Variant report

Variant	rs13024612
Chromosome Location	chr2:152685426-152685427
allele	C/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	CEBPB	chr2:152684988-152685560	K562	blood:	n/a	n/a
2	TBP	chr2:152684062-152685508	H1-hESC	embryonic stem cell:	n/a	n/a
3	EP300	chr2:152684724-152685433	K562	blood:	n/a	n/a
4	POLR2A	chr2:152684025-152685467	GM18526	blood:	n/a	n/a
5	POU2F2	chr2:152684695-152685491	GM12878	blood:	n/a	chr2:152685103-152685114 chr2:152685100-152685113 chr2:152685099-152685117 chr2:152685102-152685112 chr2:152685102-152685112 chr2:152685103-152685112 chr2:152685104-152685112 chr2:152685101-152685115 chr2:152685100-152685115 chr2:152685103-152685113 chr2:152685101-152685113 chr2:152685098-152685119 chr2:152685104-152685111
6	POLR2A	chr2:152684477-152685473	HUVEC	blood vessel:	n/a	n/a
7	POLR2A	chr2:152684146-152685465	ECC-1	luminal epithelium:	n/a	n/a
8	CREB1	chr2:152684707-152685442	H1-hESC	embryonic stem cell:	n/a	chr2:152685316-152685329
9	HCFC1	chr2:152684225-152685571	K562	blood:	n/a	n/a
10	TBL1XR1	chr2:152683333-152685451	K562	blood:	n/a	n/a
11	UBTF	chr2:152684066-152685429	K562	blood:	n/a	n/a
12	TBP	chr2:152684069-152685559	K562	blood:	n/a	n/a
13	EGR1	chr2:152684398-152685462	K562	blood:	n/a	chr2:152684551-152684564 chr2:152685044-152685053
14	TBP	chr2:152684240-152685466	HepG2	liver:	n/a	n/a
15	POLR2A	chr2:152684723-152685653	GM12878	blood:	n/a	n/a
16	MAFK	chr2:152684909-152685833	Hela-S3	cervix:	n/a	chr2:152685674-152685689 chr2:152685677-152685691 chr2:152685669-152685689
17	TEAD4	chr2:152684646-152685556	HepG2	liver:	n/a	n/a
18	MEF2A	chr2:152684671-152685580	GM12878	blood:	n/a	n/a
19	EP300	chr2:152684752-152685438	HepG2	liver:	n/a	n/a
20	WRNIP1	chr2:152684795-152685586	GM12878	blood:	n/a	n/a
21	CTCF	chr2:152685340-152685490	AG10803	skin:	n/a	n/a
22	MAX	chr2:152684619-152685442	K562	blood:	n/a	chr2:152685001-152685011
23	MAFF	chr2:152685301-152685864	HepG2	liver:	n/a	chr2:152685673-152685691
24	EP300	chr2:152684971-152685552	GM12878	blood:	n/a	n/a
25	POU2F2	chr2:152684606-152685449	GM12891	blood:	n/a	chr2:152685103-152685114 chr2:152685100-152685113 chr2:152685099-152685117 chr2:152685102-152685112 chr2:152685102-152685112 chr2:152685103-152685112 chr2:152685104-152685112 chr2:152685101-152685115 chr2:152685100-152685115 chr2:152685103-152685113 chr2:152685101-152685113 chr2:152685098-152685119 chr2:152685104-152685111
26	POLR2A	chr2:152684102-152685589	GM19193	blood:	n/a	n/a
27	POLR2A	chr2:152684592-152685454	ECC-1	luminal epithelium:	n/a	n/a
28	MAFF	chr2:152685234-152685861	K562	blood:	n/a	chr2:152685673-152685691
29	POLR2A	chr2:152683970-152685852	K562	blood:	n/a	n/a
30	MYC	chr2:152684110-152685723	K562	blood:	n/a	chr2:152685001-152685011
31	PML	chr2:152684625-152685800	K562	blood:	n/a	n/a
32	POLR2A	chr2:152684073-152685769	Hela-S3	cervix:	n/a	n/a
33	ATF2	chr2:152684743-152685597	GM12878	blood:	n/a	n/a
34	FOXA2	chr2:152684918-152685471	HepG2	liver:	n/a	n/a
35	POLR2A	chr2:152684426-152685615	PFSK-1	brain:	n/a	n/a
36	POLR2A	chr2:152683257-152685614	PBDE	blood:	n/a	n/a
37	POLR2A	chr2:152684613-152685501	GM12878	blood:	n/a	n/a
38	POLR2A	chr2:152684637-152685546	NB4	blood:	n/a	n/a
39	YY1	chr2:152684509-152685556	K562	blood:	n/a	chr2:152685428-152685444
40	SMC3	chr2:152684281-152685452	Hela-S3	cervix:	n/a	n/a
41	TAF1	chr2:152684555-152685529	K562	blood:	n/a	n/a
42	POLR2A	chr2:152684624-152685510	U87	brain:	n/a	n/a
43	POLR2A	chr2:152684526-152685515	HUVEC	blood vessel:	n/a	n/a
44	HA-E2F1	chr2:152684347-152685430	MCF-7	breast:	n/a	chr2:152685077-152685091 chr2:152684535-152684545 chr2:152685001-152685010 chr2:152685044-152685053
45	MAX	chr2:152684713-152685432	H1-hESC	embryonic stem cell:	n/a	chr2:152685001-152685011
46	POLR2A	chr2:152684629-152685810	K562	blood:	n/a	n/a
47	CREB1	chr2:152684704-152685502	GM12878	blood:	n/a	chr2:152685316-152685329
48	POLR2A	chr2:152684041-152685494	GM15510	blood:	n/a	n/a
49	HEY1	chr2:152683966-152685823	K562	blood:	n/a	chr2:152685394-152685403
50	JUND	chr2:152684708-152685725	K562	blood:	n/a	chr2:152685583-152685595

No.	Distal block	Cell Line	Cell type
1	chr2:152684763..152686807-chr2:153031833..153033553,2	MCF-7	breast:
2	chr2:152657917..152660487-chr2:152685208..152686908,2	K562	blood:
3	chr2:152685053..152687897-chr2:152732170..152734670,2	K562	blood:
4	chr12:57913742..57914275-chr2:152685123..152685804,2	NB4	blood:

Variant related genes	Relation type
ARL5A	TF binding region
ENSG00000115145	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12987591	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12997859	1.00[AMR][1000 genomes]
rs41270209	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71415179	1.00[AMR][1000 genomes];1.00[EUR][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	nsv1005746	chr2:152361972-153059840	Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv535984	chr2:152361972-153059840	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	esv3693431	chr2:152683731-152981827	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:152682800-152685600	Active TSS	Right Atrium	heart
2	chr2:152683000-152685600	Active TSS	NHLF	lung
3	chr2:152683000-152685800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr2:152683200-152685600	Active TSS	Ovary	ovary
5	chr2:152683400-152685600	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr2:152683400-152685600	Active TSS	Psoas Muscle	Psoas
7	chr2:152683600-152685600	Active TSS	Breast Myoepithelial Primary Cells	Breast
8	chr2:152683600-152685600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr2:152683600-152685600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr2:152683600-152685600	Active TSS	Fetal Brain Female	brain
11	chr2:152683600-152685600	Active TSS	Right Ventricle	heart
12	chr2:152683800-152685600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
13	chr2:152683800-152685600	Active TSS	Fetal Kidney	kidney
14	chr2:152683800-152685600	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr2:152683800-152685800	Active TSS	Stomach Smooth Muscle	stomach
16	chr2:152684000-152685600	Active TSS	Pancreas	Pancrea
17	chr2:152684000-152685800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr2:152684400-152685600	Active TSS	Fetal Brain Male	brain
19	chr2:152684400-152685600	Active TSS	Fetal Muscle Trunk	muscle
20	chr2:152684800-152685600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr2:152685000-152685600	Flanking Active TSS	Primary T cells from cord blood	blood
22	chr2:152685000-152685600	Flanking Active TSS	Liver	Liver
23	chr2:152685000-152685600	Flanking Active TSS	NHEK	skin
24	chr2:152685200-152685600	Flanking Active TSS	H1 Cell Line	embryonic stem cell
25	chr2:152685200-152685600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr2:152685200-152685600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr2:152685200-152685600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
28	chr2:152685200-152685600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
29	chr2:152685200-152685600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr2:152685200-152685600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
31	chr2:152685200-152685600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
32	chr2:152685200-152685600	Flanking Active TSS	Primary B cells from peripheral blood	blood
33	chr2:152685200-152685600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
34	chr2:152685200-152685600	Flanking Active TSS	Primary hematopoietic stem cells	blood
35	chr2:152685200-152685600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
36	chr2:152685200-152685600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
37	chr2:152685200-152685600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
38	chr2:152685200-152685600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
39	chr2:152685200-152685600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
40	chr2:152685200-152685600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
41	chr2:152685200-152685600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
42	chr2:152685200-152685600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
43	chr2:152685200-152685600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr2:152685200-152685600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr2:152685200-152685600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr2:152685200-152685600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
47	chr2:152685200-152685600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
48	chr2:152685200-152685600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
49	chr2:152685200-152685600	Flanking Active TSS	Fetal Heart	heart
50	chr2:152685200-152685600	Flanking Active TSS	Fetal Intestine Small	intestine

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