Variant report

Variant	nsv558870
Chromosome Location	chr12:51216971-51218114
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:51216774..51221510-chr12:51379576..51384198,5	MCF-7	breast:
2	chr12:51157232..51159790-chr12:51217662..51220370,4	MCF-7	breast:
3	chr12:51216775..51221102-chr12:51419333..51421670,3	K562	blood:
4	chr12:50793039..50794712-chr12:51216768..51219272,2	K562	blood:
5	chr12:51215681..51217224-chr12:51232031..51234390,2	K562	blood:
6	chr12:51218097..51220673-chr12:51419291..51422139,4	MCF-7	breast:

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

Extended variants
information (count: 64 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:64 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs117384790	chr12:51216992-51216993	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs562891777	chr12:51217124-51217125	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs67934435	chr12:51217184-51217185	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs568430647	chr12:51217190-51217191	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs548270975	chr12:51217226-51217227	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs375664668	chr12:51217227-51217228	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs568773204	chr12:51217234-51217235	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs368356911	chr12:51217236-51217237	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs534186394	chr12:51217245-51217246	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs547596467	chr12:51217269-51217270	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs10689430	chr12:51217303-51217304	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs57737077	chr12:51217311-51217312	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs377565968	chr12:51217315-51217316	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs55899731	chr12:51217317-51217318	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs67691165	chr12:51217318-51217319	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs11169573	chr12:51217321-51217322	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs11169574	chr12:51217322-51217323	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs575916019	chr12:51217328-51217329	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs372410723	chr12:51217331-51217332	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs374827083	chr12:51217334-51217335	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs373375730	chr12:51217336-51217337	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs28701573	chr12:51217337-51217338	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs377532634	chr12:51217341-51217342	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs28479207	chr12:51217351-51217352	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs76839862	chr12:51217359-51217360	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs192221037	chr12:51217362-51217363	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	mRNA abundance
27	rs11169575	chr12:51217365-51217366	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs11169576	chr12:51217366-51217367	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs370703281	chr12:51217372-51217373	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs28429342	chr12:51217373-51217374	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs375470411	chr12:51217380-51217381	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs201502432	chr12:51217401-51217402	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs71086486	chr12:51217405-51217406	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs144116452	chr12:51217406-51217407	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs570681010	chr12:51217413-51217414	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs558485914	chr12:51217417-51217418	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs71086487	chr12:51217418-51217419	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs370088750	chr12:51217419-51217420	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs184450106	chr12:51217421-51217422	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs28434261	chr12:51217436-51217437	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs555870818	chr12:51217442-51217443	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs569636235	chr12:51217494-51217495	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs116147540	chr12:51217507-51217508	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs555065895	chr12:51217564-51217565	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs189598931	chr12:51217590-51217591	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs541286439	chr12:51217608-51217609	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs558000002	chr12:51217646-51217647	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs139945720	chr12:51217650-51217651	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs113273205	chr12:51217691-51217692	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs543618875	chr12:51217706-51217707	Weak transcription Enhancers	Chromatin interactive region	3 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:87 , 50 per page) page: 1 2

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	chr12:51208400-51218800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr12:51208400-51219000	Weak transcription	HSMMtube	muscle
7	chr12:51208400-51219000	Weak transcription	NHLF	lung
8	chr12:51208600-51219000	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr12:51209800-51219000	Weak transcription	Fetal Kidney	kidney
10	chr12:51210200-51222000	Weak transcription	Esophagus	oesophagus
11	chr12:51210400-51217800	Weak transcription	Primary hematopoietic stem cells	blood
12	chr12:51210400-51218200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr12:51210400-51219000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr12:51210600-51219000	Weak transcription	Rectal Smooth Muscle	rectum
15	chr12:51210600-51222000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr12:51210600-51223400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr12:51210800-51218800	Weak transcription	HMEC	breast
18	chr12:51210800-51218800	Weak transcription	NHEK	skin
19	chr12:51211000-51218800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr12:51211000-51218800	Weak transcription	Brain Anterior Caudate	brain
21	chr12:51211000-51218800	Weak transcription	Brain Substantia Nigra	brain
22	chr12:51211000-51218800	Weak transcription	K562	blood
23	chr12:51211000-51219000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr12:51211000-51222000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr12:51211000-51222000	Weak transcription	Brain Cingulate Gyrus	brain
26	chr12:51211800-51218600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr12:51212200-51218000	Weak transcription	HepG2	liver
28	chr12:51212200-51218800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr12:51212200-51218800	Weak transcription	Colon Smooth Muscle	Colon
30	chr12:51212200-51219000	Weak transcription	Fetal Intestine Large	intestine
31	chr12:51212200-51219400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr12:51212200-51219400	Weak transcription	Aorta	Aorta
33	chr12:51212200-51219400	Weak transcription	Ovary	ovary
34	chr12:51212400-51218800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr12:51212400-51218800	Weak transcription	Fetal Muscle Trunk	muscle
36	chr12:51212400-51219000	Weak transcription	A549	lung
37	chr12:51212400-51219600	Weak transcription	Fetal Lung	lung
38	chr12:51213000-51219000	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr12:51213000-51219000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr12:51213200-51218800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr12:51213200-51218800	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr12:51213200-51219000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr12:51213200-51219000	Weak transcription	Brain Hippocampus Middle	brain
44	chr12:51213200-51219000	Weak transcription	Thymus	Thymus
45	chr12:51213200-51219400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr12:51213200-51222200	Weak transcription	Fetal Muscle Leg	muscle
47	chr12:51213400-51217000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr12:51213400-51217600	Weak transcription	Primary B cells from cord blood	blood
49	chr12:51213400-51218600	Weak transcription	Stomach Smooth Muscle	stomach
50	chr12:51213400-51219400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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