Variant report

Variant	esv3352594
Chromosome Location	chr16:74531601-74533499
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 78 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:78 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551637417	chr16:74531627-74531628	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs111875551	chr16:74531631-74531632	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs140533281	chr16:74531639-74531640	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs190749309	chr16:74531685-74531686	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs530536113	chr16:74531770-74531771	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs180742928	chr16:74531830-74531831	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs376034013	chr16:74531834-74531835	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs150038310	chr16:74531924-74531925	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs185149609	chr16:74531956-74531957	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs145488761	chr16:74531982-74531983	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs189958511	chr16:74532044-74532045	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs546732746	chr16:74532053-74532054	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs371013980	chr16:74532068-74532069	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs566775218	chr16:74532134-74532135	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs375597622	chr16:74532162-74532163	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs181218735	chr16:74532175-74532176	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs552619152	chr16:74532262-74532263	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs148849938	chr16:74532265-74532266	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs532184656	chr16:74532281-74532282	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs71158520	chr16:74532332-74532333	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs59891658	chr16:74532346-74532347	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs150516600	chr16:74532347-74532348	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs60042118	chr16:74532349-74532350	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs58131741	chr16:74532350-74532351	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs61033032	chr16:74532365-74532366	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs376885681	chr16:74532366-74532367	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs56885456	chr16:74532371-74532372	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs2868043	chr16:74532372-74532373	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs2868042	chr16:74532385-74532386	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs538219693	chr16:74532407-74532408	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs554808616	chr16:74532408-74532409	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs574864678	chr16:74532474-74532475	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs1814302	chr16:74532490-74532491	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs554298855	chr16:74532537-74532538	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs9788852	chr16:74532561-74532562	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs371500121	chr16:74532589-74532590	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs576182188	chr16:74532668-74532669	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs562827249	chr16:74532670-74532671	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs574923437	chr16:74532679-74532680	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs186763284	chr16:74532699-74532700	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs374491429	chr16:74532700-74532701	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs144853348	chr16:74532737-74532738	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs370650551	chr16:74532766-74532767	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs386385065	chr16:74532786-74532787	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs57372225	chr16:74532787-74532788	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs529746660	chr16:74532812-74532813	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs566663786	chr16:74532847-74532848	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs546499652	chr16:74532885-74532886	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs114617853	chr16:74532917-74532918	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs532329692	chr16:74532948-74532949	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

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	21364760	CNVD
Breast cancer	21806811	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21509527	CNVD
Melanoma	22183965	CNVD
small cell lung cancer	20016488	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
Epilepsy	20502679	CNVD
Schizophrenia	23813976	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:74480400-74531800	Strong transcription	Primary T helper cells fromperipheralblood	blood
2	chr16:74484400-74532200	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr16:74485600-74542600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr16:74498800-74544400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr16:74499200-74539200	Strong transcription	Primary B cells from peripheral blood	blood
6	chr16:74503800-74537200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr16:74507000-74535400	Weak transcription	Psoas Muscle	Psoas
8	chr16:74508600-74544000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr16:74513400-74533800	Strong transcription	HepG2	liver
10	chr16:74515200-74535400	Weak transcription	Stomach Mucosa	stomach
11	chr16:74518600-74535400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr16:74519000-74533800	Strong transcription	Primary T cells fromperipheralblood	blood
13	chr16:74521400-74533800	Strong transcription	Primary T cells from cord blood	blood
14	chr16:74521800-74534000	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr16:74522000-74542400	Weak transcription	NHDF-Ad	bronchial
16	chr16:74522000-74544600	Weak transcription	Right Ventricle	heart
17	chr16:74525200-74533400	Weak transcription	Brain Angular Gyrus	brain
18	chr16:74525200-74535000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr16:74525200-74535200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr16:74525200-74535200	Weak transcription	Fetal Kidney	kidney
21	chr16:74525200-74535400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr16:74525200-74535800	Weak transcription	Aorta	Aorta
23	chr16:74525200-74539600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr16:74525200-74542000	Weak transcription	K562	blood
25	chr16:74525200-74565200	Weak transcription	Fetal Brain Male	brain
26	chr16:74525400-74535400	Weak transcription	HMEC	breast
27	chr16:74525400-74537200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr16:74525400-74543000	Weak transcription	NHLF	lung
29	chr16:74525400-74561000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr16:74525400-74572200	Weak transcription	HUVEC	blood vessel
31	chr16:74526400-74544000	Weak transcription	Fetal Brain Female	brain
32	chr16:74526600-74536800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr16:74527200-74535400	Weak transcription	Pancreas	Pancrea
34	chr16:74527200-74535800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr16:74527200-74537400	Weak transcription	NHEK	skin
36	chr16:74527200-74541400	Weak transcription	Esophagus	oesophagus
37	chr16:74527200-74544600	Weak transcription	Gastric	stomach
38	chr16:74527200-74544800	Weak transcription	Ovary	ovary
39	chr16:74527200-74545800	Weak transcription	Spleen	Spleen
40	chr16:74527200-74555600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr16:74527400-74533400	Weak transcription	Brain Cingulate Gyrus	brain
42	chr16:74527400-74534800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr16:74527400-74535000	Weak transcription	Fetal Heart	heart
44	chr16:74527400-74539200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr16:74527400-74554600	Weak transcription	HSMMtube	muscle
46	chr16:74527600-74535400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr16:74527600-74537200	Weak transcription	Hela-S3	cervix
48	chr16:74527600-74537600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr16:74527800-74534200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr16:74527800-74535000	Weak transcription	Skeletal Muscle Female	skeletal muscle

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