Variant report

Variant	esv3448306
Chromosome Location	chr7:123974566-123976614
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:123973378..123975261-chr7:123975911..123978785,2	K562	blood:

Variant related genes	Relation type
ENSG00000242593	chromatin interactions

Extended variants
information (count: 35 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:35 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559014391	chr7:123974569-123974570	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs529607020	chr7:123974577-123974578	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs191848305	chr7:123974582-123974583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs13238571	chr7:123974600-123974601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs543920324	chr7:123975931-123975932	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs572883353	chr7:123975932-123975933	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs375649520	chr7:123975938-123975939	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs17146991	chr7:123975998-123975999	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs557620779	chr7:123976022-123976023	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs574906119	chr7:123976023-123976024	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs181482230	chr7:123976047-123976048	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs567199832	chr7:123976048-123976049	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs112204938	chr7:123976103-123976104	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs374766416	chr7:123976131-123976132	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs545937000	chr7:123976136-123976137	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs577562965	chr7:123976140-123976141	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs552517793	chr7:123976145-123976146	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs62474379	chr7:123976179-123976180	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs541769167	chr7:123976205-123976206	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs545042103	chr7:123976260-123976261	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs60830304	chr7:123976283-123976284	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs1978183	chr7:123976318-123976319	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs544018222	chr7:123976369-123976370	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs546126246	chr7:123976404-123976405	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs564000928	chr7:123976456-123976457	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs377504038	chr7:123976475-123976476	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs189977348	chr7:123976482-123976483	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs182478590	chr7:123976528-123976529	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs185592327	chr7:123976530-123976531	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs559649382	chr7:123976550-123976551	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs1978184	chr7:123976557-123976558	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs551891541	chr7:123976561-123976562	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs571633909	chr7:123976588-123976589	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs530644510	chr7:123976590-123976591	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs550331794	chr7:123976614-123976615	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelodysplastic syndrome	21251322	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	23792589	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19401682	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21509527	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Epilepsy	21635232	CNVD
Squamous cell cancer	20885788	CNVD
Myelofibrosis	22110671	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:123974200-123974600	Enhancers	Fetal Brain Female	brain

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