Variant report

Variant	esv3347596
Chromosome Location	chr7:39939761-39969926
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:39961241..39963014-chr7:39971580..39973102,2	MCF-7	breast:
2	chr7:39957754..39959391-chr7:40170682..40173574,2	MCF-7	breast:
3	chr7:39955644..39957229-chr7:39962334..39965045,2	K562	blood:
4	chr7:39963368..39965638-chr7:39986641..39989237,2	K562	blood:
5	chr7:39947119..39949489-chr7:39987088..39990351,4	MCF-7	breast:
6	chr7:39949691..39951984-chr7:39989315..39991207,2	MCF-7	breast:
7	chr7:39955812..39957588-chr7:39989391..39990971,2	K562	blood:
8	chr7:39955644..39957229-chr7:39962334..39965045,2	K562	blood:
9	chr7:39957065..39959149-chr7:39987771..39989678,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000065883	chromatin interactions
ENSG00000259826	chromatin interactions

Extended variants
information (count: 1051 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:1051 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563850656	chr7:39939765-39939766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs374515269	chr7:39939783-39939784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs188107755	chr7:39939791-39939792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs549648214	chr7:39939813-39939814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs146636489	chr7:39939817-39939818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs551625555	chr7:39939828-39939829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs180691589	chr7:39939851-39939852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs76494285	chr7:39939855-39939856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs557190921	chr7:39939871-39939872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs183709578	chr7:39939884-39939885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs557116803	chr7:39939910-39939911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs536583753	chr7:39939921-39939922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs537143996	chr7:39939939-39939940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs553181588	chr7:39939954-39939955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs573120197	chr7:39939955-39939956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs143350566	chr7:39939957-39939958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs4723915	chr7:39939960-39939961	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs575150812	chr7:39939972-39939973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs72589780	chr7:39939996-39939997	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs112525288	chr7:39939998-39939999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs575678943	chr7:39940005-39940006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs75699023	chr7:39940029-39940030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs182267824	chr7:39940031-39940032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs559512858	chr7:39940034-39940035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs370328756	chr7:39940035-39940036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs117520306	chr7:39940054-39940055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs551803375	chr7:39940085-39940086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs114291126	chr7:39940086-39940087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs140224630	chr7:39940087-39940088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs111990930	chr7:39940108-39940109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs550681676	chr7:39940151-39940152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs567691617	chr7:39940315-39940316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs536545576	chr7:39940321-39940322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs150293749	chr7:39940337-39940338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs566629011	chr7:39940369-39940370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs137952098	chr7:39940370-39940371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs558586982	chr7:39940450-39940451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs186883421	chr7:39940453-39940454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs143728762	chr7:39940516-39940517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs554143082	chr7:39940538-39940539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs574137570	chr7:39940598-39940599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs575143958	chr7:39940641-39940642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs147207166	chr7:39940644-39940645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs138944542	chr7:39940651-39940652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs149289818	chr7:39940696-39940697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs546010869	chr7:39940746-39940747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs144561222	chr7:39940753-39940754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs114958634	chr7:39940762-39940763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs530886582	chr7:39940791-39940792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs551099697	chr7:39940808-39940809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	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
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Hepatocellular carcinoma	16750200	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	17237825	CNVD
Breast cancer	17899364	CNVD
Breast cancer	20409316	CNVD
Acute monocytic leukemia	16498392	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	21645411	CNVD
Colorectal cancer	19455253	CNVD
Glioblastoma multiforme	22286061	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Gastric cancer	24379144	CNVD
small cell lung cancer	20016488	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Bladder cancer	21909424	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Schizophrenia	21346763	CNVD

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:39938600-39943600	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr7:39943400-39944400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr7:39943600-39943800	Enhancers	Skeletal Muscle Male	skeletal muscle
4	chr7:39943600-39944000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr7:39943600-39944400	Enhancers	NHDF-Ad	bronchial
6	chr7:39943800-39949400	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr7:39944400-39949800	Weak transcription	NHDF-Ad	bronchial
8	chr7:39946000-39949400	Weak transcription	Right Atrium	heart
9	chr7:39949200-39949400	Enhancers	HepG2	liver
10	chr7:39949200-39950000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr7:39949400-39949600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr7:39949400-39949800	Flanking Active TSS	HepG2	liver
13	chr7:39949400-39950000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr7:39949400-39950000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr7:39949400-39950200	Enhancers	Primary neutrophils fromperipheralblood	blood
16	chr7:39949400-39950400	Enhancers	Right Atrium	heart
17	chr7:39949400-39950600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr7:39949400-39950600	Enhancers	Fetal Muscle Trunk	muscle
19	chr7:39949400-39950600	Enhancers	Fetal Muscle Leg	muscle
20	chr7:39949400-39950600	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr7:39949400-39950800	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr7:39949400-39951000	Enhancers	Left Ventricle	heart
23	chr7:39949400-39951200	Enhancers	Fetal Heart	heart
24	chr7:39949600-39950000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr7:39949600-39950000	Enhancers	Liver	Liver
26	chr7:39949600-39950000	Enhancers	Osteobl	bone
27	chr7:39949600-39950200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr7:39949600-39950200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr7:39949600-39950400	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr7:39949800-39950400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr7:39949800-39950400	Enhancers	NHDF-Ad	bronchial
32	chr7:39949800-39950600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr7:39949800-39950600	Enhancers	HSMM	muscle
34	chr7:39950000-39959000	Weak transcription	Liver	Liver
35	chr7:39950000-39965000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr7:39950200-39950400	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr7:39954200-39954800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
38	chr7:39959000-39959800	Enhancers	Liver	Liver
39	chr7:39959200-39959400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr7:39959200-39959400	Enhancers	Fetal Muscle Trunk	muscle
41	chr7:39959200-39959800	Enhancers	HepG2	liver
42	chr7:39959400-39960600	Weak transcription	Fetal Muscle Trunk	muscle
43	chr7:39959800-39961000	Weak transcription	HepG2	liver
44	chr7:39959800-39961600	Weak transcription	Liver	Liver
45	chr7:39960600-39961400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr7:39960600-39961400	Enhancers	Skeletal Muscle Male	skeletal muscle
47	chr7:39960600-39962000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr7:39960600-39962000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr7:39960600-39962000	Enhancers	Fetal Muscle Trunk	muscle
50	chr7:39960600-39962000	Enhancers	Fetal Muscle Leg	muscle

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