Variant report

Variant	esv3362988
Chromosome Location	chr16:70940733-70942857
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:70926767..70929774-chr16:70940233..70943239,3	K562	blood:
2	chr16:70939686..70942468-chr16:70993534..70995760,3	MCF-7	breast:
3	chr16:70927593..70929774-chr16:70940233..70943216,2	K562	blood:
4	chr16:70941298..70941798-chr6:91092581..91093084,2	Hela-S3	cervix:

Extended variants
information (count: 92 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:92 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371280879	chr16:70940747-70940748	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs375514493	chr16:70940827-70940828	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs1798489	chr16:70940870-70940871	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs532965203	chr16:70940894-70940895	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs112626498	chr16:70940895-70940896	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs529107126	chr16:70940980-70940981	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs9935457	chr16:70941031-70941032	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs1798488	chr16:70941067-70941068	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs530747726	chr16:70941076-70941077	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs543393304	chr16:70941083-70941084	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs1798487	chr16:70941093-70941094	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs568410463	chr16:70941106-70941107	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs535935975	chr16:70941268-70941269	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs200420917	chr16:70941271-70941272	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs376087083	chr16:70941290-70941291	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs368950142	chr16:70941316-70941317	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs202224164	chr16:70941318-70941319	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs200410378	chr16:70941362-70941363	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs113656574	chr16:70941364-70941365	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs200593817	chr16:70941377-70941378	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs201896117	chr16:70941378-70941379	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs566246383	chr16:70941449-70941450	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs540050976	chr16:70941484-70941485	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs558420833	chr16:70941488-70941489	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs576787960	chr16:70941507-70941508	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs543808041	chr16:70941510-70941511	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs1798486	chr16:70941523-70941524	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs555332195	chr16:70941551-70941552	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs573563795	chr16:70941572-70941573	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs541076248	chr16:70941582-70941583	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs376675911	chr16:70941587-70941588	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs191001028	chr16:70941613-70941614	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs1798485	chr16:70941620-70941621	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs532929283	chr16:70941647-70941648	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs544788859	chr16:70941704-70941705	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs563174446	chr16:70941727-70941728	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs552085658	chr16:70941754-70941755	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs201227615	chr16:70941828-70941829	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs530713437	chr16:70941839-70941840	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs549051376	chr16:70941840-70941841	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs377348678	chr16:70941868-70941869	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs868748	chr16:70941888-70941889	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs12102709	chr16:70941929-70941930	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs885576	chr16:70941963-70941964	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs529290866	chr16:70941968-70941969	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs547833769	chr16:70941969-70941970	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs566160823	chr16:70941975-70941976	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs183315047	chr16:70941985-70941986	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs1394581	chr16:70942030-70942031	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs558380430	chr16:70942037-70942038	Weak transcription 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
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
Hepatocellular carcinoma	16750200	CNVD
Medulloblastoma	16783165	CNVD
Neuroblastoma	21899760	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	18628472	CNVD
Breast cancer	21806811	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21509527	CNVD
Melanoma	22183965	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Neuroblastoma	18923524	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70922600-70949400	Weak transcription	Pancreas	Pancrea
2	chr16:70934200-70949200	Weak transcription	Fetal Intestine Small	intestine
3	chr16:70935000-70944400	Weak transcription	Fetal Intestine Large	intestine
4	chr16:70937000-70943000	Strong transcription	Fetal Brain Female	brain
5	chr16:70937400-70943000	Strong transcription	Brain Anterior Caudate	brain
6	chr16:70937800-70941400	Weak transcription	Fetal Stomach	stomach
7	chr16:70937800-70947600	Weak transcription	Fetal Brain Male	brain
8	chr16:70938000-70943400	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr16:70938000-70949400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr16:70938200-70942400	Weak transcription	Brain Angular Gyrus	brain
11	chr16:70938200-70949800	Weak transcription	Brain Substantia Nigra	brain
12	chr16:70938400-70944600	Weak transcription	Brain Hippocampus Middle	brain
13	chr16:70940000-70941000	Weak transcription	Brain Cingulate Gyrus	brain
14	chr16:70940000-70943000	Strong transcription	Brain Inferior Temporal Lobe	brain
15	chr16:70940400-70943000	Strong transcription	Brain Germinal Matrix	brain
16	chr16:70940600-70941200	Weak transcription	Stomach Smooth Muscle	stomach
17	chr16:70940600-70942400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr16:70941000-70941400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr16:70941000-70941400	Strong transcription	Brain Cingulate Gyrus	brain
20	chr16:70941200-70942800	Strong transcription	Stomach Smooth Muscle	stomach
21	chr16:70941400-70941600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr16:70941400-70942800	Strong transcription	Fetal Stomach	stomach
23	chr16:70941400-70951400	Weak transcription	Brain Cingulate Gyrus	brain
24	chr16:70941600-70941800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr16:70941800-70942600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
26	chr16:70942200-70942600	Active TSS	Spleen	Spleen
27	chr16:70942400-70942600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr16:70942400-70943000	Strong transcription	Brain Angular Gyrus	brain
29	chr16:70942600-70943000	Enhancers	Spleen	Spleen
30	chr16:70942600-70949200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr16:70942800-70943000	ZNF genes & repeats	Fetal Stomach	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links