Variant report

Variant	esv3389773
Chromosome Location	chr8:91824825-91840602
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr8:91839384..91841542-chr8:91868358..91870076,2	MCF-7	breast:
2	chr8:91834090..91836041-chr8:91836848..91839680,3	MCF-7	breast:
3	chr8:91817744..91820651-chr8:91829756..91831742,2	MCF-7	breast:
4	chr8:91829191..91831479-chr8:91833680..91835528,2	K562	blood:
5	chr8:91814228..91817929-chr8:91831824..91835241,3	MCF-7	breast:
6	chr8:91829191..91831479-chr8:91833680..91835528,2	K562	blood:
7	chr8:91827987..91829738-chr8:91831517..91833076,2	MCF-7	breast:
8	chr8:91780366..91783259-chr8:91839606..91841558,2	MCF-7	breast:
9	chr8:91832112..91834174-chr8:91840847..91843486,2	K562	blood:
10	chr8:91831676..91834911-chr8:91834922..91836716,4	MCF-7	breast:
11	chr8:91831676..91834911-chr8:91834922..91836716,4	MCF-7	breast:
12	chr8:91827987..91829738-chr8:91831517..91833076,2	MCF-7	breast:
13	chr8:91816821..91818554-chr8:91824690..91826545,2	MCF-7	breast:
14	chr8:91818559..91820299-chr8:91824622..91826937,2	K562	blood:
15	chr8:91834090..91836041-chr8:91836848..91839680,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TMEM64-2	chr8:91824884-91825022	ENSG00000254251.1
2	lnc-TMEM64-2	chr8:91825133-91825388	ENSG00000254251.1

No data

Extended variants
information (count: 329 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:329 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4358770	chr8:91824900-91824901	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs535015449	chr8:91824936-91824937	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs185943708	chr8:91824944-91824945	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs4236840	chr8:91825017-91825018	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs66508840	chr8:91825165-91825166	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs398008735	chr8:91825167-91825168	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs557144893	chr8:91825188-91825189	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs561717421	chr8:91825191-91825192	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs77162636	chr8:91825211-91825212	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs543901224	chr8:91825212-91825213	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs565356999	chr8:91825240-91825241	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs532532614	chr8:91825279-91825280	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs541408848	chr8:91825387-91825388	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs138386705	chr8:91831032-91831033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs142977618	chr8:91831060-91831061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs146131309	chr8:91831061-91831062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs543283073	chr8:91831066-91831067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs551806551	chr8:91831119-91831120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs558791786	chr8:91831144-91831145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs73692706	chr8:91831145-91831146	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs566746580	chr8:91831236-91831237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs541207440	chr8:91831274-91831275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs372665950	chr8:91831352-91831353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs559327997	chr8:91831357-91831358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs534112051	chr8:91831371-91831372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs552961215	chr8:91831382-91831383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs369953532	chr8:91831385-91831386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs527743176	chr8:91831428-91831429	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs73313059	chr8:91831446-91831447	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs375132432	chr8:91831474-91831475	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs561234392	chr8:91831495-91831496	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs73692708	chr8:91831556-91831557	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs555341106	chr8:91831577-91831578	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs549936323	chr8:91831665-91831666	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs117783026	chr8:91831696-91831697	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs556177524	chr8:91831710-91831711	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs188792300	chr8:91831714-91831715	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs566151653	chr8:91831718-91831719	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs577675118	chr8:91831738-91831739	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs535909146	chr8:91831756-91831757	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs192127336	chr8:91831781-91831782	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs569438675	chr8:91831799-91831800	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs148792637	chr8:91831864-91831865	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs558308132	chr8:91831866-91831867	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs112220186	chr8:91831870-91831871	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs141596454	chr8:91831927-91831928	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs150508040	chr8:91831928-91831929	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs553094120	chr8:91831956-91831957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs139462885	chr8:91832027-91832028	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs144273439	chr8:91832041-91832042	Weak transcription Enhancers	n/a	n/a	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
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
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
Breast cancer	21364760	CNVD
Breast cancer	21611746	CNVD
Colorectal cancer	21645411	CNVD

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:91831000-91834200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr8:91831400-91833200	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr8:91831600-91831800	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr8:91831600-91832000	Enhancers	Brain Angular Gyrus	brain
5	chr8:91831600-91832400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
6	chr8:91831600-91835400	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr8:91831800-91835400	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr8:91831800-91835400	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr8:91832000-91832200	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr8:91832000-91833000	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr8:91832000-91849400	Weak transcription	Brain Angular Gyrus	brain
12	chr8:91832200-91832400	Enhancers	H9 Cell Line	embryonic stem cell
13	chr8:91832200-91832400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr8:91832200-91832800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr8:91832400-91833000	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr8:91832400-91843400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr8:91832800-91834400	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr8:91833000-91833600	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr8:91833000-91833600	Enhancers	H9 Cell Line	embryonic stem cell
20	chr8:91833000-91833800	Enhancers	H1 Cell Line	embryonic stem cell
21	chr8:91833000-91833800	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr8:91833200-91833600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr8:91833200-91834000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr8:91833600-91834600	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr8:91833600-91834800	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr8:91833600-91835800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr8:91833800-91834200	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr8:91833800-91838200	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr8:91834000-91839400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr8:91834200-91834400	Enhancers	H1 Cell Line	embryonic stem cell
31	chr8:91834400-91838000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr8:91834400-91838400	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr8:91834600-91838000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr8:91834800-91835400	Enhancers	H9 Cell Line	embryonic stem cell
35	chr8:91835400-91838000	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr8:91835400-91838000	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr8:91835400-91838000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr8:91835400-91838400	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr8:91835400-91847400	Weak transcription	Brain Anterior Caudate	brain
40	chr8:91835800-91836200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
41	chr8:91836200-91836400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr8:91836200-91838000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr8:91838000-91839000	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr8:91838000-91839800	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr8:91838000-91841800	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr8:91838000-91841800	Enhancers	iPS-15b Cell Line	embryonic stem cell
47	chr8:91838000-91842000	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr8:91838000-91842200	Enhancers	iPS-20b Cell Line	embryonic stem cell
49	chr8:91838200-91838800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
50	chr8:91838200-91839800	Enhancers	HUES6 Cell Line	embryonic stem cell

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