Variant report

Variant	nsv559051
Chromosome Location	chr12:59504600-59542117
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:11)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:58934011..58934535-chr12:59507466..59507984,2	MCF-7	breast:
2	chr12:59507135..59508358-chr12:59543262..59544671,18	MCF-7	breast:
3	chr12:59507288..59508240-chr12:61932726..61933441,2	MCF-7	breast:
4	chr12:59537940..59539473-chr12:59543587..59545089,2	MCF-7	breast:
5	chr12:59507234..59507853-chr12:59766386..59767199,2	MCF-7	breast:
6	chr12:59506527..59507272-chr12:59543925..59544447,2	MCF-7	breast:
7	chr12:59507415..59508147-chr12:59543545..59544473,6	MCF-7	breast:
8	chr12:59507585..59508107-chr12:59766521..59767200,2	MCF-7	breast:
9	chr12:59506961..59508922-chr12:59510527..59512982,3	MCF-7	breast:
10	chr12:59506961..59508922-chr12:59510527..59512982,3	MCF-7	breast:
11	chr12:59507468..59508144-chr12:59801341..59801884,3	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-362K2.2.1-2	chr12:59523275-59523600	XLOC_009782
2	lnc-RP11-362K2.2.1-2	chr12:59524433-59524642	XLOC_009782

No data

Extended variants
information (count: 1023 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:1023 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7485424	chr12:59504600-59504601	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs531002842	chr12:59504601-59504602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs146734262	chr12:59504675-59504676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs113129261	chr12:59504706-59504707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs541429564	chr12:59504718-59504719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs570855178	chr12:59504722-59504723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs532241418	chr12:59504777-59504778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs535057620	chr12:59504783-59504784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs139287252	chr12:59504807-59504808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs149915169	chr12:59504838-59504839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs535406091	chr12:59504844-59504845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs144945065	chr12:59504853-59504854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs528973228	chr12:59504858-59504859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs557082587	chr12:59504863-59504864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs575384837	chr12:59504919-59504920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs539498589	chr12:59504967-59504968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs528242435	chr12:59504989-59504990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs180883441	chr12:59505017-59505018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs572496555	chr12:59505069-59505070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs578162367	chr12:59505081-59505082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs539805018	chr12:59505111-59505112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs561353173	chr12:59505142-59505143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs575051638	chr12:59505148-59505149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs375786379	chr12:59505174-59505175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs542176076	chr12:59505191-59505192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs113817311	chr12:59505221-59505222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs563882051	chr12:59505248-59505249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs531057074	chr12:59505271-59505272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs546267047	chr12:59505278-59505279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs35082221	chr12:59505281-59505282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs564529062	chr12:59505286-59505287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs149033843	chr12:59505327-59505328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs77393372	chr12:59505413-59505414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs143005536	chr12:59505433-59505434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs529171002	chr12:59505447-59505448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs370410811	chr12:59505453-59505454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs77895319	chr12:59505463-59505464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs569031647	chr12:59505505-59505506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs118101306	chr12:59505512-59505513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs185290607	chr12:59505534-59505535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs191514587	chr12:59505556-59505557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs533666749	chr12:59505590-59505591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs571190084	chr12:59505651-59505652	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs534120583	chr12:59505666-59505667	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs554909359	chr12:59505674-59505675	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs376651075	chr12:59505747-59505748	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs573591810	chr12:59505832-59505833	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs371626326	chr12:59505841-59505842	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs151330273	chr12:59505849-59505850	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs557407164	chr12:59505879-59505880	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
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
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Metanephric adenoma	20802469	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Urothelial cell carcinoma	18451213	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Leukemia	18628472	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Myelofibrosis	22110671	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
Follicular lymphoma	18703704	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	20080666	CNVD
Medulloblastoma	19270706	CNVD
Breast cancer	17133270	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Glioblastoma	17090523	CNVD
Multiple myeloma	16616336	CNVD
Lung cancer	16773561	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Breast cancer	21364760	CNVD
Chronic lymphocytic leukemia	21215367	CNVD

Chromatin state (count:159 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:59497200-59513400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr12:59501200-59513200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr12:59502000-59505800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:59502600-59505800	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr12:59503800-59505600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr12:59505600-59506200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr12:59505800-59506000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr12:59505800-59506000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr12:59505800-59506000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr12:59505800-59506000	Enhancers	Fetal Intestine Large	intestine
11	chr12:59505800-59506200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr12:59505800-59506200	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr12:59506000-59506200	Enhancers	Fetal Intestine Small	intestine
14	chr12:59506000-59517400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr12:59506200-59508000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr12:59506200-59509400	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr12:59507400-59508200	Enhancers	Dnd41	blood
18	chr12:59507600-59507800	Enhancers	Brain Anterior Caudate	brain
19	chr12:59507600-59507800	Enhancers	Brain Hippocampus Middle	brain
20	chr12:59507600-59507800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
21	chr12:59507600-59507800	Enhancers	Brain Substantia Nigra	brain
22	chr12:59507600-59507800	Enhancers	Stomach Smooth Muscle	stomach
23	chr12:59507800-59508000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr12:59507800-59508000	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr12:59507800-59508000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr12:59507800-59508000	Enhancers	Brain Angular Gyrus	brain
27	chr12:59507800-59508000	Enhancers	Brain Cingulate Gyrus	brain
28	chr12:59507800-59508000	Enhancers	Duodenum Mucosa	Duodenum
29	chr12:59507800-59508000	Enhancers	Rectal Smooth Muscle	rectum
30	chr12:59507800-59508200	Enhancers	H1 Cell Line	embryonic stem cell
31	chr12:59507800-59508200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr12:59507800-59508200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr12:59507800-59508200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr12:59507800-59508200	Enhancers	Adipose Nuclei	Adipose
35	chr12:59507800-59508200	Flanking Active TSS	Brain Anterior Caudate	brain
36	chr12:59507800-59508200	Flanking Active TSS	Brain Hippocampus Middle	brain
37	chr12:59507800-59508200	Enhancers	Brain Inferior Temporal Lobe	brain
38	chr12:59507800-59508200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
39	chr12:59507800-59508200	Flanking Active TSS	Brain Substantia Nigra	brain
40	chr12:59507800-59508200	Enhancers	Esophagus	oesophagus
41	chr12:59507800-59508200	Enhancers	Fetal Brain Female	brain
42	chr12:59507800-59508200	Enhancers	Fetal Lung	lung
43	chr12:59507800-59508200	Enhancers	Fetal Muscle Trunk	muscle
44	chr12:59507800-59508200	Enhancers	Fetal Muscle Leg	muscle
45	chr12:59507800-59508200	Enhancers	Pancreas	Pancrea
46	chr12:59507800-59508200	Enhancers	Right Atrium	heart
47	chr12:59507800-59508200	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr12:59507800-59508200	Enhancers	Stomach Mucosa	stomach
49	chr12:59507800-59508200	Flanking Active TSS	Stomach Smooth Muscle	stomach
50	chr12:59507800-59508200	Flanking Active TSS	HepG2	liver

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