Variant report

Variant	nsv970853
Chromosome Location	chr7:63331253-63339310
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:34)
CpG islands
(count:122)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:34 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CBX3	chr7:63337165-63337373	K562	blood:	n/a	n/a
2	E2F4	chr7:63338051-63338424	MCF10A-Er-Src	breast:	n/a	n/a
3	GATA3	chr7:63337032-63337600	A549	lung:	n/a	n/a
4	JUN	chr7:63338096-63338243	K562	blood:	n/a	n/a
5	KAP1	chr7:63336917-63337809	U2OS	brain:	n/a	n/a
6	KAP1	chr7:63336774-63337775	HEK293	kidney:	n/a	n/a
7	KAP1	chr7:63336568-63337808	K562	blood:	n/a	n/a
8	MAX	chr7:63338312-63338581	NB4	blood:	n/a	chr7:63338404-63338413 chr7:63338402-63338415 chr7:63338403-63338413 chr7:63338402-63338417 chr7:63338402-63338415 chr7:63338403-63338414 chr7:63338402-63338412 chr7:63338405-63338414 chr7:63338403-63338414 chr7:63338404-63338414 chr7:63338404-63338413 chr7:63338402-63338415 chr7:63338405-63338412
9	NR2F2	chr7:63335136-63335489	K562	blood:	n/a	n/a
10	NR2F2	chr7:63335133-63335552	K562	blood:	n/a	n/a
11	POLR2A	chr7:63333260-63333498	MCF10A-Er-Src	breast:	n/a	n/a
12	POLR2A	chr7:63338411-63338620	MCF10A-Er-Src	breast:	n/a	n/a
13	POLR2A	chr7:63337640-63337734	MCF10A-Er-Src	breast:	n/a	n/a
14	POLR2A	chr7:63335243-63335418	H1-hESC	embryonic stem cell:	n/a	n/a
15	RFX5	chr7:63339025-63339216	K562	blood:	n/a	n/a
16	RFX5	chr7:63338330-63338421	K562	blood:	n/a	n/a
17	RXRA	chr7:63335233-63335464	HepG2	liver:	n/a	n/a
18	SETDB1	chr7:63336709-63337891	K562	blood:	n/a	n/a
19	SETDB1	chr7:63336790-63337817	U2OS	brain:	n/a	n/a
20	SP1	chr7:63335191-63335554	HepG2	liver:	n/a	n/a
21	TCF12	chr7:63336924-63337653	A549	lung:	n/a	n/a
22	USF1	chr7:63337129-63337409	A549	lung:	n/a	n/a
23	ZBTB33	chr7:63335211-63335449	HepG2	liver:	n/a	n/a
24	ZNF143	chr7:63337135-63337645	H1-hESC	embryonic stem cell:	n/a	n/a
25	ZNF143	chr7:63337168-63337482	K562	blood:	n/a	n/a
26	ZNF274	chr7:63336218-63338028	H1-hESC	embryonic stem cell:	n/a	n/a
27	ZNF274	chr7:63336711-63337804	GM08714	blood:	n/a	n/a
28	ZNF274	chr7:63338409-63338602	H1-hESC	embryonic stem cell:	n/a	n/a
29	ZNF274	chr7:63333378-63334358	K562	blood:	n/a	n/a
30	ZNF274	chr7:63337006-63337669	GM12878	blood:	n/a	n/a
31	ZNF274	chr7:63336651-63337999	NT2-D1	testis:	n/a	n/a
32	ZNF274	chr7:63336750-63337759	HepG2	liver:	n/a	n/a
33	ZNF274	chr7:63336754-63337855	K562	blood:	n/a	n/a
34	ZNF274	chr7:63335483-63339498	K562	blood:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:63335020-63335070	HCT-116	colon:	n/a
2	chr7:63335020-63335070	SK-N-SH	brain:	n/a
3	chr7:63335020-63335070	HAEpiC	amniotic membrane:	n/a
4	chr7:63335020-63335070	HRCEpiC	kidney:	n/a
5	chr7:63335020-63335070	NB4	blood:	n/a
6	chr7:63334719-63334769	AG04450	lung:	fetal
7	chr7:63334719-63334769	HCT-116	colon:	n/a
8	chr7:63335020-63335070	HIPEpiC	eye:	n/a
9	chr7:63335020-63335070	AG09309	skin:	n/a
10	chr7:63334719-63334769	HPAEpiC	pulmonary alveolar:	n/a
11	chr7:63335020-63335070	HCM	heart:	n/a
12	chr7:63334719-63334769	Hepatocyte	liver:	n/a
13	chr7:63335020-63335070	HRPEpiC	eye:	n/a
14	chr7:63334719-63334769	Caco-2	colon:	n/a
15	chr7:63334719-63334769	HMEC	breast:	n/a
16	chr7:63335020-63335070	A549	lung:	n/a
17	chr7:63334719-63334769	AG04449	skin:	fetal
18	chr7:63335020-63335070	MCF-7	breast:	n/a
19	chr7:63334719-63334769	PANC-1	pancreas:	n/a
20	chr7:63334719-63334769	HIPEpiC	eye:	n/a
21	chr7:63335020-63335070	NH-A	brain:	n/a
22	chr7:63335020-63335070	BE2_C	brain:	n/a
23	chr7:63335020-63335070	GM12892	blood:	n/a
24	chr7:63335020-63335070	SAEC	small airway:	n/a
25	chr7:63334719-63334769	GM12892	blood:	n/a
26	chr7:63335020-63335070	AG09319	gingival:	n/a
27	chr7:63334719-63334769	NHBE	bronchial:	n/a
28	chr7:63334719-63334769	MCF-7	breast:	n/a
29	chr7:63334719-63334769	SK-N-SH	brain:	n/a
30	chr7:63334719-63334769	IMR90	lung:	fetal
31	chr7:63335020-63335070	AoSMC	blood vessel:	n/a
32	chr7:63335020-63335070	Caco-2	colon:	n/a
33	chr7:63334719-63334769	GM06990	blood:	n/a
34	chr7:63334719-63334769	AoSMC	blood vessel:	n/a
35	chr7:63334719-63334769	HRCEpiC	kidney:	n/a
36	chr7:63334719-63334769	PrEC	prostate:	n/a
37	chr7:63334719-63334769	SKMC	muscle:	n/a
38	chr7:63335020-63335070	HRE	kidney:	n/a
39	chr7:63335020-63335070	Hepatocyte	liver:	n/a
40	chr7:63334719-63334769	U87	brain:	n/a
41	chr7:63335020-63335070	ProgFib	skin:	n/a
42	chr7:63334719-63334769	ECC-1	luminal epithelium:	n/a
43	chr7:63334719-63334769	GM19239	blood:	n/a
44	chr7:63335020-63335070	HMEC	breast:	n/a
45	chr7:63335020-63335070	AG04450	lung:	fetal
46	chr7:63335020-63335070	PFSK-1	brain:	n/a
47	chr7:63335020-63335070	NHBE	bronchial:	n/a
48	chr7:63335020-63335070	HL-60	blood:	n/a
49	chr7:63335020-63335070	HepG2	liver:	n/a
50	chr7:63334719-63334769	SK-N-MC	brain:	n/a

No data

Variant related genes	Relation type
ENSG00000225451	TF binding region
ENSG00000225451	CpG island

Extended variants
information (count: 173 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:173 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537976874	chr7:63333296-63333297	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs574212643	chr7:63333307-63333308	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs534178765	chr7:63333313-63333314	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs180732143	chr7:63333328-63333329	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs543348612	chr7:63333330-63333331	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs56229596	chr7:63333359-63333360	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs567959872	chr7:63333437-63333438	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs533739593	chr7:63333452-63333453	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs553509489	chr7:63333469-63333470	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs183723515	chr7:63333482-63333483	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs56310951	chr7:63333551-63333552	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs556549844	chr7:63333643-63333644	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs113972398	chr7:63333672-63333673	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs144598349	chr7:63333780-63333781	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs139447060	chr7:63333794-63333795	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs143978405	chr7:63333875-63333876	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs113826904	chr7:63333877-63333878	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs533049607	chr7:63333879-63333880	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs546237816	chr7:63333912-63333913	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs572527145	chr7:63333926-63333927	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs190573808	chr7:63333928-63333929	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs556200012	chr7:63333989-63333990	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs533704443	chr7:63333994-63333995	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs73139559	chr7:63334042-63334043	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs562542159	chr7:63334067-63334068	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs531203050	chr7:63334069-63334070	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs182300728	chr7:63334098-63334099	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs186952785	chr7:63334101-63334102	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs369988711	chr7:63334137-63334138	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs191419798	chr7:63334180-63334181	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs547210590	chr7:63334205-63334206	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs570290849	chr7:63334215-63334216	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs35220996	chr7:63334222-63334223	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs146414572	chr7:63334259-63334260	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs556176443	chr7:63334321-63334322	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs570080799	chr7:63334334-63334335	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs535485773	chr7:63334349-63334350	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs542835579	chr7:63334719-63334720	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
39	rs60002939	chr7:63334727-63334728	Inactive region	CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs367758187	chr7:63334731-63334732	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
41	rs370169344	chr7:63334737-63334738	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
42	rs564238709	chr7:63335021-63335022	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
43	rs577541903	chr7:63335039-63335040	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
44	rs36070877	chr7:63335052-63335053	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
45	rs112319497	chr7:63335061-63335062	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
46	rs151171022	chr7:63335066-63335067	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
47	rs529210281	chr7:63335069-63335070	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
48	rs140550489	chr7:63335145-63335146	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs150467617	chr7:63335148-63335149	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs72656980	chr7:63335157-63335158	Inactive region	TF binding region	1 gene(s)	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
Bipolar disorder	19114987	CNVD
Schizophrenia	23813976	CNVD
Schizophrenia	20967226	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:63335600-63338000	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
2	chr7:63335600-63338600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr7:63335600-63341400	ZNF genes & repeats	Adipose Nuclei	Adipose
4	chr7:63335800-63337600	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
5	chr7:63335800-63338800	ZNF genes & repeats	Liver	Liver
6	chr7:63336000-63337800	ZNF genes & repeats	Brain Hippocampus Middle	brain
7	chr7:63336000-63338000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
8	chr7:63336000-63340800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr7:63337000-63337600	ZNF genes & repeats	Duodenum Mucosa	Duodenum
10	chr7:63337000-63338600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
11	chr7:63337000-63339000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr7:63338600-63339800	Weak transcription	Duodenum Smooth Muscle	Duodenum

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