Variant report

Variant	nsv984353
Chromosome Location	chr16:74465385-74476602
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:5)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:74470889..74473778-chr16:74634712..74637177,2	MCF-7	breast:
2	chr16:74467146..74469446-chr16:74472405..74475249,2	MCF-7	breast:
3	chr16:74467146..74469446-chr16:74472405..74475249,2	MCF-7	breast:
4	chr16:74474948..74476830-chr16:74479473..74481845,2	MCF-7	breast:
5	chr16:74472914..74474525-chr16:74638693..74640770,2	MCF-7	breast:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NPIPL2-2	chr16:74468703-74470867	NONHSAT143691
2	lnc-NPIPL2-2	chr16:74468341-74468597	ENSG00000261170.1
3	lnc-NPIPL2-4	chr16:74466397-74467374	NONHSAT143689
4	lnc-NPIPL2-2	chr16:74468341-74468506	ENSG00000261170.1
5	lnc-NPIPL2-2	chr16:74469068-74469152	ENSG00000261170.1
6	lnc-NPIPL2-2	chr16:74467395-74468696	NONHSAT143690

No data

Extended variants
information (count: 575 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:575 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532437030	chr16:74465395-74465396	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs3863435	chr16:74465396-74465397	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs569033082	chr16:74465444-74465445	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs537903571	chr16:74465462-74465463	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs548384513	chr16:74465472-74465473	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs79283389	chr16:74465508-74465509	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs11648326	chr16:74465514-74465515	Enhancers Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs554196007	chr16:74465519-74465520	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs190901915	chr16:74465564-74465565	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs538270151	chr16:74465597-74465598	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs183406302	chr16:74465598-74465599	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs562103987	chr16:74465607-74465608	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs544280599	chr16:74465616-74465617	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs73606711	chr16:74465626-74465627	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs574576231	chr16:74465629-74465630	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs540409517	chr16:74465643-74465644	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs531134348	chr16:74465650-74465651	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs560204256	chr16:74465689-74465690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs544858620	chr16:74465719-74465720	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs4888236	chr16:74465753-74465754	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs533693626	chr16:74465780-74465781	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs35288718	chr16:74465781-74465782	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs552157435	chr16:74465794-74465795	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs111788302	chr16:74465807-74465808	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs138454730	chr16:74465825-74465826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs142658939	chr16:74465851-74465852	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs568634387	chr16:74465863-74465864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs112594225	chr16:74465871-74465872	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs145962476	chr16:74465879-74465880	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs548323163	chr16:74465880-74465881	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs143386204	chr16:74465892-74465893	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs534162638	chr16:74465914-74465915	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs547935510	chr16:74465926-74465927	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs571079262	chr16:74465961-74465962	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs75138896	chr16:74465976-74465977	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs112087715	chr16:74465994-74465995	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs187689381	chr16:74466016-74466017	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs575349553	chr16:74466034-74466035	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs539197432	chr16:74466071-74466072	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs7204757	chr16:74466072-74466073	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs574441997	chr16:74466079-74466080	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs6564095	chr16:74466127-74466128	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs553886650	chr16:74466152-74466153	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs577074216	chr16:74466162-74466163	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs373170220	chr16:74466218-74466219	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs150497767	chr16:74466219-74466220	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs531623404	chr16:74466240-74466241	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs541806027	chr16:74466246-74466247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs138599578	chr16:74466251-74466252	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs527757112	chr16:74466263-74466264	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
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
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
Prostate cancer	19156837	CNVD
Acute myeloid leukemia	17377590	CNVD
Breast cancer	20409316	CNVD
Hepatocellular carcinoma	16750200	CNVD

Chromatin state (count:219 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:74455600-74480600	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr16:74460400-74479000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr16:74463000-74465400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr16:74463000-74480600	Weak transcription	Brain Germinal Matrix	brain
5	chr16:74463200-74472800	Weak transcription	HSMMtube	muscle
6	chr16:74464600-74475000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr16:74465000-74465600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr16:74465000-74465800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr16:74465000-74465800	Enhancers	HepG2	liver
10	chr16:74465000-74465800	Enhancers	HMEC	breast
11	chr16:74465200-74465400	Enhancers	A549	lung
12	chr16:74465200-74465600	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr16:74465200-74465600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr16:74465200-74465600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr16:74465200-74465800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr16:74465200-74465800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr16:74465200-74465800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr16:74465200-74465800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr16:74465200-74465800	Enhancers	NHEK	skin
20	chr16:74465400-74465600	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr16:74465400-74465800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr16:74465400-74465800	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr16:74465400-74465800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr16:74465400-74466600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr16:74465600-74465800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr16:74465600-74468000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr16:74465600-74481600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr16:74465600-74481600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr16:74465800-74469000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr16:74465800-74473800	Weak transcription	NHEK	skin
31	chr16:74465800-74474800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr16:74465800-74479600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr16:74465800-74480400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr16:74465800-74480400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr16:74465800-74480400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr16:74465800-74481000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr16:74466200-74474400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr16:74466200-74475000	Weak transcription	Brain Anterior Caudate	brain
39	chr16:74466600-74474400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr16:74466600-74483200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr16:74467200-74480800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr16:74467800-74483000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr16:74468200-74498400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
44	chr16:74468800-74483200	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr16:74469000-74469400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr16:74469200-74481400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr16:74469400-74476200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr16:74469800-74471600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr16:74470000-74474800	Weak transcription	Fetal Muscle Trunk	muscle
50	chr16:74470400-74470600	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--

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