Variant report

Variant	nsv437756
Chromosome Location	chr12:64392500-64411870
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:20)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:64397033..64398653-chr12:64402137..64404710,2	K562	blood:
2	chr12:64410697..64413143-chr12:64413594..64415107,2	MCF-7	breast:
3	chr12:64401735..64404155-chr12:64409060..64411714,2	MCF-7	breast:
4	chr12:64262850..64264983-chr12:64404690..64407382,2	MCF-7	breast:
5	chr12:64406060..64409789-chr12:64614427..64616806,4	MCF-7	breast:
6	chr12:64383282..64387924-chr12:64391435..64393983,4	MCF-7	breast:
7	chr12:64401735..64404155-chr12:64409060..64411714,2	MCF-7	breast:
8	chr12:64236584..64241512-chr12:64401758..64407787,10	MCF-7	breast:
9	chr12:64402701..64405332-chr12:64614473..64617172,2	MCF-7	breast:
10	chr12:64394276..64396120-chr12:64400937..64402998,2	MCF-7	breast:
11	chr12:64403525..64404317-chr12:64474787..64475607,3	MCF-7	breast:
12	chr12:64397033..64398653-chr12:64402137..64404710,2	K562	blood:
13	chr12:64236732..64239854-chr12:64401083..64405979,5	MCF-7	breast:
14	chr12:64386194..64388353-chr12:64398792..64400563,2	MCF-7	breast:
15	chr12:64394276..64396120-chr12:64400937..64402998,2	MCF-7	breast:
16	chr12:64257643..64259888-chr12:64403526..64405520,2	MCF-7	breast:
17	chr12:64405926..64408433-chr12:64412475..64415328,4	MCF-7	breast:
18	chr12:64395336..64397715-chr5:138219913..138222296,2	MCF-7	breast:
19	chr12:64235421..64238263-chr12:64410167..64414177,3	MCF-7	breast:
20	chr12:64237205..64239783-chr12:64397921..64400316,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TMEM5-3	chr12:64392054-64393594	NONHSAT029126

No data

Variant related genes	Relation type
ENSG00000174206	chromatin interactions
ENSG00000196935	chromatin interactions
ENSG00000044115	chromatin interactions
ENSG00000243024	chromatin interactions

Extended variants
information (count: 661 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:661 , 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	rs7313754	chr12:64392500-64392501	Weak transcription Strong transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs190631996	chr12:64392562-64392563	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
3	rs112866528	chr12:64392586-64392587	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
4	rs113944392	chr12:64392652-64392653	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs79179466	chr12:64392766-64392767	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
6	rs58006550	chr12:64392779-64392780	Weak transcription Strong transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs11175227	chr12:64392795-64392796	Weak transcription Strong transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs71452566	chr12:64392815-64392816	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
9	rs112337531	chr12:64392910-64392911	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
10	rs528806773	chr12:64392913-64392914	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
11	rs548755811	chr12:64392948-64392949	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
12	rs562278813	chr12:64392949-64392950	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
13	rs530614104	chr12:64393025-64393026	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
14	rs550743899	chr12:64393061-64393062	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
15	rs539370895	chr12:64393063-64393064	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
16	rs570440573	chr12:64393071-64393072	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
17	rs539455291	chr12:64393111-64393112	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
18	rs139367059	chr12:64393119-64393120	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
19	rs143288182	chr12:64393155-64393156	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
20	rs113491388	chr12:64393204-64393205	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
21	rs375838902	chr12:64393210-64393211	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
22	rs187115579	chr12:64393230-64393231	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
23	rs113322140	chr12:64393244-64393245	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
24	rs568749761	chr12:64393247-64393248	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
25	rs113083993	chr12:64393257-64393258	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
26	rs537143259	chr12:64393280-64393281	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
27	rs557058441	chr12:64393282-64393283	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
28	rs187705546	chr12:64393283-64393284	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
29	rs80209295	chr12:64393318-64393319	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
30	rs553099113	chr12:64393363-64393364	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
31	rs573444748	chr12:64393382-64393383	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
32	rs144829236	chr12:64393400-64393401	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
33	rs138752282	chr12:64393449-64393450	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
34	rs542587775	chr12:64393455-64393456	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
35	rs192475881	chr12:64393583-64393584	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
36	rs74964680	chr12:64393739-64393740	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs544308951	chr12:64393773-64393774	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs564174546	chr12:64393806-64393807	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs147990906	chr12:64393812-64393813	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs17099988	chr12:64393845-64393846	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs553842794	chr12:64393933-64393934	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs566352127	chr12:64393974-64393975	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs529177754	chr12:64394004-64394005	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs375204504	chr12:64394019-64394020	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs34482820	chr12:64394020-64394021	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs185669257	chr12:64394021-64394022	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs58289093	chr12:64394055-64394056	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs199791976	chr12:64394056-64394057	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs200249193	chr12:64394057-64394058	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs376745172	chr12:64394058-64394059	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
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
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	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
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Leukemia	18628472	CNVD
Phyllodes tumor	17334353	CNVD
Glaucoma	21310917	CNVD
Breast cancer	16272173	CNVD
Mental retardation	19951919	CNVD
Glaucoma	21447600	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Developmental delay	21267005	CNVD
12q14 microdeletion syndrome	21267005	CNVD
Developmental delay	19277063	CNVD
Dwarfism	19277063	CNVD
Fibroblasts	20926602	CNVD
Metanephric adenoma	20802469	CNVD
Follicular lymphoma	18703704	CNVD
Acute myeloid leukemia	21251322	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Multiple myeloma	16616336	CNVD
Lung cancer	16773561	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Mental retardation	17220210	CNVD
Osteopoikilosis	17220210	CNVD
short stature	17220210	CNVD
Burkitt''s lymphoma	20823134	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Ovarian neoplasms	16753589	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	16620391	CNVD

Chromatin state (count:295 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:64362800-64396000	Weak transcription	Psoas Muscle	Psoas
2	chr12:64377200-64400200	Weak transcription	Brain Germinal Matrix	brain
3	chr12:64377800-64396400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr12:64378000-64395200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr12:64379800-64395200	Weak transcription	Fetal Intestine Small	intestine
6	chr12:64380200-64433000	Weak transcription	Fetal Intestine Large	intestine
7	chr12:64382800-64399400	Weak transcription	HUVEC	blood vessel
8	chr12:64382800-64432800	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr12:64383000-64401200	Weak transcription	Fetal Muscle Trunk	muscle
10	chr12:64383600-64393000	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr12:64383600-64397600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr12:64383800-64425400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr12:64384600-64404000	Weak transcription	Stomach Smooth Muscle	stomach
14	chr12:64384800-64394800	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr12:64385000-64401000	Weak transcription	Ovary	ovary
16	chr12:64385000-64408800	Weak transcription	Hela-S3	cervix
17	chr12:64385000-64425600	Weak transcription	Left Ventricle	heart
18	chr12:64385200-64399600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr12:64385800-64399600	Weak transcription	NH-A	brain
20	chr12:64386400-64395200	Weak transcription	Brain Cingulate Gyrus	brain
21	chr12:64386400-64395600	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr12:64386600-64400000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr12:64386800-64395200	Weak transcription	Right Atrium	heart
24	chr12:64386800-64397800	Weak transcription	Brain Angular Gyrus	brain
25	chr12:64386800-64403600	Weak transcription	Brain Substantia Nigra	brain
26	chr12:64386800-64404200	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr12:64387400-64396000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr12:64388800-64392800	Weak transcription	Adipose Nuclei	Adipose
29	chr12:64388800-64393200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr12:64388800-64394400	Weak transcription	Fetal Brain Female	brain
31	chr12:64388800-64399000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr12:64388800-64399800	Weak transcription	Brain Hippocampus Middle	brain
33	chr12:64388800-64400200	Weak transcription	Fetal Brain Male	brain
34	chr12:64388800-64429800	Weak transcription	Pancreas	Pancrea
35	chr12:64389200-64400000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr12:64389400-64393000	Weak transcription	Brain Anterior Caudate	brain
37	chr12:64389400-64419200	Weak transcription	Fetal Kidney	kidney
38	chr12:64389400-64419200	Weak transcription	Fetal Lung	lung
39	chr12:64389600-64395600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr12:64389600-64398200	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr12:64389600-64398200	Weak transcription	Osteobl	bone
42	chr12:64389600-64417400	Weak transcription	Fetal Muscle Leg	muscle
43	chr12:64389800-64392800	Weak transcription	A549	lung
44	chr12:64390000-64393400	Strong transcription	NHDF-Ad	bronchial
45	chr12:64390800-64392600	Strong transcription	HSMM	muscle
46	chr12:64391000-64394000	Strong transcription	NHLF	lung
47	chr12:64391200-64395200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr12:64391200-64395200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr12:64391400-64394200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr12:64391600-64393800	Strong transcription	HSMMtube	muscle

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