Variant report

Variant	nsv972595
Chromosome Location	chr8:104537652-104568880
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:5)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr8:104535523..104537579-chr8:104542735..104544928,3	MCF-7	breast:
2	chr8:104530294..104532615-chr8:104546510..104548357,2	K562	blood:
3	chr8:104545564..104547909-chr8:104548015..104549583,2	MCF-7	breast:
4	chr8:104531362..104533373-chr8:104536009..104538993,2	MCF-7	breast:
5	chr8:104545564..104547909-chr8:104548015..104549583,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DCAF13-2	chr8:104546104-104550388	ucscGeneNc_uc010mce_1
2	lnc-SLC25A32-7	chr8:104563383-104564919	l_3665_chr8:104562639-104580934_testes
3	lnc-SLC25A32-7	chr8:104562640-104563356	l_3665_chr8:104562639-104580934_testes

No data

Extended variants
information (count: 992 )
Associated
traits (count: 113 )

Variant overlapped rSNPs/rCNVs (count:992 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551517908	chr8:104537663-104537664	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs2469978	chr8:104537715-104537716	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs151315496	chr8:104537716-104537717	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs374667899	chr8:104537723-104537724	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs373342143	chr8:104537740-104537741	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs573339925	chr8:104537775-104537776	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs534567267	chr8:104537777-104537778	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs553396304	chr8:104537795-104537796	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs139410945	chr8:104537800-104537801	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs547036567	chr8:104537825-104537826	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs563943004	chr8:104537855-104537856	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs79124244	chr8:104537872-104537873	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs543191738	chr8:104537941-104537942	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs6988627	chr8:104537961-104537962	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs373285762	chr8:104537994-104537995	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs546944642	chr8:104538056-104538057	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs559402847	chr8:104538097-104538098	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs533289945	chr8:104538103-104538104	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs373368866	chr8:104538114-104538115	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs145333569	chr8:104538122-104538123	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs147671104	chr8:104538150-104538151	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs193049990	chr8:104538151-104538152	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs552399416	chr8:104538173-104538174	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs548675345	chr8:104538189-104538190	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs75469540	chr8:104538228-104538229	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs564417937	chr8:104538279-104538280	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs114215116	chr8:104538292-104538293	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs377649819	chr8:104538324-104538325	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs377555517	chr8:104538391-104538392	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs10090897	chr8:104538406-104538407	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs79648015	chr8:104538434-104538435	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs557685353	chr8:104538448-104538449	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs146611921	chr8:104538460-104538461	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs560719330	chr8:104538491-104538492	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs185754103	chr8:104538493-104538494	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs145000329	chr8:104538494-104538495	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs75003815	chr8:104538509-104538510	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs559297664	chr8:104538522-104538523	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs187897131	chr8:104538527-104538528	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs528510504	chr8:104538546-104538547	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs192001759	chr8:104538559-104538560	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs532396773	chr8:104538665-104538666	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs545324551	chr8:104538669-104538670	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs560859862	chr8:104538677-104538678	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs79817203	chr8:104538678-104538679	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs530620581	chr8:104538729-104538730	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs548742448	chr8:104538739-104538740	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs75433178	chr8:104538754-104538755	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs528225692	chr8:104538762-104538763	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs546358369	chr8:104538769-104538770	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:113)

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
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
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
Multiple myeloma	16461302	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
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
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	17260012	CNVD
Sezary syndrome	18413736	CNVD
Urothelial cell carcinoma	18451213	CNVD
Colorectal cancer	21645411	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Ovarian cancer	20844748	CNVD
Colorectal cancer	16912164	CNVD
Breast cancer	20409316	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Autism	20531469	CNVD
Oral squamous cell carcinoma	21853135	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:104519600-104538000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr8:104524800-104537800	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr8:104530200-104555600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr8:104532000-104538200	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr8:104532800-104538200	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr8:104535200-104538000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr8:104536800-104539800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
8	chr8:104537600-104537800	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr8:104537600-104538600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
10	chr8:104537600-104539600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr8:104537800-104539600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
12	chr8:104538000-104538600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
13	chr8:104538000-104539600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr8:104538200-104538400	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
15	chr8:104538200-104539800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
16	chr8:104539600-104541400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr8:104541400-104542200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
18	chr8:104544800-104545000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
19	chr8:104544800-104545600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
20	chr8:104545000-104552000	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr8:104545600-104551800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr8:104545600-104551800	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr8:104546000-104546600	Active TSS	Aorta	Aorta
24	chr8:104546200-104546400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
25	chr8:104546200-104546400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
26	chr8:104546400-104547400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr8:104546400-104551200	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr8:104547400-104547600	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr8:104547400-104548200	Enhancers	Liver	Liver
30	chr8:104547600-104548400	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
31	chr8:104548600-104549000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr8:104548600-104549000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
33	chr8:104548800-104549000	Bivalent Enhancer	Aorta	Aorta
34	chr8:104551200-104554000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
35	chr8:104551400-104552800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
36	chr8:104551400-104553800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
37	chr8:104551600-104552000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr8:104551600-104552200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr8:104551800-104552200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr8:104551800-104552400	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr8:104551800-104552600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
42	chr8:104551800-104552800	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
43	chr8:104551800-104552800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
44	chr8:104551800-104553000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
45	chr8:104552000-104552200	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr8:104552000-104552400	ZNF genes & repeats	Fetal Intestine Small	intestine
47	chr8:104552000-104552600	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
48	chr8:104552000-104552800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr8:104552000-104552800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr8:104552000-104553600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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