Variant report

Variant	esv3400325
Chromosome Location	chr7:102800193-102801796
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:102799119..102800765-chr7:102801413..102803528,2	MCF-7	breast:
2	chr7:102799119..102800765-chr7:102801413..102803528,2	MCF-7	breast:
3	chr7:102787455..102790640-chr7:102797727..102800221,5	K562	blood:

Variant related genes	Relation type
ENSG00000161048	chromatin interactions

Extended variants
information (count: 147 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:147 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553167479	chr7:102800272-102800273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs574610649	chr7:102800320-102800321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs139708595	chr7:102800325-102800326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs1968203	chr7:102800331-102800332	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs559163701	chr7:102800377-102800378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs545432481	chr7:102800400-102800401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs1968202	chr7:102800426-102800427	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs180980682	chr7:102800444-102800445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs544672049	chr7:102800472-102800473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs115770117	chr7:102800488-102800489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs13237057	chr7:102800500-102800501	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs548869000	chr7:102800504-102800505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs13224269	chr7:102800543-102800544	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs537433648	chr7:102800551-102800552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs375208079	chr7:102800553-102800554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs79346596	chr7:102800556-102800557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs559040518	chr7:102800558-102800559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs75549526	chr7:102800562-102800563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs369418582	chr7:102800583-102800584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs75683610	chr7:102800593-102800594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs535134873	chr7:102800598-102800599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs200876486	chr7:102800602-102800603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs77709163	chr7:102800603-102800604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs77597293	chr7:102800604-102800605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs71540941	chr7:102800613-102800614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs200067330	chr7:102800615-102800616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs369448425	chr7:102800618-102800619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs372706167	chr7:102800621-102800622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs77958048	chr7:102800622-102800623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs151026122	chr7:102800623-102800624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs78067865	chr7:102800624-102800625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs201987875	chr7:102800633-102800634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs77202923	chr7:102800641-102800642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs79753825	chr7:102800643-102800644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs200631125	chr7:102800653-102800654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs375786550	chr7:102800656-102800657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs75760540	chr7:102800661-102800662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs80175993	chr7:102800663-102800664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs78929106	chr7:102800673-102800674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs78291293	chr7:102800676-102800677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs62484775	chr7:102800684-102800685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs62484776	chr7:102800693-102800694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs556825641	chr7:102800698-102800699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs376610624	chr7:102800713-102800714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs369049713	chr7:102800723-102800724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs372995990	chr7:102800724-102800725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs376518933	chr7:102800743-102800744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs370610193	chr7:102800744-102800745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs367609293	chr7:102800773-102800774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs375838198	chr7:102800783-102800784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Basal cell lymphoma	17170743	CNVD
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
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	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
small cell lung cancer	20016488	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
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Malignant melanoma	17260012	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Bladder cancer	21909424	CNVD
Biliary cancer	19435499	CNVD
Myelofibrosis	22110671	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	16608533	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Liver carcinoma	19366792	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Adenocarcinoma	19607727	CNVD
Multiple myeloma	16461302	CNVD
Breast cancer	21858162	CNVD
Emphysema	19352772	CNVD
Effusion lymphoma	18079361	CNVD
Medulloblastoma	17653508	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Autism	19401682	CNVD
Neuroticism	17667963	CNVD
Prostate cancer	18632612	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Cancer	19907438	CNVD
Breast cancer	21364760	CNVD
abnormal development	18461090	CNVD
Pancreatic cancer	17952125	CNVD
Glioblastoma multiforme	21510904	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:102790200-102803200	Weak transcription	Gastric	stomach
2	chr7:102794800-102803200	Weak transcription	Fetal Intestine Large	intestine
3	chr7:102800000-102802000	Weak transcription	K562	blood
4	chr7:102801200-102802400	Enhancers	Lung	lung
5	chr7:102801600-102801800	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr7:102801600-102803400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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