Variant report

Variant	rs12054064
Chromosome Location	chr3:156174496-156174497
allele	A/G
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	SP1	chr3:156174487-156175246	H1-hESC	embryonic stem cell:	n/a	n/a
2	HA-E2F1	chr3:156174463-156175069	MCF-7	breast:	n/a	n/a
3	FOSL2	chr3:156174493-156174823	HepG2	liver:	n/a	chr3:156174684-156174692 chr3:156174681-156174689 chr3:156174595-156174603
4	MAX	chr3:156174463-156175000	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr3:156174425-156175025	U87	brain:	n/a	n/a
6	FOSL2	chr3:156174398-156174988	MCF-7	breast:	n/a	chr3:156174684-156174692 chr3:156174681-156174689 chr3:156174595-156174603
7	MAX	chr3:156174432-156175121	MCF-7	breast:	n/a	n/a
8	TAF1	chr3:156174483-156174914	H1-hESC	embryonic stem cell:	n/a	n/a
9	FOSL1	chr3:156174484-156174844	K562	blood:	n/a	chr3:156174684-156174692 chr3:156174681-156174689 chr3:156174595-156174603
10	POLR2A	chr3:156174488-156174497	H1-hESC	embryonic stem cell:	n/a	n/a
11	GABPA	chr3:156174442-156174942	MCF-7	breast:	n/a	n/a
12	YY1	chr3:156174465-156175050	H1-hESC	embryonic stem cell:	n/a	n/a
13	MAX	chr3:156174442-156175085	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:156164530..156166342-chr3:156174319..156176025,2	MCF-7	breast:

Variant related genes	Relation type
KCNAB1	TF binding region
ENSG00000242370	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs12053933	1.00[CHB][hapmap];0.87[YRI][hapmap];0.96[ASN][1000 genomes]
rs1357434	1.00[CEU][hapmap]
rs16826030	1.00[CEU][hapmap]
rs16826100	1.00[CEU][hapmap]
rs16826101	1.00[CEU][hapmap]
rs17317344	1.00[CEU][hapmap]
rs2272112	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[ASN][1000 genomes]
rs2272113	0.96[ASN][1000 genomes]
rs3755633	1.00[CEU][hapmap]
rs56252144	0.83[AMR][1000 genomes]
rs6441068	1.00[CEU][hapmap]
rs6441072	1.00[CEU][hapmap]
rs6791462	1.00[CEU][hapmap]
rs6796127	1.00[CEU][hapmap]
rs9823622	1.00[CEU][hapmap]
rs9824778	1.00[CEU][hapmap]
rs9855009	1.00[CEU][hapmap]
rs9990240	1.00[CHB][hapmap];0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014755	chr3:155889430-156411894	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:156162600-156174800	Weak transcription	Brain Hippocampus Middle	brain
2	chr3:156170200-156176800	Weak transcription	Stomach Smooth Muscle	stomach
3	chr3:156170600-156176800	Weak transcription	Aorta	Aorta
4	chr3:156171000-156175400	Weak transcription	Right Ventricle	heart
5	chr3:156172200-156174600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr3:156173000-156175400	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr3:156173000-156178200	Weak transcription	Left Ventricle	heart
8	chr3:156173000-156180400	Enhancers	K562	blood
9	chr3:156173400-156174600	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr3:156173400-156175800	Enhancers	H1 Cell Line	embryonic stem cell
11	chr3:156173400-156177000	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr3:156173600-156174800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr3:156173600-156175200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr3:156173800-156174600	Weak transcription	Esophagus	oesophagus
15	chr3:156173800-156174600	Weak transcription	Pancreas	Pancrea
16	chr3:156173800-156175200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr3:156173800-156175200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr3:156173800-156176600	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr3:156174000-156175000	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr3:156174000-156175200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr3:156174200-156174800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr3:156174200-156175000	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr3:156174400-156175000	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr3:156174400-156175000	Enhancers	NH-A	brain
25	chr3:156174400-156175200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr3:156174400-156175200	Enhancers	HMEC	breast
27	chr3:156174400-156175200	Enhancers	NHEK	skin
28	chr3:156174400-156175400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
29	chr3:156174400-156175400	Enhancers	Colon Smooth Muscle	Colon
30	chr3:156174400-156175600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr3:156174400-156176000	Enhancers	HUES64 Cell Line	embryonic stem cell

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