Variant report

Variant	rs57525142
Chromosome Location	chr5:95194445-95194446
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:260)
CpG islands
(count:61)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:260 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr5:95193771-95195542	SK-N-SH	brain:	n/a	n/a
2	RAD21	chr5:95194262-95194998	ECC-1	luminal epithelium:	n/a	n/a
3	CHD2	chr5:95194357-95194999	HepG2	liver:	n/a	n/a
4	CTCF	chr5:95194256-95194891	HCT-116	colon:	n/a	n/a
5	TEAD4	chr5:95194361-95195068	A549	lung:	n/a	n/a
6	FOXA2	chr5:95194407-95195044	A549	lung:	n/a	n/a
7	MAFK	chr5:95194410-95195136	IMR90	lung:	n/a	n/a
8	RAD21	chr5:95194314-95194865	ECC-1	luminal epithelium:	n/a	n/a
9	RFX5	chr5:95194411-95195197	HepG2	liver:	n/a	n/a
10	MAFK	chr5:95194355-95195494	Hela-S3	cervix:	n/a	n/a
11	EP300	chr5:95194186-95195188	A549	lung:	n/a	n/a
12	ATF2	chr5:95194397-95194893	H1-hESC	embryonic stem cell:	n/a	n/a
13	RAD21	chr5:95194154-95195175	HCT-116	colon:	n/a	n/a
14	RCOR1	chr5:95194401-95195612	Hela-S3	cervix:	n/a	n/a
15	CTCF	chr5:95194435-95194762	Gliobla	brain:	n/a	n/a
16	NRF1	chr5:95194370-95194780	GM12878	blood:	n/a	n/a
17	POLR2A	chr5:95194318-95195485	HUVEC	blood vessel:	n/a	n/a
18	CREB1	chr5:95194380-95194961	H1-hESC	embryonic stem cell:	n/a	n/a
19	RAD21	chr5:95194410-95194837	GM12878	blood:	n/a	n/a
20	FOSL2	chr5:95194378-95195093	A549	lung:	n/a	n/a
21	MAZ	chr5:95194394-95194823	GM12878	blood:	n/a	n/a
22	SP1	chr5:95194299-95195281	A549	lung:	n/a	n/a
23	USF2	chr5:95194372-95195366	Hela-S3	cervix:	n/a	n/a
24	RAD21	chr5:95194337-95194881	H1-hESC	embryonic stem cell:	n/a	n/a
25	HDAC2	chr5:95194310-95194930	HepG2	liver:	n/a	n/a
26	CTCF	chr5:95194434-95194788	GM19238	blood:	n/a	n/a
27	CTCF	chr5:95194424-95194795	GM12892	blood:	n/a	n/a
28	FOXA1	chr5:95194402-95195140	HepG2	liver:	n/a	n/a
29	GTF2F1	chr5:95194351-95195703	Hela-S3	cervix:	n/a	n/a
30	EP300	chr5:95194345-95195145	HepG2	liver:	n/a	n/a
31	MYC	chr5:95194284-95195044	Hela-S3	cervix:	n/a	n/a
32	CEBPB	chr5:95194267-95194925	HepG2	liver:	n/a	n/a
33	RAD21	chr5:95194377-95195012	GM12878	blood:	n/a	n/a
34	CREB1	chr5:95194350-95195142	H1-hESC	embryonic stem cell:	n/a	n/a
35	MAX	chr5:95194232-95194951	NB4	blood:	n/a	n/a
36	TBL1XR1	chr5:95194429-95194897	K562	blood:	n/a	n/a
37	JUND	chr5:95194406-95195160	A549	lung:	n/a	chr5:95194890-95194901
38	ZNF143	chr5:95194435-95194985	Hela-S3	cervix:	n/a	n/a
39	YY1	chr5:95194384-95194907	H1-hESC	embryonic stem cell:	n/a	n/a
40	FOS	chr5:95194434-95195311	HUVEC	blood vessel:	n/a	n/a
41	IRF4	chr5:95194380-95194952	GM12878	blood:	n/a	n/a
42	ATF2	chr5:95194350-95195033	GM12878	blood:	n/a	n/a
43	RAD21	chr5:95194336-95194962	HepG2	liver:	n/a	n/a
44	TEAD4	chr5:95194364-95194843	H1-hESC	embryonic stem cell:	n/a	n/a
45	MAX	chr5:95194307-95195059	Hela-S3	cervix:	n/a	n/a
46	YY1	chr5:95194392-95194877	GM12892	blood:	n/a	n/a
47	CTCF	chr5:95194055-95195835	A549	lung:	n/a	n/a
48	CEBPD	chr5:95194294-95194592	HepG2	liver:	n/a	n/a
49	YY1	chr5:95194441-95194804	HCT-116	colon:	n/a	n/a
50	ZNF143	chr5:95194373-95194818	GM12878	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:95194408-95194458	ECC-1	luminal epithelium:	n/a
2	chr5:95194408-95194458	A549	lung:	n/a
3	chr5:95194408-95194458	RPTEC	kidney:	n/a
4	chr5:95194408-95194458	HEEpiC	esophagus:	n/a
5	chr5:95194408-95194458	H1-hESC	embryonic stem cell:	embryo
6	chr5:95194408-95194458	HNPCEpiC	eye:	n/a
7	chr5:95194408-95194458	HUVEC	blood vessel:	n/a
8	chr5:95194408-95194458	NHDF-neo	bronchial:	n/a
9	chr5:95194408-95194458	HMEC	breast:	n/a
10	chr5:95194408-95194458	ovcar-3	ovarian:	n/a
11	chr5:95194408-95194458	BJ	skin:	n/a
12	chr5:95194408-95194458	NH-A	brain:	n/a
13	chr5:95194408-95194458	PFSK-1	brain:	n/a
14	chr5:95194408-95194458	PANC-1	pancreas:	n/a
15	chr5:95194408-95194458	AG09309	skin:	n/a
16	chr5:95194408-95194458	K562	blood:	n/a
17	chr5:95194408-95194458	AG04449	skin:	fetal
18	chr5:95194408-95194458	LNCaP	prostate:	n/a
19	chr5:95194408-95194458	MCF10A-Er-Src	breast:	n/a
20	chr5:95194408-95194458	HAEpiC	amniotic membrane:	n/a
21	chr5:95194408-95194458	U87	brain:	n/a
22	chr5:95194408-95194458	SK-N-SH	brain:	n/a
23	chr5:95194408-95194458	ProgFib	skin:	n/a
24	chr5:95194408-95194458	Hepatocyte	liver:	n/a
25	chr5:95194408-95194458	AG10803	skin:	n/a
26	chr5:95194408-95194458	HRPEpiC	eye:	n/a
27	chr5:95194408-95194458	GM19239	blood:	n/a
28	chr5:95194408-95194458	Jurkat	blood:	n/a
29	chr5:95194408-95194458	SK-N-MC	brain:	n/a
30	chr5:95194408-95194458	CMK	blood:	n/a
31	chr5:95194408-95194458	HCPEpiC	choroid plexus:	n/a
32	chr5:95194408-95194458	T-47D	breast:	n/a
33	chr5:95194408-95194458	Caco-2	colon:	n/a
34	chr5:95194408-95194458	GM12878	blood:	n/a
35	chr5:95194408-95194458	NHBE	bronchial:	n/a
36	chr5:95194408-95194458	AG04450	lung:	fetal
37	chr5:95194408-95194458	SKMC	muscle:	n/a
38	chr5:95194408-95194458	HRCEpiC	kidney:	n/a
39	chr5:95194408-95194458	HL-60	blood:	n/a
40	chr5:95194408-95194458	Hela-S3	cervix:	n/a
41	chr5:95194408-95194458	HEK293	kidney:	embryo
42	chr5:95194408-95194458	HRE	kidney:	n/a
43	chr5:95194408-95194458	IMR90	lung:	fetal
44	chr5:95194408-95194458	HIPEpiC	eye:	n/a
45	chr5:95194408-95194458	GM12892	blood:	n/a
46	chr5:95194408-95194458	NT2-D1	testis:	n/a
47	chr5:95194408-95194458	AoSMC	blood vessel:	n/a
48	chr5:95194408-95194458	BE2_C	brain:	n/a
49	chr5:95194408-95194458	MCF-7	breast:	n/a
50	chr5:95194408-95194458	HCF	heart:	n/a

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:95194159..95195132-chr5:95937235..95938162,2	MCF-7	breast:
2	chr5:95065746..95068516-chr5:95192441..95195088,2	K562	blood:
3	chr5:95194289..95194985-chr5:95673265..95673800,2	MCF-7	breast:
4	chr5:95192803..95195845-chr5:95402156..95405628,4	K562	blood:
5	chr5:95194068..95196070-chr5:95401310..95403656,2	K562	blood:
6	chr5:95193159..95197035-chr5:95199083..95201765,3	K562	blood:
7	chr5:95170114..95172338-chr5:95193145..95195226,2	MCF-7	breast:
8	chr5:95193414..95195119-chr5:95295592..95298550,2	MCF-7	breast:
9	chr5:95182879..95183392-chr5:95194256..95194971,2	K562	blood:
10	chr5:95193997..95195123-chr5:95671828..95672801,8	MCF-7	breast:
11	chr5:95194274..95195016-chr5:95296491..95297023,2	K562	blood:
12	chr5:95194147..95195090-chr5:95671681..95672723,8	K562	blood:
13	chr5:95194159..95195061-chr5:95937129..95937952,3	K562	blood:
14	chr5:95194282..95195007-chr5:95671976..95672736,3	MCF-7	breast:
15	chr5:95194227..95195153-chr5:95228091..95229270,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000250362	TF binding region
ENSG00000250362	CpG island
ENSG00000251314	Chromatin interaction
ENSG00000250240	Chromatin interaction
ENSG00000164292	Chromatin interaction
ENSG00000118985	Chromatin interaction
ENSG00000251000	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs17085193	0.81[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830409	chr5:95006686-95204496	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv1015180	chr5:95134357-95286446	Strong transcription Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv1019566	chr5:95180352-95300677	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:95179000-95206000	Weak transcription	Spleen	Spleen
2	chr5:95188400-95195600	Enhancers	Fetal Heart	heart
3	chr5:95191800-95195800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:95191800-95195800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr5:95192000-95201400	Enhancers	Placenta	Placenta
6	chr5:95192200-95194600	Enhancers	Left Ventricle	heart
7	chr5:95192200-95194600	Enhancers	Ovary	ovary
8	chr5:95192200-95194800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr5:95192200-95195000	Enhancers	Lung	lung
10	chr5:95192200-95195000	Enhancers	Right Atrium	heart
11	chr5:95192200-95195800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr5:95192200-95199400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr5:95192400-95195400	Weak transcription	Small Intestine	intestine
14	chr5:95192400-95199200	Enhancers	Placenta Amnion	Placenta Amnion
15	chr5:95192800-95194600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr5:95192800-95194600	Enhancers	HUVEC	blood vessel
17	chr5:95193000-95194600	Enhancers	Fetal Stomach	stomach
18	chr5:95193000-95195000	Enhancers	Stomach Mucosa	stomach
19	chr5:95193000-95196400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr5:95193200-95194600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr5:95193400-95194600	Enhancers	Primary neutrophils fromperipheralblood	blood
22	chr5:95193400-95194600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
23	chr5:95193400-95194600	Flanking Active TSS	Stomach Smooth Muscle	stomach
24	chr5:95193400-95194800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr5:95193400-95196000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr5:95193600-95194600	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr5:95193600-95196800	Weak transcription	Right Ventricle	heart
28	chr5:95193800-95194600	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr5:95193800-95194600	Flanking Active TSS	NH-A	brain
30	chr5:95193800-95194600	Flanking Active TSS	Osteobl	bone
31	chr5:95193800-95196400	Flanking Active TSS	Hela-S3	cervix
32	chr5:95193800-95197000	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr5:95194000-95194600	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr5:95194000-95194600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr5:95194000-95194600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr5:95194000-95194600	Enhancers	Rectal Mucosa Donor 31	rectum
37	chr5:95194000-95194800	Enhancers	Fetal Intestine Large	intestine
38	chr5:95194000-95195000	Enhancers	Primary T helper cells PMA-I stimulated	--
39	chr5:95194000-95195000	Enhancers	K562	blood
40	chr5:95194000-95195600	Flanking Active TSS	HepG2	liver
41	chr5:95194000-95200800	Weak transcription	Gastric	stomach
42	chr5:95194200-95194600	Enhancers	iPS-18 Cell Line	embryonic stem cell
43	chr5:95194200-95194600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
44	chr5:95194200-95194600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
45	chr5:95194200-95194600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr5:95194200-95194600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr5:95194200-95194600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr5:95194200-95194600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr5:95194200-95194600	Enhancers	Brain Germinal Matrix	brain
50	chr5:95194200-95194600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain

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