Variant report

Variant	esv3313413
Chromosome Location	chr16:74470696-74471824
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:74470889..74473778-chr16:74634712..74637177,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NPIPL2-2	chr16:74468703-74470867	NONHSAT143691

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

Variant overlapped rSNPs/rCNVs (count:68 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs138780077	chr16:74470717-74470718	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
2	rs112361858	chr16:74470720-74470721	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
3	rs569282539	chr16:74470722-74470723	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
4	rs114720284	chr16:74470751-74470752	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
5	rs529970462	chr16:74470790-74470791	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
6	rs113577572	chr16:74470815-74470816	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
7	rs377187094	chr16:74470820-74470821	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
8	rs560156650	chr16:74470824-74470825	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
9	rs374886986	chr16:74470825-74470826	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
10	rs79044782	chr16:74470827-74470828	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
11	rs370820373	chr16:74470845-74470846	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
12	rs369020896	chr16:74470934-74470935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs578173184	chr16:74470935-74470936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs531803683	chr16:74470943-74470944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs548735817	chr16:74470947-74470948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs145334192	chr16:74470958-74470959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs534463075	chr16:74470961-74470962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs534387645	chr16:74470972-74470973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs575101646	chr16:74470994-74470995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs185436622	chr16:74471025-74471026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs566519988	chr16:74471026-74471027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs538616462	chr16:74471027-74471028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs558717966	chr16:74471055-74471056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs575373749	chr16:74471065-74471066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs188697683	chr16:74471068-74471069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs554701471	chr16:74471071-74471072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs563348439	chr16:74471094-74471095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs529299497	chr16:74471095-74471096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs554099829	chr16:74471103-74471104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs36010471	chr16:74471109-74471110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs375729237	chr16:74471123-74471124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs540569516	chr16:74471142-74471143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs138074110	chr16:74471153-74471154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs549085307	chr16:74471168-74471169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs373008177	chr16:74471233-74471234	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs532407530	chr16:74471241-74471242	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs545758233	chr16:74471242-74471243	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs374231709	chr16:74471281-74471282	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs542967856	chr16:74471284-74471285	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs193275524	chr16:74471337-74471338	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs11649338	chr16:74471420-74471421	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs568677887	chr16:74471451-74471452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs527876785	chr16:74471459-74471460	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs28391295	chr16:74471488-74471489	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs571144128	chr16:74471492-74471493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs538651200	chr16:74471507-74471508	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs188327185	chr16:74471511-74471512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs568975244	chr16:74471528-74471529	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs11645459	chr16:74471555-74471556	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs367655535	chr16:74471618-74471619	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:54 , 50 per page) page: 1 2

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	chr16:74463000-74480600	Weak transcription	Brain Germinal Matrix	brain
4	chr16:74463200-74472800	Weak transcription	HSMMtube	muscle
5	chr16:74464600-74475000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr16:74465600-74481600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr16:74465600-74481600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr16:74465800-74473800	Weak transcription	NHEK	skin
9	chr16:74465800-74474800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr16:74465800-74479600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr16:74465800-74480400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr16:74465800-74480400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr16:74465800-74480400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr16:74465800-74481000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr16:74466200-74474400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr16:74466200-74475000	Weak transcription	Brain Anterior Caudate	brain
17	chr16:74466600-74474400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr16:74466600-74483200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr16:74467200-74480800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr16:74467800-74483000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr16:74468200-74498400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr16:74468800-74483200	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr16:74469200-74481400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr16:74469400-74476200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr16:74469800-74471600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr16:74470000-74474800	Weak transcription	Fetal Muscle Trunk	muscle
27	chr16:74470400-74483000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr16:74470600-74470800	ZNF genes & repeats	Fetal Brain Female	brain
29	chr16:74470600-74472000	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr16:74470600-74481800	Weak transcription	Fetal Lung	lung
31	chr16:74470600-74483600	Weak transcription	Brain Cingulate Gyrus	brain
32	chr16:74470600-74484800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr16:74470800-74481800	Weak transcription	Fetal Brain Female	brain
34	chr16:74471000-74485800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr16:74471200-74473400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
36	chr16:74471200-74474000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
37	chr16:74471200-74474800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr16:74471200-74475000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr16:74471200-74479800	Weak transcription	Fetal Intestine Small	intestine
40	chr16:74471200-74483000	Weak transcription	Gastric	stomach
41	chr16:74471400-74481000	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr16:74471400-74482200	Weak transcription	Hela-S3	cervix
43	chr16:74471600-74472400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr16:74471600-74473000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
45	chr16:74471600-74473200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
46	chr16:74471600-74473400	Enhancers	Primary T helper cells fromperipheralblood	blood
47	chr16:74471600-74473600	Enhancers	Primary T cells fromperipheralblood	blood
48	chr16:74471600-74473800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
49	chr16:74471600-74474800	Weak transcription	Fetal Muscle Leg	muscle
50	chr16:74471600-74483600	Weak transcription	GM12878-XiMat	blood

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