Variant report

Variant	esv3433379
Chromosome Location	chr16:69819981-69820393
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr16:69820094-69820255	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:69795431..69797350-chr16:69819161..69821145,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000252443	TF binding region
WWP2	TF binding region
ENSG00000198373	chromatin interactions

Extended variants
information (count: 16 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145587762	chr16:69819987-69819988	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs55863174	chr16:69819996-69819997	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs66601463	chr16:69820041-69820042	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs113004348	chr16:69820052-69820053	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs370578049	chr16:69820054-69820055	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs148899502	chr16:69820107-69820108	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs566510897	chr16:69820150-69820151	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs533547703	chr16:69820152-69820153	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs558655983	chr16:69820169-69820170	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs183249484	chr16:69820264-69820265	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs111657053	chr16:69820284-69820285	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs556346426	chr16:69820294-69820295	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs188553166	chr16:69820331-69820332	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs143617856	chr16:69820333-69820334	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs560613341	chr16:69820334-69820335	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs138189714	chr16:69820384-69820385	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	21611746	CNVD
Multiple myeloma	17550852	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Breast cancer	22522925	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	21364760	CNVD
Bladder cancer	21909424	CNVD
Melanoma	20877625	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	18628472	CNVD
Breast cancer	21806811	CNVD

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:69797400-69821200	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr16:69797600-69853400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr16:69797800-69821200	Weak transcription	Rectal Smooth Muscle	rectum
4	chr16:69802800-69821400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr16:69803000-69823400	Weak transcription	Right Ventricle	heart
6	chr16:69803400-69830200	Weak transcription	Fetal Heart	heart
7	chr16:69806800-69821000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr16:69806800-69821200	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr16:69806800-69830200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr16:69806800-69833000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr16:69807000-69820800	Weak transcription	Spleen	Spleen
12	chr16:69807000-69821000	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr16:69807000-69821400	Weak transcription	Colonic Mucosa	Colon
14	chr16:69807000-69821600	Weak transcription	Stomach Mucosa	stomach
15	chr16:69807000-69821800	Weak transcription	Brain Substantia Nigra	brain
16	chr16:69807000-69822200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr16:69807000-69822400	Weak transcription	Fetal Kidney	kidney
18	chr16:69807000-69830200	Weak transcription	NHDF-Ad	bronchial
19	chr16:69807000-69832000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr16:69807200-69821200	Weak transcription	Brain Angular Gyrus	brain
21	chr16:69807200-69830200	Weak transcription	Osteobl	bone
22	chr16:69807200-69832600	Weak transcription	NHLF	lung
23	chr16:69807200-69832800	Weak transcription	Pancreas	Pancrea
24	chr16:69807200-69852400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr16:69807200-69852800	Weak transcription	Hela-S3	cervix
26	chr16:69807200-69854800	Weak transcription	Psoas Muscle	Psoas
27	chr16:69807400-69821400	Weak transcription	Ovary	ovary
28	chr16:69807600-69821200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr16:69808000-69833200	Weak transcription	HSMM	muscle
30	chr16:69809200-69821800	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr16:69809600-69820800	Weak transcription	Brain Hippocampus Middle	brain
32	chr16:69809800-69821800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr16:69810000-69821200	Weak transcription	Stomach Smooth Muscle	stomach
34	chr16:69810000-69822400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr16:69810000-69839800	Weak transcription	HUVEC	blood vessel
36	chr16:69810200-69820800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr16:69810200-69820800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr16:69810200-69820800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr16:69810200-69820800	Weak transcription	Fetal Muscle Trunk	muscle
40	chr16:69810200-69822200	Weak transcription	Small Intestine	intestine
41	chr16:69810200-69831000	Weak transcription	NHEK	skin
42	chr16:69810200-69833400	Weak transcription	Dnd41	blood
43	chr16:69810400-69820600	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chr16:69810400-69820800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr16:69810400-69820800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr16:69810400-69821000	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr16:69810400-69821400	Weak transcription	Brain Cingulate Gyrus	brain
48	chr16:69810400-69821600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr16:69810400-69821600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr16:69810400-69830200	Weak transcription	Colon Smooth Muscle	Colon

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