Variant report

Variant	esv1811622
Chromosome Location	chr7:62005734-62422373
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	chr17:41399589..41402142-chr7:62189772..62191292,2	K562	blood:
2	chr17:41398894..41400557-chr7:62191292..62192792,2	K562	blood:
3	chr1:121484723..121485367-chr7:62026258..62026778,2	MCF-7	breast:
4	chr7:62093615..62095373-chr7:62122563..62125212,2	K562	blood:
5	chr17:41380312..41382165-chr7:62191292..62192792,2	K562	blood:
6	chr7:62284727..62285228-chr9:30620902..30621883,2	MCF-7	breast:
7	chr7:62093615..62095373-chr7:62122563..62125212,2	K562	blood:
8	chr7:61552820..61553340-chr7:62284727..62285248,3	MCF-7	breast:
9	chr17:41380367..41382313-chr7:62191292..62192792,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000236383	chromatin interactions

Extended variants
information (count: 26068 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:26068 , 50 per page) page: 1 2 3 4 5 6 7 ... 522

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12673407	chr7:62005734-62005735	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs547071592	chr7:62005742-62005743	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs565463499	chr7:62005749-62005750	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs188691524	chr7:62005754-62005755	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs557342544	chr7:62005759-62005760	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs577421860	chr7:62005774-62005775	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs538180999	chr7:62005777-62005778	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs112756193	chr7:62005791-62005792	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs556686804	chr7:62005795-62005796	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs574919017	chr7:62005801-62005802	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs112257285	chr7:62005805-62005806	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs542470903	chr7:62005806-62005807	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs560567275	chr7:62005818-62005819	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs2382601	chr7:62005835-62005836	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs143772148	chr7:62005837-62005838	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs546178164	chr7:62005844-62005845	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs564326651	chr7:62005847-62005848	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs531605176	chr7:62005851-62005852	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs555395282	chr7:62005854-62005855	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs549819665	chr7:62005858-62005859	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs116273580	chr7:62005868-62005869	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs139715756	chr7:62005886-62005887	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs547234886	chr7:62005901-62005902	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs149135958	chr7:62005904-62005905	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs151209450	chr7:62005910-62005911	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs144455128	chr7:62005914-62005915	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs565398773	chr7:62005915-62005916	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs377125989	chr7:62005919-62005920	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs144444428	chr7:62005920-62005921	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs539152388	chr7:62005927-62005928	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs551331588	chr7:62005934-62005935	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs139780562	chr7:62005935-62005936	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs142157599	chr7:62005936-62005937	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs146391082	chr7:62005938-62005939	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs373874552	chr7:62005947-62005948	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs4317463	chr7:62005948-62005949	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs112005642	chr7:62005953-62005954	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs369491419	chr7:62005956-62005957	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs112412197	chr7:62005957-62005958	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs372805378	chr7:62005963-62005964	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs376615695	chr7:62005969-62005970	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs575258363	chr7:62005974-62005975	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs536048253	chr7:62005975-62005976	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs371437090	chr7:62005993-62005994	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs202196270	chr7:62006000-62006001	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs186673545	chr7:62006008-62006009	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs201375810	chr7:62006015-62006016	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs138484873	chr7:62006024-62006025	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs113820020	chr7:62006028-62006029	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs191435226	chr7:62006031-62006032	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:487 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:61974800-62010000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
2	chr7:61974800-62010000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
3	chr7:61998000-62006400	Weak transcription	NH-A	brain
4	chr7:62002400-62010000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
5	chr7:62003200-62006400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr7:62004000-62005800	ZNF genes & repeats	HUVEC	blood vessel
7	chr7:62004000-62009000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
8	chr7:62004000-62010000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr7:62006400-62006800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr7:62006400-62006800	Active TSS	Primary T helper cells PMA-I stimulated	--
11	chr7:62006400-62006800	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr7:62006400-62006800	ZNF genes & repeats	Left Ventricle	heart
13	chr7:62006400-62006800	ZNF genes & repeats	NH-A	brain
14	chr7:62006400-62008000	ZNF genes & repeats	Primary T cells from cord blood	blood
15	chr7:62006600-62006800	ZNF genes & repeats	Fetal Kidney	kidney
16	chr7:62006600-62010000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
17	chr7:62006600-62015200	Weak transcription	K562	blood
18	chr7:62006800-62009600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr7:62006800-62015000	Weak transcription	NH-A	brain
20	chr7:62007600-62008200	ZNF genes & repeats	Fetal Brain Male	brain
21	chr7:62008400-62017000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr7:62008600-62010000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
23	chr7:62009200-62010000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
24	chr7:62009400-62010000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
25	chr7:62009600-62010000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr7:62009600-62010000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
27	chr7:62009600-62010000	ZNF genes & repeats	Adipose Nuclei	Adipose
28	chr7:62009600-62010000	ZNF genes & repeats	Brain Substantia Nigra	brain
29	chr7:62009600-62010000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
30	chr7:62009600-62010000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
31	chr7:62009600-62010000	ZNF genes & repeats	Left Ventricle	heart
32	chr7:62009600-62010000	ZNF genes & repeats	GM12878-XiMat	blood
33	chr7:62009600-62010000	ZNF genes & repeats	HUVEC	blood vessel
34	chr7:62009800-62010000	ZNF genes & repeats	Colonic Mucosa	Colon
35	chr7:62010000-62014400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr7:62010000-62014400	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr7:62010000-62014400	Weak transcription	HUVEC	blood vessel
38	chr7:62010000-62015000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr7:62014400-62015400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
40	chr7:62014400-62015600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
41	chr7:62014400-62029800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr7:62014600-62015200	Active TSS	Aorta	Aorta
43	chr7:62014600-62025200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
44	chr7:62014600-62027600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
45	chr7:62014800-62015400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr7:62014800-62015600	ZNF genes & repeats	HUVEC	blood vessel
47	chr7:62014800-62017600	ZNF genes & repeats	HepG2	liver
48	chr7:62014800-62026800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
49	chr7:62014800-62026800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
50	chr7:62015000-62015400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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