Variant report

Variant	rs12693126
Chromosome Location	chr2:152685691-152685692
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	MAFK	chr2:152684909-152685833	Hela-S3	cervix:	n/a	chr2:152685674-152685689 chr2:152685677-152685691 chr2:152685669-152685689
2	MAFF	chr2:152685301-152685864	HepG2	liver:	n/a	chr2:152685673-152685691
3	MAFF	chr2:152685234-152685861	K562	blood:	n/a	chr2:152685673-152685691
4	POLR2A	chr2:152683970-152685852	K562	blood:	n/a	n/a
5	MYC	chr2:152684110-152685723	K562	blood:	n/a	chr2:152685001-152685011
6	PML	chr2:152684625-152685800	K562	blood:	n/a	n/a
7	POLR2A	chr2:152684073-152685769	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr2:152684629-152685810	K562	blood:	n/a	n/a
9	HEY1	chr2:152683966-152685823	K562	blood:	n/a	chr2:152685394-152685403
10	JUND	chr2:152684708-152685725	K562	blood:	n/a	chr2:152685583-152685595
11	POLR2A	chr2:152682879-152685762	GM12891	blood:	n/a	n/a
12	TRIM28	chr2:152684217-152685733	K562	blood:	n/a	n/a
13	NR2F2	chr2:152684763-152685768	K562	blood:	n/a	n/a
14	POLR2A	chr2:152683568-152685724	K562	blood:	n/a	n/a
15	TAL1	chr2:152684718-152685721	K562	blood:	n/a	n/a
16	POLR2A	chr2:152684070-152685717	K562	blood:	n/a	n/a
17	RCOR1	chr2:152684773-152685692	K562	blood:	n/a	n/a
18	BCLAF1	chr2:152684974-152685821	K562	blood:	n/a	chr2:152685063-152685072
19	MYBL2	chr2:152684081-152685759	HepG2	liver:	n/a	n/a
20	MBD4	chr2:152684689-152685852	HepG2	liver:	n/a	n/a
21	POLR2A	chr2:152684571-152685796	K562	blood:	n/a	n/a
22	BCLAF1	chr2:152685066-152685887	K562	blood:	n/a	n/a
23	MAFK	chr2:152684971-152685880	K562	blood:	n/a	chr2:152685674-152685689 chr2:152685677-152685691 chr2:152685669-152685689
24	MXI1	chr2:152682995-152685713	SK-N-SH	brain:	n/a	chr2:152683425-152683434
25	MAFK	chr2:152685154-152685863	HepG2	liver:	n/a	chr2:152685674-152685689 chr2:152685677-152685691 chr2:152685669-152685689
26	MAFK	chr2:152685078-152685866	HepG2	liver:	n/a	chr2:152685674-152685689 chr2:152685677-152685691 chr2:152685669-152685689
27	MBD4	chr2:152684489-152685752	HepG2	liver:	n/a	n/a
28	POLR2A	chr2:152684042-152685696	GM18505	blood:	n/a	n/a
29	POLR2A	chr2:152684047-152685694	K562	blood:	n/a	n/a
30	POLR2A	chr2:152683965-152685737	GM12892	blood:	n/a	n/a
31	POLR2A	chr2:152684665-152685764	K562	blood:	n/a	n/a
32	PML	chr2:152684550-152685828	K562	blood:	n/a	n/a
33	NRF1	chr2:152684610-152685868	SK-N-SH	brain:	n/a	chr2:152685042-152685053 chr2:152685043-152685057 chr2:152685040-152685054 chr2:152685043-152685052 chr2:152685001-152685010 chr2:152685043-152685054
34	POLR2A	chr2:152684062-152685792	HepG2	liver:	n/a	n/a
35	POLR2A	chr2:152684035-152685759	K562	blood:	n/a	n/a
36	TEAD4	chr2:152684696-152685693	K562	blood:	n/a	n/a
37	POLR2A	chr2:152683938-152685852	GM12878	blood:	n/a	n/a
38	TAF7	chr2:152685080-152685735	K562	blood:	n/a	n/a
39	TEAD4	chr2:152683970-152685708	K562	blood:	n/a	n/a
40	MAFK	chr2:152684965-152685859	IMR90	lung:	n/a	chr2:152685674-152685689 chr2:152685677-152685691 chr2:152685669-152685689
41	POLR2A	chr2:152682900-152685765	MCF10A-Er-Src	breast:	n/a	n/a
42	POLR2A	chr2:152684033-152685886	MCF10A-Er-Src	breast:	n/a	n/a
43	MYC	chr2:152684586-152685956	A549	lung:	n/a	chr2:152685001-152685011
44	MTA3	chr2:152683934-152685747	GM12878	blood:	n/a	n/a

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: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10169098	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10172958	0.81[ASN][1000 genomes]
rs10173570	0.81[ASN][1000 genomes]
rs10179630	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10190733	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10198509	0.81[ASN][1000 genomes]
rs10497093	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12992632	0.81[ASN][1000 genomes]
rs12994595	0.81[ASN][1000 genomes]
rs13386934	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13395294	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13396041	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13402710	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13404687	0.92[EUR][1000 genomes]
rs13414130	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13416266	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13428623	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16830358	0.81[ASN][1000 genomes]
rs16830400	0.81[ASN][1000 genomes]
rs2030589	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2030590	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34629725	0.81[ASN][1000 genomes]
rs36111287	0.81[ASN][1000 genomes]
rs3768656	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62174407	0.91[EUR][1000 genomes]
rs62174408	0.88[EUR][1000 genomes]
rs62174411	0.81[ASN][1000 genomes]
rs6433628	0.81[ASN][1000 genomes]
rs6729878	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7560854	0.81[ASN][1000 genomes]
rs7591340	0.94[EUR][1000 genomes];0.81[ASN][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:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:152683000-152685800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr2:152683800-152685800	Active TSS	Stomach Smooth Muscle	stomach
3	chr2:152684000-152685800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr2:152685200-152685800	Flanking Active TSS	Primary B cells from cord blood	blood
5	chr2:152685200-152685800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
6	chr2:152685200-152685800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
7	chr2:152685200-152685800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
8	chr2:152685200-152685800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr2:152685200-152685800	Flanking Active TSS	Adipose Nuclei	Adipose
10	chr2:152685200-152685800	Flanking Active TSS	Brain Anterior Caudate	brain
11	chr2:152685200-152685800	Flanking Active TSS	Brain Substantia Nigra	brain
12	chr2:152685200-152685800	Flanking Active TSS	Duodenum Mucosa	Duodenum
13	chr2:152685200-152685800	Flanking Active TSS	Dnd41	blood
14	chr2:152685200-152685800	Flanking Active TSS	GM12878-XiMat	blood
15	chr2:152685200-152685800	Flanking Active TSS	K562	blood
16	chr2:152685200-152685800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
17	chr2:152685200-152686000	Flanking Active TSS	HepG2	liver
18	chr2:152685400-152685800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr2:152685400-152685800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr2:152685400-152685800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
21	chr2:152685400-152685800	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr2:152685400-152685800	Flanking Active TSS	Colon Smooth Muscle	Colon
23	chr2:152685400-152685800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
24	chr2:152685400-152685800	Flanking Active TSS	Fetal Lung	lung
25	chr2:152685400-152685800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
26	chr2:152685400-152685800	Flanking Active TSS	Rectal Smooth Muscle	rectum
27	chr2:152685400-152686400	Weak transcription	Spleen	Spleen
28	chr2:152685400-152688200	Enhancers	Fetal Intestine Large	intestine
29	chr2:152685400-152697200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr2:152685600-152685800	Enhancers	H1 Cell Line	embryonic stem cell
31	chr2:152685600-152685800	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr2:152685600-152685800	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr2:152685600-152685800	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr2:152685600-152685800	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr2:152685600-152685800	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr2:152685600-152685800	Enhancers	Primary monocytes fromperipheralblood	blood
37	chr2:152685600-152685800	Enhancers	Primary neutrophils fromperipheralblood	blood
38	chr2:152685600-152685800	Enhancers	Primary B cells from peripheral blood	blood
39	chr2:152685600-152685800	Enhancers	Primary T cells fromperipheralblood	blood
40	chr2:152685600-152685800	Enhancers	Primary hematopoietic stem cells	blood
41	chr2:152685600-152685800	Enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr2:152685600-152685800	Enhancers	Primary T helper cells PMA-I stimulated	--
43	chr2:152685600-152685800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
44	chr2:152685600-152685800	Enhancers	Primary T helper cells fromperipheralblood	blood
45	chr2:152685600-152685800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
46	chr2:152685600-152685800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
47	chr2:152685600-152685800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr2:152685600-152685800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr2:152685600-152685800	Enhancers	Brain Hippocampus Middle	brain
50	chr2:152685600-152685800	Enhancers	Brain Inferior Temporal Lobe	brain

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