Variant report

Variant	nsv976636
Chromosome Location	chr12:66553474-66556236
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:66550852..66561080-chr12:66561565..66565303,15	MCF-7	breast:
2	chr12:66548703..66551216-chr12:66555058..66558052,2	MCF-7	breast:
3	chr12:66554922..66556425-chr12:66697932..66699503,2	K562	blood:

Variant related genes	Relation type
ENSG00000155957	chromatin interactions

Extended variants
information (count: 104 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:104 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs377070946	chr12:66553509-66553510	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs532077984	chr12:66553518-66553519	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs552092923	chr12:66553544-66553545	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs571752664	chr12:66553617-66553618	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs534363719	chr12:66553663-66553664	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs553990767	chr12:66553701-66553702	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs17825943	chr12:66553714-66553715	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs536328144	chr12:66553726-66553727	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs182534432	chr12:66553759-66553760	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs558273294	chr12:66553773-66553774	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs576020256	chr12:66553785-66553786	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs544951119	chr12:66553831-66553832	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs186397756	chr12:66553847-66553848	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs572154395	chr12:66553871-66553872	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs377331224	chr12:66553916-66553917	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs201461337	chr12:66553944-66553945	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs541184476	chr12:66553970-66553971	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs560839589	chr12:66553997-66553998	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs372921606	chr12:66554003-66554004	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs190799235	chr12:66554020-66554021	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs543528033	chr12:66554031-66554032	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs183132142	chr12:66554081-66554082	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs532140967	chr12:66554155-66554156	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs372565973	chr12:66554197-66554198	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs117793424	chr12:66554245-66554246	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs139747792	chr12:66554247-66554248	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs35258480	chr12:66554253-66554254	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs187424135	chr12:66554309-66554310	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs192815100	chr12:66554351-66554352	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs540699984	chr12:66554397-66554398	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs562329849	chr12:66554434-66554435	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs547998729	chr12:66554466-66554467	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs143112090	chr12:66554467-66554468	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs79097899	chr12:66554478-66554479	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs556238256	chr12:66554488-66554489	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs569720004	chr12:66554539-66554540	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs538605776	chr12:66554543-66554544	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs373502551	chr12:66554544-66554545	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs373589944	chr12:66554553-66554554	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs183463410	chr12:66554554-66554555	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs111570499	chr12:66554572-66554573	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs140135115	chr12:66554579-66554580	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs200712768	chr12:66554584-66554585	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs554783755	chr12:66554586-66554587	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs574675005	chr12:66554593-66554594	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs377520807	chr12:66554620-66554621	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs77823675	chr12:66554748-66554749	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs530299657	chr12:66554763-66554764	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs56271210	chr12:66554776-66554777	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs563333474	chr12:66554784-66554785	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	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
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
Osteosarcoma	21215367	CNVD

Chromatin state (count:252 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:66525400-66562400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:66525600-66561800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr12:66526600-66557200	Weak transcription	Psoas Muscle	Psoas
4	chr12:66527000-66554400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr12:66533800-66553800	Weak transcription	Esophagus	oesophagus
6	chr12:66533800-66554400	Weak transcription	Lung	lung
7	chr12:66534600-66555600	Weak transcription	Small Intestine	intestine
8	chr12:66536200-66553600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr12:66536200-66558000	Weak transcription	Fetal Brain Female	brain
10	chr12:66536400-66556200	Weak transcription	Right Ventricle	heart
11	chr12:66536400-66557600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr12:66536400-66562400	Weak transcription	HMEC	breast
13	chr12:66536800-66556200	Weak transcription	Left Ventricle	heart
14	chr12:66537400-66556200	Weak transcription	Ovary	ovary
15	chr12:66538400-66556200	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr12:66538600-66560400	Weak transcription	Fetal Brain Male	brain
17	chr12:66539200-66558400	Weak transcription	A549	lung
18	chr12:66539400-66556200	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr12:66539400-66561400	Weak transcription	Fetal Heart	heart
20	chr12:66539400-66562200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr12:66541600-66553600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr12:66542800-66563000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr12:66544200-66557600	Weak transcription	K562	blood
24	chr12:66545400-66554600	Weak transcription	Pancreas	Pancrea
25	chr12:66545400-66555000	Weak transcription	GM12878-XiMat	blood
26	chr12:66547400-66562000	Weak transcription	HUVEC	blood vessel
27	chr12:66548400-66562200	Weak transcription	Brain Anterior Caudate	brain
28	chr12:66548600-66562000	Weak transcription	Brain Cingulate Gyrus	brain
29	chr12:66549000-66553600	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr12:66549200-66561800	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr12:66549200-66561800	Weak transcription	Right Atrium	heart
32	chr12:66550000-66557600	Strong transcription	Primary T cells from cord blood	blood
33	chr12:66550200-66557400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr12:66550400-66559200	Weak transcription	Colonic Mucosa	Colon
35	chr12:66550600-66555000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr12:66551200-66560400	Weak transcription	HepG2	liver
37	chr12:66551400-66553600	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
38	chr12:66551400-66558000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr12:66552200-66556000	Strong transcription	Dnd41	blood
40	chr12:66552400-66554000	Strong transcription	Stomach Smooth Muscle	stomach
41	chr12:66552400-66554200	Strong transcription	Primary hematopoietic stem cells	blood
42	chr12:66552400-66554400	Strong transcription	Fetal Intestine Large	intestine
43	chr12:66552400-66555000	Strong transcription	Primary T cells fromperipheralblood	blood
44	chr12:66552400-66555400	ZNF genes & repeats	Fetal Intestine Small	intestine
45	chr12:66552600-66553600	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr12:66552600-66554000	Strong transcription	Brain Inferior Temporal Lobe	brain
47	chr12:66552600-66554000	Strong transcription	Brain Substantia Nigra	brain
48	chr12:66552600-66554000	Genic enhancers	Monocytes-CD14+_RO01746	blood
49	chr12:66552600-66554200	Strong transcription	Duodenum Smooth Muscle	Duodenum
50	chr12:66552600-66554400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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