Variant report

Variant	nsv9460
Chromosome Location	chr16:75475689-75479550
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr16:75468270..75471341-chr16:75474045..75476469,3	K562	blood:
2	chr16:75475003..75477361-chr16:75498145..75499811,2	MCF-7	breast:
3	chr16:75475154..75477431-chr16:75495274..75497923,2	MCF-7	breast:
4	chr16:75479224..75481746-chr16:75483426..75485775,2	MCF-7	breast:
5	chr16:75465869..75472473-chr16:75476759..75480743,8	K562	blood:
6	chr16:75465797..75470751-chr16:75474317..75478190,5	MCF-7	breast:
7	chr16:75478254..75480468-chr16:75487747..75489605,2	MCF-7	breast:
8	chr16:75474256..75476578-chr16:75479632..75482029,2	MCF-7	breast:
9	chr16:75466767..75471192-chr16:75472860..75476698,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000261717	chromatin interactions
ENSG00000153774	chromatin interactions
ENSG00000166822	chromatin interactions

Extended variants
information (count: 164 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:164 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7184596	chr16:75475692-75475693	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs141124784	chr16:75475697-75475698	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs7206780	chr16:75475704-75475705	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs150730531	chr16:75475761-75475762	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs373154464	chr16:75475793-75475794	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs568770109	chr16:75475796-75475797	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs577434791	chr16:75475800-75475801	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs375432756	chr16:75475805-75475806	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs139194291	chr16:75475813-75475814	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs556497627	chr16:75475852-75475853	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs576436897	chr16:75475853-75475854	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs149965235	chr16:75475858-75475859	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs146524305	chr16:75475881-75475882	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs139901854	chr16:75475907-75475908	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs143391105	chr16:75475914-75475915	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs370831379	chr16:75475926-75475927	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs184721910	chr16:75475945-75475946	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs533562380	chr16:75475970-75475971	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs112061383	chr16:75475991-75475992	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs148967546	chr16:75476046-75476047	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs143651498	chr16:75476053-75476054	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs28655559	chr16:75476070-75476071	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs115025642	chr16:75476077-75476078	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs35214308	chr16:75476088-75476089	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs111646066	chr16:75476111-75476112	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs566437100	chr16:75476116-75476117	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs34986641	chr16:75476181-75476182	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs397808982	chr16:75476183-75476184	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs115094379	chr16:75476215-75476216	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs371299372	chr16:75476217-75476218	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs4888425	chr16:75476363-75476364	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs376151758	chr16:75476394-75476395	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs370563293	chr16:75476402-75476403	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs4888426	chr16:75476451-75476452	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs568193034	chr16:75476484-75476485	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs569933519	chr16:75476517-75476518	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs77944625	chr16:75476528-75476529	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs74725811	chr16:75476529-75476530	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs375961963	chr16:75476530-75476531	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs11864773	chr16:75476531-75476532	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs561879274	chr16:75476532-75476533	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs556996471	chr16:75476546-75476547	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs71134717	chr16:75476549-75476550	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs59097079	chr16:75476556-75476557	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs117236502	chr16:75476604-75476605	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs369459167	chr16:75476656-75476657	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs151045989	chr16:75476689-75476690	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs572018146	chr16:75476712-75476713	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs190039586	chr16:75476715-75476716	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs557831687	chr16:75476719-75476720	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	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	21806811	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Melanoma	22183965	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:146 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75468400-75482400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr16:75468400-75482600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr16:75468400-75489400	Weak transcription	Small Intestine	intestine
4	chr16:75468600-75476800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr16:75468600-75481000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr16:75468600-75481600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr16:75468600-75482400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr16:75468600-75487800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr16:75468600-75489800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr16:75468800-75476000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr16:75468800-75478800	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr16:75468800-75479000	Weak transcription	Primary B cells from peripheral blood	blood
13	chr16:75468800-75479200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr16:75468800-75479200	Weak transcription	Left Ventricle	heart
15	chr16:75468800-75479400	Weak transcription	Fetal Intestine Large	intestine
16	chr16:75468800-75480400	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr16:75468800-75480400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr16:75468800-75480600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr16:75468800-75480600	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr16:75468800-75480600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr16:75468800-75480600	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr16:75468800-75480800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr16:75468800-75481000	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr16:75468800-75481000	Weak transcription	Primary T cells from cord blood	blood
25	chr16:75468800-75481000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr16:75468800-75481000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr16:75468800-75481000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr16:75468800-75481000	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr16:75468800-75481000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr16:75468800-75481000	Weak transcription	HSMM	muscle
31	chr16:75468800-75481400	Weak transcription	Primary hematopoietic stem cells	blood
32	chr16:75468800-75483000	Weak transcription	Stomach Smooth Muscle	stomach
33	chr16:75468800-75483200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr16:75468800-75483600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr16:75468800-75483600	Weak transcription	Adipose Nuclei	Adipose
36	chr16:75468800-75483600	Weak transcription	Hela-S3	cervix
37	chr16:75468800-75483800	Weak transcription	HSMMtube	muscle
38	chr16:75468800-75484200	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr16:75468800-75484400	Weak transcription	Brain Anterior Caudate	brain
40	chr16:75468800-75484400	Weak transcription	NHEK	skin
41	chr16:75468800-75484600	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr16:75468800-75484600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr16:75468800-75484600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr16:75468800-75484800	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr16:75468800-75484800	Weak transcription	Rectal Smooth Muscle	rectum
46	chr16:75468800-75485400	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr16:75468800-75486400	Weak transcription	Pancreas	Pancrea
48	chr16:75468800-75486400	Weak transcription	Right Atrium	heart
49	chr16:75468800-75486600	Weak transcription	HUVEC	blood vessel
50	chr16:75468800-75489200	Weak transcription	Brain Cingulate Gyrus	brain

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