Variant report

Variant	esv3527701
Chromosome Location	chr12:51215835-51219508
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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:51219126..51219822-chr12:51379841..51381362,5	MCF-7	breast:
2	chr12:51215681..51217224-chr12:51232031..51234390,2	K562	blood:
3	chr12:51157232..51159790-chr12:51217662..51220370,4	MCF-7	breast:
4	chr12:51219278..51219813-chr12:51735276..51735836,2	K562	blood:
5	chr12:50793039..50794712-chr12:51216768..51219272,2	K562	blood:
6	chr12:51206635..51209642-chr12:51213405..51216758,3	K562	blood:
7	chr12:51212786..51214358-chr12:51219133..51221117,2	K562	blood:
8	chr12:51218827..51219730-chr12:51421603..51422600,3	MCF-7	breast:
9	chr12:51216774..51221510-chr12:51379576..51384198,5	MCF-7	breast:
10	chr12:51218890..51219846-chr12:51380451..51381461,7	MCF-7	breast:
11	chr12:51218257..51221554-chr12:51475850..51478812,3	MCF-7	breast:
12	chr12:51216775..51221102-chr12:51419333..51421670,3	K562	blood:
13	chr12:51218097..51220673-chr12:51419291..51422139,4	MCF-7	breast:
14	chr12:51219096..51220890-chr12:51222074..51224257,2	MCF-7	breast:
15	chr12:51218193..51220790-chr12:51416290..51419028,2	K562	blood:
16	chr12:51184951..51187491-chr12:51218198..51219760,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000123268	chromatin interactions
ENSG00000110925	chromatin interactions
ENSG00000110911	chromatin interactions
ENSG00000161813	chromatin interactions

Extended variants
information (count: 170 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:170 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539070151	chr12:51215890-51215891	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs552596018	chr12:51215948-51215949	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs371343079	chr12:51215976-51215977	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs373242202	chr12:51216004-51216005	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs182752327	chr12:51216015-51216016	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs554872010	chr12:51216040-51216041	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs574941666	chr12:51216075-51216076	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs146352661	chr12:51216091-51216092	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs555040649	chr12:51216115-51216116	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs553476926	chr12:51216163-51216164	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs187853089	chr12:51216174-51216175	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs190815381	chr12:51216193-51216194	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs529978514	chr12:51216197-51216198	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs568421604	chr12:51216213-51216214	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs139350905	chr12:51216214-51216215	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs182319592	chr12:51216233-51216234	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs149622161	chr12:51216237-51216238	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs553368144	chr12:51216249-51216250	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs542074477	chr12:51216273-51216274	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs118100115	chr12:51216295-51216296	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs527509551	chr12:51216314-51216315	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs547260648	chr12:51216326-51216327	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs560609025	chr12:51216341-51216342	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs552301273	chr12:51216401-51216402	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs532649115	chr12:51216406-51216407	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs373839440	chr12:51216415-51216416	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs187572182	chr12:51216438-51216439	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs539275080	chr12:51216462-51216463	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs531926114	chr12:51216492-51216493	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs547953357	chr12:51216512-51216513	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs548834172	chr12:51216516-51216517	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs568635856	chr12:51216553-51216554	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs534435922	chr12:51216555-51216556	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs193007973	chr12:51216556-51216557	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs566114575	chr12:51216561-51216562	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs570218637	chr12:51216574-51216575	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs144389612	chr12:51216610-51216611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs184785584	chr12:51216657-51216658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs35606381	chr12:51216659-51216660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs148808143	chr12:51216712-51216713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs541440188	chr12:51216723-51216724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs555669110	chr12:51216801-51216802	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs562748247	chr12:51216824-51216825	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs368036184	chr12:51216843-51216844	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs11169572	chr12:51216890-51216891	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs564225438	chr12:51216891-51216892	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs373789669	chr12:51216940-51216941	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs554927055	chr12:51216944-51216945	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs188102510	chr12:51216947-51216948	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs117384790	chr12:51216992-51216993	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
Ependymoma	20639864	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:177 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51200600-51222200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr12:51205000-51228200	Weak transcription	Gastric	stomach
3	chr12:51205200-51217600	Weak transcription	Psoas Muscle	Psoas
4	chr12:51208000-51219000	Weak transcription	Stomach Mucosa	stomach
5	chr12:51208400-51216600	Weak transcription	GM12878-XiMat	blood
6	chr12:51208400-51218800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr12:51208400-51219000	Weak transcription	HSMMtube	muscle
8	chr12:51208400-51219000	Weak transcription	NHLF	lung
9	chr12:51208600-51219000	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr12:51209800-51219000	Weak transcription	Fetal Kidney	kidney
11	chr12:51210200-51222000	Weak transcription	Esophagus	oesophagus
12	chr12:51210400-51217800	Weak transcription	Primary hematopoietic stem cells	blood
13	chr12:51210400-51218200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr12:51210400-51219000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr12:51210600-51219000	Weak transcription	Rectal Smooth Muscle	rectum
16	chr12:51210600-51222000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr12:51210600-51223400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr12:51210800-51218800	Weak transcription	HMEC	breast
19	chr12:51210800-51218800	Weak transcription	NHEK	skin
20	chr12:51211000-51218800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr12:51211000-51218800	Weak transcription	Brain Anterior Caudate	brain
22	chr12:51211000-51218800	Weak transcription	Brain Substantia Nigra	brain
23	chr12:51211000-51218800	Weak transcription	K562	blood
24	chr12:51211000-51219000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr12:51211000-51222000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr12:51211000-51222000	Weak transcription	Brain Cingulate Gyrus	brain
27	chr12:51211800-51218600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr12:51212200-51216000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr12:51212200-51216800	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr12:51212200-51218000	Weak transcription	HepG2	liver
31	chr12:51212200-51218800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr12:51212200-51218800	Weak transcription	Colon Smooth Muscle	Colon
33	chr12:51212200-51219000	Weak transcription	Fetal Intestine Large	intestine
34	chr12:51212200-51219400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr12:51212200-51219400	Weak transcription	Aorta	Aorta
36	chr12:51212200-51219400	Weak transcription	Ovary	ovary
37	chr12:51212400-51216800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr12:51212400-51218800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr12:51212400-51218800	Weak transcription	Fetal Muscle Trunk	muscle
40	chr12:51212400-51219000	Weak transcription	A549	lung
41	chr12:51212400-51219600	Weak transcription	Fetal Lung	lung
42	chr12:51213000-51216800	Weak transcription	HSMM	muscle
43	chr12:51213000-51216800	Weak transcription	NH-A	brain
44	chr12:51213000-51219000	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr12:51213000-51219000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr12:51213200-51218800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr12:51213200-51218800	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr12:51213200-51219000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr12:51213200-51219000	Weak transcription	Brain Hippocampus Middle	brain
50	chr12:51213200-51219000	Weak transcription	Thymus	Thymus

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