Variant report

Variant	nsv888250
Chromosome Location	chr7:62935337-63131060
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	CEBPB	chr7:62947754-62947800	HepG2	liver:	n/a	chr7:62947771-62947780
2	CEBPB	chr7:62947600-62947804	IMR90	lung:	n/a	chr7:62947771-62947780 chr7:62947699-62947710
3	CTCF	chr7:63091747-63091809	GM10266	blood:	n/a	n/a
4	CTCF	chr7:63044280-63044334	GM10248	blood:	n/a	n/a
5	CTCF	chr7:63086706-63086747	GM13976	blood:	n/a	n/a
6	CTCF	chr7:63006558-63006630	Kidney_OC	kidney:	n/a	n/a
7	CTCF	chr7:63057594-63057690	GM13976	blood:	n/a	chr7:63057667-63057680
8	CTCF	chr7:63092149-63092212	GM10248	blood:	n/a	n/a
9	CTCF	chr7:62954374-62954399	Lung_OC	lung:	n/a	n/a
10	CTCF	chr7:63006746-63006780	Lung_OC	lung:	n/a	n/a
11	CTCF	chr7:63093003-63093102	GM13976	blood:	n/a	n/a
12	CTCF	chr7:63022675-63022880	MCF-7	breast:	n/a	chr7:63022772-63022790 chr7:63022775-63022788 chr7:63022775-63022784 chr7:63022774-63022795 chr7:63022777-63022787
13	CTCF	chr7:63022740-63022807	Gliobla	brain:	n/a	chr7:63022772-63022790 chr7:63022775-63022788 chr7:63022775-63022784 chr7:63022774-63022795 chr7:63022777-63022787
14	CTCF	chr7:62954340-62954371	ProgFib	skin:	n/a	n/a
15	CTCF	chr7:63036726-63036751	H1-hESC	embryonic stem cell:	n/a	n/a
16	CTCF	chr7:63107122-63107158	GM10248	blood:	n/a	n/a
17	CTCF	chr7:63032805-63032933	Lung_OC	lung:	n/a	n/a
18	CTCF	chr7:63017951-63018108	K562	blood:	n/a	chr7:63017977-63017998 chr7:63017985-63017995 chr7:63017982-63018000 chr7:63018055-63018063 chr7:63017988-63017997 chr7:63017983-63017999 chr7:63017984-63017997
19	CTCF	chr7:63071289-63071364	GM10248	blood:	n/a	n/a
20	CTCF	chr7:63022755-63022793	GM12892	blood:	n/a	chr7:63022772-63022790 chr7:63022775-63022788 chr7:63022775-63022784 chr7:63022777-63022787
21	CTCF	chr7:62989067-62989153	LNCaP	prostate:	n/a	n/a
22	CTCF	chr7:62975003-62975047	Lung_OC	lung:	n/a	n/a
23	CTCF	chr7:62940006-62940109	Lung_OC	lung:	n/a	n/a
24	CTCF	chr7:63013104-63013157	GM13976	blood:	n/a	n/a
25	CTCF	chr7:63101863-63101955	LNCaP	prostate:	n/a	n/a
26	CTCF	chr7:63018001-63018009	GM12891	blood:	n/a	n/a
27	CTCF	chr7:62936267-62936315	LNCaP	prostate:	n/a	n/a
28	CTCF	chr7:63046071-63046208	Lung_OC	lung:	n/a	n/a
29	CTCF	chr7:63022723-63022849	MCF-7	breast:	n/a	chr7:63022772-63022790 chr7:63022775-63022788 chr7:63022775-63022784 chr7:63022774-63022795 chr7:63022777-63022787
30	CTCF	chr7:63090253-63090298	Medullo	brain:	n/a	n/a
31	CTCF	chr7:63022694-63022803	H1-hESC	embryonic stem cell:	n/a	chr7:63022772-63022790 chr7:63022775-63022788 chr7:63022775-63022784 chr7:63022774-63022795 chr7:63022777-63022787
32	CTCF	chr7:63017940-63018096	H1-hESC	embryonic stem cell:	n/a	chr7:63017977-63017998 chr7:63017985-63017995 chr7:63017982-63018000 chr7:63018055-63018063 chr7:63017988-63017997 chr7:63017983-63017999 chr7:63017984-63017997
33	CTCF	chr7:63031040-63031436	GM19239	blood:	n/a	n/a
34	CTCF	chr7:63032511-63032522	GM10248	blood:	n/a	n/a
35	CTCF	chr7:62956904-62956941	GM10248	blood:	n/a	n/a
36	CTCF	chr7:63040159-63040280	Lung_OC	lung:	n/a	n/a
37	CTCF	chr7:62940666-62940706	GM13977	blood:	n/a	n/a
38	CTCF	chr7:63092287-63092323	Kidney_OC	kidney:	n/a	n/a
39	CTCF	chr7:63108175-63108259	LNCaP	prostate:	n/a	n/a
40	CTCF	chr7:63123960-63123993	LNCaP	prostate:	n/a	n/a
41	CTCF	chr7:63095777-63095858	GM20000	blood:	n/a	n/a
42	CTCF	chr7:63022722-63022868	GM19239	blood:	n/a	chr7:63022772-63022790 chr7:63022775-63022788 chr7:63022775-63022784 chr7:63022774-63022795 chr7:63022777-63022787
43	CTCF	chr7:62946053-62946086	Medullo	brain:	n/a	n/a
44	CTCF	chr7:63022758-63022778	MCF-7	breast:	n/a	n/a
45	CTCF	chr7:63010616-63010709	Kidney_OC	kidney:	n/a	n/a
46	CTCF	chr7:63043353-63043395	Kidney_OC	kidney:	n/a	n/a
47	CTCF	chr7:63111665-63111768	GM10266	blood:	n/a	n/a
48	CTCF	chr7:63008546-63008558	GM13976	blood:	n/a	n/a
49	CTCF	chr7:63018014-63018068	Spleen_OC	spleen:	n/a	chr7:63018055-63018063
50	CTCF	chr7:63075185-63075263	Lung_OC	lung:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:63028201-63028251	RPTEC	kidney:	n/a
2	chr7:63020706-63020756	IMR90	lung:	fetal
3	chr7:63037165-63037215	AG04449	skin:	fetal
4	chr7:63033482-63033532	ProgFib	skin:	n/a
5	chr7:63028201-63028251	RPTEC	kidney:	n/a
6	chr7:63020706-63020756	IMR90	lung:	fetal
7	chr7:63037165-63037215	AG04449	skin:	fetal
8	chr7:63033482-63033532	ProgFib	skin:	n/a
9	chr7:63019920-63019970	H1-hESC	embryonic stem cell:	embryo
10	chr7:63020757-63020807	SK-N-SH	brain:	n/a
11	chr7:63014468-63014518	SKMC	muscle:	n/a
12	chr7:63029487-63029537	RPTEC	kidney:	n/a
13	chr7:63028025-63028075	HAEpiC	amniotic membrane:	n/a
14	chr7:63016104-63016154	AG09309	skin:	n/a
15	chr7:63020800-63020850	HL-60	blood:	n/a
16	chr7:63024210-63024260	NB4	blood:	n/a
17	chr7:63032888-63032938	Jurkat	blood:	n/a
18	chr7:63034325-63034375	A549	lung:	n/a
19	chr7:63032734-63032784	HCPEpiC	choroid plexus:	n/a
20	chr7:63031275-63031325	A549	lung:	n/a
21	chr7:63033482-63033532	HCM	heart:	n/a
22	chr7:63016648-63016698	ECC-1	luminal epithelium:	n/a
23	chr7:63020800-63020850	ECC-1	luminal epithelium:	n/a
24	chr7:63016835-63016885	HPAEpiC	pulmonary alveolar:	n/a
25	chr7:63020800-63020850	SK-N-SH	brain:	n/a
26	chr7:63016102-63016152	SAEC	small airway:	n/a
27	chr7:63032734-63032784	AoSMC	blood vessel:	n/a
28	chr7:63034325-63034375	NB4	blood:	n/a
29	chr7:63086120-63086170	PrEC	prostate:	n/a
30	chr7:63041305-63041355	AG09319	gingival:	n/a
31	chr7:63033231-63033281	AG09309	skin:	n/a
32	chr7:63016648-63016698	HEK293	kidney:	embryo
33	chr7:63016835-63016885	AG04449	skin:	fetal
34	chr7:63020706-63020756	GM12891	blood:	n/a
35	chr7:63028277-63028327	NT2-D1	testis:	n/a
36	chr7:63028025-63028075	H1-hESC	embryonic stem cell:	embryo
37	chr7:63020706-63020756	HepG2	liver:	n/a
38	chr7:63033482-63033532	K562	blood:	n/a
39	chr7:63041232-63041282	AG09309	skin:	n/a
40	chr7:63037165-63037215	GM12878	blood:	n/a
41	chr7:63041518-63041568	GM12878	blood:	n/a
42	chr7:63088877-63088927	HL-60	blood:	n/a
43	chr7:63034325-63034375	HCF	heart:	n/a
44	chr7:63036930-63036980	MCF10A-Er-Src	breast:	n/a
45	chr7:63032879-63032929	ECC-1	luminal epithelium:	n/a
46	chr7:63019920-63019970	HIPEpiC	eye:	n/a
47	chr7:63031111-63031161	HCT-116	colon:	n/a
48	chr7:63029487-63029537	HCT-116	colon:	n/a
49	chr7:63088877-63088927	ECC-1	luminal epithelium:	n/a
50	chr7:63014468-63014518	HEK293	kidney:	embryo

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF680-35	chr7:63071823-63072082	NONHSAT120922
2	lnc-ZNF680-37	chr7:62940976-62941367	NONHSAT120919

miRNA name	Chromosome Location	mirBase accession
hsa-miR-4283	chr7:63081478-63081494	MIMAT0016914_1

Variant related genes	Relation type
ENSG00000226401	TF binding region
RN7SL855P	TF binding region
SLC29A4P2	TF binding region
SEPT7P5	TF binding region
MIR4283-1	TF binding region
ENSG00000230132	TF binding region
TNRC18P2	TF binding region
PHKG1P2	TF binding region
ENSG00000226401	CpG island
RN7SL855P	CpG island
SLC29A4P2	CpG island
SEPT7P5	CpG island
MIR4283-1	CpG island
ENSG00000230132	CpG island
TNRC18P2	CpG island
PHKG1P2	CpG island

Extended variants
information (count: 531 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:531 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551640020	chr7:62940981-62940982	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs182071511	chr7:62941025-62941026	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs187602615	chr7:62941033-62941034	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs528123049	chr7:62941085-62941086	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs556138828	chr7:62941088-62941089	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs569703103	chr7:62941096-62941097	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs193224413	chr7:62941125-62941126	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs555547013	chr7:62941176-62941177	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs375757803	chr7:62941220-62941221	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs540216484	chr7:62941265-62941266	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs562246147	chr7:62941279-62941280	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs541231091	chr7:62941287-62941288	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs557641456	chr7:62941288-62941289	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs577885755	chr7:62941317-62941318	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs10240860	chr7:62941320-62941321	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs573747192	chr7:62941322-62941323	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs34093219	chr7:62941338-62941339	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs560513483	chr7:62944412-62944413	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs111419222	chr7:62944413-62944414	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs187735721	chr7:62944467-62944468	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs199553053	chr7:62944470-62944471	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs190909728	chr7:62945332-62945333	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs561958381	chr7:62946086-62946087	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs528722897	chr7:62954358-62954359	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs545544683	chr7:62954366-62954367	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs565444387	chr7:62954398-62954399	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs542028635	chr7:63013113-63013114	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs201386952	chr7:63013232-63013233	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs200161976	chr7:63013247-63013248	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs556260569	chr7:63014473-63014474	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
31	rs151295693	chr7:63016103-63016104	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
32	rs530964486	chr7:63016113-63016114	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
33	rs138696627	chr7:63016132-63016133	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
34	rs371320030	chr7:63016133-63016134	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
35	rs114529525	chr7:63016145-63016146	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
36	rs190919869	chr7:63016150-63016151	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
37	rs535619568	chr7:63016247-63016248	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs549407482	chr7:63016269-63016270	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs377623877	chr7:63016279-63016280	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs370701031	chr7:63016303-63016304	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs566149696	chr7:63016336-63016337	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs535193168	chr7:63016343-63016344	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs558364019	chr7:63016348-63016349	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs7811041	chr7:63016349-63016350	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs578259029	chr7:63016352-63016353	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs537734012	chr7:63016436-63016437	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs560384160	chr7:63028008-63028009	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs148148076	chr7:63028013-63028014	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs532818536	chr7:63028026-63028027	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs544719503	chr7:63028037-63028038	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:63028000-63028200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:63028400-63030800	Weak transcription	Adipose Nuclei	Adipose
3	chr7:63030800-63031200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr7:63030800-63031200	Active TSS	Brain Cingulate Gyrus	brain
5	chr7:63030800-63031400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr7:63030800-63031400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
7	chr7:63030800-63031400	ZNF genes & repeats	Adipose Nuclei	Adipose
8	chr7:63030800-63031400	ZNF genes & repeats	Duodenum Mucosa	Duodenum
9	chr7:63030800-63031400	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
10	chr7:63030800-63031400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
11	chr7:63031000-63031200	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr7:63031000-63031200	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
13	chr7:63031000-63031400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr7:63031000-63031400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr7:63031000-63031400	ZNF genes & repeats	Fetal Lung	lung
16	chr7:63031000-63031400	ZNF genes & repeats	Pancreas	Pancrea
17	chr7:63031000-63031400	ZNF genes & repeats	Spleen	Spleen
18	chr7:63031000-63031600	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
19	chr7:63031000-63031800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr7:63031000-63033600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr7:63036800-63037400	ZNF genes & repeats	Adipose Nuclei	Adipose
22	chr7:63040400-63041400	ZNF genes & repeats	Adipose Nuclei	Adipose
23	chr7:63040800-63041200	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
24	chr7:63040800-63041400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr7:63124400-63127400	Enhancers	Dnd41	blood

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