Variant report

Variant	nsv824125
Chromosome Location	chr7:63814063-63814728
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr7:63814155-63814277	K562	blood:	n/a	n/a
2	POLR2A	chr7:63814637-63814941	K562	blood:	n/a	n/a
3	POLR2A	chr7:63811244-63814133	K562	blood:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF736-4	chr7:63813369-63817011	NONHSAT121005

Variant related genes	Relation type
TRIM60P18	TF binding region

Extended variants
information (count: 27 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541120755	chr7:63814073-63814074	Weak transcription ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
2	rs557517520	chr7:63814077-63814078	Weak transcription ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
3	rs199750350	chr7:63814080-63814081	Weak transcription ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
4	rs148866286	chr7:63814081-63814082	Weak transcription ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
5	rs143624842	chr7:63814083-63814084	Weak transcription ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
6	rs61017832	chr7:63814086-63814087	Weak transcription ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
7	rs189247330	chr7:63814091-63814092	Weak transcription ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
8	rs192880948	chr7:63814092-63814093	Weak transcription ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
9	rs6964963	chr7:63814098-63814099	Weak transcription ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
10	rs79142797	chr7:63814103-63814104	Weak transcription ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
11	rs369768706	chr7:63814126-63814127	Weak transcription ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
12	rs559946999	chr7:63814151-63814152	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
13	rs542365171	chr7:63814200-63814201	Weak transcription ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
14	rs684437	chr7:63814288-63814289	Weak transcription ZNF genes & repeats	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs140078222	chr7:63814294-63814295	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
16	rs551848458	chr7:63814369-63814370	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
17	rs571585832	chr7:63814403-63814404	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
18	rs530900063	chr7:63814429-63814430	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
19	rs375996247	chr7:63814472-63814473	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
20	rs587711	chr7:63814487-63814488	Weak transcription ZNF genes & repeats	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs567912605	chr7:63814590-63814591	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
22	rs529845372	chr7:63814619-63814620	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
23	rs536848110	chr7:63814642-63814643	Weak transcription ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
24	rs150304778	chr7:63814657-63814658	Weak transcription ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
25	rs567069133	chr7:63814677-63814678	Weak transcription ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
26	rs185015450	chr7:63814680-63814681	Weak transcription ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
27	rs557815311	chr7:63814720-63814721	Weak transcription ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
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
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	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

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:63776600-63817800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr7:63790200-63816600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr7:63790200-63820200	ZNF genes & repeats	Adipose Nuclei	Adipose
4	chr7:63790200-63826600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr7:63795400-63814600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
6	chr7:63795800-63814200	ZNF genes & repeats	Primary B cells from cord blood	blood
7	chr7:63796800-63814200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr7:63797200-63814200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
9	chr7:63801200-63818800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr7:63807400-63815600	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
11	chr7:63807600-63814200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
12	chr7:63807600-63814200	ZNF genes & repeats	Duodenum Mucosa	Duodenum
13	chr7:63811800-63814800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
14	chr7:63813200-63814400	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr7:63813400-63814600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr7:63813400-63817400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr7:63813600-63815600	Weak transcription	Pancreas	Pancrea
18	chr7:63813600-63816000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr7:63813800-63815800	Weak transcription	Left Ventricle	heart
20	chr7:63813800-63817400	Weak transcription	Aorta	Aorta
21	chr7:63814000-63816000	Weak transcription	Ovary	ovary
22	chr7:63814600-63814800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell

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