Variant report

Variant	nsv559554
Chromosome Location	chr12:83169297-83206342
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:83193010..83196119-chr12:83198103..83200087,3	MCF-7	breast:
2	chr12:83179690..83182386-chr12:83184682..83186402,2	K562	blood:
3	chr12:83080290..83082934-chr12:83176093..83178642,2	MCF-7	breast:
4	chr12:83079969..83082469-chr12:83197012..83198643,2	MCF-7	breast:
5	chr12:83180286..83182818-chr12:83185863..83187878,2	MCF-7	breast:
6	chr12:83168957..83170901-chr12:83176146..83179018,2	K562	blood:
7	chr12:83179690..83182386-chr12:83183697..83186402,3	K562	blood:
8	chr12:83193010..83196119-chr12:83198103..83200087,3	MCF-7	breast:
9	chr12:83163920..83166046-chr12:83167573..83169394,2	MCF-7	breast:
10	chr12:83180286..83182818-chr12:83185863..83187878,2	MCF-7	breast:
11	chr12:83168957..83170901-chr12:83176146..83179018,2	K562	blood:
12	chr12:83179690..83182386-chr12:83184682..83186402,2	K562	blood:
13	chr12:83179690..83182386-chr12:83183697..83186402,3	K562	blood:
14	chr12:83149723..83152212-chr12:83167569..83170218,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000179104	chromatin interactions

Extended variants
information (count: 1411 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:1411 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10082955	chr12:83169297-83169298	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs557525298	chr12:83169398-83169399	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs190870718	chr12:83169405-83169406	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs548216118	chr12:83169436-83169437	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs145875940	chr12:83169446-83169447	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs536869968	chr12:83169490-83169491	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs34436935	chr12:83169532-83169533	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs11115414	chr12:83169533-83169534	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs570567247	chr12:83169539-83169540	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs180690793	chr12:83169551-83169552	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs565510991	chr12:83169574-83169575	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs552999566	chr12:83169621-83169622	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs574375596	chr12:83169624-83169625	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs186381852	chr12:83169632-83169633	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs191386656	chr12:83169636-83169637	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs563888848	chr12:83169641-83169642	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs386764743	chr12:83169664-83169665	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs183059389	chr12:83169700-83169701	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs546083152	chr12:83169736-83169737	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs199797917	chr12:83169765-83169766	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs200853346	chr12:83169771-83169772	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs564199919	chr12:83169774-83169775	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs528556958	chr12:83169791-83169792	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs540376151	chr12:83169796-83169797	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs12425645	chr12:83169838-83169839	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs187300921	chr12:83169873-83169874	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs149023952	chr12:83169874-83169875	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs11115415	chr12:83169878-83169879	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs191035719	chr12:83169884-83169885	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs11115416	chr12:83169892-83169893	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs370076220	chr12:83169917-83169918	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs11115417	chr12:83169931-83169932	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs11115418	chr12:83169950-83169951	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs370076178	chr12:83169951-83169952	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs553136300	chr12:83169973-83169974	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs142066182	chr12:83170008-83170009	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs535125944	chr12:83170067-83170068	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs557584887	chr12:83170137-83170138	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs570019810	chr12:83170141-83170142	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs147785145	chr12:83170247-83170248	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs546127243	chr12:83170282-83170283	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs183346190	chr12:83170286-83170287	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs573129614	chr12:83170288-83170289	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs540314548	chr12:83170314-83170315	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs188857822	chr12:83170339-83170340	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs144344879	chr12:83170358-83170359	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs567559897	chr12:83170364-83170365	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs544285626	chr12:83170529-83170530	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs563559610	chr12:83170595-83170596	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs530706884	chr12:83170637-83170638	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
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
Lung cancer	18438408	CNVD
Breast cancer	17899364	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	22032731	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Renal cell carcinoma	18194544	CNVD

Chromatin state (count:475 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:83150600-83174400	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr12:83151600-83173200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr12:83153200-83198600	Weak transcription	Fetal Intestine Small	intestine
4	chr12:83155200-83177200	Weak transcription	Fetal Kidney	kidney
5	chr12:83155400-83169800	Weak transcription	Stomach Smooth Muscle	stomach
6	chr12:83157200-83196000	Weak transcription	Fetal Muscle Leg	muscle
7	chr12:83162200-83173800	Weak transcription	Fetal Lung	lung
8	chr12:83162600-83169600	Weak transcription	Brain Substantia Nigra	brain
9	chr12:83162800-83169800	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr12:83162800-83174600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr12:83163000-83170000	Weak transcription	Brain Cingulate Gyrus	brain
12	chr12:83163000-83172800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr12:83164400-83176200	Weak transcription	Fetal Heart	heart
14	chr12:83166000-83170200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr12:83166800-83170000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr12:83167200-83169600	Weak transcription	Stomach Mucosa	stomach
17	chr12:83168400-83169400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr12:83168400-83170000	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr12:83168400-83171200	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr12:83168600-83170600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr12:83168800-83169600	Weak transcription	Rectal Smooth Muscle	rectum
22	chr12:83169000-83170200	Enhancers	Placenta Amnion	Placenta Amnion
23	chr12:83169000-83177400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr12:83169200-83176200	Weak transcription	Colon Smooth Muscle	Colon
25	chr12:83169200-83182600	Weak transcription	Fetal Stomach	stomach
26	chr12:83169400-83189400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr12:83169600-83169800	Enhancers	Brain Substantia Nigra	brain
28	chr12:83169600-83170200	Enhancers	Rectal Smooth Muscle	rectum
29	chr12:83169800-83170000	Enhancers	Stomach Smooth Muscle	stomach
30	chr12:83169800-83170200	Enhancers	Brain Inferior Temporal Lobe	brain
31	chr12:83169800-83170200	Weak transcription	Brain Substantia Nigra	brain
32	chr12:83170000-83170200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr12:83170000-83170200	Enhancers	Brain Cingulate Gyrus	brain
34	chr12:83170000-83178000	Weak transcription	Primary monocytes fromperipheralblood	blood
35	chr12:83170200-83170600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr12:83170200-83170600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr12:83170200-83170600	Weak transcription	Brain Cingulate Gyrus	brain
38	chr12:83170200-83170800	Enhancers	Brain Substantia Nigra	brain
39	chr12:83170200-83175600	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr12:83170200-83175600	Weak transcription	Rectal Smooth Muscle	rectum
41	chr12:83170600-83170800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr12:83170600-83170800	Enhancers	Brain Cingulate Gyrus	brain
43	chr12:83170600-83172000	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr12:83170600-83172400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr12:83170800-83173800	Weak transcription	Brain Substantia Nigra	brain
46	chr12:83170800-83174400	Weak transcription	Brain Cingulate Gyrus	brain
47	chr12:83170800-83175200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr12:83171200-83173800	Weak transcription	Monocytes-CD14+_RO01746	blood
49	chr12:83171600-83171800	Enhancers	Brain Anterior Caudate	brain
50	chr12:83171800-83173600	Weak transcription	Brain Anterior Caudate	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links