Variant report

Variant	nsv1024074
Chromosome Location	chr8:116211511-116387442
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:47)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:47 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:116213648..116215794-chr8:116217541..116219092,2	MCF-7	breast:
2	chr2:216439920..216440742-chr8:116253681..116254634,2	MCF-7	breast:
3	chr8:116348407..116351050-chr8:116358149..116360628,2	MCF-7	breast:
4	chr8:116293249..116295403-chr8:116296761..116300178,3	MCF-7	breast:
5	chr8:116315645..116318388-chr8:116334420..116337120,2	MCF-7	breast:
6	chr8:116214469..116216744-chr8:116223600..116226019,2	MCF-7	breast:
7	chr8:116250097..116251788-chr8:116254708..116257599,2	K562	blood:
8	chr8:116277489..116279822-chr8:116283595..116286223,2	K562	blood:
9	chr8:116262983..116265572-chr8:116273633..116276447,2	MCF-7	breast:
10	chr8:116278892..116281604-chr8:116286464..116288900,3	K562	blood:
11	chr8:116370128..116373090-chr8:116374851..116377814,2	K562	blood:
12	chr8:116297686..116300459-chr8:116300481..116302330,2	MCF-7	breast:
13	chr8:116247006..116249892-chr8:116254093..116255639,2	MCF-7	breast:
14	chr8:116262983..116265572-chr8:116273633..116276447,2	MCF-7	breast:
15	chr8:116370128..116373090-chr8:116374851..116377814,2	K562	blood:
16	chr8:116220820..116222856-chr8:116231081..116233404,2	MCF-7	breast:
17	chr8:116371590..116373272-chr8:116376314..116378458,2	K562	blood:
18	chr8:116381118..116383492-chr8:116388579..116390921,2	K562	blood:
19	chr8:116376649..116379861-chr8:116380843..116382728,3	K562	blood:
20	chr8:116139843..116140617-chr8:116286036..116286953,6	MCF-7	breast:
21	chr8:116286407..116287127-chr8:117366785..117367308,2	MCF-7	breast:
22	chr8:116387327..116388979-chr8:116394076..116396011,2	K562	blood:
23	chr8:116348407..116351050-chr8:116358149..116360628,2	MCF-7	breast:
24	chr8:116376649..116379861-chr8:116380843..116382728,3	K562	blood:
25	chr8:116302740..116305061-chr8:116305750..116307370,2	MCF-7	breast:
26	chr8:116213648..116215794-chr8:116217541..116219092,2	MCF-7	breast:
27	chr8:116214469..116216744-chr8:116223600..116226019,2	MCF-7	breast:
28	chr8:116211366..116214115-chr8:116220213..116221723,2	MCF-7	breast:
29	chr8:116277489..116279822-chr8:116283595..116286223,2	K562	blood:
30	chr8:116353958..116356996-chr8:116360059..116363990,3	K562	blood:
31	chr8:116315645..116318388-chr8:116334420..116337120,2	MCF-7	breast:
32	chr8:116369889..116371404-chr8:116374233..116376650,2	MCF-7	breast:
33	chr8:116211366..116214115-chr8:116220213..116221723,2	MCF-7	breast:
34	chr8:116205857..116209452-chr8:116213636..116216390,4	MCF-7	breast:
35	chr8:116337159..116339924-chr8:116346197..116348214,2	MCF-7	breast:
36	chr8:116293249..116295403-chr8:116296761..116300178,3	MCF-7	breast:
37	chr8:116302740..116305061-chr8:116305750..116307370,2	MCF-7	breast:
38	chr8:116297686..116300459-chr8:116300481..116302330,2	MCF-7	breast:
39	chr8:116369889..116371404-chr8:116374233..116376650,2	MCF-7	breast:
40	chr8:116250097..116251788-chr8:116254708..116257599,2	K562	blood:
41	chr8:116337159..116339924-chr8:116346197..116348214,2	MCF-7	breast:
42	chr8:116278892..116281604-chr8:116286464..116288900,3	K562	blood:
43	chr8:116371590..116373272-chr8:116376314..116378458,2	K562	blood:
44	chr8:116353958..116356996-chr8:116360059..116363990,3	K562	blood:
45	chr8:116220820..116222856-chr8:116231081..116233404,2	MCF-7	breast:
46	chr8:116139667..116140765-chr8:116286061..116287283,6	MCF-7	breast:
47	chr8:116247006..116249892-chr8:116254093..116255639,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TRPS1-2	chr8:116224921-116224962	NONHSAT128361
2	lnc-TRPS1-2	chr8:116227264-116227517	NONHSAT128361
3	lnc-TRPS1-2	chr8:116211884-116212003	NONHSAT128361

No data

Extended variants
information (count: 4452 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:4452 , 50 per page) page: 1 2 3 4 5 6 7 ... 90

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141393696	chr8:116211523-116211524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs72138286	chr8:116211563-116211564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs148703606	chr8:116211565-116211566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs147698054	chr8:116211566-116211567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs369324478	chr8:116211578-116211579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs150406926	chr8:116211582-116211583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs138197846	chr8:116211633-116211634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs575225331	chr8:116211641-116211642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs149596685	chr8:116211700-116211701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs146118433	chr8:116211759-116211760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs575793668	chr8:116211780-116211781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs543495732	chr8:116211806-116211807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs545341289	chr8:116211813-116211814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs113283351	chr8:116211814-116211815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs530956546	chr8:116211873-116211874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs74886428	chr8:116211893-116211894	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
17	rs183176455	chr8:116211930-116211931	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
18	rs549438096	chr8:116211981-116211982	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
19	rs540647708	chr8:116211984-116211985	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
20	rs556925362	chr8:116212032-116212033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs529923764	chr8:116212042-116212043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs548218067	chr8:116212045-116212046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs569831043	chr8:116212095-116212096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs576871870	chr8:116212121-116212122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs142240734	chr8:116212129-116212130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs570977486	chr8:116212171-116212172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs534979129	chr8:116212178-116212179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs185969364	chr8:116212190-116212191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs77782693	chr8:116212214-116212215	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs539448520	chr8:116212215-116212216	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs148587568	chr8:116212216-116212217	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs116879429	chr8:116212300-116212301	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs546083294	chr8:116212363-116212364	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs553219284	chr8:116212380-116212381	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs191711802	chr8:116212384-116212385	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs931558	chr8:116212431-116212432	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs75954680	chr8:116212494-116212495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs142490525	chr8:116212649-116212650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs183057547	chr8:116212674-116212675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs542099136	chr8:116212681-116212682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs563447941	chr8:116212682-116212683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs531874384	chr8:116212736-116212737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs79420360	chr8:116212752-116212753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs4546692	chr8:116212766-116212767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs139503766	chr8:116212767-116212768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs570692424	chr8:116212770-116212771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs4546693	chr8:116212804-116212805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs149701656	chr8:116212827-116212828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs573224871	chr8:116212849-116212850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs570898822	chr8:116212956-116212957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
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
Gastric cancer	17908304	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	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
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
Glioblastoma multiforme	21080181	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
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	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
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
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Non-small cell lung cancer	19010865	CNVD
small cell lung cancer	20016488	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21364760	CNVD
Neuroticism	17667963	CNVD
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Cancer	20164920	CNVD
Schizophrenia	23813976	CNVD
Renal cell carcinoma	21215367	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	20932292	CNVD

Chromatin state (count:641 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:116196800-116215200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr8:116197600-116215600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr8:116207000-116212200	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr8:116212200-116212400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
5	chr8:116212400-116215600	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr8:116214600-116215000	Enhancers	Muscle Satellite Cultured Cells	--
7	chr8:116214600-116215400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr8:116214600-116215400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr8:116214800-116215400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr8:116214800-116215400	Enhancers	HMEC	breast
11	chr8:116215200-116219000	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr8:116215400-116219000	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr8:116215400-116231400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr8:116215600-116215800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
15	chr8:116215600-116218800	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr8:116215800-116216200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr8:116215800-116218400	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr8:116215800-116219600	Enhancers	Dnd41	blood
19	chr8:116216000-116217600	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr8:116216200-116216400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
21	chr8:116216200-116216400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr8:116216200-116216800	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr8:116216200-116216800	Enhancers	H1 Cell Line	embryonic stem cell
24	chr8:116216200-116217400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr8:116216200-116220200	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr8:116216400-116217200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr8:116216400-116217400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr8:116216400-116219800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr8:116216800-116219400	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr8:116216800-116219800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr8:116217000-116220200	Enhancers	Primary T cells from cord blood	blood
32	chr8:116217200-116217400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr8:116217200-116217400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
34	chr8:116217400-116218000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr8:116217400-116219600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr8:116217600-116218600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr8:116218000-116220000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
38	chr8:116218000-116220200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
39	chr8:116218200-116218800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
40	chr8:116218400-116220000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr8:116218600-116219200	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr8:116218800-116219800	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr8:116218800-116219800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr8:116219000-116219400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr8:116219200-116219600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr8:116219400-116220400	Enhancers	iPS-15b Cell Line	embryonic stem cell
47	chr8:116219600-116220600	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr8:116219600-116221800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr8:116219600-116221800	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr8:116219600-116230400	Weak transcription	Dnd41	blood

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