Variant report

Variant	nsv470224
Chromosome Location	chr8:87789332-87806604
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:348)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:348 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr8:87804308-87804349	HepG2	liver:	n/a	n/a
2	BHLHE40	chr8:87797430-87797729	GM12878	blood:	n/a	n/a
3	BRCA1	chr8:87797608-87797614	HepG2	liver:	n/a	n/a
4	CBX3	chr8:87804103-87804568	HCT-116	colon:	n/a	n/a
5	CEBPB	chr8:87803351-87803611	HepG2	liver:	n/a	chr8:87803445-87803456
6	CHD1	chr8:87797478-87797782	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTCF	chr8:87797540-87797690	HPAF	blood vessel:	n/a	n/a
8	CTCF	chr8:87797540-87797690	HepG2	liver:	n/a	n/a
9	CTCF	chr8:87797215-87797930	A549	lung:	n/a	n/a
10	CTCF	chr8:87804165-87804364	SK-N-SH_RA	brain:	n/a	n/a
11	CTCF	chr8:87797406-87797753	H1-hESC	embryonic stem cell:	n/a	n/a
12	CTCF	chr8:87797520-87797670	NHLF	lung:	n/a	n/a
13	CTCF	chr8:87804260-87804410	MCF-7	breast:	n/a	n/a
14	CTCF	chr8:87797540-87797690	HBMEC	blood vessel:	n/a	n/a
15	CTCF	chr8:87804260-87804410	A549	lung:	n/a	n/a
16	CTCF	chr8:87804280-87804430	GM12873	blood:	n/a	n/a
17	CTCF	chr8:87797420-87797570	A549	lung:	n/a	n/a
18	CTCF	chr8:87797540-87797690	GM12864	blood:	n/a	n/a
19	CTCF	chr8:87804240-87804390	GM12874	blood:	n/a	n/a
20	CTCF	chr8:87797500-87797650	NHEK	skin:	n/a	n/a
21	CTCF	chr8:87804180-87804330	GM12864	blood:	n/a	n/a
22	CTCF	chr8:87797506-87797731	GM13977	blood:	n/a	n/a
23	CTCF	chr8:87804180-87804330	HBMEC	blood vessel:	n/a	n/a
24	CTCF	chr8:87804180-87804330	HepG2	liver:	n/a	n/a
25	CTCF	chr8:87804220-87804370	HRPEpiC	eye:	n/a	n/a
26	CTCF	chr8:87797560-87797710	GM12873	blood:	n/a	n/a
27	CTCF	chr8:87797500-87797650	AoAF	blood vessel:	n/a	n/a
28	CTCF	chr8:87797540-87797690	GM12867	blood:	n/a	n/a
29	CTCF	chr8:87804220-87804370	HRE	kidney:	n/a	n/a
30	CTCF	chr8:87797520-87797670	HUVEC	blood vessel:	n/a	n/a
31	CTCF	chr8:87797485-87797713	Pancreas_OC	pancreas:	n/a	n/a
32	CTCF	chr8:87797500-87797650	HMF	breast:	n/a	n/a
33	CTCF	chr8:87804180-87804410	K562	blood:	n/a	n/a
34	CTCF	chr8:87797540-87797690	AG09319	gingival:	n/a	n/a
35	CTCF	chr8:87797560-87797710	BJ	skin:	n/a	n/a
36	CTCF	chr8:87797500-87797650	GM12864	blood:	n/a	n/a
37	CTCF	chr8:87797560-87797710	K562	blood:	n/a	n/a
38	CTCF	chr8:87797520-87797670	GM12872	blood:	n/a	n/a
39	CTCF	chr8:87804200-87804350	HPF	lung:	n/a	n/a
40	CTCF	chr8:87797529-87797718	Kidney_OC	kidney:	n/a	n/a
41	CTCF	chr8:87804072-87804450	T-47D	breast:	n/a	n/a
42	CTCF	chr8:87797416-87797786	HepG2	liver:	n/a	n/a
43	CTCF	chr8:87797717-87797718	HepG2	liver:	n/a	n/a
44	CTCF	chr8:87804120-87804270	HFF-Myc	foreskin:	n/a	n/a
45	CTCF	chr8:87804240-87804390	SK-N-SH_RA	brain:	n/a	n/a
46	CTCF	chr8:87797520-87797710	GM10266	blood:	n/a	n/a
47	CTCF	chr8:87797493-87797703	SK-N-SH_RA	brain:	n/a	n/a
48	CTCF	chr8:87804180-87804330	HEK293	kidney:	n/a	n/a
49	CTCF	chr8:87797520-87797670	HEEpiC	esophagus:	n/a	n/a
50	CTCF	chr8:87804242-87804351	LNCaP	prostate:	n/a	n/a

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:87630810..87631890-chr8:87797141..87798191,5	MCF-7	breast:
2	chr8:87715130..87716346-chr8:87797049..87798098,25	MCF-7	breast:
3	chr8:87715050..87716703-chr8:87803465..87805909,2	MCF-7	breast:
4	chr8:87717437..87718015-chr8:87797121..87797669,2	MCF-7	breast:
5	chr8:87715318..87716419-chr8:87803806..87804632,5	MCF-7	breast:
6	chr8:87712105..87713974-chr8:87796299..87798586,2	MCF-7	breast:
7	chr8:87630929..87631959-chr8:87803770..87804800,6	MCF-7	breast:
8	chr8:87630929..87631888-chr8:87803716..87804745,5	MCF-7	breast:
9	chr8:87715109..87716653-chr8:87797088..87798149,7	MCF-7	breast:
10	chr8:87715640..87716182-chr8:87795719..87796695,2	MCF-7	breast:
11	chr8:87782002..87784386-chr8:87789297..87791197,2	MCF-7	breast:
12	chr8:87630564..87632834-chr8:87796838..87798814,12	MCF-7	breast:
13	chr8:87715306..87716350-chr8:87803816..87804906,11	MCF-7	breast:
14	chr8:87715699..87716286-chr8:87798755..87799414,2	MCF-7	breast:
15	chr8:87570118..87570921-chr8:87797165..87798074,5	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CNBD1-1	chr8:87796101-87796208	ENSG00000253778

No data

Variant related genes	Relation type
ENSG00000253568	TF binding region

Extended variants
information (count: 89 )
Associated
traits (count: 111 )

Variant overlapped rSNPs/rCNVs (count:89 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570666592	chr8:87789419-87789420	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs77188269	chr8:87789425-87789426	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs553013109	chr8:87789477-87789478	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs142163830	chr8:87789521-87789522	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs368921287	chr8:87789547-87789548	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs371384022	chr8:87789563-87789564	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs557365954	chr8:87789577-87789578	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs530539768	chr8:87790527-87790528	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs189841131	chr8:87790885-87790886	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs566619717	chr8:87790911-87790912	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs534352925	chr8:87790987-87790988	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs181574019	chr8:87791055-87791056	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs555465205	chr8:87791069-87791070	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs543859213	chr8:87793089-87793090	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs557117925	chr8:87795418-87795419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs575461463	chr8:87795455-87795456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs546010451	chr8:87795458-87795459	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs192861586	chr8:87795469-87795470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs1902868	chr8:87795477-87795478	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs57094023	chr8:87795525-87795526	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs568431885	chr8:87795552-87795553	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs538813665	chr8:87795589-87795590	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs13274836	chr8:87795603-87795604	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs7841276	chr8:87795613-87795614	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs569842909	chr8:87795619-87795620	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs530694249	chr8:87795640-87795641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs28635208	chr8:87795651-87795652	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs570610735	chr8:87795676-87795677	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs113411229	chr8:87795677-87795678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs553084931	chr8:87795739-87795740	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs13275197	chr8:87795746-87795747	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs535533830	chr8:87795760-87795761	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs543846417	chr8:87795774-87795775	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs531050739	chr8:87795778-87795779	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs28689187	chr8:87795779-87795780	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs545949628	chr8:87795785-87795786	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs558333882	chr8:87795789-87795790	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs76593054	chr8:87795796-87795797	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs188739440	chr8:87795818-87795819	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs377701838	chr8:87795863-87795864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs577276832	chr8:87795881-87795882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs529740879	chr8:87795887-87795888	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs138876230	chr8:87795902-87795903	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs563335640	chr8:87795918-87795919	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs190107725	chr8:87797284-87797285	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs529153700	chr8:87797330-87797331	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs550558797	chr8:87797356-87797357	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs370733848	chr8:87797359-87797360	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs397893150	chr8:87797376-87797377	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs377156773	chr8:87797389-87797390	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:111)

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
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
Cutaneous T-cell lymphoma	21881587	CNVD
Colorectal cancer	21645411	CNVD
Prostate cancer	20978177	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Renal cell carcinoma	21215367	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:87795400-87796200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr8:87797200-87797400	Enhancers	Muscle Satellite Cultured Cells	--
3	chr8:87797400-87798000	Enhancers	Colon Smooth Muscle	Colon
4	chr8:87797400-87798200	Enhancers	Rectal Smooth Muscle	rectum
5	chr8:87797600-87798000	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr8:87797600-87798000	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr8:87797600-87798000	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr8:87797600-87798000	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr8:87797600-87798000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr8:87797600-87798000	Enhancers	Brain Anterior Caudate	brain
11	chr8:87797600-87798200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr8:87797600-87798400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr8:87797800-87798200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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