Variant report

Variant	esv3477318
Chromosome Location	chr7:66397489-66398023
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:66393271..66394873-chr7:66396881..66398631,2	MCF-7	breast:
2	chr7:66392066..66395575-chr7:66397284..66400489,4	K562	blood:
3	chr7:66109569..66111669-chr7:66397227..66398800,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34556141	chr7:66397497-66397498	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs375755080	chr7:66397504-66397505	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs556574664	chr7:66397572-66397573	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs576470304	chr7:66397629-66397630	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs561024231	chr7:66397650-66397651	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs556018516	chr7:66397651-66397652	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs572758268	chr7:66397663-66397664	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs541782650	chr7:66397667-66397668	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs563919418	chr7:66397703-66397704	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs55889925	chr7:66397736-66397737	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs543057765	chr7:66397784-66397785	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs573656656	chr7:66397794-66397795	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs528974374	chr7:66397808-66397809	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs536849594	chr7:66397828-66397829	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs556836763	chr7:66397852-66397853	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs113668169	chr7:66397908-66397909	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs576794145	chr7:66397916-66397917	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs201213770	chr7:66397934-66397935	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs67319329	chr7:66397963-66397964	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs143978831	chr7:66397990-66397991	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs528360984	chr7:66397992-66397993	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs369686944	chr7:66398002-66398003	Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
23	rs147334188	chr7:66398007-66398008	Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Medulloblastoma	21979893	CNVD
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
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
Follicular lymphoma	20505157	CNVD
Biliary cancer	19435499	CNVD
Williams-beuren syndrome	22470819	CNVD
Acute lymphoblastic leukemia	20067559	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
T-cell prolymphocytic leukemia	17713554	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	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
Malignant fibrous histiocytomas	21085701	CNVD
Astrocytoma	22246337	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Acute monocytic leukemia	16498392	CNVD
Prostate cancer	16461572	CNVD
Salivary gland tumor	18059337	CNVD
Multiple myeloma	17550852	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164920	CNVD
Prostate cancer	18632612	CNVD
Schizophrenia	21346763	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	21911935	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	22522925	CNVD
Melanoma	20877625	CNVD

Chromatin state (count:148 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66387600-66407200	Weak transcription	NH-A	brain
2	chr7:66387600-66409800	Weak transcription	Fetal Kidney	kidney
3	chr7:66387600-66428000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr7:66388200-66406800	Weak transcription	NHLF	lung
5	chr7:66388400-66401200	Weak transcription	Fetal Lung	lung
6	chr7:66388400-66406800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr7:66388400-66406800	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr7:66388600-66398000	Weak transcription	Placenta	Placenta
9	chr7:66388600-66403600	Weak transcription	HUVEC	blood vessel
10	chr7:66388600-66403800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr7:66388600-66406800	Weak transcription	NHDF-Ad	bronchial
12	chr7:66389000-66406800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr7:66389200-66398200	Weak transcription	Colon Smooth Muscle	Colon
14	chr7:66389200-66398400	Weak transcription	Brain Angular Gyrus	brain
15	chr7:66389400-66405400	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr7:66390200-66398400	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr7:66390600-66398200	Weak transcription	Fetal Brain Female	brain
18	chr7:66390600-66403800	Weak transcription	HSMM	muscle
19	chr7:66391200-66398200	Weak transcription	HSMMtube	muscle
20	chr7:66391200-66409800	Weak transcription	Brain Germinal Matrix	brain
21	chr7:66392600-66403400	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr7:66393000-66399800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr7:66393000-66402400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr7:66393000-66403600	Weak transcription	HepG2	liver
25	chr7:66393000-66406600	Weak transcription	Fetal Muscle Trunk	muscle
26	chr7:66393200-66398000	Weak transcription	Gastric	stomach
27	chr7:66393400-66411800	Weak transcription	Stomach Mucosa	stomach
28	chr7:66393600-66398000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr7:66393600-66398000	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr7:66393800-66422200	Weak transcription	Fetal Heart	heart
31	chr7:66394000-66399400	Weak transcription	GM12878-XiMat	blood
32	chr7:66394000-66403600	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr7:66394200-66398200	Weak transcription	Psoas Muscle	Psoas
34	chr7:66394200-66398400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr7:66394200-66402000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
36	chr7:66394200-66403800	Weak transcription	Hela-S3	cervix
37	chr7:66394200-66405400	Weak transcription	Primary hematopoietic stem cells	blood
38	chr7:66394200-66408000	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr7:66394400-66398200	Weak transcription	Fetal Thymus	thymus
40	chr7:66394400-66405400	Weak transcription	HMEC	breast
41	chr7:66394400-66405600	Weak transcription	Colonic Mucosa	Colon
42	chr7:66395000-66404000	Weak transcription	NHEK	skin
43	chr7:66395200-66397600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
44	chr7:66395400-66404000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr7:66395400-66406800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr7:66395400-66406800	Weak transcription	Stomach Smooth Muscle	stomach
47	chr7:66395600-66397600	Weak transcription	Pancreas	Pancrea
48	chr7:66395600-66398000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr7:66395600-66398000	Weak transcription	Rectal Smooth Muscle	rectum
50	chr7:66395600-66402400	Weak transcription	Dnd41	blood

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