Variant report

Variant	esv33058
Chromosome Location	chr12:66895409-66911162
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:66893673..66895856-chr12:66898880..66900612,2	MCF-7	breast:
2	chr12:66908461..66910349-chr12:66910423..66912141,2	MCF-7	breast:
3	chr11:77849195..77850765-chr12:66898775..66901373,2	MCF-7	breast:
4	chr12:66905511..66907339-chr12:66908597..66911172,2	K562	blood:
5	chr12:66908495..66911478-chr9:73033466..73036076,2	MCF-7	breast:
6	chr12:66893673..66895856-chr12:66898880..66900612,2	MCF-7	breast:
7	chr12:66905511..66907339-chr12:66908597..66911172,2	K562	blood:

Variant related genes	Relation type
ENSG00000155974	chromatin interactions
ENSG00000159063	chromatin interactions

Extended variants
information (count: 584 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:584 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532008521	chr12:66895432-66895433	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs57460565	chr12:66895450-66895451	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs575393458	chr12:66895496-66895497	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs536082121	chr12:66895595-66895596	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs374668698	chr12:66895648-66895649	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs554830561	chr12:66895671-66895672	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs573187831	chr12:66895680-66895681	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs540602619	chr12:66895692-66895693	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs565285364	chr12:66895702-66895703	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs17102568	chr12:66895716-66895717	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs544686943	chr12:66895723-66895724	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs75418727	chr12:66895798-66895799	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs530294068	chr12:66895818-66895819	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs189946242	chr12:66895825-66895826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs74892383	chr12:66895918-66895919	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs142373551	chr12:66895982-66895983	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs527943464	chr12:66895983-66895984	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs75059461	chr12:66895992-66895993	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs12298702	chr12:66896003-66896004	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs36103028	chr12:66896011-66896012	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs78415127	chr12:66896012-66896013	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs550629379	chr12:66896019-66896020	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs548089991	chr12:66896020-66896021	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs56196817	chr12:66896047-66896048	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs35924220	chr12:66896055-66896056	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs574063610	chr12:66896072-66896073	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs117684608	chr12:66896132-66896133	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs74399383	chr12:66896181-66896182	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs66723144	chr12:66896187-66896188	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs142292697	chr12:66896204-66896205	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs572427636	chr12:66896205-66896206	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs372479015	chr12:66896208-66896209	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs558934882	chr12:66896237-66896238	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs577308096	chr12:66896258-66896259	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs544311795	chr12:66896362-66896363	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs78903964	chr12:66896379-66896380	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs182333752	chr12:66896391-66896392	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs78001454	chr12:66896436-66896437	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs574853606	chr12:66896451-66896452	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs539390498	chr12:66896456-66896457	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs542382247	chr12:66896466-66896467	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs560322037	chr12:66896515-66896516	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs527919057	chr12:66896584-66896585	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs185063680	chr12:66896586-66896587	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs192047243	chr12:66896600-66896601	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs532117984	chr12:66896640-66896641	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs550320441	chr12:66896673-66896674	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs76123063	chr12:66896762-66896763	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs183985954	chr12:66896772-66896773	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs548326805	chr12:66896773-66896774	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
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
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
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
Prostate cancer	18632612	CNVD
Ovarian neoplasms	16753589	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	16620391	CNVD
Neuroticism	17667963	CNVD
Breast cancer	21364760	CNVD
Urothelial cell carcinoma	18451213	CNVD
Breast cancer	22048815	CNVD
Congenital anomalies of the kidney and urinary tract	21113617	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Myelofibrosis	22110671	CNVD
Myxofibrosarcoma	16751306	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Lung cancer	17925434	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Disease	21505450	CNVD
craniofacial dysmorphism	21918468	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Osteosarcoma	21215367	CNVD

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:66890600-66909200	Weak transcription	Pancreas	Pancrea
2	chr12:66891200-66896600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr12:66892000-66896400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:66892400-66895600	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr12:66893000-66895600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr12:66893000-66896200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr12:66894400-66897200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr12:66894600-66899800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr12:66895000-66896400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr12:66895000-66897400	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr12:66895000-66901600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr12:66895600-66895800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
13	chr12:66895600-66897600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr12:66896200-66896800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr12:66896400-66898000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr12:66896600-66897400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr12:66896600-66898400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr12:66896600-66898800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr12:66897400-66897600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr12:66897400-66898000	Enhancers	Brain Substantia Nigra	brain
21	chr12:66897400-66898200	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr12:66897600-66897800	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr12:66897600-66912600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr12:66898200-66899800	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr12:66898800-66901000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr12:66899800-66900400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
27	chr12:66899800-66900400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
28	chr12:66900400-66908800	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr12:66900600-66909800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr12:66901400-66902400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr12:66901600-66902000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr12:66901600-66902200	Enhancers	HMEC	breast
33	chr12:66901600-66902600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr12:66902200-66910200	Weak transcription	HMEC	breast
35	chr12:66902600-66909600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr12:66906800-66907000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr12:66907000-66909200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr12:66907000-66910000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr12:66907200-66910000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr12:66907400-66910000	Weak transcription	Aorta	Aorta
41	chr12:66907800-66908200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr12:66908200-66908800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr12:66908200-66910200	Enhancers	Hela-S3	cervix
44	chr12:66908600-66909400	Enhancers	HSMMtube	muscle
45	chr12:66908800-66909000	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr12:66908800-66910000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr12:66909000-66909400	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr12:66909200-66909400	Enhancers	H9 Cell Line	embryonic stem cell
49	chr12:66909200-66911400	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr12:66909200-66911400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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