Variant report

Variant	nsv431523
Chromosome Location	chr16:82817006-82824214
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	chr16:82800736..82802731-chr16:82823544..82826539,2	K562	blood:

Extended variants
information (count: 485 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:485 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11646019	chr16:82817006-82817007	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs577041180	chr16:82817037-82817038	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs540894833	chr16:82817038-82817039	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs559481448	chr16:82817072-82817073	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs574486301	chr16:82817095-82817096	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs541940225	chr16:82817103-82817104	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs7193633	chr16:82817112-82817113	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs556619540	chr16:82817152-82817153	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs563325264	chr16:82817161-82817162	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs16958623	chr16:82817180-82817181	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs145028582	chr16:82817203-82817204	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs565460863	chr16:82817209-82817210	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs11646849	chr16:82817251-82817252	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs11642248	chr16:82817263-82817264	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs148663466	chr16:82817267-82817268	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs575408087	chr16:82817286-82817287	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs530187164	chr16:82817287-82817288	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs11643292	chr16:82817306-82817307	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs142128724	chr16:82817323-82817324	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs147792972	chr16:82817331-82817332	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs141140016	chr16:82817365-82817366	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs185965680	chr16:82817373-82817374	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs386793122	chr16:82817433-82817434	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs62034547	chr16:82817436-82817437	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs144996814	chr16:82817494-82817495	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs79963296	chr16:82817506-82817507	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs73604831	chr16:82817534-82817535	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs147745739	chr16:82817544-82817545	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs575381955	chr16:82817550-82817551	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs561135724	chr16:82817556-82817557	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs17277145	chr16:82817569-82817570	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs111587486	chr16:82817582-82817583	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs372805656	chr16:82817587-82817588	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs12386026	chr16:82817591-82817592	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	disease
35	rs141077360	chr16:82817599-82817600	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs559757573	chr16:82817662-82817663	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs17192123	chr16:82817674-82817675	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs150269242	chr16:82817679-82817680	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs11447699	chr16:82817705-82817706	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs7192372	chr16:82817710-82817711	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs530895037	chr16:82817730-82817731	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs552838974	chr16:82817763-82817764	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs370369402	chr16:82817791-82817792	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs73604833	chr16:82817803-82817804	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs138917657	chr16:82817810-82817811	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs62034548	chr16:82817855-82817856	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs190681518	chr16:82817870-82817871	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs553241205	chr16:82817880-82817881	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs4783271	chr16:82817885-82817886	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs148976199	chr16:82817886-82817887	Weak transcription Strong transcription Enhancers Genic enhancers	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
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	21806811	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Autism	21865298	CNVD
Non-small cell lung cancer	21829676	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16461572	CNVD
Melanoma	20688739	CNVD
Myelofibrosis	22110671	CNVD
Alveolar capillary dysplasia	19500772	CNVD
VACTERL syndrome	21315191	CNVD
T-cell lymphomas	19863542	CNVD
Developmental delay	19490664	CNVD
Neuroblastoma	18923191	CNVD
Adrenocortical carcinoma	18281524	CNVD
Autism	20531469	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:82805600-82821600	Weak transcription	NHEK	skin
2	chr16:82807200-82817800	Weak transcription	HMEC	breast
3	chr16:82808000-82824800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr16:82810600-82834800	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr16:82810800-82821400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr16:82812000-82821600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr16:82812800-82817200	Enhancers	Psoas Muscle	Psoas
8	chr16:82813000-82817400	Enhancers	Right Ventricle	heart
9	chr16:82813800-82819600	Enhancers	Fetal Muscle Leg	muscle
10	chr16:82814400-82819800	Enhancers	Primary B cells from peripheral blood	blood
11	chr16:82815000-82817200	Enhancers	Colon Smooth Muscle	Colon
12	chr16:82815200-82817400	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr16:82815400-82817400	Enhancers	Fetal Intestine Small	intestine
14	chr16:82815600-82817200	Enhancers	H1 Cell Line	embryonic stem cell
15	chr16:82815600-82817200	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr16:82815600-82817200	Enhancers	Left Ventricle	heart
17	chr16:82815600-82817200	Enhancers	Right Atrium	heart
18	chr16:82815600-82817200	Enhancers	HSMM	muscle
19	chr16:82815800-82817200	Enhancers	Fetal Muscle Trunk	muscle
20	chr16:82815800-82821800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr16:82815800-82834600	Weak transcription	HUVEC	blood vessel
22	chr16:82816000-82817800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr16:82816000-82818000	Weak transcription	Colonic Mucosa	Colon
24	chr16:82816200-82817200	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr16:82816200-82817200	Enhancers	Fetal Stomach	stomach
26	chr16:82816200-82817200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
27	chr16:82816200-82817400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr16:82816400-82817200	Enhancers	Fetal Intestine Large	intestine
29	chr16:82816400-82817200	Enhancers	Gastric	stomach
30	chr16:82816400-82817200	Enhancers	Pancreas	Pancrea
31	chr16:82816400-82818000	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr16:82816400-82818000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr16:82816600-82817400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr16:82816600-82818600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr16:82816800-82817200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
36	chr16:82816800-82817200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
37	chr16:82816800-82817400	Enhancers	Brain Angular Gyrus	brain
38	chr16:82816800-82817800	Weak transcription	Spleen	Spleen
39	chr16:82817000-82817200	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr16:82817000-82817200	Active TSS	Rectal Smooth Muscle	rectum
41	chr16:82817000-82817200	Enhancers	Sigmoid Colon	Sigmoid Colon
42	chr16:82817000-82817200	Enhancers	Stomach Smooth Muscle	stomach
43	chr16:82817000-82817400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
44	chr16:82817000-82818000	Weak transcription	Aorta	Aorta
45	chr16:82817000-82818000	Weak transcription	Brain Germinal Matrix	brain
46	chr16:82817000-82818200	Enhancers	Duodenum Mucosa	Duodenum
47	chr16:82817000-82819000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr16:82817000-82821600	Weak transcription	HSMMtube	muscle
49	chr16:82817200-82817400	Enhancers	Skeletal Muscle Male	skeletal muscle
50	chr16:82817200-82817800	Weak transcription	Left Ventricle	heart

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