Variant report

Variant	esv33157
Chromosome Location	chr16:69940410-69943569
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	chr16:69934758..69936318-chr16:69938966..69941427,2	K562	blood:
2	chr16:69932903..69936728-chr16:69937454..69941070,4	K562	blood:

Extended variants
information (count: 157 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:157 , 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	rs528085110	chr16:69940450-69940451	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs377056658	chr16:69940455-69940456	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs141903250	chr16:69940478-69940479	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs11859668	chr16:69940479-69940480	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs139890076	chr16:69940482-69940483	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs149839001	chr16:69940493-69940494	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs192618233	chr16:69940594-69940595	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs200393839	chr16:69940642-69940643	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs146392449	chr16:69940643-69940644	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs533953012	chr16:69940647-69940648	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs558883980	chr16:69940650-69940651	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs376590618	chr16:69940651-69940652	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs577294450	chr16:69940660-69940661	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs369106756	chr16:69940674-69940675	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs550800517	chr16:69940689-69940690	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs139780091	chr16:69940727-69940728	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs534446629	chr16:69940751-69940752	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs200211230	chr16:69940752-69940753	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs56182388	chr16:69940757-69940758	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs183193523	chr16:69940758-69940759	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs112078280	chr16:69940780-69940781	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs542804447	chr16:69940859-69940860	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs561183138	chr16:69940861-69940862	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs112870497	chr16:69940935-69940936	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs118085733	chr16:69940936-69940937	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs191394519	chr16:69940962-69940963	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs532149900	chr16:69940980-69940981	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs550256189	chr16:69941003-69941004	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs61664474	chr16:69941004-69941005	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs577844582	chr16:69941008-69941009	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs148843745	chr16:69941015-69941016	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs567073560	chr16:69941059-69941060	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs534484773	chr16:69941069-69941070	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs142572773	chr16:69941097-69941098	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs570814068	chr16:69941098-69941099	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs535108475	chr16:69941101-69941102	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs150973729	chr16:69941159-69941160	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs12102498	chr16:69941203-69941204	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs575337323	chr16:69941214-69941215	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs574953044	chr16:69941231-69941232	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs543966328	chr16:69941251-69941252	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs536472503	chr16:69941266-69941267	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs564704407	chr16:69941269-69941270	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs573092033	chr16:69941270-69941271	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs578185366	chr16:69941323-69941324	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs140832427	chr16:69941324-69941325	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs372240674	chr16:69941325-69941326	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs576774738	chr16:69941366-69941367	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs75255448	chr16:69941373-69941374	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs183963432	chr16:69941385-69941386	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
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
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:243 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:69904200-69951200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr16:69907600-69942600	Weak transcription	Small Intestine	intestine
3	chr16:69908200-69943000	Weak transcription	Right Ventricle	heart
4	chr16:69911400-69970200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr16:69913600-69950400	Weak transcription	A549	lung
6	chr16:69923600-69942600	Weak transcription	Pancreas	Pancrea
7	chr16:69923600-69944800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr16:69923800-69942400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr16:69923800-69949200	Weak transcription	Dnd41	blood
10	chr16:69923800-69951800	Weak transcription	GM12878-XiMat	blood
11	chr16:69924000-69942600	Weak transcription	NHEK	skin
12	chr16:69924400-69965000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr16:69924600-69942600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr16:69925000-69942400	Weak transcription	Esophagus	oesophagus
15	chr16:69925000-69942600	Weak transcription	Colonic Mucosa	Colon
16	chr16:69925000-69942800	Weak transcription	Fetal Lung	lung
17	chr16:69925400-69951200	Weak transcription	Fetal Kidney	kidney
18	chr16:69925800-69942800	Weak transcription	Stomach Smooth Muscle	stomach
19	chr16:69926000-69942600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr16:69926000-69942600	Weak transcription	Left Ventricle	heart
21	chr16:69927200-69942400	Weak transcription	Fetal Stomach	stomach
22	chr16:69927400-69942600	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr16:69927400-69950200	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr16:69928800-69942400	Weak transcription	Liver	Liver
25	chr16:69928800-69942400	Weak transcription	Fetal Muscle Trunk	muscle
26	chr16:69928800-69942600	Weak transcription	Fetal Brain Female	brain
27	chr16:69929200-69942400	Weak transcription	Brain Anterior Caudate	brain
28	chr16:69929600-69944600	Weak transcription	Gastric	stomach
29	chr16:69929800-69942600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr16:69930000-69942400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr16:69930000-69942400	Weak transcription	Fetal Thymus	thymus
32	chr16:69930400-69942400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr16:69930400-69942400	Weak transcription	Thymus	Thymus
34	chr16:69930400-69942600	Weak transcription	Brain Substantia Nigra	brain
35	chr16:69930800-69944600	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr16:69931000-69942800	Weak transcription	Brain Hippocampus Middle	brain
37	chr16:69934800-69946600	Strong transcription	Primary T cells from cord blood	blood
38	chr16:69934800-69946800	Strong transcription	Primary T cells fromperipheralblood	blood
39	chr16:69934800-69946800	Strong transcription	Monocytes-CD14+_RO01746	blood
40	chr16:69935200-69942600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr16:69935200-69942600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr16:69935200-69946000	Strong transcription	Primary B cells from cord blood	blood
43	chr16:69935200-69955000	Weak transcription	Colon Smooth Muscle	Colon
44	chr16:69935400-69951000	Weak transcription	Hela-S3	cervix
45	chr16:69935800-69942400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr16:69936600-69942400	Weak transcription	Primary T helper cells PMA-I stimulated	--
47	chr16:69936600-69942600	Weak transcription	Rectal Smooth Muscle	rectum
48	chr16:69936800-69941000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr16:69936800-69941000	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr16:69936800-69941600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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