Variant report

Variant	esv2144252
Chromosome Location	chr4:7799729-7800170
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:30)
CpG islands
(count:62)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:30 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CBX3	chr4:7799956-7800259	K562	blood:	n/a	n/a
2	CEBPB	chr4:7800044-7800379	IMR90	lung:	n/a	n/a
3	CHD2	chr4:7799966-7800297	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTCF	chr4:7800100-7800250	GM12866	blood:	n/a	n/a
5	CTCF	chr4:7800000-7800150	HepG2	liver:	n/a	n/a
6	CTCF	chr4:7800120-7800270	HBMEC	blood vessel:	n/a	n/a
7	CTCF	chr4:7800120-7800270	HEK293	kidney:	n/a	n/a
8	CTCF	chr4:7800140-7800290	GM12865	blood:	n/a	n/a
9	CTCF	chr4:7799920-7800070	Fibrobl	skin:	n/a	n/a
10	FOS	chr4:7799741-7800327	K562	blood:	n/a	n/a
11	NFYA	chr4:7799443-7800428	Hela-S3	cervix:	n/a	n/a
12	NFYA	chr4:7799602-7800261	K562	blood:	n/a	n/a
13	NFYB	chr4:7799622-7800463	GM12878	blood:	n/a	chr4:7799806-7799821
14	NFYB	chr4:7799600-7800399	K562	blood:	n/a	chr4:7799806-7799821
15	NFYB	chr4:7799553-7800582	Hela-S3	cervix:	n/a	chr4:7799806-7799821
16	PBX3	chr4:7799833-7800153	GM12878	blood:	n/a	n/a
17	POLR2A	chr4:7799750-7799761	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr4:7799874-7800110	MCF-7	breast:	n/a	n/a
19	POLR2A	chr4:7799396-7801058	PANC-1	pancreas:	n/a	n/a
20	POLR2A	chr4:7800030-7800057	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr4:7799800-7799892	Hela-S3	cervix:	n/a	n/a
22	POLR2A	chr4:7799822-7800032	A549	lung:	n/a	n/a
23	POLR2A	chr4:7799758-7800211	H1-hESC	embryonic stem cell:	n/a	n/a
24	SP1	chr4:7799915-7800395	H1-hESC	embryonic stem cell:	n/a	n/a
25	SP1	chr4:7799702-7800268	A549	lung:	n/a	n/a
26	SP1	chr4:7799784-7800345	H1-hESC	embryonic stem cell:	n/a	n/a
27	SP1	chr4:7799628-7800332	GM12878	blood:	n/a	n/a
28	SP1	chr4:7799712-7800270	GM12878	blood:	n/a	n/a
29	SP1	chr4:7799577-7800400	K562	blood:	n/a	n/a
30	SP1	chr4:7799637-7800416	A549	lung:	n/a	n/a

(count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:7799701-7799751	AG04449	skin:	fetal
2	chr4:7799701-7799751	AG04449	skin:	fetal
3	chr4:7799701-7799751	ECC-1	luminal epithelium:	n/a
4	chr4:7799701-7799751	HRCEpiC	kidney:	n/a
5	chr4:7799701-7799751	AG09309	skin:	n/a
6	chr4:7799701-7799751	HNPCEpiC	eye:	n/a
7	chr4:7799701-7799751	HCPEpiC	choroid plexus:	n/a
8	chr4:7799701-7799751	PrEC	prostate:	n/a
9	chr4:7799701-7799751	MCF-7	breast:	n/a
10	chr4:7799701-7799751	AoSMC	blood vessel:	n/a
11	chr4:7799701-7799751	BJ	skin:	n/a
12	chr4:7799701-7799751	K562	blood:	n/a
13	chr4:7799701-7799751	HCF	heart:	n/a
14	chr4:7799701-7799751	HepG2	liver:	n/a
15	chr4:7799701-7799751	NT2-D1	testis:	n/a
16	chr4:7799701-7799751	IMR90	lung:	fetal
17	chr4:7799701-7799751	LNCaP	prostate:	n/a
18	chr4:7799701-7799751	GM12891	blood:	n/a
19	chr4:7799701-7799751	T-47D	breast:	n/a
20	chr4:7799701-7799751	Caco-2	colon:	n/a
21	chr4:7799701-7799751	SKMC	muscle:	n/a
22	chr4:7799701-7799751	RPTEC	kidney:	n/a
23	chr4:7799701-7799751	SK-N-SH_RA	brain:	n/a
24	chr4:7799701-7799751	AG04450	lung:	fetal
25	chr4:7799701-7799751	H1-hESC	embryonic stem cell:	embryo
26	chr4:7799701-7799751	HEK293	kidney:	embryo
27	chr4:7799701-7799751	NB4	blood:	n/a
28	chr4:7799701-7799751	MCF10A-Er-Src	breast:	n/a
29	chr4:7799701-7799751	AG09319	gingival:	n/a
30	chr4:7799701-7799751	HRE	kidney:	n/a
31	chr4:7799701-7799751	GM19239	blood:	n/a
32	chr4:7799701-7799751	HUVEC	blood vessel:	n/a
33	chr4:7799701-7799751	HPAEpiC	pulmonary alveolar:	n/a
34	chr4:7799701-7799751	NH-A	brain:	n/a
35	chr4:7799701-7799751	ovcar-3	ovarian:	n/a
36	chr4:7799701-7799751	U87	brain:	n/a
37	chr4:7799701-7799751	HMEC	breast:	n/a
38	chr4:7799701-7799751	BE2_C	brain:	n/a
39	chr4:7799701-7799751	PANC-1	pancreas:	n/a
40	chr4:7799701-7799751	A549	lung:	n/a
41	chr4:7799701-7799751	HAEpiC	amniotic membrane:	n/a
42	chr4:7799701-7799751	ProgFib	skin:	n/a
43	chr4:7799701-7799751	GM12892	blood:	n/a
44	chr4:7799701-7799751	SK-N-SH	brain:	n/a
45	chr4:7799701-7799751	Hela-S3	cervix:	n/a
46	chr4:7799701-7799751	GM12878	blood:	n/a
47	chr4:7799701-7799751	SK-N-MC	brain:	n/a
48	chr4:7799701-7799751	NHDF-neo	bronchial:	n/a
49	chr4:7799701-7799751	HEEpiC	esophagus:	n/a
50	chr4:7799701-7799751	HL-60	blood:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:7799366..7802066-chr4:7938906..7941900,2	MCF-7	breast:

No data

Variant related genes	Relation type
AFAP1	TF binding region
AFAP1	CpG island
ENSG00000196526	chromatin interactions
ENSG00000228919	chromatin interactions

Extended variants
information (count: 60 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:60 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549657454	chr4:7799736-7799737	Strong transcription Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs377419415	chr4:7799738-7799739	Strong transcription Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs532012854	chr4:7799779-7799780	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs201878241	chr4:7799780-7799781	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs546966128	chr4:7799788-7799789	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs569702070	chr4:7799799-7799800	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs200287230	chr4:7799801-7799802	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs565661444	chr4:7799811-7799812	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs28375486	chr4:7799824-7799825	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs28569002	chr4:7799828-7799829	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs111270370	chr4:7799834-7799835	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs6813784	chr4:7799852-7799853	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs370659396	chr4:7799856-7799857	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs373954474	chr4:7799862-7799863	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs35900661	chr4:7799867-7799868	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs376070851	chr4:7799868-7799869	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs34364202	chr4:7799880-7799881	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs551096630	chr4:7799881-7799882	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs111782623	chr4:7799884-7799885	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs113637527	chr4:7799891-7799892	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs34631741	chr4:7799895-7799896	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs548375422	chr4:7799901-7799902	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs9684251	chr4:7799908-7799909	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs77369294	chr4:7799912-7799913	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs112314621	chr4:7799918-7799919	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs371141088	chr4:7799923-7799924	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs537251369	chr4:7799929-7799930	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs558827629	chr4:7799935-7799936	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs6835778	chr4:7799936-7799937	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs6837236	chr4:7799940-7799941	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs60966449	chr4:7799946-7799947	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs9683769	chr4:7799952-7799953	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs13132939	chr4:7799953-7799954	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs575217456	chr4:7799963-7799964	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs368133220	chr4:7799964-7799965	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs113922173	chr4:7799968-7799969	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs113735148	chr4:7799974-7799975	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs556381487	chr4:7799980-7799981	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs149729386	chr4:7799992-7799993	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs112954489	chr4:7800007-7800008	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs113128565	chr4:7800020-7800021	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs557627616	chr4:7800021-7800022	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs373491758	chr4:7800024-7800025	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs112576009	chr4:7800048-7800049	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs112463449	chr4:7800052-7800053	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs181865851	chr4:7800059-7800060	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs575788265	chr4:7800071-7800072	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs573122833	chr4:7800076-7800077	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs112224686	chr4:7800080-7800081	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs113124605	chr4:7800086-7800087	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:52)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Melanoma	20688739	CNVD
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21509527	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Schizophrenia	22241247	CNVD
Autosomal-dominant microtia	18179897	CNVD
Glioma	17123091	CNVD
Colorectal cancer	20459617	CNVD
Breast cancer	17133270	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7762000-7805800	Weak transcription	Stomach Mucosa	stomach
2	chr4:7770800-7828400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr4:7776400-7800000	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr4:7776400-7806800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr4:7780600-7800200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr4:7781000-7800000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr4:7781400-7800400	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr4:7781400-7801000	Weak transcription	Brain Substantia Nigra	brain
9	chr4:7781400-7801200	Weak transcription	Brain Anterior Caudate	brain
10	chr4:7781600-7807400	Weak transcription	Brain Angular Gyrus	brain
11	chr4:7783800-7806200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr4:7784000-7801800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr4:7784000-7821200	Weak transcription	Small Intestine	intestine
14	chr4:7784200-7800600	Weak transcription	Brain Hippocampus Middle	brain
15	chr4:7784200-7800600	Weak transcription	Esophagus	oesophagus
16	chr4:7784200-7802200	Weak transcription	Aorta	Aorta
17	chr4:7784200-7802800	Strong transcription	Fetal Muscle Trunk	muscle
18	chr4:7784800-7803400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr4:7785800-7803800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr4:7786000-7800800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr4:7787000-7829400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr4:7787400-7800200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr4:7789200-7806600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr4:7790800-7800800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr4:7790800-7803600	Strong transcription	HSMM	muscle
26	chr4:7791000-7801400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr4:7791000-7806600	Weak transcription	Psoas Muscle	Psoas
28	chr4:7791000-7829400	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr4:7791200-7800800	Weak transcription	Spleen	Spleen
30	chr4:7791400-7800400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr4:7791400-7806600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr4:7791600-7800000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr4:7791600-7800400	Weak transcription	Left Ventricle	heart
34	chr4:7791600-7800400	Weak transcription	Right Ventricle	heart
35	chr4:7791600-7801200	Weak transcription	Fetal Brain Male	brain
36	chr4:7792200-7803200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr4:7792600-7802800	Strong transcription	ES-I3 Cell Line	embryonic stem cell
38	chr4:7792600-7803400	Strong transcription	A549	lung
39	chr4:7792800-7803000	Strong transcription	HSMMtube	muscle
40	chr4:7793200-7803800	Strong transcription	NH-A	brain
41	chr4:7794400-7803600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr4:7794800-7803400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr4:7795600-7799800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr4:7795600-7800600	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr4:7795600-7803800	Weak transcription	Fetal Kidney	kidney
46	chr4:7795800-7803800	Weak transcription	Fetal Heart	heart
47	chr4:7796000-7800400	Weak transcription	Colon Smooth Muscle	Colon
48	chr4:7796000-7803400	Strong transcription	HUVEC	blood vessel
49	chr4:7796600-7803400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr4:7796800-7804200	Strong transcription	NHEK	skin

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