Variant report

Variant	esv3366594
Chromosome Location	chr7:66110517-66110889
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:66110828..66113551-chr7:66145936..66148699,2	K562	blood:
2	chr7:66108414..66111030-chr7:66116734..66119540,3	K562	blood:
3	chr7:66108448..66114561-chr7:66117849..66121082,8	MCF-7	breast:
4	chr7:66109569..66111669-chr7:66397227..66398800,2	K562	blood:
5	chr7:66102739..66106974-chr7:66106983..66113666,6	K562	blood:

Variant related genes	Relation type
ENSG00000226824	chromatin interactions
ENSG00000154710	chromatin interactions

Extended variants
information (count: 10 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576021326	chr7:66110578-66110579	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs541500441	chr7:66110616-66110617	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs78152094	chr7:66110680-66110681	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs2533285	chr7:66110728-66110729	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs187241809	chr7:66110769-66110770	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs377090855	chr7:66110777-66110778	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs145392870	chr7:66110837-66110838	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs375228143	chr7:66110838-66110839	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs113325003	chr7:66110854-66110855	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs191751487	chr7:66110873-66110874	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Cancer	20164920	CNVD
Pancreatic cancer	17952125	CNVD
Prostate cancer	18632612	CNVD
Schizophrenia	21346763	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	22522925	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	21911935	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Neurodevelopmental disorder	22521361	CNVD

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66095000-66115200	Weak transcription	HMEC	breast
2	chr7:66095200-66118400	Weak transcription	Fetal Heart	heart
3	chr7:66095200-66118400	Weak transcription	HUVEC	blood vessel
4	chr7:66096000-66113800	Strong transcription	Fetal Stomach	stomach
5	chr7:66097000-66113400	Strong transcription	Fetal Brain Female	brain
6	chr7:66097800-66118200	Weak transcription	Primary hematopoietic stem cells	blood
7	chr7:66098000-66111000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr7:66098000-66111400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr7:66098000-66112800	Strong transcription	Fetal Muscle Trunk	muscle
10	chr7:66098000-66113200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr7:66098000-66113400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
12	chr7:66098200-66111200	Strong transcription	HUES6 Cell Line	embryonic stem cell
13	chr7:66098200-66112400	Strong transcription	Fetal Muscle Leg	muscle
14	chr7:66098400-66112200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr7:66098400-66113200	Strong transcription	Spleen	Spleen
16	chr7:66098800-66111200	Strong transcription	Primary T cells from cord blood	blood
17	chr7:66099400-66111200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr7:66099800-66113400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr7:66100000-66111200	Strong transcription	Primary T helper cells fromperipheralblood	blood
20	chr7:66101200-66111200	Strong transcription	Stomach Smooth Muscle	stomach
21	chr7:66101400-66113400	Strong transcription	Primary T cells fromperipheralblood	blood
22	chr7:66101800-66113400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr7:66102200-66110800	Strong transcription	Primary neutrophils fromperipheralblood	blood
24	chr7:66102200-66112400	Strong transcription	Lung	lung
25	chr7:66102200-66113600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr7:66102200-66113800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr7:66102400-66112400	Strong transcription	Placenta	Placenta
28	chr7:66102400-66113400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr7:66102400-66113400	Strong transcription	Brain Germinal Matrix	brain
30	chr7:66102600-66112400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr7:66102600-66112400	Strong transcription	Cortex derived primary cultured neurospheres	brain
32	chr7:66102800-66111400	Strong transcription	NHDF-Ad	bronchial
33	chr7:66102800-66113200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr7:66102800-66113600	Strong transcription	Thymus	Thymus
35	chr7:66103000-66110600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr7:66103000-66112600	Strong transcription	Osteobl	bone
37	chr7:66103200-66111200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr7:66103200-66112400	Strong transcription	Aorta	Aorta
39	chr7:66104000-66117600	Weak transcription	Hela-S3	cervix
40	chr7:66104200-66115000	Weak transcription	NHEK	skin
41	chr7:66104600-66118400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr7:66104800-66118200	Weak transcription	Pancreas	Pancrea
43	chr7:66104800-66118400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr7:66105000-66118600	Weak transcription	Esophagus	oesophagus
45	chr7:66105000-66119000	Weak transcription	Gastric	stomach
46	chr7:66105200-66118800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr7:66105600-66118200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr7:66105800-66113400	Strong transcription	HSMM	muscle
49	chr7:66105800-66118400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr7:66105800-66118400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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