Variant report

Variant	nsv973961
Chromosome Location	chr12:46153815-46175394
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:26)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:26 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:46156363..46159128-chr12:46168846..46171397,2	K562	blood:
2	chr12:46119651..46123075-chr12:46155146..46159622,5	MCF-7	breast:
3	chr12:46157277..46159128-chr12:46169493..46171397,2	K562	blood:
4	chr12:46166755..46169642-chr12:46247859..46249712,2	K562	blood:
5	chr12:46122681..46123305-chr12:46156413..46157018,2	MCF-7	breast:
6	chr12:46122273..46123989-chr12:46154776..46157758,3	MCF-7	breast:
7	chr12:46122427..46125740-chr12:46165750..46168434,3	K562	blood:
8	chr12:46157277..46159128-chr12:46169493..46171397,2	K562	blood:
9	chr12:46120828..46123681-chr12:46169798..46173669,4	K562	blood:
10	chr12:46122181..46123938-chr12:46171280..46173154,2	K562	blood:
11	chr12:46161724..46163829-chr12:46165085..46167700,2	K562	blood:
12	chr12:46147919..46149431-chr12:46165409..46167229,2	K562	blood:
13	chr12:46174845..46176940-chr12:46178634..46181295,2	MCF-7	breast:
14	chr12:46161724..46163829-chr12:46165085..46167700,2	K562	blood:
15	chr12:46172151..46174760-chr12:46183575..46186496,2	K562	blood:
16	chr12:46149877..46152600-chr12:46155145..46158037,2	K562	blood:
17	chr12:46173636..46175276-chr12:46381483..46383526,2	K562	blood:
18	chr12:46123687..46125328-chr12:46172888..46175299,2	K562	blood:
19	chr12:46118815..46121189-chr12:46174035..46176662,2	K562	blood:
20	chr12:46122348..46124004-chr12:46152718..46154372,2	K562	blood:
21	chr12:46145686..46147552-chr12:46169816..46172547,2	K562	blood:
22	chr12:46121574..46124549-chr12:46159911..46161765,2	K562	blood:
23	chr12:46156363..46159128-chr12:46168846..46171397,2	K562	blood:
24	chr12:46171044..46173510-chr12:46175447..46178280,3	K562	blood:
25	chr12:46156094..46158266-chr12:46298967..46301414,2	MCF-7	breast:
26	chr12:46168951..46170529-chr12:46177515..46179157,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000273015	chromatin interactions
ENSG00000189079	chromatin interactions

Extended variants
information (count: 694 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:694 , 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	rs541892228	chr12:46153898-46153899	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs546657446	chr12:46153925-46153926	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs564315622	chr12:46153931-46153932	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs12580363	chr12:46153950-46153951	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs553866631	chr12:46153963-46153964	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs572075655	chr12:46153971-46153972	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs144920902	chr12:46153973-46153974	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs189380615	chr12:46154123-46154124	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs147967645	chr12:46154135-46154136	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs368719283	chr12:46154167-46154168	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs141708697	chr12:46154175-46154176	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs147088293	chr12:46154270-46154271	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs182525767	chr12:46154274-46154275	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs549629322	chr12:46154276-46154277	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs550563963	chr12:46154300-46154301	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs374577998	chr12:46154304-46154305	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs555503415	chr12:46154315-46154316	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs370211103	chr12:46154316-46154317	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs548299430	chr12:46154327-46154328	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs566579169	chr12:46154336-46154337	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs568882310	chr12:46154369-46154370	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs547472765	chr12:46154396-46154397	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs565766597	chr12:46154432-46154433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs552143144	chr12:46154450-46154451	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs571771418	chr12:46154463-46154464	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs184163669	chr12:46154485-46154486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs199600143	chr12:46154487-46154488	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs200479053	chr12:46154503-46154504	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs189538993	chr12:46154553-46154554	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs371023860	chr12:46154581-46154582	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs35793279	chr12:46154607-46154608	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs116220079	chr12:46154656-46154657	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs568258718	chr12:46154665-46154666	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs535614865	chr12:46154668-46154669	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs531842935	chr12:46154671-46154672	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs115376719	chr12:46154679-46154680	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs572163740	chr12:46154707-46154708	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs545864391	chr12:46154708-46154709	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs538971956	chr12:46154736-46154737	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs557717379	chr12:46154851-46154852	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs577501578	chr12:46154864-46154865	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs181132167	chr12:46154886-46154887	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs185439122	chr12:46154914-46154915	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs556231704	chr12:46154920-46154921	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs75491603	chr12:46154952-46154953	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs541977743	chr12:46154969-46154970	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs560254043	chr12:46154982-46154983	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs527776903	chr12:46155011-46155012	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs201576764	chr12:46155016-46155017	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs552181768	chr12:46155037-46155038	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:64)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	CNVD
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
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Renal cell carcinoma	18194544	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
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Gastric cancer	18160780	CNVD
Myelofibrosis	22110671	CNVD
Follicular lymphoma	20505157	CNVD
Hepatocellular carcinoma	16750200	CNVD
Melanoma	18172304	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Bladder cancer	21909424	CNVD
Acute lymphoblastic leukemia	21339820	CNVD

Chromatin state (count:554 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:46125000-46161200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr12:46125200-46156000	Weak transcription	Small Intestine	intestine
3	chr12:46126400-46161200	Weak transcription	Aorta	Aorta
4	chr12:46127200-46161200	Weak transcription	HMEC	breast
5	chr12:46127400-46154800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr12:46127400-46156000	Weak transcription	Adipose Nuclei	Adipose
7	chr12:46128200-46164600	Weak transcription	Esophagus	oesophagus
8	chr12:46129200-46156600	Weak transcription	HepG2	liver
9	chr12:46129400-46156000	Weak transcription	Brain Angular Gyrus	brain
10	chr12:46131200-46160800	Weak transcription	NHEK	skin
11	chr12:46131400-46156200	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr12:46131800-46156000	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr12:46132000-46161800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr12:46132000-46205200	Weak transcription	HSMM	muscle
15	chr12:46132200-46165000	Weak transcription	Lung	lung
16	chr12:46135400-46155400	Weak transcription	HUVEC	blood vessel
17	chr12:46136400-46159400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr12:46136600-46157800	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr12:46136800-46156200	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr12:46137200-46156000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr12:46137400-46160800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr12:46137400-46163000	Weak transcription	Fetal Intestine Large	intestine
23	chr12:46137400-46174400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr12:46137600-46161800	Weak transcription	Fetal Muscle Leg	muscle
25	chr12:46139000-46156000	Weak transcription	Liver	Liver
26	chr12:46140200-46155200	Weak transcription	Stomach Mucosa	stomach
27	chr12:46140200-46156000	Weak transcription	Brain Anterior Caudate	brain
28	chr12:46140600-46155600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr12:46141000-46161800	Weak transcription	Fetal Muscle Trunk	muscle
30	chr12:46142000-46156600	Weak transcription	Hela-S3	cervix
31	chr12:46142000-46168400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr12:46142200-46156000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr12:46142200-46161200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr12:46142400-46156000	Weak transcription	Duodenum Mucosa	Duodenum
35	chr12:46143000-46156200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr12:46143200-46156000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr12:46143600-46161400	Weak transcription	Thymus	Thymus
38	chr12:46145200-46156000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr12:46145400-46156000	Weak transcription	Ovary	ovary
40	chr12:46145400-46167600	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr12:46145600-46157200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr12:46145600-46158200	Weak transcription	Primary T cells from cord blood	blood
43	chr12:46146600-46156000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr12:46146600-46161200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr12:46147000-46161200	Weak transcription	Left Ventricle	heart
46	chr12:46147800-46156000	Weak transcription	A549	lung
47	chr12:46148200-46160800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr12:46148400-46155800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr12:46148400-46156000	Weak transcription	K562	blood
50	chr12:46148400-46168200	Weak transcription	Psoas Muscle	Psoas

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