Variant report

Variant	esv3405876
Chromosome Location	chr7:66125744-66126777
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:66117992..66119894-chr7:66123194..66126181,3	MCF-7	breast:
2	chr7:66125049..66126880-chr7:66129177..66130739,2	K562	blood:
3	chr7:66119503..66123638-chr7:66124009..66126767,3	K562	blood:
4	chr7:66118018..66119679-chr7:66125379..66127890,2	K562	blood:

Variant related genes	Relation type
ENSG00000226824	chromatin interactions

Extended variants
information (count: 39 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:39 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535806232	chr7:66125766-66125767	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs555459799	chr7:66125845-66125846	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs113306947	chr7:66125888-66125889	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs117709677	chr7:66125932-66125933	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance
5	rs117094436	chr7:66125933-66125934	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance
6	rs112244819	chr7:66125972-66125973	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs189586324	chr7:66125978-66125979	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs563975228	chr7:66125995-66125996	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs558485987	chr7:66126023-66126024	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs574237740	chr7:66126068-66126069	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs368503904	chr7:66126092-66126093	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs578250633	chr7:66126135-66126136	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs76642107	chr7:66126136-66126137	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs12535766	chr7:66126138-66126139	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs148553781	chr7:66126150-66126151	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs528135933	chr7:66126154-66126155	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs551453084	chr7:66126162-66126163	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs564973732	chr7:66126201-66126202	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs35586442	chr7:66126286-66126287	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs68098110	chr7:66126304-66126305	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs530694349	chr7:66126309-66126310	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs142993557	chr7:66126373-66126374	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs567486816	chr7:66126375-66126376	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs536133189	chr7:66126411-66126412	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs151120716	chr7:66126422-66126423	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs529298964	chr7:66126447-66126448	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs565727503	chr7:66126458-66126459	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs534701034	chr7:66126461-66126462	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs3936	chr7:66126489-66126490	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs577731567	chr7:66126509-66126510	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs78991748	chr7:66126558-66126559	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs537587682	chr7:66126585-66126586	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs374801793	chr7:66126593-66126594	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs574223115	chr7:66126601-66126602	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs542945083	chr7:66126665-66126666	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs560101382	chr7:66126684-66126685	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs73377516	chr7:66126696-66126697	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs75411792	chr7:66126710-66126711	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs141082481	chr7:66126774-66126775	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
Bipolar disorder	19114987	CNVD

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66120400-66127400	Weak transcription	Lung	lung
2	chr7:66120400-66127600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr7:66120600-66127600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr7:66120600-66127600	Weak transcription	Fetal Brain Male	brain
5	chr7:66120600-66127600	Weak transcription	Fetal Kidney	kidney
6	chr7:66120600-66127600	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr7:66120600-66127600	Weak transcription	Thymus	Thymus
8	chr7:66120600-66129600	Weak transcription	Brain Substantia Nigra	brain
9	chr7:66120600-66129800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr7:66120600-66132400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr7:66120600-66146000	Weak transcription	Primary T cells from cord blood	blood
12	chr7:66120600-66146200	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr7:66120800-66127400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr7:66120800-66127400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr7:66120800-66127600	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr7:66120800-66127600	Weak transcription	Brain Germinal Matrix	brain
17	chr7:66120800-66132000	Weak transcription	Fetal Brain Female	brain
18	chr7:66120800-66143600	Weak transcription	GM12878-XiMat	blood
19	chr7:66120800-66146000	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr7:66121000-66127200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr7:66121000-66127400	Weak transcription	A549	lung
22	chr7:66121000-66127600	Weak transcription	Duodenum Mucosa	Duodenum
23	chr7:66121000-66139400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr7:66121000-66143600	Weak transcription	Primary B cells from peripheral blood	blood
25	chr7:66121000-66144000	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr7:66121000-66146200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr7:66121000-66146200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr7:66121200-66127400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr7:66121200-66127400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr7:66121200-66127400	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr7:66121200-66130600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr7:66121200-66131400	Weak transcription	Brain Angular Gyrus	brain
33	chr7:66121200-66137800	Weak transcription	HMEC	breast
34	chr7:66121400-66127400	Weak transcription	Fetal Lung	lung
35	chr7:66121400-66127400	Weak transcription	Spleen	Spleen
36	chr7:66121400-66127600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr7:66121400-66127600	Weak transcription	Left Ventricle	heart
38	chr7:66121400-66127600	Weak transcription	Pancreas	Pancrea
39	chr7:66121400-66130200	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr7:66121400-66139800	Weak transcription	Rectal Smooth Muscle	rectum
41	chr7:66121400-66146000	Weak transcription	Adipose Nuclei	Adipose
42	chr7:66121400-66146000	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr7:66121600-66127400	Weak transcription	Esophagus	oesophagus
44	chr7:66121600-66127400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr7:66121600-66127400	Weak transcription	Fetal Intestine Large	intestine
46	chr7:66121600-66127400	Weak transcription	Fetal Stomach	stomach
47	chr7:66121600-66127400	Weak transcription	HepG2	liver
48	chr7:66121600-66127400	Weak transcription	K562	blood
49	chr7:66121600-66127600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr7:66121600-66127600	Weak transcription	Placenta	Placenta

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