Variant report

Variant	nsv559209
Chromosome Location	chr12:67155610-67176792
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:67155440..67157393-chr12:67158810..67161653,2	MCF-7	breast:
2	chr12:67169597..67171791-chr2:190019336..190021927,2	MCF-7	breast:
3	chr12:67173926..67176766-chr12:67210508..67212832,2	MCF-7	breast:
4	chr12:67174375..67176870-chr12:67178960..67180503,2	K562	blood:
5	chr12:67155440..67157393-chr12:67158810..67161653,2	MCF-7	breast:

Extended variants
information (count: 760 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:760 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10878503	chr12:67155610-67155611	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs552818902	chr12:67155639-67155640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs571085608	chr12:67155649-67155650	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs117075682	chr12:67155692-67155693	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs190600288	chr12:67155711-67155712	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs145016871	chr12:67155758-67155759	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs536307342	chr12:67155858-67155859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs11176417	chr12:67155902-67155903	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs532711243	chr12:67155918-67155919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs566625993	chr12:67155923-67155924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs113498908	chr12:67155929-67155930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs558796064	chr12:67155984-67155985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs541462304	chr12:67155985-67155986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs10506497	chr12:67156025-67156026	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs146873734	chr12:67156026-67156027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs556099407	chr12:67156130-67156131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs76868735	chr12:67156134-67156135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs10878504	chr12:67156208-67156209	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs572662552	chr12:67156270-67156271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs116187449	chr12:67156279-67156280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs140741543	chr12:67156280-67156281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs564791839	chr12:67156322-67156323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs143762851	chr12:67156333-67156334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs148141788	chr12:67156349-67156350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs10506498	chr12:67156377-67156378	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs181769158	chr12:67156378-67156379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs376184626	chr12:67156460-67156461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs1921008	chr12:67156469-67156470	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs548252834	chr12:67156503-67156504	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs10506499	chr12:67156574-67156575	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs533990581	chr12:67156591-67156592	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs373648255	chr12:67156601-67156602	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs35727511	chr12:67156605-67156606	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs11608734	chr12:67156648-67156649	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs368758828	chr12:67156703-67156704	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs570324144	chr12:67156728-67156729	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs12582532	chr12:67156757-67156758	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs141662234	chr12:67156767-67156768	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs186595784	chr12:67156786-67156787	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs150119307	chr12:67156811-67156812	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs554233656	chr12:67156837-67156838	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs138749045	chr12:67156843-67156844	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs557545902	chr12:67156901-67156902	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs577590214	chr12:67156941-67156942	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs191508578	chr12:67157039-67157040	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs570081972	chr12:67157068-67157069	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs539170840	chr12:67157091-67157092	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs17102883	chr12:67157119-67157120	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs576733499	chr12:67157120-67157121	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs74673790	chr12:67157128-67157129	Enhancers Flanking Active TSS Weak 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
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
Glioblastoma multiforme	21569311	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:140 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:67149800-67168600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:67155600-67155800	Enhancers	Brain Germinal Matrix	brain
3	chr12:67155800-67156400	Weak transcription	Brain Germinal Matrix	brain
4	chr12:67156400-67158800	Enhancers	Brain Germinal Matrix	brain
5	chr12:67156600-67157000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr12:67156600-67157200	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr12:67157000-67157200	Enhancers	Fetal Kidney	kidney
8	chr12:67157000-67157400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr12:67157000-67157400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr12:67157000-67157600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr12:67157200-67161200	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr12:67157200-67161400	Weak transcription	Fetal Kidney	kidney
13	chr12:67157400-67158800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr12:67157600-67159400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr12:67157800-67158000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr12:67158000-67159400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr12:67158400-67162600	Enhancers	Primary T cells from cord blood	blood
18	chr12:67158600-67162200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
19	chr12:67158800-67160200	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr12:67158800-67160800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr12:67158800-67162400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
22	chr12:67159000-67159200	Enhancers	Thymus	Thymus
23	chr12:67159000-67160000	Enhancers	Primary T cells fromperipheralblood	blood
24	chr12:67159000-67160400	Enhancers	Primary T helper naive cells from peripheral blood	blood
25	chr12:67159200-67160000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr12:67159200-67160000	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr12:67159200-67160200	Enhancers	Primary T killer memory cells from peripheral blood	blood
28	chr12:67159200-67161000	Weak transcription	Thymus	Thymus
29	chr12:67159400-67160400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr12:67159400-67160400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr12:67159600-67160200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
32	chr12:67160000-67160200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr12:67160000-67160400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
34	chr12:67160000-67161000	Weak transcription	Primary T helper cells fromperipheralblood	blood
35	chr12:67160200-67160600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr12:67160200-67160600	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr12:67160200-67160600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr12:67160400-67160600	Enhancers	Primary T cells fromperipheralblood	blood
39	chr12:67160400-67160800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr12:67160400-67161400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr12:67160400-67161600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr12:67160400-67161800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr12:67160600-67161800	Enhancers	Primary T helper cells PMA-I stimulated	--
44	chr12:67160600-67161800	Enhancers	Primary T killer memory cells from peripheral blood	blood
45	chr12:67160600-67168800	Weak transcription	Primary T cells fromperipheralblood	blood
46	chr12:67160800-67161600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr12:67160800-67162000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr12:67161000-67161600	Enhancers	Thymus	Thymus
49	chr12:67161000-67161800	Enhancers	Primary T helper cells fromperipheralblood	blood
50	chr12:67161200-67161600	Enhancers	HUES48 Cell Line	embryonic stem cell

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