Variant report

Variant	nsv526777
Chromosome Location	chr16:74070632-74108894
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:17)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:74072390..74076455-chr16:74084925..74088103,4	MCF-7	breast:
2	chr15:81148713..81149213-chr16:74074311..74075148,2	MCF-7	breast:
3	chr16:74076253..74078540-chr16:74083020..74085700,2	K562	blood:
4	chr16:74076253..74078540-chr16:74083020..74085700,2	K562	blood:
5	chr16:74104331..74106027-chr16:74106747..74108589,2	MCF-7	breast:
6	chr16:74070917..74074428-chr16:74076100..74081028,4	K562	blood:
7	chr16:74079958..74082316-chr16:74083747..74086462,2	MCF-7	breast:
8	chr16:74072390..74076455-chr16:74084925..74088103,4	MCF-7	breast:
9	chr16:74070917..74073817-chr16:74078438..74081028,2	K562	blood:
10	chr16:74098142..74098838-chr16:74260245..74261120,2	MCF-7	breast:
11	chr16:74070917..74073817-chr16:74078438..74081028,2	K562	blood:
12	chr16:74070917..74074428-chr16:74076100..74081028,4	K562	blood:
13	chr16:74104331..74106027-chr16:74106747..74108589,2	MCF-7	breast:
14	chr16:74097992..74098897-chr16:74141463..74142359,4	MCF-7	breast:
15	chr16:74097985..74098900-chr16:74260227..74261150,3	MCF-7	breast:
16	chr16:74079958..74082316-chr16:74083747..74086462,2	MCF-7	breast:
17	chr16:74098007..74098865-chr16:74308598..74309538,5	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CLEC18B-3	chr16:74088050-74088504	ENSG00000261404.1
2	lnc-CLEC18B-6	chr16:74106215-74106486	expReg_chr16_7681_-

No data

Extended variants
information (count: 1715 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:1715 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2716555	chr16:74070632-74070633	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs573019034	chr16:74070637-74070638	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs545219723	chr16:74070640-74070641	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs11860391	chr16:74070653-74070654	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs59586234	chr16:74070656-74070657	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs530804523	chr16:74070683-74070684	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs543998819	chr16:74070699-74070700	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs550875015	chr16:74070700-74070701	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs561093950	chr16:74070734-74070735	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs530119794	chr16:74070743-74070744	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs112157077	chr16:74070745-74070746	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs546731225	chr16:74070755-74070756	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs78370838	chr16:74070788-74070789	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs373980321	chr16:74070790-74070791	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs187609965	chr16:74070794-74070795	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs193146571	chr16:74070819-74070820	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs552339167	chr16:74070843-74070844	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs369854342	chr16:74070864-74070865	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs569128763	chr16:74070903-74070904	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs538121216	chr16:74070918-74070919	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs527959393	chr16:74070941-74070942	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs149985363	chr16:74070942-74070943	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs536238700	chr16:74070952-74070953	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs553042419	chr16:74071009-74071010	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs571855142	chr16:74071060-74071061	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs571879345	chr16:74071067-74071068	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs540715307	chr16:74071069-74071070	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs560607811	chr16:74071096-74071097	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs184940716	chr16:74071126-74071127	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs574207858	chr16:74071139-74071140	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs529642946	chr16:74071161-74071162	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs189884898	chr16:74071169-74071170	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs575412179	chr16:74071179-74071180	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs544138276	chr16:74071188-74071189	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs376486839	chr16:74071189-74071190	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs2716554	chr16:74071207-74071208	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs540226874	chr16:74071217-74071218	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs548718139	chr16:74071249-74071250	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs147654878	chr16:74071257-74071258	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs376102089	chr16:74071268-74071269	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs532449721	chr16:74071307-74071308	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs142452267	chr16:74071391-74071392	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs116588465	chr16:74071412-74071413	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs564026446	chr16:74071425-74071426	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs531933197	chr16:74071463-74071464	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs532679211	chr16:74071484-74071485	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs527325959	chr16:74071549-74071550	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs146525682	chr16:74071564-74071565	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs114121990	chr16:74071572-74071573	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs534258136	chr16:74071582-74071583	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Schizophrenia	22958593	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16702952	CNVD
Medulloblastoma	16968546	CNVD
Prostate cancer	19242612	CNVD
Cancer	22429812	CNVD
Ewing''s sarcoma	21437220	CNVD
Ewing''s sarcoma	22429812	CNVD
Melanoma	18172304	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Multiple myeloma	21628407	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	17001317	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17603634	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	17245344	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Hepatocellular carcinoma	16750200	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21806811	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21509527	CNVD
Melanoma	22183965	CNVD
small cell lung cancer	20016488	CNVD
Cancer	17160897	CNVD
Breast cancer	20409316	CNVD
Myelofibrosis	22110671	CNVD
Poland''s syndrome	22110015	CNVD
Neuroblastoma	21899760	CNVD
Liver carcinoma	19366792	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Prostate cancer	19156837	CNVD
Acute myeloid leukemia	17377590	CNVD

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:74062600-74071400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr16:74063600-74071200	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr16:74063800-74071200	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr16:74063800-74071400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr16:74064400-74086400	Weak transcription	Thymus	Thymus
6	chr16:74066600-74071000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr16:74067000-74071200	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr16:74067200-74071400	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr16:74067200-74071400	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr16:74068000-74071200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr16:74068600-74071800	Enhancers	Dnd41	blood
12	chr16:74069200-74071400	Enhancers	Fetal Thymus	thymus
13	chr16:74069600-74071200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr16:74070200-74071200	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr16:74070200-74071200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr16:74070400-74071200	Enhancers	H1 Cell Line	embryonic stem cell
17	chr16:74071000-74071200	Enhancers	H9 Cell Line	embryonic stem cell
18	chr16:74071000-74071400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
19	chr16:74071200-74072600	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr16:74071200-74073400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr16:74071400-74077000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr16:74073400-74074000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr16:74074400-74074600	Enhancers	H9 Cell Line	embryonic stem cell
24	chr16:74077000-74077200	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr16:74077200-74077800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr16:74077800-74078000	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr16:74079600-74080600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr16:74079800-74080200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr16:74080200-74080800	Enhancers	Brain Germinal Matrix	brain
30	chr16:74080400-74080800	Enhancers	Brain Anterior Caudate	brain
31	chr16:74080600-74081000	Enhancers	Brain Substantia Nigra	brain
32	chr16:74083000-74083400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr16:74085200-74087200	Enhancers	Dnd41	blood
34	chr16:74085800-74087000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr16:74085800-74088600	Enhancers	Primary hematopoietic stem cells	blood
36	chr16:74085800-74088600	Enhancers	Primary hematopoietic stem cells short term culture	blood
37	chr16:74086000-74088800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr16:74086400-74086600	Enhancers	Thymus	Thymus
39	chr16:74086400-74088400	Enhancers	Fetal Thymus	thymus
40	chr16:74086600-74087000	Weak transcription	Thymus	Thymus
41	chr16:74087000-74087400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr16:74087000-74088400	Enhancers	Thymus	Thymus
43	chr16:74087200-74088400	Flanking Active TSS	Dnd41	blood
44	chr16:74087200-74088600	Enhancers	Fetal Lung	lung
45	chr16:74087400-74088400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr16:74087400-74088400	Enhancers	Fetal Stomach	stomach
47	chr16:74087400-74089000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr16:74088400-74089000	Enhancers	Dnd41	blood
49	chr16:74089000-74089400	Flanking Active TSS	Dnd41	blood
50	chr16:74089400-74094600	ZNF genes & repeats	Dnd41	blood

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