Variant report

Variant	esv3405232
Chromosome Location	chr7:57883610-57895808
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:52)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:52 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr7:57886700-57886850	NHLF	lung:	n/a	n/a
2	CTCF	chr7:57886380-57886530	GM12871	blood:	n/a	n/a
3	CTCF	chr7:57894413-57894427	Medullo	brain:	n/a	n/a
4	ELK1	chr7:57885599-57885689	Hela-S3	cervix:	n/a	n/a
5	EP300	chr7:57884943-57885481	GM12878	blood:	n/a	chr7:57885059-57885069
6	FOSL2	chr7:57889953-57890257	HepG2	liver:	n/a	n/a
7	FOSL2	chr7:57894013-57894257	HepG2	liver:	n/a	n/a
8	FOSL2	chr7:57887938-57888425	HepG2	liver:	n/a	n/a
9	FOSL2	chr7:57885019-57885429	HepG2	liver:	n/a	n/a
10	FOXA1	chr7:57884886-57885188	HepG2	liver:	n/a	chr7:57885060-57885072
11	GABPA	chr7:57887987-57888364	Hela-S3	cervix:	n/a	n/a
12	GATA3	chr7:57886145-57886626	MCF-7	breast:	n/a	n/a
13	IRF4	chr7:57888181-57888618	GM12878	blood:	n/a	n/a
14	JUND	chr7:57885262-57885452	HepG2	liver:	n/a	n/a
15	JUND	chr7:57889651-57889848	HepG2	liver:	n/a	n/a
16	JUND	chr7:57888196-57888386	HepG2	liver:	n/a	n/a
17	JUND	chr7:57887341-57887488	HepG2	liver:	n/a	n/a
18	PAX5	chr7:57889112-57889461	GM12878	blood:	n/a	n/a
19	PAX5	chr7:57888229-57888887	GM12878	blood:	n/a	n/a
20	PAX5	chr7:57887244-57887661	GM12878	blood:	n/a	n/a
21	POLR2A	chr7:57888762-57888847	A549	lung:	n/a	n/a
22	POLR2A	chr7:57892819-57892888	A549	lung:	n/a	n/a
23	POU2F2	chr7:57887925-57888295	GM12878	blood:	n/a	n/a
24	POU2F2	chr7:57887211-57887589	GM12878	blood:	n/a	n/a
25	RCOR1	chr7:57886058-57886221	HepG2	liver:	n/a	n/a
26	REST	chr7:57894981-57895542	PANC-1	pancreas:	n/a	chr7:57895459-57895472 chr7:57895500-57895510
27	RXRA	chr7:57888039-57888309	HepG2	liver:	n/a	n/a
28	RXRA	chr7:57890873-57891240	HepG2	liver:	n/a	n/a
29	RXRA	chr7:57888691-57889454	HepG2	liver:	n/a	n/a
30	RXRA	chr7:57884896-57885570	HepG2	liver:	n/a	n/a
31	SIN3AK20	chr7:57889982-57890154	HepG2	liver:	n/a	n/a
32	SIN3AK20	chr7:57890000-57890148	HepG2	liver:	n/a	n/a
33	SIN3AK20	chr7:57889075-57889299	HepG2	liver:	n/a	n/a
34	SIX5	chr7:57888676-57888984	K562	blood:	n/a	n/a
35	SP1	chr7:57889962-57890219	HepG2	liver:	n/a	n/a
36	SP1	chr7:57887200-57887542	HepG2	liver:	n/a	n/a
37	SP1	chr7:57889972-57890450	GM12878	blood:	n/a	n/a
38	SPI1	chr7:57889134-57889361	K562	blood:	n/a	n/a
39	SRF	chr7:57895629-57895912	GM12878	blood:	n/a	n/a
40	SUZ12	chr7:57886306-57886681	H1-hESC	embryonic stem cell:	n/a	n/a
41	TCF12	chr7:57885102-57885308	HepG2	liver:	n/a	n/a
42	USF1	chr7:57889669-57889856	HepG2	liver:	n/a	n/a
43	USF1	chr7:57889712-57889837	HepG2	liver:	n/a	n/a
44	ZBTB33	chr7:57890021-57890144	HepG2	liver:	n/a	n/a
45	ZBTB33	chr7:57888066-57888330	GM12878	blood:	n/a	n/a
46	ZBTB33	chr7:57885122-57885523	GM12878	blood:	n/a	n/a
47	ZBTB33	chr7:57888141-57888837	GM12878	blood:	n/a	n/a
48	ZBTB33	chr7:57889593-57889868	HepG2	liver:	n/a	n/a
49	ZBTB33	chr7:57887293-57887554	HepG2	liver:	n/a	n/a
50	ZBTB33	chr7:57892360-57892670	HepG2	liver:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:57895070-57895120	HAEpiC	amniotic membrane:	n/a
2	chr7:57895070-57895120	T-47D	breast:	n/a
3	chr7:57895070-57895120	HCM	heart:	n/a
4	chr7:57895070-57895120	PANC-1	pancreas:	n/a
5	chr7:57895070-57895120	GM06990	blood:	n/a
6	chr7:57895070-57895120	HIPEpiC	eye:	n/a
7	chr7:57895070-57895120	HRCEpiC	kidney:	n/a
8	chr7:57895070-57895120	ProgFib	skin:	n/a
9	chr7:57895070-57895120	HEEpiC	esophagus:	n/a
10	chr7:57895070-57895120	MCF-7	breast:	n/a
11	chr7:57895070-57895120	HRE	kidney:	n/a
12	chr7:57895070-57895120	HEK293	kidney:	embryo
13	chr7:57895070-57895120	K562	blood:	n/a
14	chr7:57895070-57895120	HUVEC	blood vessel:	n/a
15	chr7:57895070-57895120	GM12891	blood:	n/a
16	chr7:57895070-57895120	GM12878	blood:	n/a
17	chr7:57895070-57895120	NHDF-neo	bronchial:	n/a
18	chr7:57895070-57895120	SK-N-SH_RA	brain:	n/a
19	chr7:57895070-57895120	HL-60	blood:	n/a
20	chr7:57895070-57895120	SK-N-SH	brain:	n/a
21	chr7:57895070-57895120	IMR90	lung:	fetal
22	chr7:57895070-57895120	PrEC	prostate:	n/a
23	chr7:57895070-57895120	AG04449	skin:	fetal
24	chr7:57895070-57895120	AG09319	gingival:	n/a
25	chr7:57895070-57895120	HCPEpiC	choroid plexus:	n/a
26	chr7:57895070-57895120	ECC-1	luminal epithelium:	n/a
27	chr7:57895070-57895120	NB4	blood:	n/a
28	chr7:57895070-57895120	Hela-S3	cervix:	n/a
29	chr7:57895070-57895120	NH-A	brain:	n/a
30	chr7:57895070-57895120	RPTEC	kidney:	n/a
31	chr7:57895070-57895120	H1-hESC	embryonic stem cell:	embryo
32	chr7:57895070-57895120	GM19239	blood:	n/a
33	chr7:57895070-57895120	LNCaP	prostate:	n/a
34	chr7:57895070-57895120	Jurkat	blood:	n/a
35	chr7:57895070-57895120	MCF10A-Er-Src	breast:	n/a
36	chr7:57895070-57895120	Caco-2	colon:	n/a
37	chr7:57895070-57895120	BJ	skin:	n/a
38	chr7:57895070-57895120	SKMC	muscle:	n/a
39	chr7:57895070-57895120	BE2_C	brain:	n/a
40	chr7:57895070-57895120	PFSK-1	brain:	n/a
41	chr7:57895070-57895120	AG09309	skin:	n/a
42	chr7:57895070-57895120	U87	brain:	n/a
43	chr7:57895070-57895120	HepG2	liver:	n/a
44	chr7:57895070-57895120	SK-N-MC	brain:	n/a
45	chr7:57895070-57895120	A549	lung:	n/a
46	chr7:57895070-57895120	NHBE	bronchial:	n/a
47	chr7:57895070-57895120	Hepatocyte	liver:	n/a
48	chr7:57895070-57895120	SAEC	small airway:	n/a
49	chr7:57895070-57895120	GM12892	blood:	n/a
50	chr7:57895070-57895120	AG04450	lung:	fetal

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF716-24	chr7:57894964-57895190	NONHSAT120882
2	lnc-ZNF716-24	chr7:57888037-57888136	NONHSAT120882

No data

Variant related genes	Relation type
ENSG00000231484	TF binding region
ENSG00000231232	TF binding region
ENSG00000223836	TF binding region
ENSG00000231484	CpG island
ENSG00000231232	CpG island
ENSG00000223836	CpG island

Extended variants
information (count: 262 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:262 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs77162804	chr7:57884889-57884890	Inactive region	TF binding region	3 gene(s)	Overlapped CNVs	n/a
2	rs529733362	chr7:57884908-57884909	Inactive region	TF binding region	3 gene(s)	Overlapped CNVs	n/a
3	rs77612199	chr7:57884913-57884914	Inactive region	TF binding region	3 gene(s)	Overlapped CNVs	n/a
4	rs548256066	chr7:57884923-57884924	Inactive region	TF binding region	3 gene(s)	Overlapped CNVs	n/a
5	rs76812911	chr7:57884937-57884938	Inactive region	TF binding region	3 gene(s)	Overlapped CNVs	n/a
6	rs190820199	chr7:57884963-57884964	Inactive region	TF binding region	3 gene(s)	Overlapped CNVs	n/a
7	rs566467048	chr7:57884970-57884971	Inactive region	TF binding region	3 gene(s)	Overlapped CNVs	n/a
8	rs2315985	chr7:57884986-57884987	Inactive region	TF binding region	3 gene(s)	Overlapped CNVs	n/a
9	rs113815120	chr7:57884989-57884990	Inactive region	TF binding region	3 gene(s)	Overlapped CNVs	n/a
10	rs200268059	chr7:57884990-57884991	Inactive region	TF binding region	3 gene(s)	Overlapped CNVs	n/a
11	rs78983081	chr7:57885002-57885003	Inactive region	TF binding region	3 gene(s)	Overlapped CNVs	n/a
12	rs183076447	chr7:57885010-57885011	Inactive region	TF binding region	3 gene(s)	Overlapped CNVs	n/a
13	rs368360344	chr7:57885044-57885045	Inactive region	TF binding region	3 gene(s)	Overlapped CNVs	n/a
14	rs112982361	chr7:57885054-57885055	Inactive region	TF binding region	3 gene(s)	Overlapped CNVs	n/a
15	rs200241570	chr7:57885093-57885094	Inactive region	TF binding region	3 gene(s)	Overlapped CNVs	n/a
16	rs4062111	chr7:57885111-57885112	Inactive region	TF binding region	3 gene(s)	Overlapped CNVs	n/a
17	rs185463640	chr7:57885115-57885116	Inactive region	TF binding region	3 gene(s)	Overlapped CNVs	n/a
18	rs201559366	chr7:57885130-57885131	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
19	rs3968629	chr7:57885137-57885138	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
20	rs145500505	chr7:57885139-57885140	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
21	rs538077548	chr7:57885140-57885141	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
22	rs200780592	chr7:57885149-57885150	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
23	rs4062110	chr7:57885150-57885151	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
24	rs201736124	chr7:57885163-57885164	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
25	rs575738245	chr7:57885182-57885183	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
26	rs536336413	chr7:57885198-57885199	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
27	rs554551720	chr7:57885215-57885216	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
28	rs2315984	chr7:57885232-57885233	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
29	rs2315983	chr7:57885233-57885234	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
30	rs572852991	chr7:57885237-57885238	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
31	rs112432145	chr7:57885241-57885242	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
32	rs540544518	chr7:57885283-57885284	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
33	rs4062109	chr7:57885289-57885290	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
34	rs2873037	chr7:57885294-57885295	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
35	rs4062108	chr7:57885304-57885305	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
36	rs200055690	chr7:57885310-57885311	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
37	rs201254403	chr7:57885323-57885324	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
38	rs201861484	chr7:57885369-57885370	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
39	rs565536919	chr7:57885382-57885383	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
40	rs199851108	chr7:57885383-57885384	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
41	rs73356841	chr7:57885390-57885391	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
42	rs577454826	chr7:57885403-57885404	Enhancers ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
43	rs190269194	chr7:57885439-57885440	Enhancers ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
44	rs544819656	chr7:57885451-57885452	Enhancers ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
45	rs200455194	chr7:57885455-57885456	Enhancers ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
46	rs200976806	chr7:57885456-57885457	Enhancers ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
47	rs562940086	chr7:57885460-57885461	Enhancers ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
48	rs2930092	chr7:57885500-57885501	Enhancers ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
49	rs2930091	chr7:57885517-57885518	Enhancers ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
50	rs544172254	chr7:57885528-57885529	Enhancers ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
Neuroblastoma	18923191	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
Wilms tumour	21544195	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
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
T-cell prolymphocytic leukemia	19278963	CNVD
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	17713554	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
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
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:57885400-57885800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
2	chr7:57885400-57886600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
3	chr7:57885400-57886600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr7:57885400-57886800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
5	chr7:57885800-57886800	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
6	chr7:57886000-57886400	ZNF genes & repeats	Esophagus	oesophagus
7	chr7:57886000-57886400	ZNF genes & repeats	Pancreas	Pancrea
8	chr7:57886000-57886600	ZNF genes & repeats	Gastric	stomach
9	chr7:57886000-57886800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr7:57886200-57886800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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