Variant report

Variant	nsv559701
Chromosome Location	chr12:87801947-87905878
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:29)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:29 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:87834051..87835864-chr12:87837793..87840659,2	MCF-7	breast:
2	chr12:87819379..87822423-chr12:87825316..87827871,3	MCF-7	breast:
3	chr12:87834030..87835899-chr12:87838496..87840072,2	MCF-7	breast:
4	chr12:87857104..87857940-chr19:36000474..36000984,2	MCF-7	breast:
5	chr12:87838924..87840559-chr12:87844144..87846635,2	K562	blood:
6	chr12:87805246..87807657-chr12:87814690..87817082,2	MCF-7	breast:
7	chr12:87805246..87807657-chr12:87814690..87817082,2	MCF-7	breast:
8	chr12:87871327..87873600-chr12:87874695..87877168,2	MCF-7	breast:
9	chr12:87884798..87885495-chr17:59914382..59915300,2	MCF-7	breast:
10	chr12:87821658..87824109-chr12:87834973..87836828,2	MCF-7	breast:
11	chr12:87819379..87822423-chr12:87825316..87827871,3	MCF-7	breast:
12	chr12:87821658..87824109-chr12:87834973..87836828,2	MCF-7	breast:
13	chr12:87828977..87831928-chr12:87832715..87835394,2	MCF-7	breast:
14	chr12:87823587..87825538-chr12:87827654..87830409,3	MCF-7	breast:
15	chr12:87834051..87835864-chr12:87837793..87840659,2	MCF-7	breast:
16	chr12:87828977..87831928-chr12:87832715..87835394,2	MCF-7	breast:
17	chr12:87848497..87850626-chr12:87852001..87854653,2	K562	blood:
18	chr12:87871327..87873600-chr12:87874695..87877168,2	MCF-7	breast:
19	chr12:87829514..87833509-chr12:87836513..87839734,3	MCF-7	breast:
20	chr12:87838924..87840559-chr12:87844144..87846635,2	K562	blood:
21	chr12:87823587..87825538-chr12:87827654..87830409,3	MCF-7	breast:
22	chr12:87860374..87860994-chr2:39119358..39120187,2	MCF-7	breast:
23	chr12:87886259..87887765-chr12:87887900..87890052,2	K562	blood:
24	chr12:87834030..87835899-chr12:87838496..87840072,2	MCF-7	breast:
25	chr12:87848497..87850626-chr12:87852001..87854653,2	K562	blood:
26	chr12:87895153..87898103-chr12:87903030..87904943,2	MCF-7	breast:
27	chr12:87895153..87898103-chr12:87903030..87904943,2	MCF-7	breast:
28	chr12:87829514..87833509-chr12:87836513..87839734,3	MCF-7	breast:
29	chr12:87886259..87887765-chr12:87887900..87890052,2	K562	blood:

No data

Extended variants
information (count: 2932 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:2932 , 50 per page) page: 1 2 3 4 5 6 7 ... 59

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12424060	chr12:87801947-87801948	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs34519468	chr12:87801982-87801983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs569925170	chr12:87801983-87801984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs539026045	chr12:87802028-87802029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs574661206	chr12:87802050-87802051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs112505569	chr12:87802066-87802067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs4597138	chr12:87802094-87802095	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs115716231	chr12:87802128-87802129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs554640065	chr12:87802132-87802133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs551834988	chr12:87802160-87802161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs373114906	chr12:87802178-87802179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs113830360	chr12:87802185-87802186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs534530067	chr12:87802218-87802219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs12422734	chr12:87802254-87802255	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs545007911	chr12:87802261-87802262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs4548700	chr12:87802279-87802280	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs539111936	chr12:87802292-87802293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs557120932	chr12:87802300-87802301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs562583192	chr12:87802351-87802352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs560954644	chr12:87802356-87802357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs529922594	chr12:87802360-87802361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs140344310	chr12:87802484-87802485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs116424389	chr12:87802486-87802487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs10777042	chr12:87802506-87802507	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs552425852	chr12:87802570-87802571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs565987191	chr12:87802579-87802580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs535009784	chr12:87802586-87802587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs561530018	chr12:87802636-87802637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs548287492	chr12:87802650-87802651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs374604371	chr12:87802668-87802669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs145677949	chr12:87802676-87802677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs537271861	chr12:87802681-87802682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs557101453	chr12:87802687-87802688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs577355650	chr12:87802708-87802709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs530358821	chr12:87802732-87802733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs539770568	chr12:87802740-87802741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs553623643	chr12:87802771-87802772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs571985285	chr12:87802813-87802814	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs73197650	chr12:87802829-87802830	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs116456662	chr12:87802896-87802897	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs574554711	chr12:87802899-87802900	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs73423448	chr12:87802900-87802901	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs563371277	chr12:87802948-87802949	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs573552492	chr12:87802982-87802983	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs532333130	chr12:87802989-87802990	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs552230287	chr12:87803035-87803036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs559561084	chr12:87803048-87803049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs528479974	chr12:87803052-87803053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs193072968	chr12:87803092-87803093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs74319382	chr12:87803124-87803125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17899364	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	18632612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	22032731	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Ovarian cancer	21720365	CNVD
Acute myeloid leukemia	20729466	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Renal cell carcinoma	18194544	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21364760	CNVD
Urothelial cell carcinoma	18451213	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:181 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:87801800-87817600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:87802800-87803000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:87803200-87803400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr12:87807000-87807400	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr12:87807000-87808800	Enhancers	Fetal Heart	heart
6	chr12:87807400-87807800	Enhancers	Fetal Stomach	stomach
7	chr12:87807400-87808200	Enhancers	NH-A	brain
8	chr12:87808000-87808200	Enhancers	Fetal Lung	lung
9	chr12:87808000-87808600	Enhancers	Placenta Amnion	Placenta Amnion
10	chr12:87808600-87822600	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr12:87817600-87820200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr12:87819400-87819600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr12:87819800-87820200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr12:87820200-87821000	ZNF genes & repeats	A549	lung
15	chr12:87820200-87821200	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr12:87820200-87821600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr12:87821000-87821200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr12:87821000-87822200	Weak transcription	A549	lung
19	chr12:87821200-87822000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr12:87821200-87822200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr12:87821400-87823200	Enhancers	NHEK	skin
22	chr12:87821600-87823400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr12:87821600-87823800	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr12:87821600-87823800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr12:87822000-87822800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr12:87822000-87824200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr12:87822000-87824800	Enhancers	HMEC	breast
28	chr12:87822200-87822800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr12:87822200-87822800	ZNF genes & repeats	A549	lung
30	chr12:87822200-87824800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr12:87822600-87823000	Enhancers	Muscle Satellite Cultured Cells	--
32	chr12:87822600-87823000	Enhancers	Hela-S3	cervix
33	chr12:87822600-87823200	Enhancers	Placenta Amnion	Placenta Amnion
34	chr12:87822800-87833000	Weak transcription	A549	lung
35	chr12:87823800-87824200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr12:87824200-87824600	Enhancers	NHEK	skin
37	chr12:87824200-87824800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr12:87824800-87831400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr12:87831400-87832400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr12:87831600-87832000	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr12:87832000-87833200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr12:87832400-87833200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr12:87832800-87834400	Enhancers	Stomach Mucosa	stomach
44	chr12:87833000-87833200	Active TSS	A549	lung
45	chr12:87833000-87834400	Enhancers	Fetal Intestine Small	intestine
46	chr12:87833000-87834600	Enhancers	HUVEC	blood vessel
47	chr12:87833000-87835000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr12:87833000-87835200	Enhancers	Hela-S3	cervix
49	chr12:87833200-87833400	Enhancers	Placenta Amnion	Placenta Amnion
50	chr12:87833200-87833400	Enhancers	A549	lung

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