Variant report

Variant	nsv907016
Chromosome Location	chr16:82235303-82280548
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:25)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:25 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:82227788..82230560-chr16:82233020..82235910,2	K562	blood:
2	chr16:82064756..82065405-chr16:82263533..82264299,2	K562	blood:
3	chr16:81974143..81975083-chr16:82263601..82264236,3	K562	blood:
4	chr16:82049544..82050394-chr16:82263299..82263885,2	MCF-7	breast:
5	chr16:81974180..81974994-chr16:82263377..82264081,3	MCF-7	breast:
6	chr16:82122956..82125901-chr16:82268346..82271123,2	K562	blood:
7	chr16:82253625..82256227-chr16:82257466..82259269,2	MCF-7	breast:
8	chr16:81923911..81924649-chr16:82263311..82264070,2	K562	blood:
9	chr16:82263588..82264475-chr17:60186661..60187255,2	MCF-7	breast:
10	chr16:82065223..82067133-chr16:82262887..82264649,2	MCF-7	breast:
11	chr16:82276132..82278631-chr16:82297407..82299640,2	MCF-7	breast:
12	chr16:82135638..82136440-chr16:82263371..82264096,2	MCF-7	breast:
13	chr16:82263616..82264267-chr16:82377230..82378064,2	MCF-7	breast:
14	chr16:82095196..82096036-chr16:82263712..82264246,2	MCF-7	breast:
15	chr16:82253625..82256227-chr16:82257466..82259269,2	MCF-7	breast:
16	chr16:82202311..82204324-chr16:82256434..82257979,2	K562	blood:
17	chr16:81973203..81974111-chr16:82263361..82264340,4	K562	blood:
18	chr16:82202815..82205147-chr16:82258827..82261790,2	MCF-7	breast:
19	chr16:82064722..82065718-chr16:82262987..82264266,17	MCF-7	breast:
20	chr16:82064738..82065659-chr16:82263372..82264240,11	MCF-7	breast:
21	chr16:81974282..81974975-chr16:82264426..82265394,2	MCF-7	breast:
22	chr16:82211064..82211822-chr16:82263223..82264188,4	MCF-7	breast:
23	chr16:82255757..82258661-chr16:82260604..82263594,2	K562	blood:
24	chr16:82255757..82258661-chr16:82260604..82263594,2	K562	blood:
25	chr16:82064816..82065363-chr16:82261080..82262041,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000261029	chromatin interactions
ENSG00000135698	chromatin interactions

Extended variants
information (count: 1181 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:1181 , 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	rs2967399	chr16:82235303-82235304	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs567772868	chr16:82235307-82235308	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs182039068	chr16:82235359-82235360	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs373906878	chr16:82235382-82235383	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs549958856	chr16:82235401-82235402	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs571346305	chr16:82235427-82235428	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs2911416	chr16:82235453-82235454	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs35041933	chr16:82235502-82235503	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs2967400	chr16:82235519-82235520	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs565712292	chr16:82235532-82235533	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs151018739	chr16:82235547-82235548	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs112684268	chr16:82235567-82235568	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs375402494	chr16:82235570-82235571	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs578085681	chr16:82235585-82235586	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs554238861	chr16:82235590-82235591	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs532366552	chr16:82235613-82235614	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs140985947	chr16:82235689-82235690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs113461938	chr16:82235698-82235699	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs556754575	chr16:82235701-82235702	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs184996600	chr16:82235708-82235709	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs545330886	chr16:82235710-82235711	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs560431212	chr16:82235735-82235736	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs189312176	chr16:82235762-82235763	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs144826906	chr16:82235782-82235783	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs561085821	chr16:82235792-82235793	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs531873959	chr16:82235800-82235801	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs138580716	chr16:82235804-82235805	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs76914972	chr16:82235830-82235831	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs532329668	chr16:82235849-82235850	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs17233233	chr16:82235860-82235861	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs536501027	chr16:82235921-82235922	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs140264712	chr16:82235953-82235954	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs144745826	chr16:82235986-82235987	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs564162583	chr16:82236032-82236033	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs113547061	chr16:82236041-82236042	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs1424158	chr16:82236057-82236058	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs558355471	chr16:82236063-82236064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs111379371	chr16:82236071-82236072	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs150323904	chr16:82236112-82236113	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs553904073	chr16:82236118-82236119	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs73595022	chr16:82236121-82236122	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs542943052	chr16:82236128-82236129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs181155555	chr16:82236149-82236150	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs1424157	chr16:82236158-82236159	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs568097330	chr16:82236184-82236185	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs543928866	chr16:82236188-82236189	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs565249411	chr16:82236190-82236191	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs2967401	chr16:82236201-82236202	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs149462350	chr16:82236232-82236233	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs144382664	chr16:82236237-82236238	Weak transcription Enhancers	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
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
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	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
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	21829676	CNVD
Cancer	20164920	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16461572	CNVD

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:82231800-82238600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr16:82235000-82236600	Enhancers	Rectal Smooth Muscle	rectum
3	chr16:82235000-82237000	Enhancers	Colon Smooth Muscle	Colon
4	chr16:82235400-82235600	Flanking Active TSS	Fetal Kidney	kidney
5	chr16:82235400-82236400	Enhancers	Pancreatic Islets	Pancreatic Islet
6	chr16:82235600-82236800	Enhancers	Fetal Kidney	kidney
7	chr16:82236600-82236800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr16:82236600-82237200	Enhancers	Spleen	Spleen
9	chr16:82253200-82253600	Enhancers	Fetal Heart	heart
10	chr16:82253400-82254000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr16:82253800-82254000	Weak transcription	Gastric	stomach
12	chr16:82254000-82254200	Enhancers	Ovary	ovary
13	chr16:82254000-82254200	Weak transcription	Right Atrium	heart
14	chr16:82254000-82254400	ZNF genes & repeats	Esophagus	oesophagus
15	chr16:82254000-82254400	Bivalent Enhancer	Fetal Brain Male	brain
16	chr16:82254000-82254400	Genic enhancers	Gastric	stomach
17	chr16:82254000-82254600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr16:82254000-82254600	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr16:82254000-82254600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr16:82254000-82254600	Genic enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr16:82254000-82254600	ZNF genes & repeats	Fetal Kidney	kidney
22	chr16:82254000-82254600	ZNF genes & repeats	Pancreas	Pancrea
23	chr16:82254200-82254600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr16:82254200-82254600	Bivalent/Poised TSS	Fetal Lung	lung
25	chr16:82254400-82254600	Enhancers	Gastric	stomach
26	chr16:82254600-82255000	Weak transcription	Fetal Kidney	kidney
27	chr16:82254600-82255000	Weak transcription	Right Atrium	heart
28	chr16:82254600-82260000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr16:82259200-82259800	Enhancers	Colon Smooth Muscle	Colon
30	chr16:82260000-82260600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr16:82262000-82262200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr16:82262200-82263400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr16:82263000-82263400	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr16:82263200-82263400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr16:82263200-82263400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr16:82263200-82264200	Enhancers	Stomach Mucosa	stomach
37	chr16:82263400-82263800	Enhancers	Duodenum Mucosa	Duodenum
38	chr16:82263400-82263800	Enhancers	Fetal Intestine Small	intestine
39	chr16:82263400-82263800	Enhancers	Placenta	Placenta
40	chr16:82263400-82264200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr16:82263600-82263800	Enhancers	Fetal Kidney	kidney
42	chr16:82263800-82264800	Weak transcription	Duodenum Mucosa	Duodenum
43	chr16:82263800-82265200	Enhancers	Rectal Mucosa Donor 31	rectum
44	chr16:82263800-82265600	Enhancers	Rectal Mucosa Donor 29	rectum
45	chr16:82264000-82264200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr16:82264000-82266000	Enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr16:82264600-82265000	Enhancers	Cortex derived primary cultured neurospheres	brain
48	chr16:82264800-82265000	Enhancers	Duodenum Mucosa	Duodenum
49	chr16:82264800-82265200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr16:82264800-82265600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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