Variant report

Variant	nsv890909
Chromosome Location	chr8:53714558-53768651
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:53742398..53744549-chr8:53749329..53751637,2	K562	blood:
2	chr8:53653974..53655794-chr8:53756951..53758784,2	MCF-7	breast:
3	chr8:53763900..53765944-chr8:53767253..53769124,2	MCF-7	breast:
4	chr8:53742557..53744441-chr8:53753816..53756483,2	MCF-7	breast:
5	chr8:53738269..53739834-chr8:53754081..53756709,2	MCF-7	breast:
6	chr8:53738269..53739834-chr8:53754081..53756709,2	MCF-7	breast:
7	chr8:53742557..53744441-chr8:53753816..53756483,2	MCF-7	breast:
8	chr8:53742398..53744549-chr8:53749329..53751637,2	K562	blood:
9	chr8:53751467..53754365-chr8:53754550..53756405,2	MCF-7	breast:
10	chr8:53751467..53754365-chr8:53754550..53756405,2	MCF-7	breast:
11	chr8:53763900..53765944-chr8:53767253..53769124,2	MCF-7	breast:

No data

Extended variants
information (count: 2030 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:2030 , 50 per page) page: 1 2 3 4 5 6 7 ... 41

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10091593	chr8:53714558-53714559	ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs544206663	chr8:53714636-53714637	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs1452517	chr8:53714697-53714698	ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs574719109	chr8:53714736-53714737	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs541744296	chr8:53714755-53714756	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs560324792	chr8:53714756-53714757	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs55926534	chr8:53714811-53714812	ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs552366593	chr8:53714812-53714813	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs562880569	chr8:53714830-53714831	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs564181017	chr8:53714838-53714839	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs138837554	chr8:53714842-53714843	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs376427055	chr8:53714849-53714850	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs576394689	chr8:53714853-53714854	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs193063323	chr8:53714906-53714907	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs112189765	chr8:53714928-53714929	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs184406708	chr8:53714936-53714937	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs548577306	chr8:53714954-53714955	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs76182478	chr8:53714988-53714989	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs560896480	chr8:53714996-53714997	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs529944215	chr8:53715191-53715192	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs558682131	chr8:53715202-53715203	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs570661569	chr8:53715213-53715214	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs187936152	chr8:53715225-53715226	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs556556334	chr8:53715226-53715227	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs142238329	chr8:53715237-53715238	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs192360480	chr8:53715243-53715244	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs183964012	chr8:53715246-53715247	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs375364880	chr8:53715282-53715283	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs145901708	chr8:53715302-53715303	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs546024010	chr8:53715318-53715319	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs138374457	chr8:53715330-53715331	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs531474282	chr8:53715349-53715350	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs543526262	chr8:53715376-53715377	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs561750908	chr8:53715462-53715463	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs528900877	chr8:53715550-53715551	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs149620541	chr8:53715551-53715552	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs567059046	chr8:53715576-53715577	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs189431461	chr8:53715604-53715605	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs552396685	chr8:53715615-53715616	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs570697641	chr8:53715659-53715660	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs6473744	chr8:53715718-53715719	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs113666191	chr8:53715742-53715743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs568508888	chr8:53715773-53715774	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs181423528	chr8:53715780-53715781	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs554088747	chr8:53715781-53715782	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs567421588	chr8:53715782-53715783	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs546109488	chr8:53715788-53715789	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs184812264	chr8:53715795-53715796	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs576282086	chr8:53715810-53715811	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs543573645	chr8:53715816-53715817	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
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
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Salivary gland tumor	18059337	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
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
abnormal development	18461090	CNVD
Cancer	20164920	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
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
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	22286061	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Sezary syndrome	18413736	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Uveal melanoma	20484589	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21785460	CNVD
Colorectal cancer	21645411	CNVD
Renal cell carcinoma	21215367	CNVD

Chromatin state (count:289 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:53713400-53715600	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:53714000-53716400	Enhancers	Dnd41	blood
3	chr8:53715600-53718200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr8:53716400-53719400	ZNF genes & repeats	Dnd41	blood
5	chr8:53718200-53719400	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr8:53719400-53729000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr8:53725400-53730800	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr8:53726600-53728200	Enhancers	H1 Cell Line	embryonic stem cell
9	chr8:53727200-53727400	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr8:53727200-53727600	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr8:53727200-53728200	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr8:53727400-53727600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
13	chr8:53727400-53727800	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr8:53727400-53728200	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr8:53727400-53728200	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr8:53727400-53728200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr8:53727400-53728400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr8:53727600-53727800	Active TSS	iPS-20b Cell Line	embryonic stem cell
19	chr8:53727600-53728000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr8:53727600-53731200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr8:53727800-53728200	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr8:53727800-53728200	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr8:53727800-53728200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr8:53728200-53728400	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr8:53728200-53730600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr8:53728200-53730800	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr8:53728200-53730800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr8:53728200-53731000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr8:53728200-53731200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr8:53728200-53731400	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr8:53728200-53738600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr8:53728400-53730800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr8:53728400-53731000	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr8:53729000-53729200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr8:53729000-53729400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr8:53729000-53729600	Enhancers	Hela-S3	cervix
37	chr8:53729000-53729600	Enhancers	Monocytes-CD14+_RO01746	blood
38	chr8:53729000-53729800	Enhancers	Liver	Liver
39	chr8:53729000-53729800	Enhancers	NHEK	skin
40	chr8:53729000-53731200	Enhancers	HMEC	breast
41	chr8:53729000-53739200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr8:53729200-53729600	Enhancers	Primary neutrophils fromperipheralblood	blood
43	chr8:53729200-53730200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr8:53729400-53730400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr8:53729600-53731600	Weak transcription	Hela-S3	cervix
46	chr8:53729800-53730200	Weak transcription	NHEK	skin
47	chr8:53729800-53732000	Weak transcription	Liver	Liver
48	chr8:53730200-53731000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr8:53730200-53731000	Enhancers	NHEK	skin
50	chr8:53730400-53731000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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