Variant report

Variant	nsv974813
Chromosome Location	chr16:48610747-48612080
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	chr16:48611677..48614965-chr16:48642822..48645500,3	MCF-7	breast:
2	chr16:48604843..48606957-chr16:48609815..48611757,2	K562	blood:

Variant related genes	Relation type
ENSG00000102921	chromatin interactions

Extended variants
information (count: 57 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:57 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376542607	chr16:48610768-48610769	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs147973574	chr16:48610776-48610777	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs543237658	chr16:48610780-48610781	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs374320704	chr16:48610783-48610784	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs563514291	chr16:48610784-48610785	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs76160650	chr16:48610811-48610812	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs368658816	chr16:48610823-48610824	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs182960261	chr16:48610828-48610829	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs533614706	chr16:48610834-48610835	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs75230801	chr16:48610864-48610865	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs3848319	chr16:48610933-48610934	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs117507319	chr16:48610935-48610936	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs571590812	chr16:48610953-48610954	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs530821730	chr16:48611008-48611009	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs537761939	chr16:48611034-48611035	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs142015309	chr16:48611040-48611041	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs567848814	chr16:48611138-48611139	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs188402799	chr16:48611170-48611171	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs150259832	chr16:48611187-48611188	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs572216949	chr16:48611199-48611200	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs144319249	chr16:48611226-48611227	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs564282378	chr16:48611227-48611228	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs528249064	chr16:48611233-48611234	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs546399678	chr16:48611248-48611249	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs541004409	chr16:48611258-48611259	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs139244165	chr16:48611305-48611306	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs568114771	chr16:48611353-48611354	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs577825671	chr16:48611394-48611395	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs543723800	chr16:48611422-48611423	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs62060271	chr16:48611447-48611448	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs563295487	chr16:48611498-48611499	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs143206140	chr16:48611513-48611514	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs542501001	chr16:48611516-48611517	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs559420765	chr16:48611520-48611521	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs369847639	chr16:48611521-48611522	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs551324236	chr16:48611532-48611533	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs80036337	chr16:48611558-48611559	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs189763983	chr16:48611560-48611561	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs551264363	chr16:48611562-48611563	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs139964843	chr16:48611609-48611610	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs182169810	chr16:48611693-48611694	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs560082504	chr16:48611718-48611719	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs565765088	chr16:48611723-48611724	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs149570548	chr16:48611732-48611733	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs557759226	chr16:48611734-48611735	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs371371176	chr16:48611736-48611737	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs543313223	chr16:48611753-48611754	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs528917176	chr16:48611798-48611799	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs557213396	chr16:48611818-48611819	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs573901908	chr16:48611903-48611904	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Wilms tumour	21544195	CNVD
Cancer	20164920	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	21339820	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
Renal cell carcinoma	18765545	CNVD
Sudden cardiac death	19188705	CNVD
Multiple myeloma	16616336	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	21364760	CNVD
Ewing''s sarcoma	17952124	CNVD
Myelofibrosis	22110671	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Bladder cancer	21909424	CNVD
Colorectal cancer	19359472	CNVD
Olfactory neuroblastoma	18408657	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	17001317	CNVD
Breast cancer	17133270	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Disease	22140031	CNVD
Non-syndromic sensorineural hearing loss	22140031	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:48583800-48617800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr16:48591200-48611400	Weak transcription	Fetal Intestine Small	intestine
3	chr16:48591200-48611600	Weak transcription	Fetal Brain Female	brain
4	chr16:48591400-48617200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr16:48592600-48613400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr16:48592800-48611000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr16:48594000-48617800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr16:48595200-48624000	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr16:48596000-48613600	Weak transcription	Fetal Intestine Large	intestine
10	chr16:48596000-48624400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr16:48596200-48610800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr16:48596200-48612800	Weak transcription	Fetal Muscle Trunk	muscle
13	chr16:48596200-48612800	Weak transcription	Placenta	Placenta
14	chr16:48596200-48615200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr16:48596400-48611800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr16:48596400-48613400	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr16:48596400-48615000	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr16:48596400-48617200	Weak transcription	NH-A	brain
19	chr16:48596600-48612200	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr16:48596800-48624400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr16:48602000-48611600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr16:48603000-48614200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr16:48603400-48611000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr16:48604000-48611400	Weak transcription	Fetal Stomach	stomach
25	chr16:48604400-48611800	Weak transcription	Fetal Muscle Leg	muscle
26	chr16:48604800-48611600	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr16:48605000-48613000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr16:48605000-48613200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr16:48605000-48630200	Weak transcription	Spleen	Spleen
30	chr16:48605200-48612400	Enhancers	Primary T helper cells fromperipheralblood	blood
31	chr16:48605400-48613400	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr16:48606000-48611200	Enhancers	Primary T cells from cord blood	blood
33	chr16:48606200-48611600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
34	chr16:48606800-48611600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr16:48607000-48613400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
36	chr16:48607600-48611000	Enhancers	Liver	Liver
37	chr16:48607800-48611600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr16:48607800-48613000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr16:48608000-48611800	Enhancers	Primary T killer memory cells from peripheral blood	blood
40	chr16:48608200-48613000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
41	chr16:48608200-48613000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr16:48608400-48610800	Enhancers	NHEK	skin
43	chr16:48608400-48612200	Enhancers	Left Ventricle	heart
44	chr16:48608600-48612200	Enhancers	HMEC	breast
45	chr16:48608600-48613200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
46	chr16:48608600-48613600	Enhancers	Primary T helper naive cells from peripheral blood	blood
47	chr16:48608800-48611000	Enhancers	Ovary	ovary
48	chr16:48608800-48611200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr16:48608800-48611600	Enhancers	Sigmoid Colon	Sigmoid Colon
50	chr16:48608800-48611600	Enhancers	Stomach Mucosa	stomach

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