Variant report

Variant	esv3497186
Chromosome Location	chr12:65036689-65037905
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:65033725..65035733-chr12:65037658..65039391,2	MCF-7	breast:
2	chr12:65002607..65004645-chr12:65035889..65038104,2	K562	blood:
3	chr12:65001510..65003964-chr12:65034333..65037188,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000256670	chromatin interactions
ENSG00000153179	chromatin interactions

Extended variants
information (count: 38 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:38 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs374200387	chr12:65036722-65036723	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs368114231	chr12:65036726-65036727	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs1716490	chr12:65036731-65036732	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs77993948	chr12:65036741-65036742	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs574322593	chr12:65036746-65036747	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs192841507	chr12:65036764-65036765	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs556740996	chr12:65036869-65036870	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs548724129	chr12:65036879-65036880	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs184855096	chr12:65036922-65036923	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs545537642	chr12:65036924-65036925	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs565125852	chr12:65036938-65036939	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs527913002	chr12:65037087-65037088	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs201473359	chr12:65037097-65037098	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs186718051	chr12:65037170-65037171	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs374824074	chr12:65037205-65037206	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs561643812	chr12:65037217-65037218	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs539533479	chr12:65037227-65037228	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs367695013	chr12:65037229-65037230	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs374803789	chr12:65037285-65037286	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs550154507	chr12:65037323-65037324	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs55999011	chr12:65037339-65037340	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs199785546	chr12:65037340-65037341	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs552739796	chr12:65037363-65037364	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs147117033	chr12:65037412-65037413	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs76046506	chr12:65037425-65037426	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs151115167	chr12:65037438-65037439	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs557181729	chr12:65037480-65037481	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs1797699	chr12:65037483-65037484	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs536595179	chr12:65037488-65037489	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs55655091	chr12:65037492-65037493	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs140734338	chr12:65037616-65037617	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs571904340	chr12:65037632-65037633	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs184890138	chr12:65037645-65037646	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs577811611	chr12:65037682-65037683	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs540783066	chr12:65037700-65037701	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs552675718	chr12:65037708-65037709	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs386508316	chr12:65037806-65037807	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs111371334	chr12:65037858-65037859	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
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
Intracranial arachnoid cysts	20187927	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:65019800-65047400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr12:65021400-65043400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr12:65021800-65037000	Weak transcription	Adipose Nuclei	Adipose
4	chr12:65021800-65038000	Weak transcription	Ovary	ovary
5	chr12:65022400-65039600	Weak transcription	Osteobl	bone
6	chr12:65025000-65059600	Weak transcription	Thymus	Thymus
7	chr12:65025200-65044000	Weak transcription	Fetal Muscle Trunk	muscle
8	chr12:65026400-65043200	Weak transcription	Fetal Stomach	stomach
9	chr12:65027400-65041800	Weak transcription	Spleen	Spleen
10	chr12:65027800-65047600	Weak transcription	Psoas Muscle	Psoas
11	chr12:65028200-65047400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr12:65028400-65037000	Weak transcription	HUVEC	blood vessel
13	chr12:65028400-65038600	Weak transcription	Rectal Smooth Muscle	rectum
14	chr12:65028400-65047400	Weak transcription	NHDF-Ad	bronchial
15	chr12:65028400-65047400	Weak transcription	NHLF	lung
16	chr12:65028600-65056400	Weak transcription	NHEK	skin
17	chr12:65029000-65041800	Weak transcription	Left Ventricle	heart
18	chr12:65029200-65039800	Enhancers	Primary T cells fromperipheralblood	blood
19	chr12:65029200-65041000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chr12:65029200-65041600	Weak transcription	Fetal Muscle Leg	muscle
21	chr12:65029400-65036800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr12:65029400-65038000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr12:65029600-65036800	Weak transcription	GM12878-XiMat	blood
24	chr12:65029600-65037600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr12:65029600-65038200	Weak transcription	Right Atrium	heart
26	chr12:65029600-65042600	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr12:65029600-65044000	Weak transcription	Fetal Lung	lung
28	chr12:65031000-65047600	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr12:65031200-65040000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr12:65031200-65043400	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr12:65031200-65043600	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr12:65031200-65043800	Weak transcription	Fetal Intestine Small	intestine
33	chr12:65031400-65042600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr12:65031400-65043400	Weak transcription	Small Intestine	intestine
35	chr12:65031600-65038200	Weak transcription	Gastric	stomach
36	chr12:65032200-65037200	Enhancers	Primary T helper cells PMA-I stimulated	--
37	chr12:65032200-65040000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
38	chr12:65032200-65040600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
39	chr12:65032600-65041800	Weak transcription	Fetal Heart	heart
40	chr12:65032800-65038000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr12:65033000-65037200	Weak transcription	Stomach Mucosa	stomach
42	chr12:65033000-65041800	Weak transcription	Stomach Smooth Muscle	stomach
43	chr12:65033000-65052600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr12:65033400-65043200	Weak transcription	HepG2	liver
45	chr12:65033400-65043400	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr12:65033600-65038200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr12:65033600-65059400	Weak transcription	Primary hematopoietic stem cells	blood
48	chr12:65033800-65037600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr12:65033800-65037800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr12:65033800-65038600	Weak transcription	K562	blood

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