Variant report

Variant	nsv970605
Chromosome Location	chr7:149762926-149916168
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:2)
LncRNA
region (count:9)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:149904533..149906054-chr7:153459094..153460640,2	K562	blood:
2	chr7:149887477..149889778-chr7:153473066..153474986,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ATP6V0E2-2	chr7:149771062-149771465	ENSG00000241449
2	lnc-ATP6V0E2-2	chr7:149770706-149770828	ENSG00000241449
3	lnc-ATP6V0E2-2	chr7:149775097-149776161	ucscGeneNc_uc003whi_1
4	lnc-ACTR3C-2	chr7:149903393-149903435	XLOC_006644
5	lnc-ATP6V0E2-2	chr7:149771062-149771172	ENSG00000241449
6	lnc-ATP6V0E2-2	chr7:149770570-149771181	ucscGeneNc_uc003whi_1
7	lnc-ATP6V0E2-2	chr7:149773639-149773744	ENSG00000241449
8	lnc-ATP6V0E2-2	chr7:149774721-149774910	ucscGeneNc_uc003whi_1
9	lnc-ATP6V0E2-2	chr7:149770706-149770828	ENSG00000241449

No data

Extended variants
information (count: 2647 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:2647 , 50 per page) page: 1 2 3 4 5 6 7 ... 53

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541865458	chr7:149765490-149765491	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs183081094	chr7:149765491-149765492	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs572481268	chr7:149765513-149765514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs541529821	chr7:149765527-149765528	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs564395504	chr7:149765547-149765548	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs532534990	chr7:149765553-149765554	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs4015702	chr7:149765596-149765597	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs186216967	chr7:149765601-149765602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs4015703	chr7:149765632-149765633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs112097190	chr7:149765634-149765635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs545337791	chr7:149765693-149765694	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs111764756	chr7:149765702-149765703	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs4015704	chr7:149765723-149765724	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs529611981	chr7:149765729-149765730	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs4015705	chr7:149765736-149765737	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs192187113	chr7:149765741-149765742	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs565658402	chr7:149765784-149765785	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs2373731	chr7:149765794-149765795	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs2888643	chr7:149765807-149765808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs184098378	chr7:149765811-149765812	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs551456472	chr7:149765825-149765826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs570965974	chr7:149765827-149765828	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs2373732	chr7:149765837-149765838	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs2888644	chr7:149765864-149765865	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs57948134	chr7:149765867-149765868	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs2373733	chr7:149765872-149765873	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs2003270	chr7:149765873-149765874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs397833281	chr7:149765874-149765875	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs549123018	chr7:149765883-149765884	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs567250638	chr7:149765889-149765890	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs377727253	chr7:149765891-149765892	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs58640073	chr7:149765896-149765897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs536530461	chr7:149765958-149765959	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs552958028	chr7:149765963-149765964	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs572426135	chr7:149766021-149766022	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs531483509	chr7:149766024-149766025	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs187839860	chr7:149766093-149766094	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs150658962	chr7:149766158-149766159	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs2533797	chr7:149766198-149766199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs192368378	chr7:149766272-149766273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs374948890	chr7:149766278-149766279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs570943160	chr7:149766302-149766303	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs544077162	chr7:149766303-149766304	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs563853501	chr7:149766306-149766307	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs374395935	chr7:149766406-149766407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs529650063	chr7:149766432-149766433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs543324332	chr7:149766442-149766443	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs538210397	chr7:149766447-149766448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs559770018	chr7:149766456-149766457	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs528096440	chr7:149766499-149766500	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Papillary thyroid carcinoma	21436994	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Hodgkin''s lymphoma	18179710	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Myelodysplastic syndrome	17634407	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	18923191	CNVD
Schizophrenia	17646849	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	16864856	CNVD
Autism	20808228	CNVD
Breast cancer	21509527	CNVD
Ovarian cancer	21720365	CNVD
Heart disease	21282601	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Glioblastoma multiforme	17002787	CNVD
Lobular carcinoma	20920651	CNVD
Long-qt syndrome	20920651	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Liver carcinoma	19366792	CNVD
Long-qt syndrome	17576883	CNVD
Bradycardia syndrome	17576883	CNVD
Sudden cardiac death	19188705	CNVD
renal disease	17924346	CNVD
Ovarian cancer	21781307	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:149765400-149767800	Enhancers	Fetal Muscle Leg	muscle
2	chr7:149766000-149766800	Enhancers	Fetal Heart	heart
3	chr7:149767200-149767800	Enhancers	Fetal Muscle Trunk	muscle
4	chr7:149768800-149769200	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr7:149769000-149771600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr7:149774400-149774800	Enhancers	Primary T cells from cord blood	blood
7	chr7:149774600-149775200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
8	chr7:149774600-149775200	Enhancers	Primary T helper cells PMA-I stimulated	--
9	chr7:149774800-149775000	Enhancers	Dnd41	blood
10	chr7:149774800-149775200	Enhancers	Primary T cells fromperipheralblood	blood
11	chr7:149774800-149775200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
12	chr7:149776400-149776800	ZNF genes & repeats	Lung	lung
13	chr7:149776800-149777200	Weak transcription	Lung	lung
14	chr7:149779200-149779800	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr7:149779200-149779800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr7:149783600-149783800	Enhancers	Fetal Muscle Leg	muscle
17	chr7:149784200-149787400	Weak transcription	Fetal Muscle Leg	muscle
18	chr7:149784400-149785000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr7:149784600-149784800	Enhancers	Adipose Nuclei	Adipose
20	chr7:149784800-149786000	Weak transcription	Adipose Nuclei	Adipose
21	chr7:149785000-149786200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr7:149786000-149787000	Enhancers	Adipose Nuclei	Adipose
23	chr7:149786600-149786800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr7:149786600-149788200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr7:149787400-149788200	Enhancers	Fetal Muscle Leg	muscle
26	chr7:149788000-149788200	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr7:149790600-149791200	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr7:149790600-149791800	Enhancers	H1 Cell Line	embryonic stem cell
29	chr7:149790800-149791400	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr7:149791000-149791800	Enhancers	Fetal Muscle Trunk	muscle
31	chr7:149791800-149793600	Weak transcription	Fetal Muscle Trunk	muscle
32	chr7:149793400-149793800	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr7:149793400-149794000	Enhancers	Hela-S3	cervix
34	chr7:149793400-149794200	Enhancers	Primary monocytes fromperipheralblood	blood
35	chr7:149793400-149794200	Enhancers	Monocytes-CD14+_RO01746	blood
36	chr7:149793800-149794000	Enhancers	Fetal Muscle Trunk	muscle
37	chr7:149794000-149797200	Weak transcription	Hela-S3	cervix
38	chr7:149794200-149795400	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr7:149795600-149795800	Enhancers	Primary monocytes fromperipheralblood	blood
40	chr7:149797200-149798000	Enhancers	Hela-S3	cervix
41	chr7:149798000-149798400	Flanking Active TSS	Hela-S3	cervix
42	chr7:149798400-149798600	Enhancers	Hela-S3	cervix
43	chr7:149798600-149798800	Flanking Active TSS	Hela-S3	cervix
44	chr7:149798800-149799200	Enhancers	Hela-S3	cervix
45	chr7:149808000-149808200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
46	chr7:149809200-149809400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
47	chr7:149809200-149809400	Bivalent Enhancer	Fetal Stomach	stomach
48	chr7:149809400-149809600	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
49	chr7:149809400-149810400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr7:149809800-149810400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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