Variant report

Variant	rs184839187
Chromosome Location	chr5:95296846-95296847
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	SMC3	chr5:95296391-95297417	GM12878	blood:	n/a	chr5:95297064-95297074 chr5:95297060-95297074
4	SP1	chr5:95296838-95297291	GM12878	blood:	n/a	n/a
5	ZNF143	chr5:95296531-95297395	H1-hESC	embryonic stem cell:	n/a	chr5:95297191-95297201
6	EBF1	chr5:95296420-95297251	GM12878	blood:	n/a	n/a
7	MYC	chr5:95296370-95298804	K562	blood:	n/a	n/a
8	MXI1	chr5:95295550-95298162	HepG2	liver:	n/a	n/a
9	RAD21	chr5:95295552-95298217	IMR90	lung:	n/a	chr5:95296846-95296859 chr5:95297062-95297075 chr5:95296847-95296861 chr5:95297059-95297078
10	MAX	chr5:95296452-95296846	K562	blood:	n/a	n/a
11	ZKSCAN1	chr5:95295855-95297313	Hela-S3	cervix:	n/a	chr5:95297097-95297110
12	POU2F2	chr5:95296558-95297182	GM12891	blood:	n/a	n/a
13	POLR2A	chr5:95294827-95298308	GM12892	blood:	n/a	n/a
14	BCLAF1	chr5:95296674-95297504	GM12878	blood:	n/a	chr5:95296934-95296943 chr5:95297013-95297026 chr5:95297155-95297168 chr5:95297201-95297214
15	RELA	chr5:95294993-95298352	GM12891	blood:	n/a	chr5:95297005-95297014 chr5:95297005-95297014
16	POLR2A	chr5:95296365-95297919	MCF-7	breast:	n/a	n/a
17	POLR2A	chr5:95294649-95297075	HepG2	liver:	n/a	n/a
18	CHD1	chr5:95295706-95298302	GM12878	blood:	n/a	chr5:95296574-95296584
19	POLR2A	chr5:95296312-95297766	H1-neurons	neurons:	n/a	n/a
20	PML	chr5:95295247-95298289	GM12878	blood:	n/a	chr5:95296249-95296257
21	BACH1	chr5:95296762-95297235	H1-hESC	embryonic stem cell:	n/a	n/a
22	CTCF	chr5:95296740-95296890	AG04449	skin:	n/a	n/a
23	E2F4	chr5:95296295-95298203	K562	blood:	n/a	chr5:95297782-95297791 chr5:95297687-95297696 chr5:95297196-95297206 chr5:95297784-95297793 chr5:95297056-95297065
24	POLR2A	chr5:95294744-95298231	GM12891	blood:	n/a	n/a
25	CTCF	chr5:95296840-95297381	K562	blood:	n/a	chr5:95297058-95297076 chr5:95297061-95297070 chr5:95297061-95297074
26	CTCF	chr5:95296815-95297368	IMR90	lung:	n/a	chr5:95297058-95297076 chr5:95297061-95297070 chr5:95297061-95297074
27	NFIC	chr5:95296448-95297113	GM12878	blood:	n/a	n/a
28	POLR2A	chr5:95294626-95298807	GM12892	blood:	n/a	n/a
29	POLR2A	chr5:95296592-95298135	HepG2	liver:	n/a	n/a
30	POLR2A	chr5:95294626-95298519	GM12892	blood:	n/a	n/a
31	CCNT2	chr5:95296387-95298017	K562	blood:	n/a	chr5:95297897-95297906 chr5:95296574-95296583
32	POLR2A	chr5:95295651-95298283	GM18951	blood:	n/a	n/a
33	POLR2A	chr5:95296705-95296881	HepG2	liver:	n/a	n/a
34	ELF1	chr5:95296188-95298180	GM12878	blood:	n/a	chr5:95297194-95297206
35	MAX	chr5:95296427-95297264	A549	lung:	n/a	n/a
36	MAFK	chr5:95296764-95296889	K562	blood:	n/a	n/a
37	YY1	chr5:95296725-95297598	GM12891	blood:	n/a	chr5:95297190-95297204 chr5:95297056-95297065 chr5:95297199-95297213 chr5:95297054-95297068 chr5:95297018-95297029
38	POLR2A	chr5:95296810-95298306	K562	blood:	n/a	n/a
39	POLR2A	chr5:95296577-95296854	SK-N-SH	brain:	n/a	n/a
40	ZNF143	chr5:95296755-95297246	K562	blood:	n/a	chr5:95297191-95297201
41	POLR2A	chr5:95293827-95297878	ProgFib	skin:	n/a	n/a
42	POLR2A	chr5:95294579-95298340	GM12878	blood:	n/a	n/a
43	POLR2A	chr5:95293418-95298067	Hela-S3	cervix:	n/a	n/a
44	SMC3	chr5:95296629-95297233	HepG2	liver:	n/a	chr5:95297064-95297074 chr5:95297060-95297074
45	SMC3	chr5:95295595-95297958	Hela-S3	cervix:	n/a	chr5:95297064-95297074 chr5:95297060-95297074
46	EBF1	chr5:95296637-95297598	GM12878	blood:	n/a	n/a
47	POU2F2	chr5:95296548-95298187	GM12878	blood:	n/a	chr5:95298029-95298041
48	CREB1	chr5:95296841-95297415	K562	blood:	n/a	n/a
49	TAF1	chr5:95296802-95297216	SK-N-SH	brain:	n/a	n/a
50	POLR2A	chr5:95293281-95298477	GM12891	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:8339196..8339942-chr5:95296569..95297482,2	Hela-S3	cervix:
2	chr5:95194274..95195016-chr5:95296491..95297023,2	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	chr5:95296736..95297237-chr5:96143183..96143683,2	Hela-S3	cervix:
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	chr5:95296785..95297386-chr5:95671362..95672780,3	MCF-7	breast:
11	chr5:95195786..95198605-chr5:95296132..95297926,2	MCF-7	breast:
12	chr5:95286112..95286806-chr5:95296552..95297435,2	K562	blood:
13	chr5:94981287..94984175-chr5:95296229..95298674,3	K562	blood:

Variant related genes	Relation type
ENSG00000251314	TF binding region
ENSG00000250362	Chromatin interaction
ENSG00000175449	Chromatin interaction
ENSG00000164307	Chromatin interaction
ENSG00000166579	Chromatin interaction
ENSG00000143549	Chromatin interaction
ENSG00000213716	Chromatin interaction
ENSG00000249746	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	chr5:95294800-95297000	Transcr. at gene 5' and 3'	Pancreatic Islets	Pancreatic Islet
12	chr5:95294800-95297000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
13	chr5:95295000-95298000	Active TSS	Gastric	stomach
14	chr5:95295000-95298400	Active TSS	Colonic Mucosa	Colon
15	chr5:95295000-95298600	Active TSS	Brain Hippocampus Middle	brain
16	chr5:95295200-95298200	Active TSS	Small Intestine	intestine
17	chr5:95295400-95297000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
18	chr5:95295400-95298200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr5:95295400-95298200	Active TSS	Breast Myoepithelial Primary Cells	Breast
20	chr5:95295400-95298200	Active TSS	Brain Anterior Caudate	brain
21	chr5:95295400-95298400	Active TSS	Pancreas	Pancrea
22	chr5:95295400-95298600	Active TSS	Right Ventricle	heart
23	chr5:95295600-95297200	Flanking Active TSS	Primary hematopoietic stem cells	blood
24	chr5:95295600-95297800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr5:95295600-95297800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
26	chr5:95295600-95297800	Active TSS	Hela-S3	cervix
27	chr5:95295600-95298000	Active TSS	Liver	Liver
28	chr5:95295600-95298000	Active TSS	Fetal Heart	heart
29	chr5:95295600-95298200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr5:95295600-95298200	Active TSS	Lung	lung
31	chr5:95295600-95298200	Active TSS	Sigmoid Colon	Sigmoid Colon
32	chr5:95295600-95298200	Active TSS	NHDF-Ad	bronchial
33	chr5:95295600-95298400	Active TSS	Left Ventricle	heart
34	chr5:95295600-95298400	Active TSS	Right Atrium	heart
35	chr5:95295600-95298600	Active TSS	Brain Cingulate Gyrus	brain
36	chr5:95295600-95298800	Active TSS	Brain Inferior Temporal Lobe	brain
37	chr5:95295800-95297000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr5:95295800-95297000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
39	chr5:95295800-95297000	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
40	chr5:95295800-95298000	Active TSS	A549	lung
41	chr5:95295800-95298200	Active TSS	Colon Smooth Muscle	Colon
42	chr5:95295800-95298200	Active TSS	Esophagus	oesophagus
43	chr5:95295800-95298200	Active TSS	Psoas Muscle	Psoas
44	chr5:95295800-95298400	Active TSS	Ovary	ovary
45	chr5:95295800-95298400	Active TSS	Osteobl	bone
46	chr5:95295800-95298600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr5:95295800-95298600	Active TSS	Duodenum Smooth Muscle	Duodenum
48	chr5:95296000-95297000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
49	chr5:95296000-95297000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
50	chr5:95296000-95297000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood

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