Variant report

Variant	nsv890957
Chromosome Location	chr8:63266645-63310921
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:63295025..63297030-chr8:63298219..63300648,2	K562	blood:
2	chr11:113779878..113782406-chr8:63268704..63270468,2	MCF-7	breast:
3	chr8:63295025..63297030-chr8:63298219..63300648,2	K562	blood:
4	chr8:63277582..63279518-chr8:63281007..63282866,2	K562	blood:
5	chr8:63265104..63267008-chr8:63268436..63270305,2	K562	blood:
6	chr8:63280878..63284523-chr8:63286682..63289444,3	MCF-7	breast:
7	chr8:63277582..63279518-chr8:63281007..63282866,2	K562	blood:
8	chr8:63280878..63284523-chr8:63286682..63289444,3	MCF-7	breast:
9	chr8:63265104..63267008-chr8:63268436..63270305,2	K562	blood:

No data

Extended variants
information (count: 1491 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:1491 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556570502	chr8:63267210-63267211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs577913184	chr8:63267246-63267247	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs199753956	chr8:63267291-63267292	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs540907803	chr8:63267293-63267294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs369677323	chr8:63267295-63267296	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs572723804	chr8:63267343-63267344	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs186938028	chr8:63267371-63267372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs561528824	chr8:63267377-63267378	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs540877409	chr8:63267381-63267382	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs529024089	chr8:63267388-63267389	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs115833969	chr8:63267396-63267397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs562505477	chr8:63267400-63267401	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs532749614	chr8:63267424-63267425	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs560830607	chr8:63267446-63267447	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs77712843	chr8:63267469-63267470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs552105015	chr8:63267488-63267489	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs567140007	chr8:63267489-63267490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs527975532	chr8:63267507-63267508	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs549641666	chr8:63267538-63267539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs115497809	chr8:63267546-63267547	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs73684973	chr8:63267683-63267684	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs376636835	chr8:63267697-63267698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs191341578	chr8:63267712-63267713	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs149778732	chr8:63267718-63267719	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs73684974	chr8:63267741-63267742	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs73684975	chr8:63267745-63267746	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs118068046	chr8:63267749-63267750	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs10097272	chr8:63272213-63272214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs540655578	chr8:63272223-63272224	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs151145408	chr8:63272242-63272243	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs115180482	chr8:63272288-63272289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs141166486	chr8:63272324-63272325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs374536097	chr8:63272343-63272344	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs563499999	chr8:63272369-63272370	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs75249241	chr8:63272373-63272374	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs527355525	chr8:63272380-63272381	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs77767914	chr8:63272387-63272388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs376004737	chr8:63272421-63272422	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs193005394	chr8:63272480-63272481	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs564236580	chr8:63272493-63272494	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs368303458	chr8:63272509-63272510	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs549992256	chr8:63272588-63272589	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs147112978	chr8:63272646-63272647	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs538482118	chr8:63272674-63272675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs565551513	chr8:63272739-63272740	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs184674137	chr8:63272744-63272745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs550950855	chr8:63272757-63272758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs534473892	chr8:63272760-63272761	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs189137200	chr8:63272824-63272825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs147751908	chr8:63272845-63272846	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
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
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
Multiple myeloma	16461302	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
Salivary gland tumor	18059337	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
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	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
Colorectal cancer	16272173	CNVD
Melanoma	22183965	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
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Sezary syndrome	18413736	CNVD
Colorectal cancer	21645411	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:63267200-63267800	Enhancers	Fetal Intestine Large	intestine
2	chr8:63272200-63275200	Enhancers	HMEC	breast
3	chr8:63272400-63276000	Enhancers	Muscle Satellite Cultured Cells	--
4	chr8:63272800-63274600	Enhancers	A549	lung
5	chr8:63273800-63275000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr8:63274600-63275800	Weak transcription	A549	lung
7	chr8:63275600-63276000	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr8:63275800-63276000	Enhancers	A549	lung
9	chr8:63275800-63276200	Enhancers	H9 Cell Line	embryonic stem cell
10	chr8:63275800-63276200	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr8:63275800-63276200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr8:63275800-63276200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr8:63276000-63276200	Weak transcription	A549	lung
14	chr8:63276000-63276800	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr8:63276000-63281800	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr8:63276200-63281600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr8:63277000-63277400	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr8:63281000-63281200	Enhancers	Fetal Intestine Large	intestine
19	chr8:63281000-63281200	Enhancers	Fetal Intestine Small	intestine
20	chr8:63281200-63282000	Weak transcription	Fetal Intestine Large	intestine
21	chr8:63281400-63282000	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr8:63281400-63282000	Enhancers	A549	lung
23	chr8:63281400-63282200	Weak transcription	Fetal Intestine Small	intestine
24	chr8:63281400-63283600	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr8:63281600-63283800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr8:63281800-63283000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr8:63281800-63283800	Enhancers	Fetal Kidney	kidney
28	chr8:63281800-63284200	Enhancers	Muscle Satellite Cultured Cells	--
29	chr8:63282000-63282600	Flanking Active TSS	A549	lung
30	chr8:63282000-63282800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr8:63282000-63283000	Enhancers	Fetal Intestine Large	intestine
32	chr8:63282000-63283200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr8:63282000-63283600	Enhancers	Fetal Lung	lung
34	chr8:63282000-63283600	Enhancers	NH-A	brain
35	chr8:63282200-63282600	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr8:63282200-63283000	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr8:63282200-63283000	Enhancers	Fetal Intestine Small	intestine
38	chr8:63282600-63283600	Active TSS	A549	lung
39	chr8:63282800-63284600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr8:63283000-63284400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr8:63283600-63284000	Flanking Active TSS	A549	lung
42	chr8:63283600-63286800	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr8:63284000-63284800	Enhancers	A549	lung
44	chr8:63284400-63284600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr8:63284600-63284800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr8:63286800-63287000	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr8:63289400-63290000	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr8:63289800-63290000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr8:63290400-63291800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr8:63290400-63292600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain

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