Variant report

Variant	esv275089
Chromosome Location	chr16:82712315-82714034
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	chr16:82713256..82715722-chr16:82717588..82720342,2	MCF-7	breast:

Extended variants
information (count: 119 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:119 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10514555	chr16:82712315-82712316	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs558914191	chr16:82712327-82712328	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs187709603	chr16:82712371-82712372	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs193265475	chr16:82712404-82712405	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs576756658	chr16:82712421-82712422	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs552845729	chr16:82712433-82712434	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs574520447	chr16:82712436-82712437	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs184178400	chr16:82712453-82712454	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs12921268	chr16:82712457-82712458	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs150601596	chr16:82712489-82712490	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs545363450	chr16:82712494-82712495	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs375569258	chr16:82712567-82712568	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs532651539	chr16:82712579-82712580	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs189358841	chr16:82712580-82712581	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs562572328	chr16:82712581-82712582	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs559683601	chr16:82712585-82712586	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs192448438	chr16:82712607-82712608	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs61187981	chr16:82712615-82712616	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs140588187	chr16:82712616-82712617	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs537458068	chr16:82712642-82712643	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs184844114	chr16:82712645-82712646	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs570728053	chr16:82712676-82712677	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs58581684	chr16:82712690-82712691	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs17264474	chr16:82712697-82712698	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs574528968	chr16:82712704-82712705	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs535199897	chr16:82712708-82712709	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs3893935	chr16:82712722-82712723	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs141250822	chr16:82712730-82712731	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs570689006	chr16:82712747-82712748	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs545401345	chr16:82712751-82712752	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs3893936	chr16:82712766-82712767	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs577508643	chr16:82712767-82712768	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs3852736	chr16:82712772-82712773	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs545367022	chr16:82712797-82712798	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs559926435	chr16:82712803-82712804	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs188724656	chr16:82712816-82712817	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs181369985	chr16:82712818-82712819	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs568508867	chr16:82712840-82712841	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs530979049	chr16:82712859-82712860	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs184368017	chr16:82712864-82712865	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs570745714	chr16:82712875-82712876	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs528419576	chr16:82712876-82712877	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs546554736	chr16:82712877-82712878	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs372168293	chr16:82712889-82712890	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs535555245	chr16:82712899-82712900	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs535280754	chr16:82712912-82712913	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs3893937	chr16:82712924-82712925	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs553893945	chr16:82712927-82712928	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs539140280	chr16:82712930-82712931	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs557770420	chr16:82712947-82712948	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:82694200-82728400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr16:82695400-82726600	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr16:82699400-82716400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr16:82700600-82713000	Weak transcription	HSMM	muscle
5	chr16:82701000-82717000	Weak transcription	HSMMtube	muscle
6	chr16:82702800-82712600	Weak transcription	Left Ventricle	heart
7	chr16:82702800-82718600	Weak transcription	Fetal Muscle Leg	muscle
8	chr16:82706200-82712600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr16:82706600-82716400	Weak transcription	HUVEC	blood vessel
10	chr16:82706600-82716800	Weak transcription	HMEC	breast
11	chr16:82708600-82712600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr16:82709600-82712400	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr16:82709600-82714400	Weak transcription	Osteobl	bone
14	chr16:82709600-82714800	Weak transcription	Right Ventricle	heart
15	chr16:82709600-82716400	Weak transcription	Psoas Muscle	Psoas
16	chr16:82709600-82724200	Weak transcription	Aorta	Aorta
17	chr16:82709600-82728000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr16:82709800-82712600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr16:82709800-82727000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr16:82710000-82727200	Weak transcription	NH-A	brain
21	chr16:82710600-82713200	Enhancers	Fetal Intestine Large	intestine
22	chr16:82711200-82712800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr16:82711200-82718200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr16:82711400-82714200	Enhancers	Fetal Intestine Small	intestine
25	chr16:82712000-82713000	Enhancers	NHEK	skin
26	chr16:82712200-82718400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr16:82712400-82712800	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr16:82712400-82713000	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr16:82712600-82712800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr16:82712600-82714000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr16:82712600-82715800	Enhancers	Left Ventricle	heart
32	chr16:82712600-82718200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr16:82712800-82715200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr16:82713000-82713200	Genic enhancers	NHEK	skin
35	chr16:82713000-82713600	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr16:82713000-82720600	Strong transcription	HSMM	muscle
37	chr16:82713200-82715000	Weak transcription	Fetal Intestine Large	intestine
38	chr16:82713200-82718000	Strong transcription	NHEK	skin
39	chr16:82713600-82713800	Enhancers	Right Atrium	heart
40	chr16:82713600-82713800	Genic enhancers	Skeletal Muscle Female	skeletal muscle
41	chr16:82713800-82716400	Weak transcription	Right Atrium	heart
42	chr16:82713800-82717000	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr16:82714000-82716600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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