Variant report

Variant	nsv1024341
Chromosome Location	chr7:57190580-57233915
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:51)
CpG islands
(count:306)
Chromatin interactive
region (count:0)
LncRNA
region (count:9)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:51 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr7:57226466-57226562	K562	blood:	n/a	n/a
2	ATF1	chr7:57226381-57226494	K562	blood:	n/a	n/a
3	CBX3	chr7:57233156-57233373	K562	blood:	n/a	n/a
4	CCNT2	chr7:57218095-57218295	K562	blood:	n/a	n/a
5	CEBPB	chr7:57207390-57207740	IMR90	lung:	n/a	chr7:57207516-57207527
6	CEBPB	chr7:57208705-57208978	A549	lung:	n/a	n/a
7	CEBPB	chr7:57205337-57205640	A549	lung:	n/a	n/a
8	CEBPB	chr7:57207363-57207773	A549	lung:	n/a	chr7:57207516-57207527
9	CEBPB	chr7:57205347-57205603	IMR90	lung:	n/a	n/a
10	CEBPB	chr7:57208653-57208975	IMR90	lung:	n/a	n/a
11	CEBPB	chr7:57208651-57208988	HepG2	liver:	n/a	n/a
12	CEBPB	chr7:57209323-57209644	HepG2	liver:	n/a	n/a
13	CEBPB	chr7:57205308-57205621	HepG2	liver:	n/a	n/a
14	CEBPB	chr7:57208753-57208903	MCF-7	breast:	n/a	n/a
15	CEBPB	chr7:57207350-57207788	HepG2	liver:	n/a	chr7:57207516-57207527
16	CTCF	chr7:57194375-57194444	Spleen_OC	spleen:	n/a	n/a
17	CTCF	chr7:57202133-57202175	GM20000	blood:	n/a	n/a
18	CTCF	chr7:57194530-57194625	Spleen_OC	spleen:	n/a	n/a
19	CTCF	chr7:57199163-57199206	Kidney_OC	kidney:	n/a	n/a
20	CTCF	chr7:57212574-57212622	Medullo	brain:	n/a	n/a
21	CTCF	chr7:57224676-57224770	MCF-7	breast:	n/a	n/a
22	JUN	chr7:57227986-57228132	K562	blood:	n/a	n/a
23	JUND	chr7:57207769-57207969	HepG2	liver:	n/a	chr7:57207866-57207877
24	JUND	chr7:57206088-57206357	HepG2	liver:	n/a	chr7:57206237-57206248
25	KAP1	chr7:57232792-57233536	HEK293	kidney:	n/a	chr7:57232795-57232803
26	KAP1	chr7:57232786-57233594	K562	blood:	n/a	chr7:57232795-57232803
27	POLR2A	chr7:57230077-57230209	A549	lung:	n/a	n/a
28	POLR2A	chr7:57214884-57214912	MCF10A-Er-Src	breast:	n/a	n/a
29	POLR2A	chr7:57230768-57230865	MCF10A-Er-Src	breast:	n/a	n/a
30	POLR2A	chr7:57200009-57200144	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr7:57217823-57217955	GM12878	blood:	n/a	n/a
32	POLR2A	chr7:57216622-57216628	MCF10A-Er-Src	breast:	n/a	n/a
33	POLR2A	chr7:57200559-57200568	Gliobla	brain:	n/a	n/a
34	POLR2A	chr7:57212381-57212473	Hela-S3	cervix:	n/a	n/a
35	POLR2A	chr7:57223852-57224011	MCF10A-Er-Src	breast:	n/a	n/a
36	SETDB1	chr7:57232751-57234006	K562	blood:	n/a	n/a
37	SETDB1	chr7:57232827-57233510	U2OS	brain:	n/a	n/a
38	STAT3	chr7:57196114-57196122	MCF10A-Er-Src	breast:	n/a	n/a
39	TCF12	chr7:57232758-57233466	A549	lung:	n/a	n/a
40	ZNF143	chr7:57233011-57233354	K562	blood:	n/a	n/a
41	ZNF143	chr7:57232963-57233478	H1-hESC	embryonic stem cell:	n/a	n/a
42	ZNF143	chr7:57232969-57232989	Hela-S3	cervix:	n/a	n/a
43	ZNF274	chr7:57232280-57233959	H1-hESC	embryonic stem cell:	n/a	n/a
44	ZNF274	chr7:57231694-57234105	K562	blood:	n/a	n/a
45	ZNF274	chr7:57232767-57233533	GM12878	blood:	n/a	n/a
46	ZNF274	chr7:57232165-57232566	GM08714	blood:	n/a	n/a
47	ZNF274	chr7:57211778-57211967	H1-hESC	embryonic stem cell:	n/a	n/a
48	ZNF274	chr7:57232561-57233633	NT2-D1	testis:	n/a	n/a
49	ZNF274	chr7:57232707-57233612	HepG2	liver:	n/a	n/a
50	ZNF274	chr7:57232836-57233581	GM08714	blood:	n/a	n/a

(count:306 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:57208277-57208327	NB4	blood:	n/a
2	chr7:57208277-57208327	NB4	blood:	n/a
3	chr7:57207547-57207597	MCF10A-Er-Src	breast:	n/a
4	chr7:57208277-57208327	AG04450	lung:	fetal
5	chr7:57208277-57208327	SK-N-MC	brain:	n/a
6	chr7:57208277-57208327	PrEC	prostate:	n/a
7	chr7:57208277-57208327	NT2-D1	testis:	n/a
8	chr7:57207547-57207597	GM06990	blood:	n/a
9	chr7:57207952-57208002	SK-N-MC	brain:	n/a
10	chr7:57200616-57200666	BJ	skin:	n/a
11	chr7:57218214-57218264	HUVEC	blood vessel:	n/a
12	chr7:57207952-57208002	AG09319	gingival:	n/a
13	chr7:57200616-57200666	BE2_C	brain:	n/a
14	chr7:57207547-57207597	ECC-1	luminal epithelium:	n/a
15	chr7:57207547-57207597	HUVEC	blood vessel:	n/a
16	chr7:57208277-57208327	HepG2	liver:	n/a
17	chr7:57208277-57208327	MCF-7	breast:	n/a
18	chr7:57207547-57207597	HRPEpiC	eye:	n/a
19	chr7:57218214-57218264	HL-60	blood:	n/a
20	chr7:57207547-57207597	PrEC	prostate:	n/a
21	chr7:57207547-57207597	AG04449	skin:	fetal
22	chr7:57218214-57218264	GM06990	blood:	n/a
23	chr7:57207952-57208002	HCM	heart:	n/a
24	chr7:57207547-57207597	HPAEpiC	pulmonary alveolar:	n/a
25	chr7:57208277-57208327	IMR90	lung:	fetal
26	chr7:57208277-57208327	Caco-2	colon:	n/a
27	chr7:57200616-57200666	HEEpiC	esophagus:	n/a
28	chr7:57208277-57208327	HUVEC	blood vessel:	n/a
29	chr7:57218214-57218264	HPAEpiC	pulmonary alveolar:	n/a
30	chr7:57200616-57200666	HAEpiC	amniotic membrane:	n/a
31	chr7:57218214-57218264	PFSK-1	brain:	n/a
32	chr7:57208277-57208327	RPTEC	kidney:	n/a
33	chr7:57218214-57218264	GM12878	blood:	n/a
34	chr7:57207952-57208002	MCF10A-Er-Src	breast:	n/a
35	chr7:57200616-57200666	HRCEpiC	kidney:	n/a
36	chr7:57200616-57200666	ovcar-3	ovarian:	n/a
37	chr7:57218214-57218264	ECC-1	luminal epithelium:	n/a
38	chr7:57200616-57200666	CMK	blood:	n/a
39	chr7:57200616-57200666	GM12878	blood:	n/a
40	chr7:57208277-57208327	T-47D	breast:	n/a
41	chr7:57208277-57208327	CMK	blood:	n/a
42	chr7:57207952-57208002	GM19239	blood:	n/a
43	chr7:57218214-57218264	AG04449	skin:	fetal
44	chr7:57200616-57200666	SK-N-SH	brain:	n/a
45	chr7:57207547-57207597	AG09319	gingival:	n/a
46	chr7:57207952-57208002	NHDF-neo	bronchial:	n/a
47	chr7:57218214-57218264	RPTEC	kidney:	n/a
48	chr7:57208277-57208327	HCT-116	colon:	n/a
49	chr7:57200616-57200666	SAEC	small airway:	n/a
50	chr7:57200616-57200666	IMR90	lung:	fetal

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF716-22	chr7:57208355-57208407	NONHSAT120810
2	lnc-ZNF716-22	chr7:57207832-57208407	NONHSAT120808
3	lnc-ZNF716-22	chr7:57208769-57208881	NONHSAT120808
4	lnc-ZNF716-22	chr7:57208769-57208881	NONHSAT120809
5	lnc-ZNF716-22	chr7:57221319-57221466	NONHSAT120808
6	lnc-ZNF716-22	chr7:57208769-57208881	NONHSAT120810
7	lnc-ZNF716-22	chr7:57221319-57221466	NONHSAT120809
8	lnc-ZNF716-22	chr7:57216056-57216137	NONHSAT120810
9	lnc-ZNF716-22	chr7:57207842-57207859	NONHSAT120809

No data

Variant related genes	Relation type
ENSG00000235095	TF binding region
ENSG00000231537	TF binding region
ZNF479	TF binding region
MTND5P6	TF binding region
MTND4P4	TF binding region
ENSG00000235095	CpG island
ENSG00000231537	CpG island
ZNF479	CpG island
MTND5P6	CpG island
MTND4P4	CpG island

Extended variants
information (count: 481 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:481 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547406689	chr7:57190828-57190829	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs565791224	chr7:57190868-57190869	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs533012660	chr7:57190871-57190872	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs369354644	chr7:57190873-57190874	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs541514608	chr7:57190934-57190935	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs569800003	chr7:57190974-57190975	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs13231419	chr7:57190991-57190992	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs555664712	chr7:57190998-57190999	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs115423873	chr7:57191031-57191032	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs535848065	chr7:57191036-57191037	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs553700231	chr7:57191069-57191070	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs572226663	chr7:57191074-57191075	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs181916228	chr7:57191094-57191095	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs575073018	chr7:57191105-57191106	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs149463037	chr7:57191170-57191171	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs186192539	chr7:57191185-57191186	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs370644020	chr7:57200039-57200040	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs577084403	chr7:57200076-57200077	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs556481430	chr7:57200116-57200117	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs185881859	chr7:57200148-57200149	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs562754413	chr7:57200149-57200150	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs187866685	chr7:57200213-57200214	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs28780980	chr7:57200217-57200218	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs7799425	chr7:57200222-57200223	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs528565440	chr7:57200302-57200303	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs546902527	chr7:57200350-57200351	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs72499864	chr7:57200358-57200359	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs532583303	chr7:57200359-57200360	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs551298762	chr7:57200360-57200361	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs192387797	chr7:57200362-57200363	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs535849364	chr7:57200381-57200382	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs565588111	chr7:57206603-57206604	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs532639619	chr7:57206656-57206657	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs183164165	chr7:57206670-57206671	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs186155560	chr7:57206692-57206693	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs529634391	chr7:57206697-57206698	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs117870900	chr7:57206714-57206715	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs566396787	chr7:57206756-57206757	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs190576887	chr7:57206762-57206763	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs150074530	chr7:57206773-57206774	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs376988051	chr7:57206780-57206781	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs570777955	chr7:57206794-57206795	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs371360486	chr7:57206813-57206814	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs112081650	chr7:57206850-57206851	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs4530988	chr7:57206861-57206862	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs146120699	chr7:57206880-57206881	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs377340332	chr7:57206908-57206909	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs72499866	chr7:57206933-57206934	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs183502115	chr7:57206934-57206935	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs532364966	chr7:57206936-57206937	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
Neuroblastoma	18923191	CNVD
Wilms tumour	21544195	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Medulloblastoma	21979893	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	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
Endometrioid adenocarcinoma	16974079	CNVD
Autism	22495311	CNVD
Biliary cancer	19435499	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD
Esophageal cancer	21851588	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Intracranial ependymoma	16609018	CNVD
Lung cancer	21911935	CNVD
Urothelial cell carcinoma	18451213	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	19455253	CNVD
Lung cancer	17925434	CNVD
Glioma	24330732	CNVD
Lung adenocarcinoma	23938291	CNVD
Glioma	17634744	CNVD
Oral squamous cell carcinoma	19276369	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Lung cancer	20031968	CNVD
Glioblastoma	17090523	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Glioma	17123091	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Medullary thyroid carcinoma	18765511	CNVD
small cell lung cancer	20016488	CNVD
Bipolar disorder	19114987	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Williams Syndrome	20824207	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:57190800-57191200	ZNF genes & repeats	Liver	Liver
2	chr7:57200000-57200400	ZNF genes & repeats	Liver	Liver
3	chr7:57206600-57209400	ZNF genes & repeats	Adipose Nuclei	Adipose
4	chr7:57206800-57209400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
5	chr7:57207000-57207600	Active TSS	Fetal Heart	heart
6	chr7:57207000-57210200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr7:57207600-57209000	Weak transcription	Fetal Heart	heart
8	chr7:57209000-57209400	Active TSS	Fetal Heart	heart
9	chr7:57217200-57217400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr7:57228800-57239000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr7:57229000-57229800	Active TSS	Fetal Heart	heart
12	chr7:57229000-57230000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
13	chr7:57229400-57229800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
14	chr7:57231200-57236000	ZNF genes & repeats	Liver	Liver
15	chr7:57231400-57232200	ZNF genes & repeats	Brain Hippocampus Middle	brain
16	chr7:57232000-57233800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
17	chr7:57232000-57234200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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