Variant report

Variant	nsv527742
Chromosome Location	chr12:63078183-63084312
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:63077645..63079801-chr12:63080578..63082441,2	K562	blood:
2	chr12:63077508..63079234-chr12:63080759..63082975,2	MCF-7	breast:
3	chr12:63077645..63079801-chr12:63080578..63082441,2	K562	blood:
4	chr12:63071741..63073934-chr12:63080456..63082263,2	MCF-7	breast:
5	chr12:63080648..63083389-chr12:63085536..63088456,3	MCF-7	breast:
6	chr12:63077508..63079234-chr12:63080759..63082975,2	MCF-7	breast:
7	chr12:63083624..63086955-chr12:63088722..63092795,3	MCF-7	breast:

Extended variants
information (count: 252 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:252 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11174601	chr12:63078183-63078184	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs202044608	chr12:63078245-63078246	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs541879883	chr12:63078249-63078250	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs80340799	chr12:63078268-63078269	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs575634472	chr12:63078280-63078281	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs544373887	chr12:63078462-63078463	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs148718803	chr12:63078486-63078487	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs549703905	chr12:63078503-63078504	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs539858195	chr12:63078565-63078566	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs76727657	chr12:63078574-63078575	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs552366986	chr12:63078577-63078578	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs190118185	chr12:63078600-63078601	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs142305646	chr12:63078607-63078608	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs182764322	chr12:63078608-63078609	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs568103373	chr12:63078615-63078616	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs537029009	chr12:63078633-63078634	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs557398505	chr12:63078638-63078639	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs577488711	chr12:63078639-63078640	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs368097442	chr12:63078768-63078769	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs539709166	chr12:63078794-63078795	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs564596745	chr12:63078804-63078805	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs532327798	chr12:63078807-63078808	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs377477959	chr12:63078841-63078842	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs541965587	chr12:63078846-63078847	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs186626820	chr12:63078897-63078898	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs561835629	chr12:63078944-63078945	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs545984959	chr12:63078946-63078947	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs544176459	chr12:63078947-63078948	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs564292316	chr12:63078953-63078954	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs532448309	chr12:63078957-63078958	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs552144406	chr12:63078964-63078965	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs80305679	chr12:63078965-63078966	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs559612196	chr12:63078976-63078977	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs528288535	chr12:63078985-63078986	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs192678758	chr12:63079022-63079023	Enhancers Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs568141505	chr12:63079031-63079032	Enhancers Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs537115981	chr12:63079054-63079055	Enhancers Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs375876595	chr12:63079106-63079107	Enhancers Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs151277892	chr12:63079122-63079123	Enhancers Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs570312112	chr12:63079125-63079126	Enhancers Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs17098170	chr12:63079164-63079165	Enhancers Weak transcription Strong transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs548475046	chr12:63079251-63079252	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs184528779	chr12:63079255-63079256	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs532022013	chr12:63079320-63079321	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs140648670	chr12:63079332-63079333	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs535636171	chr12:63079385-63079386	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs555466988	chr12:63079461-63079462	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs575353510	chr12:63079494-63079495	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs544341329	chr12:63079504-63079505	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs188961588	chr12:63079590-63079591	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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	19602461	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
Hodgkin''s lymphoma	18179710	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
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
Man infertility	21397064	CNVD
Mental retardation	17220210	CNVD
Osteopoikilosis	17220210	CNVD
short stature	17220210	CNVD
Burkitt''s lymphoma	20823134	CNVD
abnormal development	18461090	CNVD

Chromatin state (count:222 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:63067400-63116800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr12:63068800-63102800	Weak transcription	Right Ventricle	heart
3	chr12:63069400-63096600	Weak transcription	Fetal Kidney	kidney
4	chr12:63071000-63078600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr12:63071400-63083200	Weak transcription	Gastric	stomach
6	chr12:63071400-63087000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr12:63071600-63079000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr12:63071600-63079800	Weak transcription	Fetal Intestine Large	intestine
9	chr12:63071600-63087000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr12:63071600-63096400	Weak transcription	Left Ventricle	heart
11	chr12:63072000-63082000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr12:63072000-63082400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr12:63072000-63089200	Weak transcription	Primary hematopoietic stem cells	blood
14	chr12:63072200-63078800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr12:63072400-63079000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr12:63074000-63086200	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr12:63074200-63092000	Strong transcription	HepG2	liver
18	chr12:63074600-63096400	Weak transcription	Pancreas	Pancrea
19	chr12:63075600-63081400	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr12:63076200-63081200	Enhancers	Fetal Muscle Leg	muscle
21	chr12:63076200-63081400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr12:63076400-63078400	Enhancers	Adipose Nuclei	Adipose
23	chr12:63077000-63078600	Flanking Active TSS	Stomach Smooth Muscle	stomach
24	chr12:63077000-63079200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr12:63077000-63079400	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr12:63077000-63079400	Enhancers	Fetal Stomach	stomach
27	chr12:63077000-63079400	Enhancers	NHLF	lung
28	chr12:63077200-63078200	Enhancers	Rectal Smooth Muscle	rectum
29	chr12:63077200-63078400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr12:63077200-63078800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr12:63077200-63079200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr12:63077200-63079200	Enhancers	Brain Hippocampus Middle	brain
33	chr12:63077200-63079200	Enhancers	Brain Substantia Nigra	brain
34	chr12:63077200-63079200	Enhancers	Colon Smooth Muscle	Colon
35	chr12:63077200-63079400	Enhancers	Osteobl	bone
36	chr12:63077400-63078200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr12:63077400-63078200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr12:63077400-63078200	Enhancers	Fetal Muscle Trunk	muscle
39	chr12:63077400-63078200	Enhancers	Right Atrium	heart
40	chr12:63077400-63078600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr12:63077400-63078600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr12:63077400-63078600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr12:63077400-63078600	Enhancers	Brain Angular Gyrus	brain
44	chr12:63077400-63078600	Enhancers	HMEC	breast
45	chr12:63077400-63078800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr12:63077400-63078800	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr12:63077400-63078800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
48	chr12:63077400-63079200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr12:63077400-63079200	Enhancers	Brain Anterior Caudate	brain
50	chr12:63077400-63079200	Enhancers	Brain Cingulate Gyrus	brain

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