Variant report

Variant	nsv522270
Chromosome Location	chr16:82252003-82325530
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:51)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:51 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr16:82095196..82096036-chr16:82263712..82264246,2	MCF-7	breast:
2	chr16:82296873..82297746-chr16:83480098..83480904,3	K562	blood:
3	chr16:82064816..82065363-chr16:82261080..82262041,2	MCF-7	breast:
4	chr16:82304234..82306483-chr16:82306506..82308136,2	MCF-7	breast:
5	chr16:82297332..82297930-chr16:82362205..82363171,2	MCF-7	breast:
6	chr16:82263588..82264475-chr17:60186661..60187255,2	MCF-7	breast:
7	chr16:82305728..82307988-chr16:82311473..82314764,3	MCF-7	breast:
8	chr16:82299027..82301102-chr16:82373517..82376101,2	MCF-7	breast:
9	chr16:82253625..82256227-chr16:82257466..82259269,2	MCF-7	breast:
10	chr16:82287148..82288914-chr16:82290402..82292372,2	MCF-7	breast:
11	chr16:81973203..81974111-chr16:82263361..82264340,4	K562	blood:
12	chr16:82296968..82297743-chr16:82489893..82490632,4	MCF-7	breast:
13	chr16:82302093..82302908-chr16:82377522..82378109,2	MCF-7	breast:
14	chr16:82314631..82316519-chr16:82318553..82321502,2	K562	blood:
15	chr16:82287148..82288914-chr16:82290402..82292372,2	MCF-7	breast:
16	chr16:82297232..82297766-chr16:82673115..82673762,2	K562	blood:
17	chr16:82305562..82308291-chr16:82312214..82314112,2	K562	blood:
18	chr16:82296959..82297780-chr16:82375911..82376777,3	MCF-7	breast:
19	chr16:82253625..82256227-chr16:82257466..82259269,2	MCF-7	breast:
20	chr16:82304234..82306483-chr16:82306506..82308136,2	MCF-7	breast:
21	chr16:82296862..82297823-chr16:82613624..82614666,8	MCF-7	breast:
22	chr16:81974180..81974994-chr16:82263377..82264081,3	MCF-7	breast:
23	chr16:82314631..82316519-chr16:82318553..82321502,2	K562	blood:
24	chr16:82295686..82298241-chr16:82377026..82378513,53	MCF-7	breast:
25	chr16:82202815..82205147-chr16:82258827..82261790,2	MCF-7	breast:
26	chr16:82276132..82278631-chr16:82297407..82299640,2	MCF-7	breast:
27	chr16:82064738..82065659-chr16:82263372..82264240,11	MCF-7	breast:
28	chr16:81974143..81975083-chr16:82263601..82264236,3	K562	blood:
29	chr16:82064756..82065405-chr16:82263533..82264299,2	K562	blood:
30	chr16:81923911..81924649-chr16:82263311..82264070,2	K562	blood:
31	chr16:82049544..82050394-chr16:82263299..82263885,2	MCF-7	breast:
32	chr16:82297678..82300099-chr16:82362624..82364703,2	MCF-7	breast:
33	chr16:82135638..82136440-chr16:82263371..82264096,2	MCF-7	breast:
34	chr16:82255757..82258661-chr16:82260604..82263594,2	K562	blood:
35	chr16:82305728..82307988-chr16:82311473..82314764,3	MCF-7	breast:
36	chr16:82211064..82211822-chr16:82263223..82264188,4	MCF-7	breast:
37	chr16:82255757..82258661-chr16:82260604..82263594,2	K562	blood:
38	chr16:82296965..82297742-chr16:82490169..82490880,2	MCF-7	breast:
39	chr16:82296863..82298244-chr16:82377476..82378533,11	MCF-7	breast:
40	chr16:82315069..82317985-chr6:42750916..42752548,2	MCF-7	breast:
41	chr16:82202311..82204324-chr16:82256434..82257979,2	K562	blood:
42	chr16:82276132..82278631-chr16:82297407..82299640,2	MCF-7	breast:
43	chr16:82325315..82327311-chr16:82329809..82331549,2	K562	blood:
44	chr16:82122956..82125901-chr16:82268346..82271123,2	K562	blood:
45	chr16:82263616..82264267-chr16:82377230..82378064,2	MCF-7	breast:
46	chr16:82305562..82308291-chr16:82312214..82314112,2	K562	blood:
47	chr16:82065223..82067133-chr16:82262887..82264649,2	MCF-7	breast:
48	chr16:82064722..82065718-chr16:82262987..82264266,17	MCF-7	breast:
49	chr16:82296221..82297158-chr16:82378715..82379288,2	MCF-7	breast:
50	chr16:81974282..81974975-chr16:82264426..82265394,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000261029	chromatin interactions
ENSG00000135698	chromatin interactions

Extended variants
information (count: 2077 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:2077 , 50 per page) page: 1 2 3 4 5 6 7 ... 42

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577339808	chr16:82253201-82253202	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs182249671	chr16:82253213-82253214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs558998219	chr16:82253258-82253259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs375021681	chr16:82253264-82253265	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs367806589	chr16:82253286-82253287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs114997370	chr16:82253299-82253300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs567991090	chr16:82253302-82253303	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs185944211	chr16:82253310-82253311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs550178736	chr16:82253331-82253332	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs147271427	chr16:82253341-82253342	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs554332608	chr16:82253344-82253345	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs574381524	chr16:82253403-82253404	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs190864775	chr16:82253422-82253423	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs370226626	chr16:82253469-82253470	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs554309938	chr16:82253471-82253472	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs566138366	chr16:82253508-82253509	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs182377336	chr16:82253527-82253528	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs200972137	chr16:82253561-82253562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs554461645	chr16:82253593-82253594	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs185495539	chr16:82253627-82253628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs374977970	chr16:82253658-82253659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs190256303	chr16:82253671-82253672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs182869283	chr16:82253716-82253717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs543004175	chr16:82253725-82253726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs576455356	chr16:82253773-82253774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs540581044	chr16:82253804-82253805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs75881894	chr16:82253818-82253819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs556485044	chr16:82253826-82253827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs2967410	chr16:82253837-82253838	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs565702174	chr16:82253882-82253883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs543254117	chr16:82253909-82253910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs561303766	chr16:82253946-82253947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs188495668	chr16:82253976-82253977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs550228705	chr16:82253992-82253993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs565531601	chr16:82254064-82254065	ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs12928976	chr16:82254071-82254072	ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs532560038	chr16:82254092-82254093	ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs114782462	chr16:82254112-82254113	ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs542537881	chr16:82254139-82254140	ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs566222239	chr16:82254149-82254150	ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs574128922	chr16:82254197-82254198	ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs62654002	chr16:82254198-82254199	ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs368311919	chr16:82254210-82254211	ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs548397883	chr16:82254234-82254235	ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs62654003	chr16:82254239-82254240	ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs201763070	chr16:82254243-82254244	ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs62654004	chr16:82254246-82254247	ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs372280026	chr16:82254282-82254283	ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs558435353	chr16:82254285-82254286	ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs111171420	chr16:82254293-82254294	ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS	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:140 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:82253200-82253600	Enhancers	Fetal Heart	heart
2	chr16:82253400-82254000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr16:82253800-82254000	Weak transcription	Gastric	stomach
4	chr16:82254000-82254200	Enhancers	Ovary	ovary
5	chr16:82254000-82254200	Weak transcription	Right Atrium	heart
6	chr16:82254000-82254400	ZNF genes & repeats	Esophagus	oesophagus
7	chr16:82254000-82254400	Bivalent Enhancer	Fetal Brain Male	brain
8	chr16:82254000-82254400	Genic enhancers	Gastric	stomach
9	chr16:82254000-82254600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr16:82254000-82254600	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr16:82254000-82254600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr16:82254000-82254600	Genic enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr16:82254000-82254600	ZNF genes & repeats	Fetal Kidney	kidney
14	chr16:82254000-82254600	ZNF genes & repeats	Pancreas	Pancrea
15	chr16:82254200-82254600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr16:82254200-82254600	Bivalent/Poised TSS	Fetal Lung	lung
17	chr16:82254400-82254600	Enhancers	Gastric	stomach
18	chr16:82254600-82255000	Weak transcription	Fetal Kidney	kidney
19	chr16:82254600-82255000	Weak transcription	Right Atrium	heart
20	chr16:82254600-82260000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr16:82259200-82259800	Enhancers	Colon Smooth Muscle	Colon
22	chr16:82260000-82260600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr16:82262000-82262200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr16:82262200-82263400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr16:82263000-82263400	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr16:82263200-82263400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr16:82263200-82263400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr16:82263200-82264200	Enhancers	Stomach Mucosa	stomach
29	chr16:82263400-82263800	Enhancers	Duodenum Mucosa	Duodenum
30	chr16:82263400-82263800	Enhancers	Fetal Intestine Small	intestine
31	chr16:82263400-82263800	Enhancers	Placenta	Placenta
32	chr16:82263400-82264200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr16:82263600-82263800	Enhancers	Fetal Kidney	kidney
34	chr16:82263800-82264800	Weak transcription	Duodenum Mucosa	Duodenum
35	chr16:82263800-82265200	Enhancers	Rectal Mucosa Donor 31	rectum
36	chr16:82263800-82265600	Enhancers	Rectal Mucosa Donor 29	rectum
37	chr16:82264000-82264200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr16:82264000-82266000	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr16:82264600-82265000	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr16:82264800-82265000	Enhancers	Duodenum Mucosa	Duodenum
41	chr16:82264800-82265200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr16:82264800-82265600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr16:82264800-82266600	Enhancers	HMEC	breast
44	chr16:82264800-82266800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr16:82264800-82266800	Enhancers	NHEK	skin
46	chr16:82265200-82266200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr16:82266200-82266600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr16:82269800-82271200	Bivalent Enhancer	GM12878-XiMat	blood
49	chr16:82271000-82271200	Bivalent Enhancer	Primary hematopoietic stem cells	blood
50	chr16:82273600-82274000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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