Variant report

Variant	nsv1030713
Chromosome Location	chr8:122714959-122780805
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:22)
LncRNA
region (count:11)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:122760825..122763272-chr8:122767539..122770017,3	MCF-7	breast:
2	chr8:122755431..122757095-chr8:122757384..122758990,2	MCF-7	breast:
3	chr8:122734851..122737184-chr8:122740589..122742937,2	K562	blood:
4	chr8:122753828..122756644-chr8:122758679..122761517,2	MCF-7	breast:
5	chr8:122726768..122728642-chr8:122765614..122767562,2	MCF-7	breast:
6	chr8:122753262..122754932-chr8:122787253..122788907,2	MCF-7	breast:
7	chr8:122753828..122756644-chr8:122758679..122761517,2	MCF-7	breast:
8	chr8:122760825..122763272-chr8:122767539..122770017,3	MCF-7	breast:
9	chr8:122755431..122757095-chr8:122757384..122758990,2	MCF-7	breast:
10	chr8:122260847..122261665-chr8:122722871..122723422,2	MCF-7	breast:
11	chr8:122691123..122693754-chr8:122736382..122738326,2	MCF-7	breast:
12	chr8:122769171..122771131-chr8:122773334..122776244,2	MCF-7	breast:
13	chr8:122734851..122737184-chr8:122740589..122742937,2	K562	blood:
14	chr8:122654279..122655172-chr8:122722565..122723772,6	MCF-7	breast:
15	chr1:191426971..191427787-chr8:122736326..122736882,2	MCF-7	breast:
16	chr17:60609450..60610132-chr8:122751279..122752230,2	MCF-7	breast:
17	chr8:122723054..122723782-chr8:122841888..122842906,3	MCF-7	breast:
18	chr8:122659004..122661963-chr8:122736236..122737876,2	MCF-7	breast:
19	chr8:122769171..122771131-chr8:122773334..122776244,2	MCF-7	breast:
20	chr8:122272848..122273416-chr8:122722885..122723437,2	MCF-7	breast:
21	chr8:122726768..122728642-chr8:122765614..122767562,2	MCF-7	breast:
22	chr8:122651713..122654579-chr8:122736757..122738979,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-785H20.1.1-1	chr8:122719784-122719915	XLOC_006911
2	lnc-RP11-785H20.1.1-1	chr8:122719784-122719915	XLOC_006911
3	lnc-RP11-785H20.1.1-1	chr8:122719784-122719871	ENSG00000248478
4	lnc-RP11-785H20.1.1-1	chr8:122719784-122719915	XLOC_006911
5	lnc-RP11-785H20.1.1-4	chr8:122722611-122722867	refGeneNc_4254_NR_002835
6	lnc-RP11-785H20.1.1-4	chr8:122725687-122726743	refGeneNc_4254_NR_002835
7	lnc-RP11-785H20.1.1-4	chr8:122724005-122724152	refGeneNc_4254_NR_002835
8	lnc-RP11-785H20.1.1-1	chr8:122719784-122719915	XLOC_006911
9	lnc-RP11-785H20.1.1-1	chr8:122719784-122719915	XLOC_006911
10	lnc-RP11-785H20.1.1-4	chr8:122720767-122721589	refGeneNc_4254_NR_002835
11	lnc-RP11-785H20.1.1-3	chr8:122779025-122779183	l_3672_chr8:122779024-122961228_testes

No data

Variant related genes	Relation type
ENSG00000170961	chromatin interactions
ENSG00000248478	chromatin interactions
ENSG00000248690	chromatin interactions
FAM123B	miRNA target sites

Extended variants
information (count: 2299 )
Associated
traits (count: 143 )

Variant overlapped rSNPs/rCNVs (count:2299 , 50 per page) page: 1 2 3 4 5 6 7 ... 46

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540815290	chr8:122715006-122715007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs192144110	chr8:122715010-122715011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs371797658	chr8:122715034-122715035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs57087870	chr8:122715063-122715064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs546411881	chr8:122715090-122715091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs559802752	chr8:122715130-122715131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs184914318	chr8:122715135-122715136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs557032785	chr8:122715136-122715137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs568819084	chr8:122715154-122715155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs537716739	chr8:122715166-122715167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs142168333	chr8:122715201-122715202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs189524819	chr8:122715268-122715269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs71514745	chr8:122715298-122715299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs10956053	chr8:122715328-122715329	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs554350656	chr8:122715346-122715347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs386729388	chr8:122715347-122715348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs373489738	chr8:122715355-122715356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs549534986	chr8:122718221-122718222	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs569665860	chr8:122718243-122718244	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs376021408	chr8:122718307-122718308	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs538245255	chr8:122718309-122718310	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs558663850	chr8:122718352-122718353	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs572120811	chr8:122718386-122718387	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs532237025	chr8:122718446-122718447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs537122844	chr8:122718456-122718457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs554770188	chr8:122718519-122718520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs139526063	chr8:122718520-122718521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs28582571	chr8:122718575-122718576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs535332647	chr8:122718593-122718594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs187262926	chr8:122718613-122718614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs371598469	chr8:122718675-122718676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs571304199	chr8:122718681-122718682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs191715010	chr8:122718716-122718717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs577209393	chr8:122718744-122718745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs199611850	chr8:122718745-122718746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs545874359	chr8:122718770-122718771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs559424826	chr8:122718785-122718786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs538730041	chr8:122718800-122718801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs184067924	chr8:122718816-122718817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs555265599	chr8:122718876-122718877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs561920068	chr8:122718904-122718905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs530991937	chr8:122718921-122718922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs141641734	chr8:122718970-122718971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs189095737	chr8:122718997-122718998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs150497420	chr8:122719015-122719016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs114266543	chr8:122719141-122719142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs565795662	chr8:122719146-122719147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs534676762	chr8:122719166-122719167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs554682324	chr8:122719185-122719186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs57573499	chr8:122719239-122719240	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:143)

Disease	PMID	Source
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
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	17603634	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
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
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD
Breast cancer	20932292	CNVD
Gastric cancer	22539939	CNVD
Breast cancer	22056952	CNVD
Langer-Giedion syndrome	16773131	CNVD
Lung cancer	16740712	CNVD
Mental retardation	16773131	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Langer-Giedion syndrome	22470819	CNVD
Cornelia de Lange syndrome	24599119	CNVD
Gastric cancer	21528007	CNVD
Breast cancer	22532251	CNVD
Cervical cancer	21062161	CNVD
Cancer	21129771	CNVD
benign familial neonatal convulsions	18472482	CNVD
Breast cancer	16417655	CNVD
Astrocytoma	17387387	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
T-cell lymphomas	19863542	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	20607354	CNVD
Breast cancer	20814816	CNVD
Colorectal cancer	22486879	CNVD
Breast cancer	17908964	CNVD
Colorectal cancer	20031965	CNVD
Hepatocellular carcinoma	16750200	CNVD
Ovarian cancer	17908964	CNVD
Ovarian cancer	20031965	CNVD
Prostate cancer	20031965	CNVD
Non-small cell lung cancer	17643093	CNVD
Prostate cancer	19242612	CNVD
Colorectal cancer	16774939	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	18628472	CNVD
Malignant melanoma	17260012	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	16397240	CNVD
Multiple myeloma	16461302	CNVD
Multiple myeloma	16616336	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Breast cancer	21364760	CNVD
Burkitt''s lymphoma	20823134	CNVD
Melanoma	20688739	CNVD
Colorectal cancer	21645411	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Acute myeloid leukemia	17268525	CNVD
Acute myeloid leukemia	18379011	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Cancer	20164919	CNVD
Fever	22138850	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD
Chronic lymphocytic leukemia	20421269	CNVD

Chromatin state (count:409 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:122710000-122715400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:122718200-122718400	ZNF genes & repeats	A549	lung
3	chr8:122718400-122720600	Weak transcription	A549	lung
4	chr8:122720000-122720800	Enhancers	Fetal Lung	lung
5	chr8:122720400-122720800	Enhancers	Gastric	stomach
6	chr8:122720400-122721200	Enhancers	Hela-S3	cervix
7	chr8:122720400-122722600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr8:122720400-122723200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr8:122720600-122721400	Enhancers	A549	lung
10	chr8:122722600-122724800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr8:122722800-122723200	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr8:122723000-122725200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr8:122723200-122724000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr8:122723400-122724200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr8:122723600-122725200	Enhancers	Osteobl	bone
16	chr8:122723800-122724800	Enhancers	Muscle Satellite Cultured Cells	--
17	chr8:122723800-122724800	Enhancers	HUVEC	blood vessel
18	chr8:122723800-122724800	Enhancers	NH-A	brain
19	chr8:122724000-122724400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr8:122724200-122724400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr8:122724200-122724600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr8:122724400-122724600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr8:122724400-122728000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr8:122724600-122724800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr8:122724600-122725000	Weak transcription	A549	lung
26	chr8:122724800-122726400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr8:122724800-122726800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr8:122725200-122726400	Weak transcription	Osteobl	bone
29	chr8:122725200-122728200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr8:122725600-122725800	Weak transcription	A549	lung
31	chr8:122725800-122726000	Enhancers	A549	lung
32	chr8:122726000-122726800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr8:122726000-122726800	Weak transcription	A549	lung
34	chr8:122726000-122727200	Enhancers	Fetal Kidney	kidney
35	chr8:122726200-122726800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr8:122726400-122727200	Enhancers	Osteobl	bone
37	chr8:122726400-122728000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr8:122726600-122727200	Enhancers	Fetal Lung	lung
39	chr8:122726800-122727200	Enhancers	A549	lung
40	chr8:122726800-122727400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr8:122726800-122728000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr8:122728000-122728200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr8:122728000-122728200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr8:122728000-122729400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr8:122728800-122736400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
46	chr8:122729400-122730600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr8:122730600-122731200	Enhancers	Dnd41	blood
48	chr8:122730600-122732400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr8:122731200-122732800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr8:122731400-122732600	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin

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