Variant report

Variant	esv2759572
Chromosome Location	chr7:150233827-150246984
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr7:150235726-150235766	K562	blood:	n/a	n/a
2	CEBPB	chr7:150235713-150235754	A549	lung:	n/a	n/a
3	CTCF	chr7:150237030-150237048	Kidney_OC	kidney:	n/a	n/a
4	GATA3	chr7:150234359-150234555	SH-SY5Y	brain:	n/a	n/a
5	IRF1	chr7:150246886-150246904	K562	blood:	n/a	n/a
6	JUN	chr7:150246758-150246777	K562	blood:	n/a	n/a
7	KAP1	chr7:150246385-150247325	K562	blood:	n/a	n/a
8	KAP1	chr7:150235403-150235711	HEK293	kidney:	n/a	n/a
9	REST	chr7:150235326-150235431	PANC-1	pancreas:	n/a	n/a
10	SETDB1	chr7:150235298-150235762	U2OS	brain:	n/a	n/a
11	SETDB1	chr7:150246608-150247024	U2OS	brain:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:150232590..150235233-chr7:150277857..150280710,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GIMAP6-3	chr7:150238842-150239186	NONHSAT124143

No data

Variant related genes	Relation type
ALDH7A1P3	TF binding region

Extended variants
information (count: 156 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:156 , 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	rs1916012	chr7:150233827-150233828	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs543950662	chr7:150233842-150233843	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs563673115	chr7:150233868-150233869	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs77485618	chr7:150233904-150233905	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs143550795	chr7:150233937-150233938	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs566284066	chr7:150233975-150233976	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs59567978	chr7:150234013-150234014	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs1916011	chr7:150234041-150234042	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs551510715	chr7:150234042-150234043	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs76854893	chr7:150234045-150234046	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs1916010	chr7:150234051-150234052	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs56666549	chr7:150234054-150234055	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs117817716	chr7:150234058-150234059	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs535912124	chr7:150234069-150234070	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs115157483	chr7:150234146-150234147	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs573130265	chr7:150234147-150234148	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs373089355	chr7:150234148-150234149	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs183996720	chr7:150234159-150234160	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs558752686	chr7:150234161-150234162	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs140591036	chr7:150234165-150234166	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs150437946	chr7:150234166-150234167	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs78851838	chr7:150234190-150234191	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs575382240	chr7:150234238-150234239	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs556708325	chr7:150234282-150234283	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs575591811	chr7:150234286-150234287	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs187360511	chr7:150234297-150234298	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs542701772	chr7:150234325-150234326	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs145559070	chr7:150234340-150234341	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs528717461	chr7:150234352-150234353	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs551671316	chr7:150234376-150234377	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs571477606	chr7:150234385-150234386	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs114040141	chr7:150234388-150234389	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs192265290	chr7:150234402-150234403	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs6968637	chr7:150234430-150234431	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs59519469	chr7:150234449-150234450	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs184642482	chr7:150234473-150234474	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs6464075	chr7:150234541-150234542	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs566490713	chr7:150234569-150234570	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs370458661	chr7:150234584-150234585	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs538907877	chr7:150234602-150234603	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs552935990	chr7:150234721-150234722	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs57507138	chr7:150234722-150234723	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs386719372	chr7:150234749-150234750	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs148888465	chr7:150234750-150234751	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs190492466	chr7:150234751-150234752	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs368048353	chr7:150234796-150234797	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs111364511	chr7:150234909-150234910	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs182476612	chr7:150234917-150234918	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs73463338	chr7:150234932-150234933	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs553242120	chr7:150234937-150234938	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
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
Medulloblastoma	21979893	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
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Wilms tumour	21544195	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
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
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Papillary thyroid carcinoma	21436994	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Hodgkin''s lymphoma	18179710	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Myelodysplastic syndrome	17634407	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	18923191	CNVD
Schizophrenia	17646849	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	16864856	CNVD
Autism	20808228	CNVD
Breast cancer	21509527	CNVD
Ovarian cancer	21720365	CNVD
Heart disease	21282601	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Glioblastoma multiforme	17002787	CNVD
Lobular carcinoma	20920651	CNVD
Long-qt syndrome	20920651	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Liver carcinoma	19366792	CNVD
Long-qt syndrome	17576883	CNVD
Bradycardia syndrome	17576883	CNVD
Sudden cardiac death	19188705	CNVD
renal disease	17924346	CNVD
Ovarian cancer	21781307	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Ependymoma	20639864	CNVD
Pancreatic cancer	17952125	CNVD
Chordoma	21215367	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150230600-150234200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr7:150233400-150236000	ZNF genes & repeats	Dnd41	blood
3	chr7:150234200-150236600	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
4	chr7:150234800-150236200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
5	chr7:150235000-150236600	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
6	chr7:150240800-150241000	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
7	chr7:150246800-150247600	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr7:150246800-150247800	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood

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