Variant report

Variant	nsv907031
Chromosome Location	chr16:83096520-83112996
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	chr16:83110764..83113260-chr16:83114875..83116423,2	K562	blood:
2	chr16:82401256..82401986-chr16:83102060..83102714,2	MCF-7	breast:

Extended variants
information (count: 1154 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:1154 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs8046389	chr16:83096520-83096521	Genic enhancers Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
2	rs567461633	chr16:83096526-83096527	Genic enhancers Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs536332177	chr16:83096535-83096536	Genic enhancers Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs563416277	chr16:83096553-83096554	Genic enhancers Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs386364857	chr16:83096568-83096569	Genic enhancers Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs549240234	chr16:83096569-83096570	Genic enhancers Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs556367085	chr16:83096578-83096579	Genic enhancers Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs61186735	chr16:83096584-83096585	Genic enhancers Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs35395148	chr16:83096585-83096586	Genic enhancers Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs576203477	chr16:83096591-83096592	Genic enhancers Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs538979843	chr16:83096606-83096607	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs529153138	chr16:83096615-83096616	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs577570572	chr16:83096622-83096623	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs540273071	chr16:83096629-83096630	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs183226474	chr16:83096630-83096631	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs573806345	chr16:83096636-83096637	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs374852655	chr16:83096669-83096670	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs73596287	chr16:83096689-83096690	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs531490796	chr16:83096704-83096705	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs371515595	chr16:83096706-83096707	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs372390861	chr16:83096712-83096713	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs148102720	chr16:83096713-83096714	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs73596288	chr16:83096714-83096715	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs375453913	chr16:83096723-83096724	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs547805706	chr16:83096738-83096739	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs567300112	chr16:83096744-83096745	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs536370921	chr16:83096759-83096760	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs549829431	chr16:83096767-83096768	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs550884803	chr16:83096798-83096799	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs569926575	chr16:83096804-83096805	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs369793995	chr16:83096814-83096815	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs376707173	chr16:83096844-83096845	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs200019219	chr16:83096851-83096852	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs186473824	chr16:83096860-83096861	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs534983054	chr16:83096861-83096862	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs553821770	chr16:83096868-83096869	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs573643801	chr16:83096885-83096886	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs190759851	chr16:83096918-83096919	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs556246836	chr16:83096925-83096926	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs576051384	chr16:83096950-83096951	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs182949572	chr16:83096962-83096963	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs373690612	chr16:83096992-83096993	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs187909292	chr16:83096994-83096995	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs376799626	chr16:83096995-83096996	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs115583290	chr16:83096999-83097000	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs527611699	chr16:83097003-83097004	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs540899499	chr16:83097010-83097011	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs370044686	chr16:83097016-83097017	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs116844534	chr16:83097032-83097033	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs373991399	chr16:83097036-83097037	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
Developmental delay	21147756	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:83080600-83097400	Weak transcription	Left Ventricle	heart
2	chr16:83090200-83129000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr16:83092400-83129600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr16:83093000-83096800	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr16:83094600-83101400	Weak transcription	Aorta	Aorta
6	chr16:83094800-83096800	Weak transcription	Psoas Muscle	Psoas
7	chr16:83095600-83097200	Strong transcription	HSMM	muscle
8	chr16:83096200-83096600	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr16:83096400-83097000	Weak transcription	HSMMtube	muscle
10	chr16:83096400-83097600	Enhancers	HMEC	breast
11	chr16:83096400-83097800	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr16:83096600-83097600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr16:83096800-83097000	Enhancers	Psoas Muscle	Psoas
14	chr16:83096800-83097200	Enhancers	NHEK	skin
15	chr16:83096800-83098000	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr16:83097000-83097400	Weak transcription	Psoas Muscle	Psoas
17	chr16:83097000-83097400	Enhancers	HSMMtube	muscle
18	chr16:83097000-83097600	Enhancers	Right Ventricle	heart
19	chr16:83097000-83097600	Enhancers	Osteobl	bone
20	chr16:83097200-83097400	Genic enhancers	HSMM	muscle
21	chr16:83097200-83106600	Weak transcription	NHEK	skin
22	chr16:83097400-83097600	Enhancers	Psoas Muscle	Psoas
23	chr16:83097400-83098000	Enhancers	Left Ventricle	heart
24	chr16:83097400-83106400	Weak transcription	HSMM	muscle
25	chr16:83097400-83107000	Weak transcription	HSMMtube	muscle
26	chr16:83097600-83098000	Enhancers	Fetal Muscle Trunk	muscle
27	chr16:83097600-83099000	Weak transcription	Psoas Muscle	Psoas
28	chr16:83097600-83099400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr16:83097600-83101800	Weak transcription	Osteobl	bone
30	chr16:83097600-83129200	Weak transcription	HMEC	breast
31	chr16:83098000-83101600	Weak transcription	Left Ventricle	heart
32	chr16:83099000-83099600	Enhancers	Psoas Muscle	Psoas
33	chr16:83099400-83100200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr16:83099600-83106600	Weak transcription	Psoas Muscle	Psoas
35	chr16:83100200-83106200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr16:83100400-83100600	Active TSS	Fetal Heart	heart
37	chr16:83100600-83100800	Flanking Active TSS	Fetal Heart	heart
38	chr16:83100800-83101400	Enhancers	Fetal Heart	heart
39	chr16:83101400-83101600	Enhancers	Right Atrium	heart
40	chr16:83101400-83101800	Weak transcription	Fetal Heart	heart
41	chr16:83101400-83102600	Enhancers	Aorta	Aorta
42	chr16:83101400-83106600	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr16:83101600-83102200	Enhancers	Left Ventricle	heart
44	chr16:83101600-83103200	Weak transcription	Right Atrium	heart
45	chr16:83101800-83102000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr16:83101800-83102400	Enhancers	Fetal Heart	heart
47	chr16:83101800-83102800	Enhancers	Osteobl	bone
48	chr16:83102000-83102400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr16:83102000-83102800	Enhancers	NH-A	brain
50	chr16:83102000-83105200	Enhancers	HUVEC	blood vessel

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links