Variant report

Variant	esv1840573
Chromosome Location	chr7:62035570-62438289
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:62284727..62285228-chr9:30620902..30621883,2	MCF-7	breast:
2	chr17:41398894..41400557-chr7:62191292..62192792,2	K562	blood:
3	chr7:61552820..61553340-chr7:62284727..62285248,3	MCF-7	breast:
4	chr7:62093615..62095373-chr7:62122563..62125212,2	K562	blood:
5	chr17:41380367..41382313-chr7:62191292..62192792,2	MCF-7	breast:
6	chr17:41380312..41382165-chr7:62191292..62192792,2	K562	blood:
7	chr7:62093615..62095373-chr7:62122563..62125212,2	K562	blood:
8	chr17:41399589..41402142-chr7:62189772..62191292,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000236383	chromatin interactions

Extended variants
information (count: 23017 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:23017 , 50 per page) page: 1 2 3 4 5 6 7 ... 461

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2123572	chr7:62035570-62035571	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs551831005	chr7:62035589-62035590	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs569953966	chr7:62035590-62035591	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs78407102	chr7:62035606-62035607	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs369685406	chr7:62035611-62035612	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs74460451	chr7:62035617-62035618	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs536995990	chr7:62035645-62035646	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs114642135	chr7:62035651-62035652	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs568453852	chr7:62035653-62035654	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs191685793	chr7:62035655-62035656	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs373616002	chr7:62035659-62035660	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs552673568	chr7:62035660-62035661	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs537017730	chr7:62035696-62035697	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs376603198	chr7:62035703-62035704	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs538232646	chr7:62035704-62035705	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs184239510	chr7:62035705-62035706	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs116528070	chr7:62035713-62035714	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs188408967	chr7:62035721-62035722	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs200072847	chr7:62035735-62035736	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs142420236	chr7:62035754-62035755	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs192242659	chr7:62035755-62035756	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs184658275	chr7:62035771-62035772	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs146451865	chr7:62035774-62035775	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs533503817	chr7:62035777-62035778	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs201791381	chr7:62035778-62035779	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs551794027	chr7:62035792-62035793	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs34369734	chr7:62035802-62035803	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs563678601	chr7:62035819-62035820	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs370641405	chr7:62035830-62035831	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs190359577	chr7:62035837-62035838	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs570590837	chr7:62035838-62035839	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs539681237	chr7:62035847-62035848	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs147876407	chr7:62035868-62035869	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs112827129	chr7:62035891-62035892	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs534497852	chr7:62035911-62035912	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs546425006	chr7:62035915-62035916	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs140422745	chr7:62035923-62035924	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs538394045	chr7:62035934-62035935	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs75961951	chr7:62035951-62035952	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs74868842	chr7:62035953-62035954	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs556497595	chr7:62035980-62035981	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs75095838	chr7:62035989-62035990	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs80222158	chr7:62035992-62035993	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs192546610	chr7:62035993-62035994	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs77665878	chr7:62036027-62036028	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs75494207	chr7:62036028-62036029	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs537721044	chr7:62036035-62036036	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs112663697	chr7:62036043-62036044	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs555761782	chr7:62036044-62036045	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs553141732	chr7:62036050-62036051	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	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
Glioblastoma	21080181	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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Astrocytoma	22246337	CNVD
Renal cell carcinoma	18592004	CNVD
Bipolar disorder	19214233	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	21364760	CNVD
early-passage human iPS cells	21368824	CNVD
Acute monocytic leukemia	16498392	CNVD
Prostate cancer	16461572	CNVD
Salivary gland tumor	18059337	CNVD
Schizophrenia	23813976	CNVD
Multiple myeloma	17550852	CNVD
Acute myeloid leukemia	21251322	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Schizophrenia	20967226	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:298 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:62031200-62047200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
2	chr7:62031600-62047000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr7:62034600-62036800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
4	chr7:62036400-62047800	ZNF genes & repeats	Liver	Liver
5	chr7:62038000-62041600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
6	chr7:62040000-62040200	Bivalent Enhancer	HSMM	muscle
7	chr7:62040000-62040200	ZNF genes & repeats	HSMMtube	muscle
8	chr7:62040000-62040200	ZNF genes & repeats	HUVEC	blood vessel
9	chr7:62040000-62040200	Active TSS	K562	blood
10	chr7:62040000-62040200	ZNF genes & repeats	NH-A	brain
11	chr7:62040000-62040200	Enhancers	NHLF	lung
12	chr7:62040000-62040200	Enhancers	Osteobl	bone
13	chr7:62040000-62040400	Active TSS	Aorta	Aorta
14	chr7:62040000-62040400	ZNF genes & repeats	HMEC	breast
15	chr7:62040000-62043000	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
16	chr7:62045800-62047800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
17	chr7:62046000-62047000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
18	chr7:62048200-62049200	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr7:62049400-62050200	ZNF genes & repeats	Adipose Nuclei	Adipose
20	chr7:62049400-62053200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
21	chr7:62055600-62057600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr7:62056200-62057000	ZNF genes & repeats	Adipose Nuclei	Adipose
23	chr7:62061200-62062400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
24	chr7:62061600-62062800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr7:62069000-62073600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
26	chr7:62069600-62076000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
27	chr7:62069600-62076400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr7:62071600-62074400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
29	chr7:62075000-62075200	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr7:62075000-62075400	ZNF genes & repeats	NH-A	brain
31	chr7:62075000-62076400	ZNF genes & repeats	Adipose Nuclei	Adipose
32	chr7:62075200-62075400	Flanking Bivalent TSS/Enh	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr7:62075400-62076800	Weak transcription	NH-A	brain
34	chr7:62078400-62078800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr7:62080800-62084600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr7:62081000-62081400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr7:62081000-62083600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
38	chr7:62081400-62084000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
39	chr7:62083400-62083800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
40	chr7:62083400-62083800	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
41	chr7:62083800-62084600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
42	chr7:62086000-62088400	ZNF genes & repeats	Adipose Nuclei	Adipose
43	chr7:62087200-62088000	ZNF genes & repeats	Brain Substantia Nigra	brain
44	chr7:62089000-62089400	Active TSS	Aorta	Aorta
45	chr7:62090800-62091600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
46	chr7:62095800-62097000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr7:62096400-62096800	Active TSS	Fetal Heart	heart
48	chr7:62096600-62097400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
49	chr7:62096800-62097800	Weak transcription	Fetal Heart	heart
50	chr7:62097800-62098400	Active TSS	Fetal Heart	heart

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