Variant report

Variant	esv3375699
Chromosome Location	chr7:80341666-80344164
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 135 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:135 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113634114	chr7:80341671-80341672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs533054557	chr7:80341672-80341673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs11762052	chr7:80341683-80341684	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs183506627	chr7:80341704-80341705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs535667093	chr7:80341757-80341758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs555292532	chr7:80341759-80341760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs568776225	chr7:80341761-80341762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs537759407	chr7:80341767-80341768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs556890941	chr7:80341787-80341788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs6969280	chr7:80341816-80341817	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs545974392	chr7:80341820-80341821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs553469971	chr7:80341863-80341864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs573337332	chr7:80341867-80341868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs542383839	chr7:80341900-80341901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs562274624	chr7:80341918-80341919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs6467340	chr7:80341920-80341921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs544964327	chr7:80341936-80341937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs564059934	chr7:80341951-80341952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs532977894	chr7:80341984-80341985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs546356457	chr7:80341986-80341987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs187840154	chr7:80341992-80341993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs190850465	chr7:80341995-80341996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs549121266	chr7:80342019-80342020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs568715065	chr7:80342025-80342026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs186143755	chr7:80342047-80342048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs78170543	chr7:80342062-80342063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs182729441	chr7:80342066-80342067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs6467341	chr7:80342103-80342104	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs68175171	chr7:80342104-80342105	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs565753176	chr7:80342138-80342139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs553115670	chr7:80342162-80342163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs192987608	chr7:80342181-80342182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs183971040	chr7:80342182-80342183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs187468282	chr7:80342184-80342185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs35185750	chr7:80342240-80342241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs6969946	chr7:80342241-80342242	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs11391093	chr7:80342257-80342258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs112284469	chr7:80342258-80342259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs564797555	chr7:80342259-80342260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs578203331	chr7:80342262-80342263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs112605293	chr7:80342343-80342344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs36083430	chr7:80342389-80342390	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs184759383	chr7:80342395-80342396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs11982937	chr7:80342414-80342415	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs548716462	chr7:80342439-80342440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs148824101	chr7:80342464-80342465	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs556714498	chr7:80342481-80342482	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs369469473	chr7:80342484-80342485	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs551242422	chr7:80342485-80342486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs576748227	chr7:80342493-80342494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Biliary cancer	19435499	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Hepatocellular carcinoma	16750200	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
Non-syndromic sensorineural hearing loss	21987784	CNVD
Neurodevelopmental disorder	22521361	CNVD
Williams Syndrome	20824207	CNVD
Metanephric adenoma	20802469	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Williams-beuren syndrome	16826523	CNVD
Olfactory neuroblastoma	18408657	CNVD
Wilms tumour	19318497	CNVD
Multiple myeloma	16616336	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Schizophrenia	17879154	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	20858243	CNVD
Breast cancer	21611746	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Breast cancer	22522925	CNVD
Bipolar disorder	19114987	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:80341000-80342400	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr7:80341200-80348600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr7:80341400-80348600	Weak transcription	NHLF	lung
4	chr7:80341400-80348800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr7:80342400-80342600	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr7:80342600-80351000	Weak transcription	HUES6 Cell Line	embryonic stem cell

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