Variant report

Variant	esv3490750
Chromosome Location	chr12:56031555-56035542
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:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:56034180..56037174-chr12:56318793..56320905,2	K562	blood:
2	chr12:56031467..56034083-chr12:56034247..56036022,2	K562	blood:
3	chr12:56030702..56032537-chr12:56035448..56036952,2	K562	blood:
4	chr12:56031467..56034083-chr12:56034247..56036022,2	K562	blood:
5	chr12:56019572..56022533-chr12:56030768..56032739,2	K562	blood:
6	chr12:56030702..56032537-chr12:56035448..56036952,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ITGA7-1	chr12:56032696-56033100	ENSG00000258921.1

No data

Variant related genes	Relation type
ENSG00000170473	chromatin interactions

Extended variants
information (count: 160 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:160 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs374603359	chr12:56031556-56031557	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs368136407	chr12:56031560-56031561	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs76049580	chr12:56031566-56031567	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs267603572	chr12:56031576-56031577	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs375663637	chr12:56031582-56031583	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs11171631	chr12:56031611-56031612	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs575283712	chr12:56031625-56031626	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs376517791	chr12:56031626-56031627	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs376369727	chr12:56031643-56031644	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs138844754	chr12:56031676-56031677	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs565312254	chr12:56031684-56031685	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs2555035	chr12:56031704-56031705	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs573446976	chr12:56031705-56031706	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs184213016	chr12:56031732-56031733	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs562128796	chr12:56031767-56031768	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs187125465	chr12:56031799-56031800	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs547623506	chr12:56031806-56031807	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs72482258	chr12:56031807-56031808	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs118082633	chr12:56031821-56031822	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs7309433	chr12:56031837-56031838	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs115204039	chr12:56031854-56031855	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs10876839	chr12:56031863-56031864	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs570772947	chr12:56031872-56031873	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs375385688	chr12:56031919-56031920	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs574968565	chr12:56031928-56031929	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs111642702	chr12:56031978-56031979	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs2555036	chr12:56031992-56031993	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs538976891	chr12:56032057-56032058	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs568128224	chr12:56032179-56032180	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs3847676	chr12:56032181-56032182	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs577627742	chr12:56032190-56032191	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs34192509	chr12:56032193-56032194	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs544990457	chr12:56032196-56032197	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs568878197	chr12:56032209-56032210	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs539477487	chr12:56032229-56032230	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs71446513	chr12:56032257-56032258	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs115360033	chr12:56032269-56032270	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs191604067	chr12:56032305-56032306	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs2555037	chr12:56032364-56032365	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs113783701	chr12:56032373-56032374	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs377212255	chr12:56032379-56032380	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs533594313	chr12:56032387-56032388	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs75308417	chr12:56032398-56032399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs573851061	chr12:56032402-56032403	Bivalent/Poised TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs373892336	chr12:56032404-56032405	Bivalent/Poised TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs544309684	chr12:56032427-56032428	Bivalent/Poised TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs115797379	chr12:56032444-56032445	Bivalent/Poised TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs2694014	chr12:56032446-56032447	Bivalent/Poised TSS Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs571619477	chr12:56032489-56032490	Bivalent/Poised TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs545028684	chr12:56032500-56032501	Bivalent/Poised TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

Disease	PMID	Source
Seminomas	18059402	CNVD
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
Thoracic aortic aneurysm	21092924	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
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Follicular lymphoma	20505157	CNVD
Hepatocellular carcinoma	16750200	CNVD
Melanoma	18172304	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Bladder cancer	21909424	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	17661082	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	20531469	CNVD
Multiple myeloma	16616336	CNVD
Rhabdomyosarcoma	16790082	CNVD
Renal cell carcinoma	18765545	CNVD
Urothelial cell carcinoma	18451213	CNVD
Glioblastoma multiforme	21138945	CNVD
Glioblastoma multiforme	21569311	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56023200-56036800	Weak transcription	Spleen	Spleen
2	chr12:56025800-56035200	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr12:56030600-56032600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
4	chr12:56030800-56035800	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr12:56031000-56031800	Bivalent Enhancer	Dnd41	blood
6	chr12:56031000-56033800	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr12:56031000-56034400	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr12:56031000-56035200	Weak transcription	Left Ventricle	heart
9	chr12:56031200-56032400	Weak transcription	Right Atrium	heart
10	chr12:56031400-56032200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
11	chr12:56032200-56036200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr12:56032400-56032600	Bivalent/Poised TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr12:56032400-56032800	Enhancers	Right Atrium	heart
14	chr12:56032600-56036000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr12:56032800-56040000	Weak transcription	Right Atrium	heart
16	chr12:56033600-56033800	Enhancers	Primary B cells from cord blood	blood
17	chr12:56033800-56041400	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr12:56034000-56034400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr12:56034000-56034800	Weak transcription	Primary B cells from cord blood	blood
20	chr12:56034000-56035200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr12:56034400-56034600	Enhancers	Primary hematopoietic stem cells	blood
22	chr12:56034400-56035000	Enhancers	Monocytes-CD14+_RO01746	blood
23	chr12:56034800-56035600	Weak transcription	Primary hematopoietic stem cells	blood
24	chr12:56034800-56035800	Enhancers	Primary B cells from cord blood	blood
25	chr12:56034800-56037400	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr12:56035000-56037400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
27	chr12:56035000-56037600	Enhancers	Primary B cells from peripheral blood	blood
28	chr12:56035200-56038600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
29	chr12:56035400-56035600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr12:56035400-56035800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
31	chr12:56035400-56036200	Enhancers	GM12878-XiMat	blood
32	chr12:56035400-56036800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr12:56035400-56036800	Enhancers	Fetal Muscle Leg	muscle
34	chr12:56035400-56037400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
35	chr12:56035400-56040200	Weak transcription	Gastric	stomach

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