Variant report

Variant	nsv559201
Chromosome Location	chr12:64333212-64366408
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:0)
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	chr12:64362929..64364483-chr12:64366309..64367856,2	MCF-7	breast:
2	chr12:64335711..64337439-chr12:64340636..64343314,2	MCF-7	breast:
3	chr12:64361242..64364159-chr12:64364503..64367184,2	MCF-7	breast:
4	chr12:64348224..64350192-chr12:64359739..64362105,2	MCF-7	breast:
5	chr12:64329679..64331420-chr12:64342919..64345262,2	MCF-7	breast:
6	chr12:64356528..64360671-chr12:64362501..64365112,4	MCF-7	breast:
7	chr12:64350699..64353399-chr12:64355633..64359154,3	K562	blood:
8	chr12:64348224..64350192-chr12:64359739..64362105,2	MCF-7	breast:
9	chr12:64361242..64364159-chr12:64364503..64367184,2	MCF-7	breast:
10	chr12:64356528..64360671-chr12:64362501..64365112,4	MCF-7	breast:
11	chr12:64238259..64239781-chr12:64360644..64362530,2	MCF-7	breast:
12	chr12:64350699..64353399-chr12:64355633..64359154,3	K562	blood:
13	chr12:64360379..64362795-chr12:64366737..64368794,2	MCF-7	breast:
14	chr12:64353947..64356633-chr12:64510902..64512788,2	MCF-7	breast:
15	chr12:64335711..64337439-chr12:64340636..64343314,2	MCF-7	breast:
16	chr12:64362929..64364483-chr12:64366309..64367856,2	MCF-7	breast:
17	chr12:64366069..64368652-chr12:64370868..64372528,3	MCF-7	breast:
18	chr12:64319485..64321030-chr12:64334401..64337010,2	K562	blood:
19	chr12:64239389..64242178-chr12:64352043..64353568,2	MCF-7	breast:
20	chr12:64314910..64316647-chr12:64343896..64345595,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000196935	chromatin interactions

Extended variants
information (count: 1227 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:1227 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1989584	chr12:64333212-64333213	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs74099392	chr12:64333220-64333221	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs182366530	chr12:64333245-64333246	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs146892930	chr12:64333246-64333247	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs541699754	chr12:64333250-64333251	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs544430011	chr12:64333256-64333257	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs113277266	chr12:64333335-64333336	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs140582185	chr12:64333370-64333371	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs150300701	chr12:64333372-64333373	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs35350257	chr12:64333379-64333380	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs376253561	chr12:64333425-64333426	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs185493185	chr12:64333494-64333495	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs189676750	chr12:64333495-64333496	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs528119482	chr12:64333529-64333530	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs182755567	chr12:64333584-64333585	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs74099393	chr12:64333597-64333598	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs568674361	chr12:64333629-64333630	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs7973936	chr12:64333645-64333646	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs144877153	chr12:64333670-64333671	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs550763319	chr12:64333671-64333672	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs544146679	chr12:64333692-64333693	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs564072689	chr12:64333747-64333748	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs376522953	chr12:64333780-64333781	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs539185535	chr12:64333781-64333782	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs546260266	chr12:64333793-64333794	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs370659473	chr12:64333824-64333825	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs533037294	chr12:64333834-64333835	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs535121936	chr12:64333845-64333846	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs201121600	chr12:64333848-64333849	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs60249053	chr12:64333856-64333857	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs575614421	chr12:64333868-64333869	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs372661386	chr12:64333915-64333916	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs368774290	chr12:64333928-64333929	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs547248902	chr12:64333944-64333945	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs188961956	chr12:64333950-64333951	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs149027323	chr12:64333951-64333952	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs546306009	chr12:64333962-64333963	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs559613395	chr12:64333976-64333977	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs193136520	chr12:64333988-64333989	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs541866890	chr12:64333990-64333991	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs561996100	chr12:64334012-64334013	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs529478850	chr12:64334090-64334091	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs140140921	chr12:64334183-64334184	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs550749262	chr12:64334231-64334232	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs7977480	chr12:64334251-64334252	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs112771267	chr12:64334270-64334271	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs544777838	chr12:64334409-64334410	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs546643283	chr12:64334519-64334520	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs566456024	chr12:64334520-64334521	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs535384778	chr12:64334540-64334541	Enhancers Weak transcription Genic enhancers Flanking Active TSS 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:874 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:64298800-64334000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr12:64312400-64385000	Weak transcription	Aorta	Aorta
3	chr12:64313000-64334400	Weak transcription	Psoas Muscle	Psoas
4	chr12:64313200-64334400	Weak transcription	Pancreas	Pancrea
5	chr12:64316600-64338400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr12:64323000-64333800	Weak transcription	Ovary	ovary
7	chr12:64325400-64334200	Weak transcription	Fetal Lung	lung
8	chr12:64325400-64334200	Weak transcription	NH-A	brain
9	chr12:64325400-64334400	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr12:64328000-64339800	Enhancers	Fetal Brain Male	brain
11	chr12:64328200-64334400	Weak transcription	Lung	lung
12	chr12:64328400-64339600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr12:64328600-64334200	Weak transcription	Brain Germinal Matrix	brain
14	chr12:64328800-64360800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr12:64329000-64336400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr12:64329000-64342200	Weak transcription	Hela-S3	cervix
17	chr12:64329400-64339400	Weak transcription	HMEC	breast
18	chr12:64329600-64333800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr12:64329800-64343800	Weak transcription	Osteobl	bone
20	chr12:64330000-64342000	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr12:64330000-64343800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr12:64330200-64338400	Weak transcription	Fetal Stomach	stomach
23	chr12:64330400-64346800	Weak transcription	Gastric	stomach
24	chr12:64330600-64334400	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr12:64330600-64334600	Weak transcription	Esophagus	oesophagus
26	chr12:64330800-64333600	Weak transcription	Fetal Intestine Large	intestine
27	chr12:64331200-64334400	Enhancers	Brain Anterior Caudate	brain
28	chr12:64331400-64334800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr12:64332000-64333600	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr12:64332000-64334000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr12:64332000-64334000	Weak transcription	Fetal Brain Female	brain
32	chr12:64332000-64334400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr12:64332000-64335000	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr12:64332000-64335800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr12:64332000-64339200	Weak transcription	NHLF	lung
36	chr12:64332200-64333600	Weak transcription	Brain Angular Gyrus	brain
37	chr12:64332200-64333800	Weak transcription	Fetal Muscle Trunk	muscle
38	chr12:64332200-64333800	Weak transcription	Fetal Muscle Leg	muscle
39	chr12:64332200-64333800	Weak transcription	Left Ventricle	heart
40	chr12:64332200-64334000	Weak transcription	Right Atrium	heart
41	chr12:64332200-64334400	Weak transcription	Fetal Intestine Small	intestine
42	chr12:64332200-64334800	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr12:64332200-64335800	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr12:64332200-64337200	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr12:64332200-64343800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr12:64332400-64333400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr12:64332400-64333400	Weak transcription	Adipose Nuclei	Adipose
48	chr12:64332400-64333400	Weak transcription	Brain Hippocampus Middle	brain
49	chr12:64332400-64333600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr12:64332400-64333600	Enhancers	NHDF-Ad	bronchial

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