Variant report

Variant	rs4503636
Chromosome Location	chr12:64667993-64667994
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:23)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:23 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr12:64667333-64668064	A549	lung:	n/a	n/a
2	CTCF	chr12:64667940-64668090	GM12865	blood:	n/a	n/a
3	E2F6	chr12:64667531-64668189	H1-hESC	embryonic stem cell:	n/a	n/a
4	CREB1	chr12:64667458-64668207	H1-hESC	embryonic stem cell:	n/a	n/a
5	ZNF143	chr12:64667511-64668170	H1-hESC	embryonic stem cell:	n/a	n/a
6	RAD21	chr12:64667431-64668091	SK-N-SH	brain:	n/a	n/a
7	CTCF	chr12:64667880-64668030	K562	blood:	n/a	n/a
8	RAD21	chr12:64667441-64668013	MCF-7	breast:	n/a	n/a
9	E2F6	chr12:64667410-64668275	H1-hESC	embryonic stem cell:	n/a	n/a
10	RAD21	chr12:64667410-64668056	HCT-116	colon:	n/a	n/a
11	MAX	chr12:64667519-64668253	H1-hESC	embryonic stem cell:	n/a	chr12:64667686-64667696
12	RAD21	chr12:64667342-64668205	H1-hESC	embryonic stem cell:	n/a	n/a
13	RAD21	chr12:64667447-64668041	ECC-1	luminal epithelium:	n/a	n/a
14	CTCF	chr12:64667296-64668049	MCF-7	breast:	n/a	n/a
15	CTCF	chr12:64667385-64668087	H1-hESC	embryonic stem cell:	n/a	n/a
16	YY1	chr12:64667394-64668368	H1-hESC	embryonic stem cell:	n/a	n/a
17	YY1	chr12:64667926-64668288	H1-hESC	embryonic stem cell:	n/a	n/a
18	CTCF	chr12:64667940-64668090	HVMF	connective:	n/a	n/a
19	MAX	chr12:64667451-64668279	H1-hESC	embryonic stem cell:	n/a	chr12:64667686-64667696
20	MAX	chr12:64667465-64668182	H1-hESC	embryonic stem cell:	n/a	chr12:64667686-64667696
21	RAD21	chr12:64667438-64668177	H1-hESC	embryonic stem cell:	n/a	n/a
22	RAD21	chr12:64667409-64668005	A549	lung:	n/a	n/a
23	RAD21	chr12:64667414-64668010	A549	lung:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:64236984..64239290-chr12:64667145..64669112,2	MCF-7	breast:
2	chr12:64667667..64670123-chr12:64797351..64799283,2	K562	blood:
3	chr12:64232868..64233765-chr12:64667261..64668056,2	MCF-7	breast:
4	chr12:64667209..64668158-chr12:64785710..64786773,8	MCF-7	breast:
5	chr12:64666267..64669133-chr12:64797139..64800430,4	MCF-7	breast:
6	chr12:64667204..64668246-chr12:64785531..64786298,5	MCF-7	breast:
7	chr12:64667186..64668381-chr12:64766771..64767890,3	MCF-7	breast:

No data

Variant related genes	Relation type
C12orf56	TF binding region
ENSG00000196935	Chromatin interaction
ENSG00000184575	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10735923	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10784393	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10784399	1.00[EUR][1000 genomes]
rs11831579	1.00[EUR][1000 genomes]
rs11836616	1.00[EUR][1000 genomes]
rs1347577	1.00[EUR][1000 genomes]
rs1613429	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1708205	1.00[EUR][1000 genomes]
rs17100200	1.00[EUR][1000 genomes]
rs17100256	1.00[EUR][1000 genomes]
rs17100259	1.00[EUR][1000 genomes]
rs1836865	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1865799	1.00[EUR][1000 genomes]
rs2335358	1.00[EUR][1000 genomes]
rs2575287	0.81[YRI][hapmap];1.00[AMR][1000 genomes]
rs2575288	1.00[AMR][1000 genomes]
rs2643662	0.83[YRI][hapmap];1.00[AMR][1000 genomes]
rs2878282	1.00[EUR][1000 genomes]
rs4237926	1.00[EUR][1000 genomes]
rs4606564	1.00[EUR][1000 genomes]
rs4763013	1.00[EUR][1000 genomes]
rs4763014	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55973281	1.00[EUR][1000 genomes]
rs56011088	1.00[EUR][1000 genomes]
rs56784792	1.00[EUR][1000 genomes]
rs58160282	1.00[EUR][1000 genomes]
rs59450427	1.00[EUR][1000 genomes]
rs60242151	1.00[EUR][1000 genomes]
rs73311817	1.00[EUR][1000 genomes]
rs73311823	1.00[EUR][1000 genomes]
rs73311828	1.00[EUR][1000 genomes]
rs73325081	1.00[EUR][1000 genomes]
rs73325098	1.00[EUR][1000 genomes]
rs73327118	1.00[EUR][1000 genomes]
rs73327129	1.00[EUR][1000 genomes]
rs73327138	1.00[EUR][1000 genomes]
rs73327148	1.00[EUR][1000 genomes]
rs73327152	1.00[EUR][1000 genomes]
rs73327153	1.00[EUR][1000 genomes]
rs790015	1.00[AMR][1000 genomes]
rs7973979	1.00[EUR][1000 genomes]
rs7974953	1.00[EUR][1000 genomes]
rs9888445	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	esv3351487	chr12:64420364-64763950	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	esv3509287	chr12:64526217-64736995	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	esv3509288	chr12:64526217-64736995	ZNF genes & repeats Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:64667200-64668000	Enhancers	Brain Cingulate Gyrus	brain
2	chr12:64667400-64668000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
3	chr12:64667400-64668000	Enhancers	H1 Cell Line	embryonic stem cell
4	chr12:64667400-64668000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr12:64667400-64668000	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr12:64667400-64668000	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr12:64667400-64668000	Enhancers	A549	lung
8	chr12:64667600-64668000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr12:64667600-64668000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr12:64667600-64668000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr12:64667600-64668000	Enhancers	Brain Hippocampus Middle	brain
12	chr12:64667600-64694400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr12:64667800-64668000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr12:64667800-64668000	Enhancers	Placenta	Placenta
15	chr12:64667800-64668000	Enhancers	Right Ventricle	heart
16	chr12:64667800-64668400	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr12:64667800-64668400	Enhancers	H9 Cell Line	embryonic stem cell
18	chr12:64667800-64668400	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr12:64667800-64668400	Enhancers	iPS-15b Cell Line	embryonic stem cell

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