Variant report

Variant	nsv1020323
Chromosome Location	chr8:61901412-61941384
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:41)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:41 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:61939184..61941234-chr8:61941938..61944773,2	K562	blood:
2	chr8:61922784..61924643-chr8:61937030..61939869,2	MCF-7	breast:
3	chr8:61941114..61942900-chr8:61948488..61950855,2	K562	blood:
4	chr8:61759701..61760622-chr8:61935756..61936633,9	MCF-7	breast:
5	chr8:61935230..61937011-chr8:61938977..61940542,2	K562	blood:
6	chr8:61904064..61906446-chr8:61914213..61915815,2	K562	blood:
7	chr8:61559948..61562739-chr8:61935074..61937781,2	K562	blood:
8	chr8:61916700..61920504-chr8:61923815..61926099,3	K562	blood:
9	chr8:61612804..61613328-chr8:61936184..61936687,2	MCF-7	breast:
10	chr8:61573025..61573694-chr8:61935940..61936504,2	MCF-7	breast:
11	chr8:61931901..61935171-chr8:61938511..61943080,4	K562	blood:
12	chr8:61931901..61935171-chr8:61938511..61943080,4	K562	blood:
13	chr8:61903857..61905695-chr8:61908821..61910338,2	K562	blood:
14	chr8:61759618..61760446-chr8:61935826..61936527,5	MCF-7	breast:
15	chr8:61935326..61936927-chr8:62007564..62009390,8	MCF-7	breast:
16	chr8:61935759..61936730-chr8:62008328..62008885,3	K562	blood:
17	chr8:61903857..61905695-chr8:61908821..61910338,2	K562	blood:
18	chr8:61909286..61911091-chr8:61912763..61914485,2	K562	blood:
19	chr8:61563900..61565522-chr8:61931938..61933624,2	MCF-7	breast:
20	chr8:61926425..61928022-chr8:61931862..61934315,2	K562	blood:
21	chr8:61935230..61937011-chr8:61938977..61940542,2	K562	blood:
22	chr8:61643620..61644210-chr8:61935831..61936694,2	MCF-7	breast:
23	chr8:61933739..61936332-chr8:61953830..61956057,2	MCF-7	breast:
24	chr8:61926018..61928553-chr8:61929575..61931127,2	K562	blood:
25	chr8:61926425..61928022-chr8:61931862..61934315,2	K562	blood:
26	chr8:61909390..61914043-chr8:61914275..61917284,4	K562	blood:
27	chr8:61572617..61573730-chr8:61935803..61936758,4	K562	blood:
28	chr8:61940028..61943357-chr8:61945337..61947792,3	MCF-7	breast:
29	chr8:61938648..61941234-chr8:61941937..61944773,2	K562	blood:
30	chr8:61822833..61825147-chr8:61903679..61905597,2	MCF-7	breast:
31	chr8:61937931..61939509-chr8:61940815..61942936,2	MCF-7	breast:
32	chr8:61937931..61939509-chr8:61940815..61942936,2	MCF-7	breast:
33	chr8:61916700..61920504-chr8:61923815..61926099,3	K562	blood:
34	chr8:61926018..61928553-chr8:61929575..61931127,2	K562	blood:
35	chr8:61904064..61906446-chr8:61914213..61915815,2	K562	blood:
36	chr8:61925781..61927667-chr8:61931252..61932864,2	MCF-7	breast:
37	chr8:61915782..61918089-chr8:61971663..61974178,2	K562	blood:
38	chr8:61909390..61914043-chr8:61914275..61917284,4	K562	blood:
39	chr8:61922784..61924643-chr8:61937030..61939869,2	MCF-7	breast:
40	chr8:61909286..61911091-chr8:61912763..61914485,2	K562	blood:
41	chr8:61925781..61927667-chr8:61931252..61932864,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CLVS1-4	chr8:61936148-61936900	NONHSAT126860
2	lnc-CLVS1-1	chr8:61939695-61940024	XLOC_006815
3	lnc-CLVS1-1	chr8:61938094-61938819	NONHSAT126853
4	lnc-CLVS1-1	chr8:61936025-61936049	XLOC_006815
5	lnc-CLVS1-1	chr8:61939695-61940021	XLOC_006815

No data

Variant related genes	Relation type
ENSG00000255289	chromatin interactions
ENSG00000254777	chromatin interactions
HECTD3	miRNA target sites

Extended variants
information (count: 1464 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:1464 , 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	rs12171648	chr8:61901412-61901413	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs373610987	chr8:61901424-61901425	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs150942456	chr8:61901446-61901447	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs546809742	chr8:61901465-61901466	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs568156179	chr8:61901466-61901467	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs535994471	chr8:61901483-61901484	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs192442391	chr8:61901516-61901517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs556564881	chr8:61901567-61901568	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs575772734	chr8:61901571-61901572	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs140284311	chr8:61901579-61901580	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs558160399	chr8:61901591-61901592	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs567004272	chr8:61901599-61901600	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs201277122	chr8:61901600-61901601	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs11774428	chr8:61901637-61901638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs147803867	chr8:61901645-61901646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs555678749	chr8:61901690-61901691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs574156758	chr8:61901704-61901705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs150458953	chr8:61901705-61901706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs547983201	chr8:61901706-61901707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs530495087	chr8:61901759-61901760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs34347474	chr8:61901765-61901766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs551786269	chr8:61901800-61901801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs563724123	chr8:61901801-61901802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs185044428	chr8:61901816-61901817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs546577301	chr8:61901833-61901834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs187562993	chr8:61901843-61901844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs535303484	chr8:61901883-61901884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs371468839	chr8:61901906-61901907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs192808206	chr8:61901948-61901949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs145345367	chr8:61901974-61901975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs184362379	chr8:61901981-61901982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs558223338	chr8:61902109-61902110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs149228904	chr8:61902149-61902150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs534149768	chr8:61902154-61902155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs189688575	chr8:61902165-61902166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs574241200	chr8:61902228-61902229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs115610965	chr8:61902230-61902231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs143386075	chr8:61902239-61902240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs558447697	chr8:61902240-61902241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs79967877	chr8:61902266-61902267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs545486303	chr8:61902307-61902308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs563788754	chr8:61902411-61902412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs527474801	chr8:61902412-61902413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs528081642	chr8:61902413-61902414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs373332090	chr8:61902414-61902415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs540189298	chr8:61902450-61902451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs371545376	chr8:61902451-61902452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs376070138	chr8:61902459-61902460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs561854206	chr8:61902460-61902461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs529162503	chr8:61902480-61902481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

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
Colorectal cancer	21645411	CNVD
Charge syndrome	20571795	CNVD
Breast cancer	22522925	CNVD
early-passage human iPS cells	21368824	CNVD
Pancreatic cancer	17952125	CNVD
small cell lung cancer	20016488	CNVD
Sezary syndrome	18413736	CNVD

Chromatin state (count:1200 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61895400-61905400	Weak transcription	Fetal Thymus	thymus
2	chr8:61896400-61909800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr8:61896800-61908800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr8:61896800-61909200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr8:61896800-61909200	Weak transcription	Fetal Brain Male	brain
6	chr8:61898800-61905400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:61899800-61905200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr8:61899800-61908800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr8:61900000-61904800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr8:61900800-61901600	Enhancers	Fetal Intestine Large	intestine
11	chr8:61900800-61901600	Enhancers	Fetal Intestine Small	intestine
12	chr8:61900800-61908800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr8:61901200-61905000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr8:61904000-61904200	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr8:61904000-61904200	Enhancers	GM12878-XiMat	blood
16	chr8:61904200-61905200	Weak transcription	GM12878-XiMat	blood
17	chr8:61904200-61906200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr8:61904600-61907200	Enhancers	Primary B cells from cord blood	blood
19	chr8:61904800-61906000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr8:61904800-61906400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
21	chr8:61905000-61906000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr8:61905000-61907400	Enhancers	Primary B cells from peripheral blood	blood
23	chr8:61905200-61905600	Enhancers	Fetal Muscle Leg	muscle
24	chr8:61905200-61905800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr8:61905200-61906600	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr8:61905200-61907000	Enhancers	GM12878-XiMat	blood
27	chr8:61905400-61905600	Enhancers	Fetal Thymus	thymus
28	chr8:61905400-61906000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr8:61905400-61906800	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr8:61905400-61906800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
31	chr8:61905400-61907200	Enhancers	Primary T cells from cord blood	blood
32	chr8:61905600-61906400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
33	chr8:61905600-61906800	Enhancers	Primary T cells fromperipheralblood	blood
34	chr8:61905600-61906800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
35	chr8:61905600-61909800	Weak transcription	Fetal Thymus	thymus
36	chr8:61905800-61906400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
37	chr8:61905800-61907000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
38	chr8:61905800-61909200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr8:61906000-61906400	Enhancers	Primary T helper cells PMA-I stimulated	--
40	chr8:61906000-61908800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr8:61906000-61909000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr8:61906000-61909600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr8:61906200-61906600	Enhancers	Primary T helper naive cells from peripheral blood	blood
44	chr8:61906200-61906800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
45	chr8:61906200-61907200	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr8:61906400-61909800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr8:61906400-61909800	Weak transcription	Primary T helper cells PMA-I stimulated	--
48	chr8:61906400-61910000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr8:61906400-61910200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr8:61906600-61909600	Weak transcription	Primary T helper cells fromperipheralblood	blood

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