Variant report

Variant	esv2582410
Chromosome Location	chr7:18549311-18550684
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:48 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541614677	chr7:18549319-18549320	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs560022145	chr7:18549321-18549322	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs181636360	chr7:18549330-18549331	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs528504496	chr7:18549365-18549366	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs147767510	chr7:18549369-18549370	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs74955002	chr7:18549377-18549378	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs185965890	chr7:18549385-18549386	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs542591826	chr7:18549386-18549387	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs563830318	chr7:18549387-18549388	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs567168954	chr7:18549390-18549391	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs144216864	chr7:18549448-18549449	Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs146630944	chr7:18549466-18549467	Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs375838155	chr7:18549476-18549477	Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs17139278	chr7:18549510-18549511	Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs528201468	chr7:18549579-18549580	Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs546375995	chr7:18549582-18549583	Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs35848123	chr7:18549654-18549655	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs567957811	chr7:18549748-18549749	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs114969937	chr7:18549793-18549794	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs536310333	chr7:18549794-18549795	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs569070801	chr7:18549808-18549809	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs537421846	chr7:18549813-18549814	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs115854359	chr7:18549815-18549816	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs577399436	chr7:18549868-18549869	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs191127861	chr7:18549907-18549908	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs553600177	chr7:18549962-18549963	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs538277963	chr7:18550073-18550074	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs183984323	chr7:18550090-18550091	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs542067321	chr7:18550101-18550102	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs142400713	chr7:18550204-18550205	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs575871374	chr7:18550206-18550207	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs372310734	chr7:18550217-18550218	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs113523561	chr7:18550224-18550225	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs115115750	chr7:18550260-18550261	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs528166158	chr7:18550340-18550341	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs186108806	chr7:18550349-18550350	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs561454366	chr7:18550374-18550375	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs191004492	chr7:18550381-18550382	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs550482087	chr7:18550386-18550387	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs569156477	chr7:18550448-18550449	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs533044751	chr7:18550471-18550472	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs552551601	chr7:18550496-18550497	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs567626936	chr7:18550497-18550498	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs570814330	chr7:18550514-18550515	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs182348244	chr7:18550556-18550557	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs78859288	chr7:18550592-18550593	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs113378825	chr7:18550593-18550594	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs187044216	chr7:18550627-18550628	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
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
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Prostate cancer	19242612	CNVD
Autism	18414403	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21858162	CNVD
Pleomorphic liposarcoma	18784837	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
Cutaneous T-cell lymphoma	21881587	CNVD
Heart disease	21282601	CNVD
Rubinstein-Taybi syndrome	22470819	CNVD
Alzheimer''s disease	22166940	CNVD
Abnormal phenotypes	18644119	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Bladder cancer	21909424	CNVD
Cancer	21183584	CNVD
Autism	20808228	CNVD
Sezary syndrome	18413736	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:18541800-18551600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr7:18542000-18553200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr7:18543000-18549600	Enhancers	Primary B cells from peripheral blood	blood
4	chr7:18543000-18554400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr7:18545600-18554200	Weak transcription	Fetal Brain Female	brain
6	chr7:18546000-18551000	Weak transcription	Brain Hippocampus Middle	brain
7	chr7:18546200-18551800	Enhancers	Primary B cells from cord blood	blood
8	chr7:18547800-18549400	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr7:18547800-18549400	Enhancers	Hela-S3	cervix
10	chr7:18547800-18549600	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr7:18548000-18549400	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr7:18548000-18549600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr7:18548000-18550200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr7:18548000-18551000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr7:18548200-18549400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr7:18548200-18549400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr7:18548200-18549400	Enhancers	Fetal Muscle Leg	muscle
18	chr7:18548200-18549600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr7:18548200-18549800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
20	chr7:18548200-18549800	Flanking Active TSS	Osteobl	bone
21	chr7:18548200-18550800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr7:18548400-18549400	Flanking Active TSS	HUVEC	blood vessel
23	chr7:18548400-18549600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
24	chr7:18548400-18549600	Active TSS	Stomach Mucosa	stomach
25	chr7:18548400-18549600	Flanking Active TSS	HSMM	muscle
26	chr7:18548400-18551000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr7:18548600-18549400	Enhancers	Brain Inferior Temporal Lobe	brain
28	chr7:18548600-18549400	Enhancers	Duodenum Smooth Muscle	Duodenum
29	chr7:18548600-18549400	Active TSS	Psoas Muscle	Psoas
30	chr7:18548600-18549400	Active TSS	Right Ventricle	heart
31	chr7:18548600-18549600	Flanking Active TSS	GM12878-XiMat	blood
32	chr7:18548600-18550400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr7:18548600-18551200	Active TSS	NHEK	skin
34	chr7:18548600-18551400	Active TSS	Aorta	Aorta
35	chr7:18548600-18551400	Active TSS	HMEC	breast
36	chr7:18548600-18551400	Active TSS	NH-A	brain
37	chr7:18548800-18549400	Enhancers	Brain Anterior Caudate	brain
38	chr7:18548800-18549400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
39	chr7:18548800-18549600	Enhancers	Rectal Mucosa Donor 31	rectum
40	chr7:18548800-18549800	Flanking Active TSS	NHLF	lung
41	chr7:18548800-18550000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr7:18548800-18550000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr7:18548800-18550000	Active TSS	Right Atrium	heart
44	chr7:18548800-18550400	Active TSS	NHDF-Ad	bronchial
45	chr7:18548800-18550600	Active TSS	HSMMtube	muscle
46	chr7:18549000-18549400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
47	chr7:18549000-18549600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
48	chr7:18549000-18549600	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
49	chr7:18549000-18549600	Active TSS	Skeletal Muscle Female	skeletal muscle
50	chr7:18549000-18549800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell

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