Variant report

Variant	esv3421887
Chromosome Location	chr8:39103844-39132832
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:242)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:242 , 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	CEBPB	chr8:39122247-39122648	Hela-S3	cervix:	n/a	n/a
2	CTCF	chr8:39130507-39130665	SK-N-SH_RA	brain:	n/a	n/a
3	CTCF	chr8:39130500-39130650	HRE	kidney:	n/a	n/a
4	CTCF	chr8:39130640-39130790	HVMF	connective:	n/a	n/a
5	CTCF	chr8:39130540-39130690	GM06990	blood:	n/a	n/a
6	CTCF	chr8:39130560-39130710	HAc	cerebellar:	n/a	n/a
7	CTCF	chr8:39130560-39130710	HA-sp	spinal cord:	n/a	n/a
8	CTCF	chr8:39130500-39130650	HPF	lung:	n/a	n/a
9	CTCF	chr8:39130540-39130690	GM12871	blood:	n/a	n/a
10	CTCF	chr8:39130500-39130650	AG09309	skin:	n/a	n/a
11	CTCF	chr8:39130520-39130670	AG10803	skin:	n/a	n/a
12	CTCF	chr8:39130540-39130690	HMEC	breast:	n/a	n/a
13	CTCF	chr8:39130560-39130710	GM12866	blood:	n/a	n/a
14	CTCF	chr8:39130533-39130655	GM19239	blood:	n/a	n/a
15	CTCF	chr8:39126560-39126710	GM12866	blood:	n/a	n/a
16	CTCF	chr8:39130532-39130681	ProgFib	skin:	n/a	n/a
17	CTCF	chr8:39130580-39130730	WERI-Rb-1	eye:	n/a	n/a
18	CTCF	chr8:39130560-39130710	HUVEC	blood vessel:	n/a	n/a
19	CTCF	chr8:39130560-39130710	HPF	lung:	n/a	n/a
20	CTCF	chr8:39130523-39130715	LNCaP	prostate:	n/a	n/a
21	CTCF	chr8:39130520-39130670	HFF-Myc	foreskin:	n/a	n/a
22	CTCF	chr8:39130580-39130697	GM13976	blood:	n/a	n/a
23	CTCF	chr8:39130540-39130690	HRPEpiC	eye:	n/a	n/a
24	CTCF	chr8:39130580-39130730	SK-N-SH_RA	brain:	n/a	n/a
25	CTCF	chr8:39130464-39130716	SK-N-SH_RA	brain:	n/a	n/a
26	CTCF	chr8:39130540-39130687	Medullo	brain:	n/a	n/a
27	CTCF	chr8:39130540-39130690	A549	lung:	n/a	n/a
28	CTCF	chr8:39130560-39130710	RPTEC	kidney:	n/a	n/a
29	CTCF	chr8:39130560-39130710	HRPEpiC	eye:	n/a	n/a
30	CTCF	chr8:39130560-39130710	K562	blood:	n/a	n/a
31	CTCF	chr8:39130520-39130670	AG04450	lung:	n/a	n/a
32	CTCF	chr8:39130500-39130650	GM12868	blood:	n/a	n/a
33	CTCF	chr8:39130509-39130735	HUVEC	blood vessel:	n/a	n/a
34	CTCF	chr8:39130542-39130734	GM12878	blood:	n/a	n/a
35	CTCF	chr8:39130569-39130708	GM10248	blood:	n/a	n/a
36	CTCF	chr8:39130552-39130707	GM10266	blood:	n/a	n/a
37	CTCF	chr8:39130438-39130819	GM12878	blood:	n/a	n/a
38	CTCF	chr8:39130451-39130721	A549	lung:	n/a	n/a
39	CTCF	chr8:39130520-39130670	SAEC	small airway:	n/a	n/a
40	CTCF	chr8:39130528-39130684	GM19240	blood:	n/a	n/a
41	CTCF	chr8:39130580-39130730	AG09319	gingival:	n/a	n/a
42	CTCF	chr8:39130480-39130750	A549	lung:	n/a	n/a
43	CTCF	chr8:39130480-39130630	HepG2	liver:	n/a	n/a
44	CTCF	chr8:39130520-39130670	HEEpiC	esophagus:	n/a	n/a
45	CTCF	chr8:39130489-39130794	A549	lung:	n/a	n/a
46	CTCF	chr8:39130580-39130730	HEEpiC	esophagus:	n/a	n/a
47	CTCF	chr8:39130580-39130730	MCF-7	breast:	n/a	n/a
48	CTCF	chr8:39125249-39125309	GM20000	blood:	n/a	n/a
49	CTCF	chr8:39130452-39130813	K562	blood:	n/a	n/a
50	CTCF	chr8:39130507-39130708	NHEK	skin:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr8:39107586..39109155-chr8:39112907..39115245,2	K562	blood:
2	chr8:39107586..39109155-chr8:39112907..39115245,2	K562	blood:
3	chr8:38964712..38965432-chr8:39130166..39131088,2	MCF-7	breast:
4	chr8:39130457..39132494-chr8:39133684..39136395,2	K562	blood:
5	chr8:38964583..38965453-chr8:39130431..39131111,2	MCF-7	breast:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ADAM9-1	chr8:39114706-39114862	NONHSAT126143
2	lnc-ADAM9-1	chr8:39111933-39112035	NONHSAT126143
3	lnc-ADAM9-1	chr8:39131831-39131869	NONHSAT126144
4	lnc-ADAM9-1	chr8:39131831-39131869	NONHSAT126145
5	lnc-ADAM9-1	chr8:39128394-39128433	NONHSAT126144
6	lnc-ADAM9-1	chr8:39128395-39128433	NONHSAT126145

No data

Variant related genes	Relation type
ADAM32	TF binding region
ENSG00000197140	chromatin interactions

Extended variants
information (count: 934 )
Associated
traits (count: 104 )

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	rs60402210	chr8:39103862-39103863	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs574375784	chr8:39103888-39103889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs7836976	chr8:39103909-39103910	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs556604389	chr8:39103913-39103914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs576536651	chr8:39103926-39103927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs138420229	chr8:39103932-39103933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs559329703	chr8:39103963-39103964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs530653519	chr8:39104013-39104014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs74303313	chr8:39104113-39104114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs541789054	chr8:39104121-39104122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs562039996	chr8:39104173-39104174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs372144601	chr8:39104178-39104179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs530896043	chr8:39104310-39104311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs117885898	chr8:39104323-39104324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs564525242	chr8:39104406-39104407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs10104527	chr8:39104409-39104410	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs533298782	chr8:39104414-39104415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs547162601	chr8:39104495-39104496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs566989534	chr8:39104521-39104522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs187005244	chr8:39104530-39104531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs535632623	chr8:39104553-39104554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs529511763	chr8:39104612-39104613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs569223906	chr8:39104618-39104619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs149621027	chr8:39104658-39104659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs369718611	chr8:39104668-39104669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs115889728	chr8:39104693-39104694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs77068606	chr8:39104739-39104740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs191831569	chr8:39104762-39104763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs200423946	chr8:39104763-39104764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs184281618	chr8:39104895-39104896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs187474884	chr8:39104988-39104989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs555335387	chr8:39104991-39104992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs75462478	chr8:39105007-39105008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs544614222	chr8:39105026-39105027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs375076664	chr8:39105073-39105074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs533450347	chr8:39105152-39105153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs530780312	chr8:39105204-39105205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs375856036	chr8:39105208-39105209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs540402202	chr8:39105239-39105240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs562351292	chr8:39105298-39105299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs34655354	chr8:39105311-39105312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs199538153	chr8:39105312-39105313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs560655594	chr8:39105395-39105396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs148274969	chr8:39105415-39105416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs78193529	chr8:39105424-39105425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs62504807	chr8:39105426-39105427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs549562737	chr8:39105427-39105428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs569157620	chr8:39105429-39105430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs185554636	chr8:39105443-39105444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs190650633	chr8:39105444-39105445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

Disease	PMID	Source
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Medulloblastoma	21979893	CNVD
Prostate cancer	16573809	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
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	21088497	CNVD
Prostate cancer	21965145	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
Colorectal cancer	16272173	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
Melanoma	18172304	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
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Lung cancer	18438408	CNVD
Myxofibrosarcoma	16751306	CNVD
Immune disease	21572526	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Kallmann Syndrome 2	22470819	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hepatocellular carcinoma	16750200	CNVD
Bladder cancer	19088036	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	17001308	CNVD
Breast cancer	17157792	CNVD
Cancer	17001308	CNVD
Cancer	18840272	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Chordoma	18071362	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Breast cancer	16608533	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21785460	CNVD
abnormal development	18461090	CNVD
Breast cancer	16620391	CNVD
Adrenocortical carcinoma	18281524	CNVD
Rhabdomyosarcoma	16790082	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	21138945	CNVD
Lung cancer	21569311	CNVD
Prader-willi syndrome	20588305	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21858162	CNVD
Cancer	20164920	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:39099800-39124600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:39109200-39109800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr8:39110800-39111000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr8:39122000-39123000	Enhancers	Hela-S3	cervix
5	chr8:39122200-39122800	Enhancers	NHEK	skin
6	chr8:39124400-39124800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr8:39124600-39125600	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr8:39125200-39125800	Enhancers	HepG2	liver
9	chr8:39125600-39129200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr8:39129200-39131200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr8:39129400-39130000	Enhancers	Muscle Satellite Cultured Cells	--
12	chr8:39129400-39130600	Enhancers	HMEC	breast
13	chr8:39129600-39130600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr8:39129800-39130600	Enhancers	NHEK	skin

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