Variant report

Variant	nsv890983
Chromosome Location	chr8:69447339-69503062
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:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:69496116..69499220-chr8:69532827..69534879,3	MCF-7	breast:
2	chr8:69490101..69493148-chr8:69643448..69647067,3	MCF-7	breast:
3	chr8:69495964..69498736-chr8:69764375..69767735,3	MCF-7	breast:
4	chr8:69488398..69489969-chr8:70073920..70075672,2	MCF-7	breast:
5	chr8:69489797..69490313-chr8:70437582..70438561,2	K562	blood:
6	chr8:69441306..69443760-chr8:69445499..69448302,2	MCF-7	breast:
7	chr8:69440806..69442992-chr8:69446765..69449048,2	K562	blood:
8	chr8:69491812..69494292-chr8:69497520..69499482,3	MCF-7	breast:
9	chr8:69489841..69490343-chr8:69685997..69686537,2	MCF-7	breast:
10	chr8:69489824..69491540-chr8:69533022..69534963,2	MCF-7	breast:
11	chr8:69488341..69491069-chr8:69684855..69686356,2	MCF-7	breast:
12	chr8:69488234..69491524-chr8:69761683..69765602,4	MCF-7	breast:
13	chr8:69455782..69457817-chr8:69462101..69463881,2	K562	blood:
14	chr8:69487873..69492018-chr8:69764164..69768555,7	MCF-7	breast:
15	chr8:69489517..69490141-chr8:69685805..69686684,3	MCF-7	breast:
16	chr8:69492103..69494727-chr8:69533506..69535044,2	MCF-7	breast:
17	chr8:69455782..69457817-chr8:69462101..69463881,2	K562	blood:
18	chr8:69463749..69466393-chr8:69471185..69473113,2	MCF-7	breast:
19	chr8:69491812..69494292-chr8:69497520..69499482,3	MCF-7	breast:
20	chr8:69463749..69466393-chr8:69471185..69473113,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000254337	chromatin interactions

Extended variants
information (count: 1048 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:1048 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6989036	chr8:69447339-69447340	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs184916250	chr8:69447351-69447352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs530014309	chr8:69447355-69447356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs549736679	chr8:69447367-69447368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs139257883	chr8:69447385-69447386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs143247028	chr8:69447389-69447390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs551557820	chr8:69447473-69447474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs147531219	chr8:69447480-69447481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs534124158	chr8:69447494-69447495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs138595736	chr8:69447499-69447500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs141625855	chr8:69447504-69447505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs6984964	chr8:69447548-69447549	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs555843236	chr8:69447551-69447552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs368505306	chr8:69447564-69447565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs576088559	chr8:69447586-69447587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs372542157	chr8:69447599-69447600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs544772075	chr8:69447637-69447638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs559145397	chr8:69447749-69447750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs11984521	chr8:69447789-69447790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs572531799	chr8:69447793-69447794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs180795259	chr8:69460000-69460001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs71517428	chr8:69460013-69460014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs145210921	chr8:69460033-69460034	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs185418433	chr8:69460057-69460058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs372622912	chr8:69460108-69460109	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs137890438	chr8:69460134-69460135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs557744822	chr8:69460192-69460193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs142384736	chr8:69460238-69460239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs73268437	chr8:69460248-69460249	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs377297331	chr8:69460252-69460253	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs73268438	chr8:69460261-69460262	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs566800352	chr8:69460262-69460263	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs535384368	chr8:69460292-69460293	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs555373023	chr8:69460304-69460305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs538300158	chr8:69460313-69460314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs7826286	chr8:69460337-69460338	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs7826288	chr8:69460341-69460342	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs557910032	chr8:69460376-69460377	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs185928763	chr8:69460397-69460398	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs146632758	chr8:69467203-69467204	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs552961010	chr8:69467219-69467220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs35329276	chr8:69467229-69467230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs35601591	chr8:69467254-69467255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs56093828	chr8:69467261-69467262	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs541782137	chr8:69467302-69467303	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs528247810	chr8:69467363-69467364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs575369824	chr8:69467371-69467372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs544860767	chr8:69467380-69467381	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs564668936	chr8:69467394-69467395	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs188075186	chr8:69467396-69467397	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

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
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
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
Cancer	16751803	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
Chronic lymphocytic leukemia	21546498	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
Sezary syndrome	18413736	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
head and neck squamous cell carcinoma	16715129	CNVD
Prostate cancer	16461572	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	21399628	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD
Colorectal cancer	21645411	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:69445400-69447800	Weak transcription	Adipose Nuclei	Adipose
2	chr8:69460000-69460400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr8:69467200-69467800	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr8:69467200-69467800	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr8:69467400-69467600	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr8:69467400-69467800	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr8:69467400-69468400	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr8:69467800-69468800	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr8:69467800-69468800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr8:69467800-69477400	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr8:69468400-69478600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr8:69468600-69469000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr8:69468600-69469000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr8:69468800-69469000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr8:69468800-69469000	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr8:69468800-69469600	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr8:69469600-69477400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr8:69475800-69476000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr8:69475800-69476000	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr8:69476000-69477400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr8:69476800-69477800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr8:69477400-69477800	Enhancers	H9 Cell Line	embryonic stem cell
23	chr8:69477400-69478000	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr8:69477400-69478000	Enhancers	H1 Cell Line	embryonic stem cell
25	chr8:69477400-69478000	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr8:69477400-69478200	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr8:69477400-69478800	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr8:69477400-69478800	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr8:69477600-69478000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr8:69478000-69478800	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr8:69478200-69478600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr8:69478600-69479000	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr8:69478600-69479000	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr8:69478800-69479000	Enhancers	H1 Cell Line	embryonic stem cell
35	chr8:69482200-69482800	Enhancers	HUVEC	blood vessel
36	chr8:69483400-69483800	Enhancers	H9 Cell Line	embryonic stem cell
37	chr8:69489600-69490800	Enhancers	HSMM	muscle
38	chr8:69490000-69490400	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr8:69490000-69490600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr8:69490000-69490600	Enhancers	Osteobl	bone
41	chr8:69490000-69490800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr8:69490000-69490800	Enhancers	Muscle Satellite Cultured Cells	--
43	chr8:69490400-69490600	Enhancers	HSMMtube	muscle
44	chr8:69490600-69490800	Enhancers	NHDF-Ad	bronchial
45	chr8:69490600-69496400	Weak transcription	HSMMtube	muscle
46	chr8:69490800-69494400	Weak transcription	HSMM	muscle
47	chr8:69490800-69496200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr8:69490800-69496200	Weak transcription	NHDF-Ad	bronchial
49	chr8:69491200-69491400	Enhancers	NHLF	lung
50	chr8:69491400-69495800	Weak transcription	NHLF	lung

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