Variant report

Variant	rs181809201
Chromosome Location	chr5:95296513-95296514
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:174)
CpG islands
(count:61)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:174 , 50 per page) page: 1 2 3 4

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	TBL1XR1	chr5:95296296-95296563	K562	blood:	n/a	n/a
3	SMC3	chr5:95296391-95297417	GM12878	blood:	n/a	chr5:95297064-95297074 chr5:95297060-95297074
4	MAFK	chr5:95296285-95296618	Hela-S3	cervix:	n/a	n/a
5	EBF1	chr5:95296420-95297251	GM12878	blood:	n/a	n/a
6	MYC	chr5:95296370-95298804	K562	blood:	n/a	n/a
7	MXI1	chr5:95295550-95298162	HepG2	liver:	n/a	n/a
8	RAD21	chr5:95295552-95298217	IMR90	lung:	n/a	chr5:95296846-95296859 chr5:95297062-95297075 chr5:95296847-95296861 chr5:95297059-95297078
9	MAX	chr5:95296452-95296846	K562	blood:	n/a	n/a
10	ZKSCAN1	chr5:95295855-95297313	Hela-S3	cervix:	n/a	chr5:95297097-95297110
11	POLR2A	chr5:95294827-95298308	GM12892	blood:	n/a	n/a
12	RELA	chr5:95294993-95298352	GM12891	blood:	n/a	chr5:95297005-95297014 chr5:95297005-95297014
13	POLR2A	chr5:95296365-95297919	MCF-7	breast:	n/a	n/a
14	POLR2A	chr5:95294649-95297075	HepG2	liver:	n/a	n/a
15	CHD1	chr5:95295706-95298302	GM12878	blood:	n/a	chr5:95296574-95296584
16	TEAD4	chr5:95296357-95296769	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr5:95296312-95297766	H1-neurons	neurons:	n/a	n/a
18	PML	chr5:95295247-95298289	GM12878	blood:	n/a	chr5:95296249-95296257
19	E2F4	chr5:95296295-95298203	K562	blood:	n/a	chr5:95297782-95297791 chr5:95297687-95297696 chr5:95297196-95297206 chr5:95297784-95297793 chr5:95297056-95297065
20	POLR2A	chr5:95294744-95298231	GM12891	blood:	n/a	n/a
21	NFIC	chr5:95296448-95297113	GM12878	blood:	n/a	n/a
22	TEAD4	chr5:95296386-95296767	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr5:95294626-95298807	GM12892	blood:	n/a	n/a
24	POLR2A	chr5:95294626-95298519	GM12892	blood:	n/a	n/a
25	CCNT2	chr5:95296387-95298017	K562	blood:	n/a	chr5:95297897-95297906 chr5:95296574-95296583
26	POLR2A	chr5:95295651-95298283	GM18951	blood:	n/a	n/a
27	USF2	chr5:95296098-95296554	H1-hESC	embryonic stem cell:	n/a	n/a
28	ELF1	chr5:95296188-95298180	GM12878	blood:	n/a	chr5:95297194-95297206
29	MAX	chr5:95296427-95297264	A549	lung:	n/a	n/a
30	POLR2A	chr5:95293827-95297878	ProgFib	skin:	n/a	n/a
31	POLR2A	chr5:95294579-95298340	GM12878	blood:	n/a	n/a
32	POLR2A	chr5:95293418-95298067	Hela-S3	cervix:	n/a	n/a
33	SMC3	chr5:95295595-95297958	Hela-S3	cervix:	n/a	chr5:95297064-95297074 chr5:95297060-95297074
34	POLR2A	chr5:95296318-95296786	H1-hESC	embryonic stem cell:	n/a	n/a
35	POLR2A	chr5:95296492-95296520	Hela-S3	cervix:	n/a	n/a
36	POLR2A	chr5:95293281-95298477	GM12891	blood:	n/a	n/a
37	POLR2A	chr5:95295376-95298425	GM15510	blood:	n/a	n/a
38	POLR2A	chr5:95296378-95297622	H1-hESC	embryonic stem cell:	n/a	n/a
39	CREB1	chr5:95296354-95298835	HepG2	liver:	n/a	chr5:95297781-95297794
40	REST	chr5:95296176-95297772	H1-neurons	neurons:	n/a	chr5:95297026-95297039 chr5:95297107-95297120 chr5:95297650-95297670 chr5:95297203-95297213
41	RELA	chr5:95296361-95298326	GM12892	blood:	n/a	chr5:95297005-95297014 chr5:95297005-95297014
42	CTCF	chr5:95296500-95296650	GM12867	blood:	n/a	n/a
43	POLR2A	chr5:95293681-95298523	MCF10A-Er-Src	breast:	n/a	n/a
44	ZBTB7A	chr5:95296473-95296844	K562	blood:	n/a	n/a
45	POLR2A	chr5:95294788-95297231	A549	lung:	n/a	n/a
46	SIN3AK20	chr5:95296458-95296635	HepG2	liver:	n/a	n/a
47	CREB1	chr5:95296361-95298277	A549	lung:	n/a	chr5:95297781-95297794
48	CTCF	chr5:95296467-95296808	MCF-7	breast:	n/a	n/a
49	MAX	chr5:95296394-95297312	H1-hESC	embryonic stem cell:	n/a	n/a
50	POLR2A	chr5:95295938-95297669	GM12878	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:95296502-95296552	BJ	skin:	n/a
2	chr5:95296502-95296552	ECC-1	luminal epithelium:	n/a
3	chr5:95296502-95296552	MCF10A-Er-Src	breast:	n/a
4	chr5:95296502-95296552	T-47D	breast:	n/a
5	chr5:95296502-95296552	GM12892	blood:	n/a
6	chr5:95296502-95296552	GM06990	blood:	n/a
7	chr5:95296502-95296552	GM19239	blood:	n/a
8	chr5:95296502-95296552	HL-60	blood:	n/a
9	chr5:95296502-95296552	RPTEC	kidney:	n/a
10	chr5:95296502-95296552	SKMC	muscle:	n/a
11	chr5:95296502-95296552	A549	lung:	n/a
12	chr5:95296502-95296552	HMEC	breast:	n/a
13	chr5:95296502-95296552	H1-hESC	embryonic stem cell:	embryo
14	chr5:95296502-95296552	LNCaP	prostate:	n/a
15	chr5:95296502-95296552	HCF	heart:	n/a
16	chr5:95296502-95296552	AG10803	skin:	n/a
17	chr5:95296502-95296552	HUVEC	blood vessel:	n/a
18	chr5:95296502-95296552	HNPCEpiC	eye:	n/a
19	chr5:95296502-95296552	HRE	kidney:	n/a
20	chr5:95296502-95296552	HCPEpiC	choroid plexus:	n/a
21	chr5:95296502-95296552	HIPEpiC	eye:	n/a
22	chr5:95296502-95296552	NB4	blood:	n/a
23	chr5:95296502-95296552	SK-N-SH	brain:	n/a
24	chr5:95296502-95296552	PrEC	prostate:	n/a
25	chr5:95296502-95296552	AG04450	lung:	fetal
26	chr5:95296502-95296552	ProgFib	skin:	n/a
27	chr5:95296502-95296552	CMK	blood:	n/a
28	chr5:95296502-95296552	U87	brain:	n/a
29	chr5:95296502-95296552	PFSK-1	brain:	n/a
30	chr5:95296502-95296552	HPAEpiC	pulmonary alveolar:	n/a
31	chr5:95296502-95296552	HepG2	liver:	n/a
32	chr5:95296502-95296552	HRCEpiC	kidney:	n/a
33	chr5:95296502-95296552	NHDF-neo	bronchial:	n/a
34	chr5:95296502-95296552	SAEC	small airway:	n/a
35	chr5:95296502-95296552	HAEpiC	amniotic membrane:	n/a
36	chr5:95296502-95296552	HCT-116	colon:	n/a
37	chr5:95296502-95296552	GM12891	blood:	n/a
38	chr5:95296502-95296552	PANC-1	pancreas:	n/a
39	chr5:95296502-95296552	AG09309	skin:	n/a
40	chr5:95296502-95296552	SK-N-SH_RA	brain:	n/a
41	chr5:95296502-95296552	NH-A	brain:	n/a
42	chr5:95296502-95296552	HEK293	kidney:	embryo
43	chr5:95296502-95296552	SK-N-MC	brain:	n/a
44	chr5:95296502-95296552	HCM	heart:	n/a
45	chr5:95296502-95296552	Jurkat	blood:	n/a
46	chr5:95296502-95296552	HRPEpiC	eye:	n/a
47	chr5:95296502-95296552	ovcar-3	ovarian:	n/a
48	chr5:95296502-95296552	NT2-D1	testis:	n/a
49	chr5:95296502-95296552	K562	blood:	n/a
50	chr5:95296502-95296552	AoSMC	blood vessel:	n/a

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:95194274..95195016-chr5:95296491..95297023,2	K562	blood:
2	chr5:95294090..95296695-chr5:95356956..95358736,2	K562	blood:
3	chr5:94979878..94983810-chr5:95295717..95298674,4	K562	blood:
4	chr5:95296142..95297757-chr5:95548308..95551059,2	MCF-7	breast:
5	chr1:154155210..154155901-chr5:95296371..95296884,2	Hela-S3	cervix:
6	chr5:95268201..95271259-chr5:95293634..95296677,4	K562	blood:
7	chr5:95228224..95229078-chr5:95296351..95297478,5	MCF-7	breast:
8	chr5:95294835..95302887-chr5:95306601..95313873,11	K562	blood:
9	chr5:95295795..95298001-chr5:95305862..95309802,3	MCF-7	breast:
10	chr5:95284805..95286720-chr5:95295035..95296550,2	MCF-7	breast:
11	chr5:95195786..95198605-chr5:95296132..95297926,2	MCF-7	breast:
12	chr5:94981287..94984175-chr5:95296229..95298674,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000251314	TF binding region
ENSG00000251314	CpG island
ENSG00000250362	Chromatin interaction
ENSG00000175449	Chromatin interaction
ENSG00000213716	Chromatin interaction
ENSG00000249746	Chromatin interaction
ENSG00000143549	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	chr5:95290600-95296800	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
2	chr5:95293000-95296600	Transcr. at gene 5' and 3'	NHEK	skin
3	chr5:95293800-95296600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr5:95293800-95296800	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr5:95293800-95296800	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
6	chr5:95293800-95297800	Active TSS	Rectal Mucosa Donor 29	rectum
7	chr5:95294000-95297400	Bivalent/Poised TSS	HepG2	liver
8	chr5:95294000-95298000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
9	chr5:95294000-95298000	Active TSS	Rectal Smooth Muscle	rectum
10	chr5:95294400-95297800	Active TSS	HSMMtube	muscle
11	chr5:95294400-95298600	Active TSS	Aorta	Aorta
12	chr5:95294600-95298000	Active TSS	Brain Angular Gyrus	brain
13	chr5:95294600-95298200	Active TSS	Fetal Intestine Large	intestine
14	chr5:95294600-95298200	Active TSS	GM12878-XiMat	blood
15	chr5:95294600-95298400	Active TSS	Brain Substantia Nigra	brain
16	chr5:95294800-95296600	Flanking Active TSS	Fetal Thymus	thymus
17	chr5:95294800-95297000	Transcr. at gene 5' and 3'	Pancreatic Islets	Pancreatic Islet
18	chr5:95294800-95297000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
19	chr5:95295000-95298000	Active TSS	Gastric	stomach
20	chr5:95295000-95298400	Active TSS	Colonic Mucosa	Colon
21	chr5:95295000-95298600	Active TSS	Brain Hippocampus Middle	brain
22	chr5:95295200-95298200	Active TSS	Small Intestine	intestine
23	chr5:95295400-95296600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr5:95295400-95297000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
25	chr5:95295400-95298200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr5:95295400-95298200	Active TSS	Breast Myoepithelial Primary Cells	Breast
27	chr5:95295400-95298200	Active TSS	Brain Anterior Caudate	brain
28	chr5:95295400-95298400	Active TSS	Pancreas	Pancrea
29	chr5:95295400-95298600	Active TSS	Right Ventricle	heart
30	chr5:95295600-95296600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
31	chr5:95295600-95296800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr5:95295600-95297200	Flanking Active TSS	Primary hematopoietic stem cells	blood
33	chr5:95295600-95297800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr5:95295600-95297800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
35	chr5:95295600-95297800	Active TSS	Hela-S3	cervix
36	chr5:95295600-95298000	Active TSS	Liver	Liver
37	chr5:95295600-95298000	Active TSS	Fetal Heart	heart
38	chr5:95295600-95298200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr5:95295600-95298200	Active TSS	Lung	lung
40	chr5:95295600-95298200	Active TSS	Sigmoid Colon	Sigmoid Colon
41	chr5:95295600-95298200	Active TSS	NHDF-Ad	bronchial
42	chr5:95295600-95298400	Active TSS	Left Ventricle	heart
43	chr5:95295600-95298400	Active TSS	Right Atrium	heart
44	chr5:95295600-95298600	Active TSS	Brain Cingulate Gyrus	brain
45	chr5:95295600-95298800	Active TSS	Brain Inferior Temporal Lobe	brain
46	chr5:95295800-95296600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
47	chr5:95295800-95296600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
48	chr5:95295800-95296600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
49	chr5:95295800-95296800	Flanking Active TSS	Primary B cells from peripheral blood	blood
50	chr5:95295800-95297000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain

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