Variant report

Variant	esv3385130
Chromosome Location	chr16:69854678-69858994
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:69848424..69850083-chr16:69853504..69855055,2	K562	blood:
2	chr16:69855648..69859422-chr16:69860178..69863349,3	K562	blood:
3	chr16:69845710..69847786-chr16:69856169..69858041,2	MCF-7	breast:

Extended variants
information (count: 179 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:179 , 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	rs572840623	chr16:69854687-69854688	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs540131555	chr16:69854692-69854693	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs568569436	chr16:69854726-69854727	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs368547603	chr16:69854728-69854729	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs374819568	chr16:69854729-69854730	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs35065241	chr16:69854759-69854760	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs576416702	chr16:69854763-69854764	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs544162759	chr16:69854764-69854765	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs562469698	chr16:69854784-69854785	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs145666924	chr16:69854804-69854805	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs533692275	chr16:69854842-69854843	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs183022932	chr16:69854850-69854851	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs560659814	chr16:69854852-69854853	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs113289098	chr16:69854864-69854865	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs12446197	chr16:69854869-69854870	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs552883111	chr16:69854896-69854897	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs373769408	chr16:69854911-69854912	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs531628228	chr16:69854927-69854928	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs550101299	chr16:69854941-69854942	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs142897655	chr16:69854976-69854977	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs535931757	chr16:69854984-69854985	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs548026174	chr16:69855005-69855006	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs371827581	chr16:69855043-69855044	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs566306959	chr16:69855056-69855057	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs187768417	chr16:69855095-69855096	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs376811434	chr16:69855105-69855106	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs200553752	chr16:69855169-69855170	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs558444386	chr16:69855177-69855178	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs577042915	chr16:69855226-69855227	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs570513424	chr16:69855229-69855230	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs74591285	chr16:69855233-69855234	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs556085323	chr16:69855243-69855244	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs117001329	chr16:69855248-69855249	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs2937127	chr16:69855261-69855262	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs560696773	chr16:69855306-69855307	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs572693810	chr16:69855310-69855311	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs2937126	chr16:69855311-69855312	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs373475591	chr16:69855318-69855319	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs8047010	chr16:69855351-69855352	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs531990836	chr16:69855406-69855407	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs549946153	chr16:69855450-69855451	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs72783195	chr16:69855498-69855499	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs201804554	chr16:69855626-69855627	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs557543615	chr16:69855628-69855629	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs568661668	chr16:69855644-69855645	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs192389907	chr16:69855672-69855673	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs182996580	chr16:69855680-69855681	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs150663613	chr16:69855712-69855713	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs556483425	chr16:69855729-69855730	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs187740652	chr16:69855740-69855741	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
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
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Prostate cancer	16573809	CNVD
Chordoma	18071362	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 myeloid leukemia	16864856	CNVD
Infiltrating lobular breast cancer	19191266	CNVD
T-cell lymphomas	19863542	CNVD
small cell lung cancer	20016488	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Hepatocellular carcinoma	16750200	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21611746	CNVD
Multiple myeloma	17550852	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Neuroblastoma	21899760	CNVD
Bladder cancer	21909424	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	18628472	CNVD
Breast cancer	21806811	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:354 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:69807200-69854800	Weak transcription	Psoas Muscle	Psoas
2	chr16:69822400-69854800	Weak transcription	Stomach Mucosa	stomach
3	chr16:69823800-69874800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr16:69830200-69856600	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr16:69830600-69857600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr16:69830600-69864200	Weak transcription	Colon Smooth Muscle	Colon
7	chr16:69830600-69867000	Weak transcription	Right Ventricle	heart
8	chr16:69831000-69854800	Weak transcription	Aorta	Aorta
9	chr16:69831000-69856400	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr16:69832400-69858400	Strong transcription	Primary neutrophils fromperipheralblood	blood
11	chr16:69833200-69854800	Weak transcription	NH-A	brain
12	chr16:69833800-69854800	Weak transcription	HSMM	muscle
13	chr16:69833800-69854800	Weak transcription	HSMMtube	muscle
14	chr16:69833800-69857600	Weak transcription	Small Intestine	intestine
15	chr16:69833800-69864400	Weak transcription	Rectal Smooth Muscle	rectum
16	chr16:69833800-69874600	Weak transcription	Dnd41	blood
17	chr16:69833800-69875600	Weak transcription	NHEK	skin
18	chr16:69834000-69855000	Weak transcription	Brain Germinal Matrix	brain
19	chr16:69834000-69910600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr16:69834200-69857800	Weak transcription	Left Ventricle	heart
21	chr16:69834200-69892200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr16:69834400-69854800	Weak transcription	Brain Angular Gyrus	brain
23	chr16:69834400-69854800	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr16:69836400-69867400	Weak transcription	Colonic Mucosa	Colon
25	chr16:69836800-69864200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr16:69836800-69864400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr16:69837000-69905600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr16:69837800-69864600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr16:69838600-69873000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr16:69838800-69864400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr16:69838800-69874400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr16:69839400-69854800	Weak transcription	Fetal Muscle Trunk	muscle
33	chr16:69842000-69857200	Weak transcription	GM12878-XiMat	blood
34	chr16:69843400-69854800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr16:69844200-69855000	Weak transcription	Right Atrium	heart
36	chr16:69844200-69855400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr16:69844200-69863000	Weak transcription	Esophagus	oesophagus
38	chr16:69846600-69874400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr16:69846600-69875200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr16:69848400-69854800	Weak transcription	Ovary	ovary
41	chr16:69848400-69855000	Weak transcription	Placenta	Placenta
42	chr16:69848800-69854800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr16:69848800-69862800	Weak transcription	Fetal Thymus	thymus
44	chr16:69849600-69857000	Strong transcription	Primary T helper cells fromperipheralblood	blood
45	chr16:69851400-69855000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr16:69851800-69855200	Strong transcription	Rectal Mucosa Donor 29	rectum
47	chr16:69851800-69855600	Strong transcription	Primary B cells from peripheral blood	blood
48	chr16:69851800-69857600	Weak transcription	Primary hematopoietic stem cells	blood
49	chr16:69852000-69854800	Weak transcription	Fetal Muscle Leg	muscle
50	chr16:69852000-69855000	Strong transcription	Fetal Stomach	stomach

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