Variant report

Variant	esv1804647
Chromosome Location	chr7:62025972-62438289
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:62093615..62095373-chr7:62122563..62125212,2	K562	blood:
2	chr17:41398894..41400557-chr7:62191292..62192792,2	K562	blood:
3	chr17:41380367..41382313-chr7:62191292..62192792,2	MCF-7	breast:
4	chr7:62284727..62285228-chr9:30620902..30621883,2	MCF-7	breast:
5	chr7:61552820..61553340-chr7:62284727..62285248,3	MCF-7	breast:
6	chr17:41399589..41402142-chr7:62189772..62191292,2	K562	blood:
7	chr1:121484723..121485367-chr7:62026258..62026778,2	MCF-7	breast:
8	chr7:62093615..62095373-chr7:62122563..62125212,2	K562	blood:
9	chr17:41380312..41382165-chr7:62191292..62192792,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000236383	chromatin interactions

Extended variants
information (count: 24275 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:24275 , 50 per page) page: 1 2 3 4 5 6 7 ... 486

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10807715	chr7:62025972-62025973	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs144468555	chr7:62025975-62025976	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs199907177	chr7:62025977-62025978	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs73352348	chr7:62025992-62025993	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs560138488	chr7:62025994-62025995	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs567620979	chr7:62026042-62026043	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs376224431	chr7:62026060-62026061	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs368498658	chr7:62026063-62026064	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs535029221	chr7:62026064-62026065	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs370654431	chr7:62026067-62026068	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs202148958	chr7:62026083-62026084	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs368779468	chr7:62026088-62026089	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs553273637	chr7:62026090-62026091	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs369673252	chr7:62026092-62026093	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs372187981	chr7:62026102-62026103	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs374803288	chr7:62026110-62026111	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs78341036	chr7:62026114-62026115	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs78307036	chr7:62026127-62026128	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs556384350	chr7:62026133-62026134	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs367615622	chr7:62026146-62026147	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs577981135	chr7:62026150-62026151	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs538966831	chr7:62026157-62026158	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs11768347	chr7:62026161-62026162	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs186861361	chr7:62026165-62026166	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs191658134	chr7:62026168-62026169	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs560665322	chr7:62026188-62026189	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs545392540	chr7:62026193-62026194	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs539821105	chr7:62026197-62026198	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs564573868	chr7:62026222-62026223	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs565406294	chr7:62026229-62026230	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs533448524	chr7:62026245-62026246	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs79029678	chr7:62026249-62026250	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs79892341	chr7:62026252-62026253	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs552096856	chr7:62026259-62026260	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs563684129	chr7:62026267-62026268	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs531143643	chr7:62026279-62026280	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs572563463	chr7:62026280-62026281	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs199694415	chr7:62026283-62026284	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs200354672	chr7:62026288-62026289	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs148404568	chr7:62026289-62026290	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs567780186	chr7:62026299-62026300	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs201414316	chr7:62026392-62026393	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs112336303	chr7:62026396-62026397	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs199776162	chr7:62026399-62026400	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs113131469	chr7:62026407-62026408	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs200897441	chr7:62026415-62026416	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs370718647	chr7:62026443-62026444	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs546999675	chr7:62026444-62026445	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs556183510	chr7:62026447-62026448	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs372997011	chr7:62026453-62026454	ZNF genes & repeats Weak transcription	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:316 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:62014400-62029800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr7:62014600-62027600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
3	chr7:62014800-62026800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
4	chr7:62014800-62026800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
5	chr7:62022000-62032000	Weak transcription	NH-A	brain
6	chr7:62026600-62026800	ZNF genes & repeats	HUVEC	blood vessel
7	chr7:62031200-62047200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
8	chr7:62031400-62032000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:62031600-62032200	ZNF genes & repeats	HUVEC	blood vessel
10	chr7:62031600-62032400	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr7:62031600-62047000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr7:62031800-62032200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
13	chr7:62031800-62032400	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
14	chr7:62031800-62032600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
15	chr7:62031800-62032600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
16	chr7:62032000-62032200	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
17	chr7:62032000-62032200	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr7:62032000-62032200	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
19	chr7:62032000-62032200	Enhancers	Pancreatic Islets	Pancreatic Islet
20	chr7:62032000-62032200	ZNF genes & repeats	NH-A	brain
21	chr7:62034600-62036800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
22	chr7:62036400-62047800	ZNF genes & repeats	Liver	Liver
23	chr7:62038000-62041600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
24	chr7:62040000-62040200	Bivalent Enhancer	HSMM	muscle
25	chr7:62040000-62040200	ZNF genes & repeats	HSMMtube	muscle
26	chr7:62040000-62040200	ZNF genes & repeats	HUVEC	blood vessel
27	chr7:62040000-62040200	Active TSS	K562	blood
28	chr7:62040000-62040200	ZNF genes & repeats	NH-A	brain
29	chr7:62040000-62040200	Enhancers	NHLF	lung
30	chr7:62040000-62040200	Enhancers	Osteobl	bone
31	chr7:62040000-62040400	Active TSS	Aorta	Aorta
32	chr7:62040000-62040400	ZNF genes & repeats	HMEC	breast
33	chr7:62040000-62043000	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
34	chr7:62045800-62047800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
35	chr7:62046000-62047000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
36	chr7:62048200-62049200	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr7:62049400-62050200	ZNF genes & repeats	Adipose Nuclei	Adipose
38	chr7:62049400-62053200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
39	chr7:62055600-62057600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr7:62056200-62057000	ZNF genes & repeats	Adipose Nuclei	Adipose
41	chr7:62061200-62062400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
42	chr7:62061600-62062800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr7:62069000-62073600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
44	chr7:62069600-62076000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
45	chr7:62069600-62076400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr7:62071600-62074400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
47	chr7:62075000-62075200	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr7:62075000-62075400	ZNF genes & repeats	NH-A	brain
49	chr7:62075000-62076400	ZNF genes & repeats	Adipose Nuclei	Adipose
50	chr7:62075200-62075400	Flanking Bivalent TSS/Enh	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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