Variant report

Variant	nsv981962
Chromosome Location	chr8:87054048-87056468
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	ARID3A	chr8:87056356-87056684	K562	blood:	n/a	n/a
2	ARID3A	chr8:87056306-87056697	HepG2	liver:	n/a	n/a
3	CTCF	chr8:87056381-87056604	Lung_OC	lung:	n/a	chr8:87056491-87056512
4	CTCF	chr8:87056389-87056590	LNCaP	prostate:	n/a	chr8:87056491-87056512
5	CTCF	chr8:87056340-87056490	HFF-Myc	foreskin:	n/a	n/a
6	CTCF	chr8:87056440-87056590	WERI-Rb-1	eye:	n/a	chr8:87056491-87056512
7	CTCF	chr8:87056400-87056550	HEEpiC	esophagus:	n/a	chr8:87056491-87056512
8	CTCF	chr8:87056272-87056711	A549	lung:	n/a	chr8:87056491-87056512
9	CTCF	chr8:87056420-87056570	HA-sp	spinal cord:	n/a	chr8:87056491-87056512
10	CTCF	chr8:87056440-87056590	GM06990	blood:	n/a	chr8:87056491-87056512
11	CTCF	chr8:87056368-87056630	HUVEC	blood vessel:	n/a	chr8:87056491-87056512
12	CTCF	chr8:87056420-87056570	GM12865	blood:	n/a	chr8:87056491-87056512
13	CTCF	chr8:87056400-87056550	GM12869	blood:	n/a	chr8:87056491-87056512
14	CTCF	chr8:87056400-87056550	BE2_C	brain:	n/a	chr8:87056491-87056512
15	CTCF	chr8:87056398-87056599	K562	blood:	n/a	chr8:87056491-87056512
16	CTCF	chr8:87056297-87056685	K562	blood:	n/a	chr8:87056491-87056512
17	CTCF	chr8:87056300-87056450	MCF-7	breast:	n/a	n/a
18	CTCF	chr8:87056220-87056370	GM12865	blood:	n/a	n/a
19	CTCF	chr8:87056400-87056550	AG09309	skin:	n/a	chr8:87056491-87056512
20	CTCF	chr8:87056380-87056530	HL-60	blood:	n/a	chr8:87056491-87056512
21	CTCF	chr8:87056420-87056570	SK-N-SH_RA	brain:	n/a	chr8:87056491-87056512
22	CTCF	chr8:87056340-87056490	HCM	heart:	n/a	n/a
23	CTCF	chr8:87056307-87056678	GM12878	blood:	n/a	chr8:87056491-87056512
24	CTCF	chr8:87056420-87056570	HPAF	blood vessel:	n/a	chr8:87056491-87056512
25	CTCF	chr8:87056420-87056570	HCT-116	colon:	n/a	chr8:87056491-87056512
26	CTCF	chr8:87056160-87056310	GM12875	blood:	n/a	n/a
27	CTCF	chr8:87056120-87056270	GM12872	blood:	n/a	n/a
28	CTCF	chr8:87056440-87056590	BJ	skin:	n/a	chr8:87056491-87056512
29	CTCF	chr8:87056360-87056510	HRPEpiC	eye:	n/a	n/a
30	CTCF	chr8:87056353-87056673	IMR90	lung:	n/a	chr8:87056491-87056512
31	CTCF	chr8:87056440-87056590	HRE	kidney:	n/a	chr8:87056491-87056512
32	CTCF	chr8:87056380-87056530	GM12866	blood:	n/a	chr8:87056491-87056512
33	CTCF	chr8:87056420-87056570	K562	blood:	n/a	chr8:87056491-87056512
34	CTCF	chr8:87056400-87056550	SK-N-SH_RA	brain:	n/a	chr8:87056491-87056512
35	CTCF	chr8:87056100-87056250	NHEK	skin:	n/a	n/a
36	CTCF	chr8:87056380-87056530	GM12865	blood:	n/a	chr8:87056491-87056512
37	CTCF	chr8:87056400-87056550	AG04449	skin:	n/a	chr8:87056491-87056512
38	CTCF	chr8:87056440-87056590	HCFaa	heart:	n/a	chr8:87056491-87056512
39	CTCF	chr8:87056460-87056610	AG10803	skin:	n/a	chr8:87056491-87056512
40	CTCF	chr8:87056440-87056590	Caco-2	colon:	n/a	chr8:87056491-87056512
41	CTCF	chr8:87056380-87056530	AG09319	gingival:	n/a	chr8:87056491-87056512
42	CTCF	chr8:87056200-87056350	GM06990	blood:	n/a	n/a
43	CTCF	chr8:87056360-87056653	T-47D	breast:	n/a	chr8:87056491-87056512
44	CTCF	chr8:87056400-87056550	AoAF	blood vessel:	n/a	chr8:87056491-87056512
45	CTCF	chr8:87056440-87056590	HMF	breast:	n/a	chr8:87056491-87056512
46	CTCF	chr8:87056398-87056609	Hela-S3	cervix:	n/a	chr8:87056491-87056512
47	CTCF	chr8:87056400-87056550	HRPEpiC	eye:	n/a	chr8:87056491-87056512
48	CTCF	chr8:87056140-87056290	BE2_C	brain:	n/a	n/a
49	CTCF	chr8:87056420-87056570	GM12871	blood:	n/a	chr8:87056491-87056512
50	CTCF	chr8:87056420-87056570	GM12875	blood:	n/a	chr8:87056491-87056512

No.	Distal block	Cell Line	Cell type
1	chr8:87056024..87056973-chr8:87100557..87101385,2	K562	blood:
2	chr8:87056401..87057090-chr8:87096628..87097321,3	MCF-7	breast:
3	chr8:87055966..87056962-chr8:87100044..87101445,9	MCF-7	breast:
4	chr8:86209797..86210360-chr8:87056059..87056917,2	MCF-7	breast:
5	chr8:87052074..87053673-chr8:87055718..87057613,2	MCF-7	breast:
6	chr19:50379639..50381627-chr8:87054439..87056717,2	MCF-7	breast:
7	chr8:87056127..87056766-chr8:87621088..87621865,2	MCF-7	breast:
8	chr8:87055996..87056980-chr8:87100447..87101085,4	MCF-7	breast:
9	chr8:87055990..87056989-chr8:87096316..87097709,4	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-WWP1-3	chr8:87055331-87055736	NONHSAT127545

Variant related genes	Relation type
ENSG00000243761	TF binding region
ENSG00000104946	chromatin interactions
ENSG00000147613	chromatin interactions
ENSG00000204673	chromatin interactions

Extended variants
information (count: 105 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:105 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs143346601	chr8:87054077-87054078	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs537079982	chr8:87054093-87054094	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs568181850	chr8:87054135-87054136	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs190708475	chr8:87054142-87054143	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs534649169	chr8:87054160-87054161	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs557647422	chr8:87054161-87054162	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs571453895	chr8:87054211-87054212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs536868540	chr8:87054218-87054219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs11787296	chr8:87054228-87054229	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs148312095	chr8:87054246-87054247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs553050634	chr8:87054330-87054331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs572754326	chr8:87054338-87054339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs181987901	chr8:87054357-87054358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs12550706	chr8:87054398-87054399	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs186368993	chr8:87054458-87054459	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs559335808	chr8:87054480-87054481	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs113901598	chr8:87054511-87054512	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs533301417	chr8:87054564-87054565	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs190777014	chr8:87054565-87054566	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs181574841	chr8:87054568-87054569	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs565766166	chr8:87054615-87054616	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs528354969	chr8:87054620-87054621	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs138328256	chr8:87054627-87054628	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs185878975	chr8:87054637-87054638	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs573773293	chr8:87054638-87054639	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs80342878	chr8:87054640-87054641	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs550541188	chr8:87054648-87054649	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs4961040	chr8:87054681-87054682	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs143711515	chr8:87054683-87054684	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs111616841	chr8:87054685-87054686	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs139840841	chr8:87054711-87054712	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs374341808	chr8:87054757-87054758	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs147212150	chr8:87054790-87054791	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs138656215	chr8:87054844-87054845	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs75959651	chr8:87054847-87054848	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs561079412	chr8:87054862-87054863	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs531671072	chr8:87054865-87054866	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs543988185	chr8:87054867-87054868	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs563589231	chr8:87054884-87054885	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs7815046	chr8:87054885-87054886	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs542747929	chr8:87054892-87054893	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs10088417	chr8:87054927-87054928	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs528460415	chr8:87054972-87054973	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs79850234	chr8:87054983-87054984	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs565175598	chr8:87055060-87055061	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs13269799	chr8:87055067-87055068	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs190983487	chr8:87055071-87055072	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs532364175	chr8:87055079-87055080	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs548073167	chr8:87055080-87055081	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs182886235	chr8:87055146-87055147	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:106)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
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
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	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
Esophageal cancer	20955586	CNVD
Multiple myeloma	16461302	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
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
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute myeloid leukemia	21358987	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
Acute lymphoblastic leukemia	18458336	CNVD
small cell lung cancer	20016488	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
Bladder cancer	19088036	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
Epilepsy	20502679	CNVD
Autism	20841430	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	20409316	CNVD
Acute myeloid leukemia	19651601	CNVD
head and neck squamous cell carcinoma	19451471	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:87048800-87057400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:87052000-87056600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr8:87052200-87056600	Weak transcription	Fetal Lung	lung
4	chr8:87052200-87057000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:87052400-87056600	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr8:87052400-87056600	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr8:87052400-87056800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr8:87052400-87057000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr8:87052400-87070400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr8:87054000-87054200	Enhancers	Rectal Smooth Muscle	rectum
11	chr8:87055200-87055800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr8:87055800-87057000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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