Variant report

Variant	esv1849605
Chromosome Location	chr7:108882191-108913019
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:108900168..108902978-chr7:108903344..108906087,2	MCF-7	breast:
2	chr7:108900168..108902978-chr7:108903344..108906087,2	MCF-7	breast:
3	chr7:108890203..108893066-chr7:108896329..108898326,2	K562	blood:
4	chr7:108890203..108893066-chr7:108896329..108898326,2	K562	blood:

Extended variants
information (count: 524 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:524 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs527915645	chr7:108886216-108886217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs79889404	chr7:108886222-108886223	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs397720844	chr7:108886229-108886230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs34598532	chr7:108886250-108886251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs77375437	chr7:108886264-108886265	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs148930293	chr7:108886272-108886273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs369256501	chr7:108886275-108886276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs2188435	chr7:108886280-108886281	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs112446082	chr7:108886284-108886285	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs56375084	chr7:108886285-108886286	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs569262050	chr7:108886290-108886291	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs148118049	chr7:108886349-108886350	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs12705552	chr7:108886393-108886394	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs565621304	chr7:108886421-108886422	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs11984082	chr7:108886472-108886473	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs75787529	chr7:108886476-108886477	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs554718221	chr7:108886504-108886505	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs574062052	chr7:108886551-108886552	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs190687559	chr7:108886589-108886590	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs556693589	chr7:108886590-108886591	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs183145354	chr7:108886591-108886592	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs576548179	chr7:108886600-108886601	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs545406441	chr7:108886629-108886630	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs548029317	chr7:108886635-108886636	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs186365353	chr7:108886638-108886639	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs374057864	chr7:108886643-108886644	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs572672434	chr7:108886657-108886658	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs541280713	chr7:108886660-108886661	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs536115439	chr7:108886668-108886669	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs191209863	chr7:108886707-108886708	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs549511786	chr7:108886762-108886763	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs554447717	chr7:108886768-108886769	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs563032967	chr7:108886790-108886791	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs371672933	chr7:108886802-108886803	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs532012641	chr7:108886803-108886804	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs55706353	chr7:108886838-108886839	Active TSS Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs182536102	chr7:108886846-108886847	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs61358745	chr7:108886849-108886850	Active TSS Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs548088548	chr7:108886870-108886871	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs2015731	chr7:108886891-108886892	Active TSS Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs113643359	chr7:108886971-108886972	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs556730280	chr7:108886985-108886986	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs58290863	chr7:108886994-108886995	Active TSS Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs187900065	chr7:108886995-108886996	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs2015789	chr7:108887007-108887008	Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs572659627	chr7:108887009-108887010	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs541664305	chr7:108887016-108887017	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs561419686	chr7:108887046-108887047	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs575016943	chr7:108887066-108887067	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs192537966	chr7:108887100-108887101	Flanking Active TSS Enhancers	n/a	n/a	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
Acute myeloid leukemia	16864856	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
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Squamous cell cancer	20885788	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	16397240	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
Autism	19401682	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	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
small cell lung cancer	20016488	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:108886200-108886400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr7:108886200-108887400	Enhancers	NHEK	skin
3	chr7:108886400-108886800	Enhancers	Fetal Muscle Leg	muscle
4	chr7:108886400-108887000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr7:108886400-108887200	Enhancers	Hela-S3	cervix
6	chr7:108886400-108887200	Enhancers	NH-A	brain
7	chr7:108886400-108887400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr7:108886400-108887400	Enhancers	HMEC	breast
9	chr7:108886400-108887800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr7:108886400-108888200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr7:108886600-108887000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr7:108886600-108887000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr7:108886800-108887400	Enhancers	Gastric	stomach
14	chr7:108887000-108887200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr7:108887000-108887400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr7:108887000-108887400	Enhancers	Fetal Heart	heart
17	chr7:108887200-108887400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr7:108891600-108892800	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr7:108891800-108892200	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr7:108892600-108892800	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr7:108892800-108898800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr7:108898600-108902000	Enhancers	Dnd41	blood
23	chr7:108898800-108899400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr7:108898800-108899600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr7:108898800-108899600	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr7:108898800-108899600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr7:108898800-108899800	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr7:108898800-108899800	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr7:108898800-108899800	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr7:108898800-108899800	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr7:108899000-108899400	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr7:108899000-108899600	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr7:108899000-108899600	Enhancers	Brain Germinal Matrix	brain
34	chr7:108899200-108899800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
35	chr7:108899200-108899800	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr7:108901400-108902000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr7:108901400-108902000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr7:108901600-108902000	Enhancers	NHEK	skin
39	chr7:108901600-108902200	Enhancers	HMEC	breast
40	chr7:108911800-108912000	Enhancers	Pancreas	Pancrea

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