Variant report

Variant	nsv899077
Chromosome Location	chr12:51160612-51188397
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:43)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:43 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:51175977..51178519-chr12:51179089..51181352,2	MCF-7	breast:
2	chr12:51156412..51159922-chr12:51179248..51181916,4	MCF-7	breast:
3	chr12:51159281..51161379-chr12:51202424..51204535,2	K562	blood:
4	chr12:51182843..51185421-chr12:51191723..51194223,2	MCF-7	breast:
5	chr12:51167462..51169093-chr12:51179939..51182142,2	MCF-7	breast:
6	chr12:51168355..51171180-chr12:51178440..51181054,2	K562	blood:
7	chr12:51155325..51162343-chr12:51172009..51182370,14	MCF-7	breast:
8	chr12:51168065..51169805-chr12:51419046..51421840,2	K562	blood:
9	chr12:51180253..51181185-chr16:86610105..86610762,2	Hela-S3	cervix:
10	chr12:51155753..51160968-chr12:51475872..51478809,5	MCF-7	breast:
11	chr12:51156141..51159167-chr12:51172067..51175180,3	MCF-7	breast:
12	chr12:51167462..51169093-chr12:51179939..51182142,2	MCF-7	breast:
13	chr12:50897453..50902823-chr12:51156009..51160960,8	MCF-7	breast:
14	chr12:51160285..51163042-chr12:51178907..51180859,2	MCF-7	breast:
15	chr12:51184854..51187622-chr12:51441411..51443467,2	K562	blood:
16	chr12:51168355..51171180-chr12:51178440..51181054,2	K562	blood:
17	chr12:51156235..51160771-chr12:51163731..51171865,12	MCF-7	breast:
18	chr12:51184951..51187491-chr12:51218198..51219760,2	MCF-7	breast:
19	chr12:51180221..51180749-chr7:5569779..5570454,2	Hela-S3	cervix:
20	chr12:51169144..51170647-chr12:51172407..51174153,2	MCF-7	breast:
21	chr12:51156696..51159478-chr12:51186693..51190528,4	K562	blood:
22	chr12:51156114..51160622-chr12:51418657..51421869,11	K562	blood:
23	chr12:51159221..51162164-chr12:51418632..51421026,2	MCF-7	breast:
24	chr12:51158399..51160694-chr12:51565412..51567742,2	K562	blood:
25	chr12:51177098..51179722-chr12:51180352..51182751,3	K562	blood:
26	chr12:51155914..51160622-chr12:51417270..51421869,9	K562	blood:
27	chr12:51172815..51175519-chr12:51421774..51424420,2	MCF-7	breast:
28	chr12:51160285..51163042-chr12:51178907..51180859,2	MCF-7	breast:
29	chr12:51169144..51170647-chr12:51172407..51174153,2	MCF-7	breast:
30	chr12:51177098..51179722-chr12:51180352..51182751,3	K562	blood:
31	chr12:51177098..51179520-chr12:51179532..51182751,3	K562	blood:
32	chr12:51157488..51159323-chr12:51172823..51174505,2	K562	blood:
33	chr12:51156472..51159680-chr12:51184419..51189273,5	MCF-7	breast:
34	chr12:51177098..51179520-chr12:51179532..51182751,3	K562	blood:
35	chr12:51171915..51173515-chr12:51175788..51178254,2	MCF-7	breast:
36	chr12:50684742..50686911-chr12:51184178..51187146,2	K562	blood:
37	chr12:51179438..51182295-chr12:51203599..51205649,2	MCF-7	breast:
38	chr12:51175977..51178519-chr12:51179089..51181352,2	MCF-7	breast:
39	chr12:51171915..51173515-chr12:51175788..51178254,2	MCF-7	breast:
40	chr12:51168132..51169844-chr12:51406411..51408266,2	MCF-7	breast:
41	chr12:50497524..50499290-chr12:51157685..51160627,2	MCF-7	breast:
42	chr12:51156262..51157919-chr12:51168245..51170348,2	K562	blood:
43	chr12:50897312..50899880-chr12:51160076..51161982,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000075624	chromatin interactions
ENSG00000050426	chromatin interactions
ENSG00000272028	chromatin interactions
ENSG00000167588	chromatin interactions
ENSG00000110925	chromatin interactions
ENSG00000123268	chromatin interactions
ENSG00000110911	chromatin interactions
ENSG00000066084	chromatin interactions
ENSG00000203431	chromatin interactions
ENSG00000135457	chromatin interactions

Extended variants
information (count: 992 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:992 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9943796	chr12:51160612-51160613	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs548170701	chr12:51160616-51160617	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs192398490	chr12:51160666-51160667	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs527490170	chr12:51160678-51160679	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs9943712	chr12:51160715-51160716	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs566583340	chr12:51160765-51160766	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs538648251	chr12:51160826-51160827	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs552122786	chr12:51160873-51160874	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs569144414	chr12:51160875-51160876	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs563789852	chr12:51160893-51160894	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs538560320	chr12:51160939-51160940	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs554963788	chr12:51160989-51160990	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs71086474	chr12:51161003-51161004	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs398019528	chr12:51161016-51161017	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs575020954	chr12:51161019-51161020	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs141266880	chr12:51161060-51161061	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs553907823	chr12:51161074-51161075	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs530659861	chr12:51161108-51161109	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs545977636	chr12:51161131-51161132	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs576985086	chr12:51161227-51161228	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs545831650	chr12:51161236-51161237	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs183734958	chr12:51161238-51161239	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs575925440	chr12:51161264-51161265	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs542152303	chr12:51161289-51161290	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs78830419	chr12:51161307-51161308	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs561825809	chr12:51161339-51161340	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs74701444	chr12:51161387-51161388	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs79198869	chr12:51161393-51161394	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs560233609	chr12:51161466-51161467	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs370253689	chr12:51161467-51161468	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs565836667	chr12:51161493-51161494	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs201398104	chr12:51161494-51161495	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs373718281	chr12:51161566-51161567	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs377442598	chr12:51161585-51161586	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs143745510	chr12:51161667-51161668	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs76686561	chr12:51161674-51161675	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs552233195	chr12:51161695-51161696	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs569284055	chr12:51161698-51161699	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs371332253	chr12:51161699-51161700	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs531602374	chr12:51161718-51161719	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs113923834	chr12:51161737-51161738	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	mRNA abundance
42	rs568615003	chr12:51161741-51161742	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs534416137	chr12:51161742-51161743	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs12829524	chr12:51161744-51161745	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs150274358	chr12:51161749-51161750	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs12301934	chr12:51161770-51161771	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs555982235	chr12:51161812-51161813	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs374546726	chr12:51161813-51161814	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs541417744	chr12:51161846-51161847	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs558595103	chr12:51161875-51161876	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
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
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
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
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
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Bladder cancer	21909424	CNVD
Multiple myeloma	16616336	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	17661082	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Intracranial ependymoma	16609018	CNVD
Cancer	17160897	CNVD
Breast cancer	21858162	CNVD
Urothelial carcinoma	21177765	CNVD
Schizophrenia	23813976	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:860 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51159000-51161800	Weak transcription	Gastric	stomach
2	chr12:51159000-51175200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr12:51159000-51180200	Weak transcription	Esophagus	oesophagus
4	chr12:51159200-51160800	Enhancers	Liver	Liver
5	chr12:51159200-51166400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr12:51159200-51166600	Weak transcription	Fetal Muscle Trunk	muscle
7	chr12:51159200-51174600	Weak transcription	Lung	lung
8	chr12:51159200-51179400	Weak transcription	Aorta	Aorta
9	chr12:51159200-51192600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:51159400-51160800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr12:51159400-51160800	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr12:51159400-51160800	Enhancers	Brain Angular Gyrus	brain
13	chr12:51159400-51161000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr12:51159400-51161000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
15	chr12:51159400-51162000	Enhancers	Primary T cells fromperipheralblood	blood
16	chr12:51159400-51162000	Enhancers	Placenta	Placenta
17	chr12:51159400-51163200	Enhancers	Primary T helper naive cells from peripheral blood	blood
18	chr12:51159400-51163400	Flanking Active TSS	Hela-S3	cervix
19	chr12:51159400-51192600	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr12:51159600-51161200	Weak transcription	Colonic Mucosa	Colon
21	chr12:51159600-51161600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr12:51159600-51163000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr12:51159600-51165000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr12:51159600-51166600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr12:51159600-51189200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr12:51159800-51160800	Enhancers	Primary T cells from cord blood	blood
27	chr12:51159800-51160800	Enhancers	Brain Germinal Matrix	brain
28	chr12:51159800-51161000	Enhancers	Ovary	ovary
29	chr12:51159800-51161000	Enhancers	Thymus	Thymus
30	chr12:51159800-51161800	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr12:51159800-51161800	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr12:51159800-51162400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr12:51159800-51163600	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr12:51159800-51163600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr12:51159800-51164000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr12:51159800-51164400	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr12:51159800-51165200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr12:51159800-51173800	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr12:51159800-51176200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr12:51159800-51178200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr12:51159800-51178400	Weak transcription	NHDF-Ad	bronchial
42	chr12:51159800-51180600	Weak transcription	Fetal Lung	lung
43	chr12:51159800-51189600	Weak transcription	Spleen	Spleen
44	chr12:51159800-51190400	Weak transcription	Fetal Kidney	kidney
45	chr12:51159800-51191200	Weak transcription	Rectal Smooth Muscle	rectum
46	chr12:51160000-51160800	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr12:51160000-51160800	Weak transcription	Stomach Smooth Muscle	stomach
48	chr12:51160000-51160800	Enhancers	Dnd41	blood
49	chr12:51160000-51161000	Weak transcription	Primary hematopoietic stem cells	blood
50	chr12:51160000-51161400	Weak transcription	Rectal Mucosa Donor 29	rectum

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