Variant report

Variant	nsv560390
Chromosome Location	chr12:118756336-118778232
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:32)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:32 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:118742809..118745415-chr12:118767577..118770424,2	MCF-7	breast:
2	chr12:118764089..118768365-chr12:118776795..118780945,4	K562	blood:
3	chr12:118758501..118762498-chr12:118764368..118769658,5	K562	blood:
4	chr12:118754566..118756895-chr12:118766418..118769131,2	K562	blood:
5	chr12:118754566..118756895-chr12:118766418..118769131,2	K562	blood:
6	chr12:118766497..118768322-chr12:118773115..118775978,2	MCF-7	breast:
7	chr12:118751643..118753393-chr12:118756511..118758342,2	K562	blood:
8	chr12:118775460..118777770-chr12:118780003..118783654,3	K562	blood:
9	chr12:118755879..118758733-chr12:118792249..118794715,2	K562	blood:
10	chr12:118777906..118781488-chr12:118782215..118786255,6	K562	blood:
11	chr12:118765311..118767097-chr12:118807777..118809983,2	K562	blood:
12	chr12:118774312..118778410-chr12:118809648..118812658,5	K562	blood:
13	chr12:118756520..118758631-chr12:118810566..118812183,2	K562	blood:
14	chr12:118756336..118758349-chr12:118762596..118765319,2	K562	blood:
15	chr12:118764873..118767351-chr12:118794759..118796919,2	MCF-7	breast:
16	chr12:118760395..118762832-chr12:118765688..118768481,2	K562	blood:
17	chr12:118769840..118772299-chr12:118773949..118776713,2	K562	blood:
18	chr12:118734540..118737198-chr12:118753969..118757763,3	K562	blood:
19	chr12:118769840..118772299-chr12:118773949..118776713,2	K562	blood:
20	chr12:118765603..118769564-chr12:118810838..118814625,4	K562	blood:
21	chr12:118757471..118759212-chr12:118797464..118798984,2	K562	blood:
22	chr12:118763801..118766450-chr12:118767353..118769145,2	MCF-7	breast:
23	chr12:118763801..118766450-chr12:118767353..118769145,2	MCF-7	breast:
24	chr12:118758501..118762498-chr12:118764368..118769658,5	K562	blood:
25	chr12:118773930..118776516-chr12:118779431..118781891,3	K562	blood:
26	chr12:118766497..118768322-chr12:118773115..118775978,2	MCF-7	breast:
27	chr12:118744025..118746291-chr12:118766645..118768402,2	K562	blood:
28	chr12:118760395..118762832-chr12:118765688..118768481,2	K562	blood:
29	chr12:118763625..118770467-chr12:118808483..118814296,9	K562	blood:
30	chr12:118764089..118768365-chr12:118776795..118780945,4	K562	blood:
31	chr12:118756336..118758349-chr12:118762596..118765319,2	K562	blood:
32	chr12:118766254..118768357-chr12:118781756..118783461,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000135090	chromatin interactions
ENSG00000111707	chromatin interactions
ENSG00000270482	chromatin interactions

Extended variants
information (count: 666 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:666 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1699160	chr12:118756336-118756337	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs573328489	chr12:118756350-118756351	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs545527496	chr12:118756479-118756480	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs117461257	chr12:118756569-118756570	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs563082596	chr12:118756641-118756642	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs187152170	chr12:118756650-118756651	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs368888051	chr12:118756668-118756669	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs648113	chr12:118756714-118756715	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs35534468	chr12:118756848-118756849	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs529605413	chr12:118756860-118756861	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs527405576	chr12:118756869-118756870	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs547120336	chr12:118756886-118756887	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs567340271	chr12:118756938-118756939	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs191083691	chr12:118756943-118756944	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs575572038	chr12:118756947-118756948	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs377515285	chr12:118756970-118756971	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs549944952	chr12:118757101-118757102	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs543681454	chr12:118757128-118757129	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs563468653	chr12:118757157-118757158	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs183398530	chr12:118757159-118757160	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs188036901	chr12:118757235-118757236	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs75453376	chr12:118757275-118757276	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs189601102	chr12:118757276-118757277	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs9888447	chr12:118757303-118757304	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs140792466	chr12:118757325-118757326	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs574072901	chr12:118757440-118757441	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs114412217	chr12:118757489-118757490	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs556676776	chr12:118757490-118757491	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs570636332	chr12:118757496-118757497	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs576679620	chr12:118757510-118757511	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs144629048	chr12:118757539-118757540	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs148153757	chr12:118757540-118757541	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs527323972	chr12:118757608-118757609	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs540615953	chr12:118757624-118757625	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs560866470	chr12:118757664-118757665	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs552024280	chr12:118757710-118757711	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs571807233	chr12:118757744-118757745	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs115519781	chr12:118757748-118757749	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs549721159	chr12:118757849-118757850	Weak transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs569800285	chr12:118757870-118757871	Weak transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs532472255	chr12:118757889-118757890	Weak transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs551206284	chr12:118757915-118757916	Weak transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs142012315	chr12:118757981-118757982	Weak transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs571199186	chr12:118758062-118758063	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs182212791	chr12:118758067-118758068	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs534230357	chr12:118758110-118758111	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs187567136	chr12:118758195-118758196	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs567664566	chr12:118758204-118758205	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs536716066	chr12:118758265-118758266	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs78682908	chr12:118758312-118758313	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
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
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Cancer	16751803	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
Wilms tumour	21544195	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16397240	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	17133270	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Cryptorchidism	21048976	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Neuroblastoma	18923191	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Neuroblastoma	20406844	CNVD
Medulloblastoma	16783165	CNVD
mental retardation	16760730	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Lung adenocarcinoma	21045234	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21806811	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Pancreatic cancer	17952125	CNVD
Amyotrophic lateral sclerosis	20685689	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:456 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118720800-118793600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr12:118732800-118767600	Weak transcription	Primary T cells from cord blood	blood
3	chr12:118738200-118761800	Weak transcription	Fetal Lung	lung
4	chr12:118745400-118768000	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr12:118745800-118766800	Weak transcription	Fetal Intestine Small	intestine
6	chr12:118745800-118767600	Weak transcription	Duodenum Mucosa	Duodenum
7	chr12:118746000-118783200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr12:118746200-118766800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr12:118746200-118785000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr12:118746600-118766600	Weak transcription	HSMM	muscle
11	chr12:118747000-118759200	Weak transcription	Lung	lung
12	chr12:118748000-118756400	Weak transcription	K562	blood
13	chr12:118748000-118772400	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr12:118749200-118765800	Weak transcription	Psoas Muscle	Psoas
15	chr12:118750600-118758000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr12:118751000-118757600	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr12:118752400-118765600	Weak transcription	Primary B cells from cord blood	blood
18	chr12:118752800-118759000	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr12:118752800-118763800	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr12:118752800-118766400	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr12:118752800-118783200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr12:118753200-118756600	Weak transcription	Primary hematopoietic stem cells	blood
23	chr12:118753800-118758400	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr12:118754000-118764800	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr12:118754200-118758400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr12:118754400-118757600	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr12:118754400-118757600	Weak transcription	NHLF	lung
28	chr12:118754400-118758600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr12:118754600-118756400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr12:118754600-118756400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr12:118754600-118757600	Weak transcription	NHDF-Ad	bronchial
32	chr12:118754600-118758600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr12:118754600-118759000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr12:118754600-118764800	Weak transcription	Osteobl	bone
35	chr12:118754600-118766000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr12:118754600-118775000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr12:118754600-118782200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr12:118754800-118757600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr12:118754800-118768200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr12:118755800-118766800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr12:118756200-118756800	Strong transcription	Primary B cells from peripheral blood	blood
42	chr12:118756200-118757000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr12:118756200-118757200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr12:118756400-118756600	ZNF genes & repeats	K562	blood
45	chr12:118756400-118757000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr12:118756400-118757000	ZNF genes & repeats	GM12878-XiMat	blood
47	chr12:118756400-118757400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
48	chr12:118756600-118756800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
49	chr12:118756600-118760600	Weak transcription	K562	blood
50	chr12:118756800-118759000	Weak transcription	Primary hematopoietic stem cells	blood

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