a
21	chr8:112636625-112636675	SK-N-SH_RA	brain:	n/a
22	chr8:112636613-112636663	GM06990	blood:	n/a
23	chr8:112636613-112636663	HIPEpiC	eye:	n/a
24	chr8:112636613-112636663	GM12891	blood:	n/a
25	chr8:112636613-112636663	Jurkat	blood:	n/a
26	chr8:112612368-112612418	Hela-S3	cervix:	n/a
27	chr8:112612368-112612418	ECC-1	luminal epithelium:	n/a
28	chr8:112636625-112636675	Caco-2	colon:	n/a
29	chr8:112612368-112612418	AG10803	skin:	n/a
30	chr8:112636613-112636663	GM12892	blood:	n/a
31	chr8:112612368-112612418	IMR90	lung:	fetal
32	chr8:112612368-112612418	SK-N-MC	brain:	n/a
33	chr8:112636613-112636663	AG09309	skin:	n/a
34	chr8:112612368-112612418	RPTEC	kidney:	n/a
35	chr8:112636613-112636663	U87	brain:	n/a
36	chr8:112636625-112636675	NHBE	bronchial:	n/a
37	chr8:112612368-112612418	HPAEpiC	pulmonary alveolar:	n/a
38	chr8:112636625-112636675	GM12878	blood:	n/a
39	chr8:112612368-112612418	SK-N-SH_RA	brain:	n/a
40	chr8:112612368-112612418	LNCaP	prostate:	n/a
41	chr8:112636625-112636675	HL-60	blood:	n/a
42	chr8:112612368-112612418	HCF	heart:	n/a
43	chr8:112636625-112636675	H1-hESC	embryonic stem cell:	embryo
44	chr8:112612368-112612418	ProgFib	skin:	n/a
45	chr8:112636613-112636663	HepG2	liver:	n/a
46	chr8:112612368-112612418	HEEpiC	esophagus:	n/a
47	chr8:112636613-112636663	HNPCEpiC	eye:	n/a
48	chr8:112636625-112636675	MCF-7	breast:	n/a
49	chr8:112636625-112636675	GM19239	blood:	n/a
50	chr8:112636625-112636675	HCT-116	colon:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr8:112561052..112562682-chr8:112563214..112564772,2	MCF-7	breast:
2	chr8:112622384..112625093-chr8:112625173..112626907,2	MCF-7	breast:
3	chr8:112622384..112625093-chr8:112625173..112626907,2	MCF-7	breast:
4	chr8:112570236..112571107-chr8:139584283..139585016,2	MCF-7	breast:
5	chr8:112561052..112562682-chr8:112563214..112564772,2	MCF-7	breast:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CSMD3-4	chr8:112633687-112634026	NONHSAT128329
2	lnc-RP11-422N16.3.1-4	chr8:112555148-112555202	ENSG00000253434.1
3	lnc-RP11-422N16.3.1-4	chr8:112554278-112554452	ENSG00000253434.1

No data

Variant related genes	Relation type
ENSG00000253156	TF binding region
ENSG00000253156	CpG island

Extended variants
information (count: 934 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:934 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1115957	chr8:112551426-112551427	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs186677434	chr8:112551488-112551489	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs73327934	chr8:112551495-112551496	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs192406077	chr8:112551507-112551508	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs549171370	chr8:112551573-112551574	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs368333791	chr8:112551581-112551582	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs578254199	chr8:112551592-112551593	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs566233860	chr8:112551601-112551602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs538515398	chr8:112551702-112551703	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs540949459	chr8:112551765-112551766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs182203641	chr8:112551797-112551798	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs571181161	chr8:112551824-112551825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs186117779	chr8:112551827-112551828	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs189743803	chr8:112551829-112551830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs62520417	chr8:112551831-112551832	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs145649693	chr8:112551855-112551856	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs10087264	chr8:112551872-112551873	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs114220853	chr8:112551886-112551887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs367817704	chr8:112551890-112551891	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs10087560	chr8:112551894-112551895	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs147311526	chr8:112551901-112551902	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs542812411	chr8:112551927-112551928	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs565183797	chr8:112551986-112551987	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs562244857	chr8:112551998-112551999	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs183929377	chr8:112552811-112552812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs7006444	chr8:112552812-112552813	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs7006161	chr8:112552816-112552817	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs562705073	chr8:112552817-112552818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs537779995	chr8:112552836-112552837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs2606205	chr8:112552852-112552853	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs187709415	chr8:112552892-112552893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs542997599	chr8:112552906-112552907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs150298056	chr8:112552964-112552965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs368877404	chr8:112552965-112552966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs535965353	chr8:112552967-112552968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs553050263	chr8:112553000-112553001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs148526284	chr8:112553008-112553009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs545143374	chr8:112553028-112553029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs557025348	chr8:112553041-112553042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs71526794	chr8:112553086-112553087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs7010351	chr8:112553100-112553101	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs191612961	chr8:112553110-112553111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs73704570	chr8:112553111-112553112	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs7010597	chr8:112553113-112553114	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs183759400	chr8:112553162-112553163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs6992650	chr8:112553167-112553168	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs7010371	chr8:112553186-112553187	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs188799822	chr8:112553293-112553294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs73704571	chr8:112553296-112553297	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs1966587	chr8:112553385-112553386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

Disease	PMID	Source
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Gastric cancer	17908304	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Testicular cancer	18059402	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
abnormal development	18461090	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	16751803	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Non-small cell lung cancer	19010865	CNVD
small cell lung cancer	20016488	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21364760	CNVD
Neuroticism	17667963	CNVD
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:112551400-112552000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr8:112552800-112557800	Weak transcription	Adipose Nuclei	Adipose
3	chr8:112557200-112558800	Enhancers	Fetal Lung	lung
4	chr8:112557800-112558400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr8:112557800-112558600	Strong transcription	Adipose Nuclei	Adipose
6	chr8:112558600-112560200	Weak transcription	Adipose Nuclei	Adipose
7	chr8:112575200-112577600	Enhancers	Liver	Liver
8	chr8:112575800-112578400	Enhancers	HepG2	liver
9	chr8:112578200-112578400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr8:112593600-112593800	Enhancers	Pancreas	Pancrea
11	chr8:112597000-112598400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr8:112611000-112611800	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr8:112611400-112612000	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr8:112611600-112611800	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr8:112611600-112612200	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr8:112611800-112612000	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr8:112611800-112612800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
18	chr8:112615400-112615800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr8:112623600-112624000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr8:112623800-112624200	ZNF genes & repeats	Spleen	Spleen
21	chr8:112624000-112624200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr8:112624000-112624200	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
23	chr8:112624000-112627600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr8:112624200-112633800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr8:112627200-112628000	Enhancers	Brain Germinal Matrix	brain
26	chr8:112627600-112628200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr8:112633800-112634000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr8:112633800-112634000	Bivalent Enhancer	Aorta	Aorta

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