Variant report

Variant	nsv887742
Chromosome Location	chr7:16254553-16284139
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:16)
LncRNA
region (count:16)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:16263097..16266771-chr7:16270720..16274586,3	K562	blood:
2	chr7:16262958..16265861-chr7:16270760..16273242,2	K562	blood:
3	chr7:16271772..16276074-chr7:16279630..16282231,4	K562	blood:
4	chr7:16277063..16278675-chr7:16280781..16282945,2	K562	blood:
5	chr7:16271837..16274588-chr7:16275186..16279473,3	K562	blood:
6	chr7:16262958..16265861-chr7:16270760..16273242,2	K562	blood:
7	chr7:16263097..16266771-chr7:16270720..16274586,3	K562	blood:
8	chr7:16272248..16275452-chr7:16305157..16308165,4	K562	blood:
9	chr7:16271772..16276074-chr7:16279630..16282231,4	K562	blood:
10	chr7:16277063..16278861-chr7:16280781..16282424,2	K562	blood:
11	chr7:16275733..16277560-chr7:16684679..16686192,2	K562	blood:
12	chr7:16277063..16278675-chr7:16280781..16282945,2	K562	blood:
13	chr7:16272248..16274869-chr7:16305157..16307096,2	K562	blood:
14	chr7:16271837..16274588-chr7:16275186..16279473,3	K562	blood:
15	chr7:16274806..16276431-chr7:16298235..16300903,2	K562	blood:
16	chr7:16277063..16278861-chr7:16280781..16282424,2	K562	blood:

(count:16 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC006035.2-1	chr7:16276934-16277038	NONHSAT119293
2	lnc-AC006035.2-1	chr7:16276934-16277035	NONHSAT119295
3	lnc-AC006035.2-1	chr7:16275527-16275604	NONHSAT119295
4	lnc-AC006035.2-1	chr7:16276934-16277038	NONHSAT119294
5	lnc-AC006035.2-1	chr7:16276934-16276977	NONHSAT119292
6	lnc-AC006035.2-1	chr7:16275007-16276752	ucscGeneNc_uc003stf_2
7	lnc-AC006035.2-1	chr7:16255958-16256194	ENSG00000229688.3
8	lnc-AC006035.2-1	chr7:16268049-16268246	ucscGeneNc_uc003stf_2
9	lnc-AC006035.2-1	chr7:16256009-16256194	ENSG00000229688.3
10	lnc-AC006035.2-1	chr7:16276934-16277035	ENSG00000229688.3
11	lnc-AC006035.2-1	chr7:16276934-16277038	ENSG00000229688
12	lnc-AC006035.2-1	chr7:16275527-16275604	ENSG00000229688
13	lnc-AC006035.2-1	chr7:16272377-16272461	ucscGeneNc_uc003stf_2
14	lnc-AC006035.2-1	chr7:16276934-16277031	ENSG00000229688.3
15	lnc-AC006035.2-1	chr7:16276934-16276977	ENSG00000229688
16	lnc-AC006035.2-1	chr7:16275527-16275604	NONHSAT119292

No data

Variant related genes	Relation type
ENSG00000136261	chromatin interactions
ENSG00000106524	chromatin interactions
HAS3	miRNA target sites
CDKN1B	miRNA target sites
DIS3L	miRNA target sites

Extended variants
information (count: 1108 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:1108 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17169354	chr7:16254553-16254554	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs62440394	chr7:16254633-16254634	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs73681791	chr7:16254652-16254653	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs560417738	chr7:16254664-16254665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs74599204	chr7:16254690-16254691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs370492593	chr7:16254734-16254735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs138255395	chr7:16254805-16254806	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs567613038	chr7:16254811-16254812	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs57952773	chr7:16254817-16254818	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs190551995	chr7:16254874-16254875	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs571785000	chr7:16254879-16254880	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs538875764	chr7:16254898-16254899	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs566873647	chr7:16254973-16254974	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs386710723	chr7:16254995-16254996	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs6976343	chr7:16254996-16254997	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs555439306	chr7:16255008-16255009	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs6976895	chr7:16255062-16255063	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs180833357	chr7:16255072-16255073	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs184898540	chr7:16255083-16255084	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs556518306	chr7:16255084-16255085	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs188204824	chr7:16255107-16255108	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs544905161	chr7:16255140-16255141	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs181064908	chr7:16255151-16255152	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs56161298	chr7:16255162-16255163	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs537492708	chr7:16255177-16255178	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs149643676	chr7:16255211-16255212	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs367580419	chr7:16255254-16255255	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs6959183	chr7:16255264-16255265	Active TSS Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs186444806	chr7:16255294-16255295	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs550029142	chr7:16255299-16255300	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs6977264	chr7:16255316-16255317	Active TSS Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs143371731	chr7:16255322-16255323	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs147994229	chr7:16255339-16255340	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs547718974	chr7:16255340-16255341	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs566549807	chr7:16255363-16255364	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs533829191	chr7:16255434-16255435	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs28617534	chr7:16255439-16255440	Active TSS Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs567241343	chr7:16255506-16255507	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs191739838	chr7:16255511-16255512	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs556402809	chr7:16255527-16255528	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs539249423	chr7:16255545-16255546	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs183570300	chr7:16255563-16255564	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs566672701	chr7:16255595-16255596	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs113157888	chr7:16255599-16255600	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs4389828	chr7:16255602-16255603	Active TSS Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs572211311	chr7:16255610-16255611	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs78374272	chr7:16255641-16255642	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs376477998	chr7:16255668-16255669	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs201599524	chr7:16255673-16255674	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs187344556	chr7:16255675-16255676	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Melanoma	17363583	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	19242612	CNVD
Autism	18414403	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21858162	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Heart disease	21282601	CNVD
Rubinstein-Taybi syndrome	22470819	CNVD
Alzheimer''s disease	22166940	CNVD
Abnormal phenotypes	18644119	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Bladder cancer	21909424	CNVD
Cancer	21183584	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	19805367	CNVD
Autism	20808228	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:16241400-16256400	Weak transcription	Left Ventricle	heart
2	chr7:16250200-16275800	Weak transcription	Pancreas	Pancrea
3	chr7:16254800-16255200	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr7:16254800-16255400	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr7:16255000-16255800	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr7:16255200-16256400	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr7:16255800-16256000	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr7:16255800-16256000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
9	chr7:16255800-16256200	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr7:16256000-16256200	Active TSS	iPS-15b Cell Line	embryonic stem cell
11	chr7:16262600-16263000	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr7:16262600-16263400	Enhancers	Primary T cells from cord blood	blood
13	chr7:16262600-16263400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr7:16262600-16263800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr7:16262600-16264200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr7:16262600-16264400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr7:16262600-16264800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
18	chr7:16263000-16263400	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr7:16263000-16264200	Enhancers	Primary T killer memory cells from peripheral blood	blood
20	chr7:16263200-16264200	Enhancers	Primary T helper naive cells from peripheral blood	blood
21	chr7:16263200-16264200	Enhancers	Dnd41	blood
22	chr7:16263400-16263800	Active TSS	Primary T cells from cord blood	blood
23	chr7:16263400-16264200	Enhancers	Primary T helper cells fromperipheralblood	blood
24	chr7:16263600-16263800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr7:16263800-16264200	Flanking Active TSS	Primary T cells from cord blood	blood
26	chr7:16263800-16264200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr7:16263800-16264200	Active TSS	Osteobl	bone
28	chr7:16264200-16264400	Enhancers	Primary T cells from cord blood	blood
29	chr7:16269800-16271200	ZNF genes & repeats	Liver	Liver
30	chr7:16270000-16271200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr7:16270200-16271200	ZNF genes & repeats	Fetal Lung	lung
32	chr7:16270400-16270600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr7:16270400-16270800	ZNF genes & repeats	Left Ventricle	heart
34	chr7:16270400-16272200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
35	chr7:16270400-16272200	ZNF genes & repeats	Ovary	ovary
36	chr7:16270400-16272200	ZNF genes & repeats	Psoas Muscle	Psoas
37	chr7:16270800-16273400	ZNF genes & repeats	K562	blood
38	chr7:16271200-16273200	Weak transcription	Fetal Lung	lung
39	chr7:16271600-16272200	ZNF genes & repeats	Liver	Liver
40	chr7:16272000-16272200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
41	chr7:16272200-16272800	Weak transcription	Ovary	ovary
42	chr7:16272200-16272800	Weak transcription	Psoas Muscle	Psoas
43	chr7:16272200-16276600	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr7:16272200-16276800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr7:16272800-16273000	Enhancers	Primary T cells from cord blood	blood
46	chr7:16273000-16274200	Weak transcription	Primary T cells from cord blood	blood
47	chr7:16273200-16273400	Enhancers	Fetal Lung	lung
48	chr7:16273400-16274200	Weak transcription	Fetal Lung	lung
49	chr7:16273400-16274200	Weak transcription	K562	blood
50	chr7:16274200-16274800	Enhancers	Primary T cells from cord blood	blood

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