Variant report

Variant	esv275213
Chromosome Location	chr7:124300969-124311742
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:124302842..124303610-chr7:124405672..124406206,2	MCF-7	breast:
2	chr7:124282474..124284467-chr7:124298276..124301225,2	MCF-7	breast:
3	chr7:124302728..124305170-chr7:124305971..124308456,2	K562	blood:
4	chr7:124302728..124305170-chr7:124305971..124308456,2	K562	blood:

Variant related genes	Relation type
ENSG00000170775	chromatin interactions

Extended variants
information (count: 395 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:395 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185714683	chr7:124301069-124301070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs150464746	chr7:124301077-124301078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs527772483	chr7:124301099-124301100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs547656526	chr7:124301125-124301126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs570662222	chr7:124301129-124301130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs11975826	chr7:124301144-124301145	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs138486592	chr7:124301157-124301158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs566126946	chr7:124301184-124301185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs548206985	chr7:124301224-124301225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs535139915	chr7:124301273-124301274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs190572703	chr7:124301323-124301324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs182442462	chr7:124301398-124301399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs71576213	chr7:124301447-124301448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs186416309	chr7:124301479-124301480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs557391565	chr7:124301548-124301549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs578077096	chr7:124301578-124301579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs191311261	chr7:124301616-124301617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs76363152	chr7:124301630-124301631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs556844239	chr7:124301697-124301698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs182787225	chr7:124301729-124301730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs542246877	chr7:124301759-124301760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs77908392	chr7:124301778-124301779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs527636130	chr7:124301779-124301780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs531277503	chr7:124301786-124301787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs541545103	chr7:124301794-124301795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs564545657	chr7:124301813-124301814	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs79558362	chr7:124301814-124301815	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs537482280	chr7:124301824-124301825	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs200793521	chr7:124301842-124301843	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs374651898	chr7:124301849-124301850	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs60034049	chr7:124301850-124301851	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs73221450	chr7:124301858-124301859	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs529172409	chr7:124301926-124301927	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs76106441	chr7:124301984-124301985	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs75283696	chr7:124302020-124302021	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs74998828	chr7:124302060-124302061	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs541740420	chr7:124302080-124302081	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs187764133	chr7:124302084-124302085	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs551082172	chr7:124302126-124302127	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs570986451	chr7:124302161-124302162	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs539679141	chr7:124302182-124302183	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs534931033	chr7:124302196-124302197	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs561933138	chr7:124302202-124302203	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs556471576	chr7:124302206-124302207	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs576717525	chr7:124302233-124302234	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs535774262	chr7:124302235-124302236	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs192351965	chr7:124302315-124302316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs1524768	chr7:124302331-124302332	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs183397686	chr7:124302333-124302334	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs55654546	chr7:124302340-124302341	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:87)

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
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:124299200-124302600	Weak transcription	Brain Hippocampus Middle	brain
2	chr7:124300800-124301000	Enhancers	Brain Substantia Nigra	brain
3	chr7:124301000-124303800	Weak transcription	Brain Substantia Nigra	brain
4	chr7:124301800-124302000	Enhancers	Brain Cingulate Gyrus	brain
5	chr7:124301800-124302800	Enhancers	Fetal Lung	lung
6	chr7:124302000-124307600	Weak transcription	Brain Cingulate Gyrus	brain
7	chr7:124302400-124302600	Enhancers	Brain Angular Gyrus	brain
8	chr7:124302600-124302800	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr7:124302600-124303000	Active TSS	Brain Hippocampus Middle	brain
10	chr7:124302600-124307400	Weak transcription	Brain Angular Gyrus	brain
11	chr7:124302800-124307400	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr7:124303000-124307600	Weak transcription	Brain Hippocampus Middle	brain
13	chr7:124303800-124304200	Enhancers	Brain Substantia Nigra	brain
14	chr7:124304200-124304400	Enhancers	Brain Anterior Caudate	brain
15	chr7:124304200-124307600	Weak transcription	Brain Substantia Nigra	brain
16	chr7:124305200-124307000	Weak transcription	Brain Anterior Caudate	brain
17	chr7:124306800-124307600	Enhancers	Fetal Lung	lung
18	chr7:124307000-124308200	Enhancers	Brain Anterior Caudate	brain
19	chr7:124307200-124307400	Enhancers	Liver	Liver
20	chr7:124307200-124308200	Enhancers	Placenta	Placenta
21	chr7:124307400-124307600	Enhancers	Pancreatic Islets	Pancreatic Islet
22	chr7:124307400-124307800	Flanking Active TSS	Liver	Liver
23	chr7:124307400-124309000	Enhancers	Brain Angular Gyrus	brain
24	chr7:124307600-124307800	Active TSS	Brain Hippocampus Middle	brain
25	chr7:124307600-124307800	Flanking Active TSS	Fetal Lung	lung
26	chr7:124307600-124308000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr7:124307600-124308000	Enhancers	Brain Cingulate Gyrus	brain
28	chr7:124307600-124308000	Active TSS	Brain Substantia Nigra	brain
29	chr7:124307600-124308000	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
30	chr7:124307600-124308000	Enhancers	NHLF	lung
31	chr7:124307600-124308200	Enhancers	Brain Inferior Temporal Lobe	brain
32	chr7:124307600-124308400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr7:124307800-124308000	Active TSS	Fetal Lung	lung
34	chr7:124307800-124308200	Enhancers	Aorta	Aorta
35	chr7:124307800-124308200	Enhancers	Liver	Liver
36	chr7:124307800-124308200	Flanking Active TSS	Brain Hippocampus Middle	brain
37	chr7:124307800-124309000	Enhancers	Placenta Amnion	Placenta Amnion
38	chr7:124308000-124308200	Flanking Active TSS	Brain Substantia Nigra	brain
39	chr7:124308000-124308400	Enhancers	Pancreatic Islets	Pancreatic Islet
40	chr7:124308000-124308800	Weak transcription	Brain Cingulate Gyrus	brain
41	chr7:124308000-124312200	Weak transcription	Fetal Lung	lung
42	chr7:124308200-124308400	Enhancers	Brain Hippocampus Middle	brain
43	chr7:124308200-124309000	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr7:124308200-124309200	Enhancers	Brain Substantia Nigra	brain
45	chr7:124308200-124313400	Weak transcription	Placenta	Placenta
46	chr7:124308400-124311200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr7:124308800-124309000	Enhancers	Brain Cingulate Gyrus	brain
48	chr7:124309000-124309200	Enhancers	Brain Inferior Temporal Lobe	brain
49	chr7:124310600-124312800	Enhancers	NHEK	skin
50	chr7:124311000-124312400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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