Variant report

Variant	rs375992026
Chromosome Location	chr5:95297252-95297253
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:95296438-95297366	H1-neurons	neurons:	n/a	n/a
2	ATF3	chr5:95296814-95297265	A549	lung:	n/a	chr5:95297211-95297220
3	ZEB1	chr5:95296910-95297558	GM12878	blood:	n/a	n/a
4	SMC3	chr5:95296391-95297417	GM12878	blood:	n/a	chr5:95297064-95297074 chr5:95297060-95297074
5	SP1	chr5:95296838-95297291	GM12878	blood:	n/a	n/a
6	ZNF143	chr5:95296531-95297395	H1-hESC	embryonic stem cell:	n/a	chr5:95297191-95297201
7	MYC	chr5:95296370-95298804	K562	blood:	n/a	n/a
8	MXI1	chr5:95295550-95298162	HepG2	liver:	n/a	n/a
9	POLR2A	chr5:95297169-95297701	U87	brain:	n/a	n/a
10	RAD21	chr5:95295552-95298217	IMR90	lung:	n/a	chr5:95296846-95296859 chr5:95297062-95297075 chr5:95296847-95296861 chr5:95297059-95297078
11	ZKSCAN1	chr5:95295855-95297313	Hela-S3	cervix:	n/a	chr5:95297097-95297110
12	POLR2A	chr5:95294827-95298308	GM12892	blood:	n/a	n/a
13	BCLAF1	chr5:95296674-95297504	GM12878	blood:	n/a	chr5:95296934-95296943 chr5:95297013-95297026 chr5:95297155-95297168 chr5:95297201-95297214
14	RELA	chr5:95294993-95298352	GM12891	blood:	n/a	chr5:95297005-95297014 chr5:95297005-95297014
15	POLR2A	chr5:95296365-95297919	MCF-7	breast:	n/a	n/a
16	TBP	chr5:95297235-95298284	GM12878	blood:	n/a	n/a
17	CHD1	chr5:95295706-95298302	GM12878	blood:	n/a	chr5:95296574-95296584
18	HEY1	chr5:95296916-95297648	K562	blood:	n/a	chr5:95297191-95297206 chr5:95297200-95297215 chr5:95297015-95297030
19	TAF1	chr5:95296878-95298250	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr5:95297206-95297766	PFSK-1	brain:	n/a	n/a
21	REST	chr5:95296902-95297336	K562	blood:	n/a	chr5:95297026-95297039 chr5:95297107-95297120 chr5:95297203-95297213
22	POLR2A	chr5:95296312-95297766	H1-neurons	neurons:	n/a	n/a
23	PML	chr5:95295247-95298289	GM12878	blood:	n/a	chr5:95296249-95296257
24	POLR2A	chr5:95297180-95297679	HepG2	liver:	n/a	n/a
25	E2F4	chr5:95296295-95298203	K562	blood:	n/a	chr5:95297782-95297791 chr5:95297687-95297696 chr5:95297196-95297206 chr5:95297784-95297793 chr5:95297056-95297065
26	POLR2A	chr5:95294744-95298231	GM12891	blood:	n/a	n/a
27	ELF1	chr5:95296880-95297307	K562	blood:	n/a	chr5:95297194-95297206
28	CTCF	chr5:95296840-95297381	K562	blood:	n/a	chr5:95297058-95297076 chr5:95297061-95297070 chr5:95297061-95297074
29	CTCF	chr5:95296815-95297368	IMR90	lung:	n/a	chr5:95297058-95297076 chr5:95297061-95297070 chr5:95297061-95297074
30	YY1	chr5:95296880-95297746	H1-hESC	embryonic stem cell:	n/a	chr5:95297190-95297204 chr5:95297056-95297065 chr5:95297199-95297213 chr5:95297054-95297068 chr5:95297018-95297029
31	POLR2A	chr5:95294626-95298807	GM12892	blood:	n/a	n/a
32	POLR2A	chr5:95296592-95298135	HepG2	liver:	n/a	n/a
33	POLR2A	chr5:95294626-95298519	GM12892	blood:	n/a	n/a
34	CCNT2	chr5:95296387-95298017	K562	blood:	n/a	chr5:95297897-95297906 chr5:95296574-95296583
35	POLR2A	chr5:95295651-95298283	GM18951	blood:	n/a	n/a
36	ELF1	chr5:95296188-95298180	GM12878	blood:	n/a	chr5:95297194-95297206
37	MAX	chr5:95296427-95297264	A549	lung:	n/a	n/a
38	YY1	chr5:95296725-95297598	GM12891	blood:	n/a	chr5:95297190-95297204 chr5:95297056-95297065 chr5:95297199-95297213 chr5:95297054-95297068 chr5:95297018-95297029
39	FOXP2	chr5:95296895-95298168	PFSK-1	brain:	n/a	n/a
40	POLR2A	chr5:95296810-95298306	K562	blood:	n/a	n/a
41	POLR2A	chr5:95297139-95297876	U87	brain:	n/a	n/a
42	TBL1XR1	chr5:95296988-95297333	K562	blood:	n/a	n/a
43	YY1	chr5:95297165-95297603	SK-N-SH	brain:	n/a	chr5:95297190-95297204 chr5:95297199-95297213
44	POLR2A	chr5:95296853-95298273	K562	blood:	n/a	n/a
45	POLR2A	chr5:95293827-95297878	ProgFib	skin:	n/a	n/a
46	CTCF	chr5:95296915-95297562	K562	blood:	n/a	chr5:95297058-95297076 chr5:95297061-95297070 chr5:95297061-95297074
47	POLR2A	chr5:95294579-95298340	GM12878	blood:	n/a	n/a
48	CREB1	chr5:95296849-95298784	K562	blood:	n/a	chr5:95297781-95297794
49	TAF1	chr5:95297228-95297884	SK-N-SH	brain:	n/a	n/a
50	POLR2A	chr5:95293418-95298067	Hela-S3	cervix:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:95297236-95297286	CMK	blood:	n/a
2	chr5:95297236-95297286	HEK293	kidney:	embryo
3	chr5:95297236-95297286	HMEC	breast:	n/a
4	chr5:95297236-95297286	HCPEpiC	choroid plexus:	n/a
5	chr5:95297236-95297286	HL-60	blood:	n/a
6	chr5:95297236-95297286	HCM	heart:	n/a
7	chr5:95297236-95297286	NB4	blood:	n/a
8	chr5:95297236-95297286	HepG2	liver:	n/a
9	chr5:95297236-95297286	SK-N-SH	brain:	n/a
10	chr5:95297236-95297286	ovcar-3	ovarian:	n/a
11	chr5:95297236-95297286	HEEpiC	esophagus:	n/a
12	chr5:95297236-95297286	HUVEC	blood vessel:	n/a
13	chr5:95297236-95297286	AG09319	gingival:	n/a
14	chr5:95297236-95297286	SK-N-SH_RA	brain:	n/a
15	chr5:95297236-95297286	MCF-7	breast:	n/a
16	chr5:95297236-95297286	GM12878	blood:	n/a
17	chr5:95297236-95297286	BJ	skin:	n/a
18	chr5:95297236-95297286	LNCaP	prostate:	n/a
19	chr5:95297236-95297286	NT2-D1	testis:	n/a
20	chr5:95297236-95297286	PANC-1	pancreas:	n/a
21	chr5:95297236-95297286	HRE	kidney:	n/a
22	chr5:95297236-95297286	SK-N-MC	brain:	n/a
23	chr5:95297236-95297286	Jurkat	blood:	n/a
24	chr5:95297236-95297286	ProgFib	skin:	n/a
25	chr5:95297236-95297286	U87	brain:	n/a
26	chr5:95297236-95297286	H1-hESC	embryonic stem cell:	embryo
27	chr5:95297236-95297286	HIPEpiC	eye:	n/a
28	chr5:95297236-95297286	HNPCEpiC	eye:	n/a
29	chr5:95297236-95297286	K562	blood:	n/a
30	chr5:95297236-95297286	AG04449	skin:	fetal
31	chr5:95297236-95297286	T-47D	breast:	n/a
32	chr5:95297236-95297286	Hepatocyte	liver:	n/a
33	chr5:95297236-95297286	GM06990	blood:	n/a
34	chr5:95297236-95297286	HCF	heart:	n/a
35	chr5:95297236-95297286	AG04450	lung:	fetal
36	chr5:95297236-95297286	HCT-116	colon:	n/a
37	chr5:95297236-95297286	PrEC	prostate:	n/a
38	chr5:95297236-95297286	IMR90	lung:	fetal
39	chr5:95297236-95297286	GM12891	blood:	n/a
40	chr5:95297236-95297286	PFSK-1	brain:	n/a
41	chr5:95297236-95297286	HPAEpiC	pulmonary alveolar:	n/a
42	chr5:95297236-95297286	AG09309	skin:	n/a
43	chr5:95297236-95297286	NHBE	bronchial:	n/a
44	chr5:95297236-95297286	BE2_C	brain:	n/a
45	chr5:95297236-95297286	A549	lung:	n/a
46	chr5:95297236-95297286	NH-A	brain:	n/a
47	chr5:95297236-95297286	AG10803	skin:	n/a
48	chr5:95297236-95297286	SKMC	muscle:	n/a
49	chr5:95297236-95297286	MCF10A-Er-Src	breast:	n/a
50	chr5:95297236-95297286	GM19239	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:8339196..8339942-chr5:95296569..95297482,2	Hela-S3	cervix:
2	chr15:65588296..65588838-chr5:95297026..95297696,2	Hela-S3	cervix:
3	chr5:94979878..94983810-chr5:95295717..95298674,4	K562	blood:
4	chr5:95296142..95297757-chr5:95548308..95551059,2	MCF-7	breast:
5	chr15:65321247..65322203-chr5:95297173..95297723,2	NB4	blood:
6	chr5:95228224..95229078-chr5:95296351..95297478,5	MCF-7	breast:
7	chr5:95294835..95302887-chr5:95306601..95313873,11	K562	blood:
8	chr5:95295795..95298001-chr5:95305862..95309802,3	MCF-7	breast:
9	chr5:95296785..95297386-chr5:95671362..95672780,3	MCF-7	breast:
10	chr5:95195786..95198605-chr5:95296132..95297926,2	MCF-7	breast:
11	chr5:95286112..95286806-chr5:95296552..95297435,2	K562	blood:
12	chr5:94981287..94984175-chr5:95296229..95298674,3	K562	blood:

Variant related genes	Relation type
ENSG00000251314	TF binding region
ENSG00000251314	CpG island
ENSG00000250362	Chromatin interaction
ENSG00000249746	Chromatin interaction
ENSG00000213716	Chromatin interaction
ENSG00000103707	Chromatin interaction
ENSG00000199568	Chromatin interaction
ENSG00000166579	Chromatin interaction
ENSG00000175449	Chromatin interaction

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

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	esv2758003	chr5:95231706-95540433	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
3	esv2759355	chr5:95231706-95540433	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
4	esv3388808	chr5:95296221-95299069	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:95293800-95297800	Active TSS	Rectal Mucosa Donor 29	rectum
2	chr5:95294000-95297400	Bivalent/Poised TSS	HepG2	liver
3	chr5:95294000-95298000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
4	chr5:95294000-95298000	Active TSS	Rectal Smooth Muscle	rectum
5	chr5:95294400-95297800	Active TSS	HSMMtube	muscle
6	chr5:95294400-95298600	Active TSS	Aorta	Aorta
7	chr5:95294600-95298000	Active TSS	Brain Angular Gyrus	brain
8	chr5:95294600-95298200	Active TSS	Fetal Intestine Large	intestine
9	chr5:95294600-95298200	Active TSS	GM12878-XiMat	blood
10	chr5:95294600-95298400	Active TSS	Brain Substantia Nigra	brain
11	chr5:95295000-95298000	Active TSS	Gastric	stomach
12	chr5:95295000-95298400	Active TSS	Colonic Mucosa	Colon
13	chr5:95295000-95298600	Active TSS	Brain Hippocampus Middle	brain
14	chr5:95295200-95298200	Active TSS	Small Intestine	intestine
15	chr5:95295400-95298200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr5:95295400-95298200	Active TSS	Breast Myoepithelial Primary Cells	Breast
17	chr5:95295400-95298200	Active TSS	Brain Anterior Caudate	brain
18	chr5:95295400-95298400	Active TSS	Pancreas	Pancrea
19	chr5:95295400-95298600	Active TSS	Right Ventricle	heart
20	chr5:95295600-95297800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr5:95295600-95297800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
22	chr5:95295600-95297800	Active TSS	Hela-S3	cervix
23	chr5:95295600-95298000	Active TSS	Liver	Liver
24	chr5:95295600-95298000	Active TSS	Fetal Heart	heart
25	chr5:95295600-95298200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr5:95295600-95298200	Active TSS	Lung	lung
27	chr5:95295600-95298200	Active TSS	Sigmoid Colon	Sigmoid Colon
28	chr5:95295600-95298200	Active TSS	NHDF-Ad	bronchial
29	chr5:95295600-95298400	Active TSS	Left Ventricle	heart
30	chr5:95295600-95298400	Active TSS	Right Atrium	heart
31	chr5:95295600-95298600	Active TSS	Brain Cingulate Gyrus	brain
32	chr5:95295600-95298800	Active TSS	Brain Inferior Temporal Lobe	brain
33	chr5:95295800-95298000	Active TSS	A549	lung
34	chr5:95295800-95298200	Active TSS	Colon Smooth Muscle	Colon
35	chr5:95295800-95298200	Active TSS	Esophagus	oesophagus
36	chr5:95295800-95298200	Active TSS	Psoas Muscle	Psoas
37	chr5:95295800-95298400	Active TSS	Ovary	ovary
38	chr5:95295800-95298400	Active TSS	Osteobl	bone
39	chr5:95295800-95298600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr5:95295800-95298600	Active TSS	Duodenum Smooth Muscle	Duodenum
41	chr5:95296000-95297400	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr5:95296000-95297400	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr5:95296000-95297400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
44	chr5:95296000-95297400	Flanking Bivalent TSS/Enh	Thymus	Thymus
45	chr5:95296000-95297800	Active TSS	NH-A	brain
46	chr5:95296000-95298200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr5:95296000-95298200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr5:95296000-95298200	Active TSS	Stomach Mucosa	stomach
49	chr5:95296000-95298200	Active TSS	HSMM	muscle
50	chr5:95296200-95297800	Active TSS	Placenta	Placenta

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