Variant report

Variant	rs6542114
Chromosome Location	chr2:113862825-113862826
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	FOS	chr2:113862618-113863045	MCF10A-Er-Src	breast:	n/a	chr2:113862820-113862829
2	STAT3	chr2:113862724-113862879	MCF10A-Er-Src	breast:	n/a	n/a
3	STAT3	chr2:113862776-113862972	MCF10A-Er-Src	breast:	n/a	n/a
4	JUN	chr2:113862568-113863224	K562	blood:	n/a	chr2:113862820-113862829 chr2:113862819-113862832
5	JUND	chr2:113862657-113863008	HepG2	liver:	n/a	chr2:113862820-113862829 chr2:113862803-113862814
6	FOS	chr2:113862618-113862974	MCF10A-Er-Src	breast:	n/a	chr2:113862820-113862829
7	JUN	chr2:113862641-113862996	K562	blood:	n/a	chr2:113862820-113862829 chr2:113862819-113862832
8	JUN	chr2:113862706-113862944	HepG2	liver:	n/a	chr2:113862820-113862829 chr2:113862819-113862832
9	JUN	chr2:113862663-113862931	K562	blood:	n/a	chr2:113862820-113862829 chr2:113862819-113862832
10	FOSL2	chr2:113862656-113862959	A549	lung:	n/a	chr2:113862820-113862829
11	FOS	chr2:113862619-113863101	MCF10A-Er-Src	breast:	n/a	chr2:113862820-113862829
12	JUND	chr2:113862624-113862985	K562	blood:	n/a	chr2:113862820-113862829 chr2:113862803-113862814
13	FOS	chr2:113862648-113862996	MCF10A-Er-Src	breast:	n/a	chr2:113862820-113862829
14	STAT3	chr2:113862748-113862943	MCF10A-Er-Src	breast:	n/a	n/a
15	STAT3	chr2:113862713-113862989	MCF10A-Er-Src	breast:	n/a	n/a
16	MAFK	chr2:113862654-113862978	K562	blood:	n/a	n/a
17	MYC	chr2:113862748-113862948	MCF10A-Er-Src	breast:	n/a	n/a
18	RCOR1	chr2:113862785-113862869	K562	blood:	n/a	n/a
19	E2F4	chr2:113862744-113862944	MCF10A-Er-Src	breast:	n/a	chr2:113862821-113862830 chr2:113862819-113862828
20	ATF1	chr2:113862643-113863066	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:113717657..113719208-chr2:113861543..113864051,2	K562	blood:
2	chr2:113861550..113863343-chr2:113866898..113869412,2	MCF-7	breast:
3	chr2:113856768..113859655-chr2:113862329..113864158,2	K562	blood:
4	chr2:113859222..113863873-chr2:113865698..113870621,4	K562	blood:

Variant related genes	Relation type
IL1RN	TF binding region
ENSG00000136689	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs10205381	1.00[MEX][hapmap]
rs17042601	1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532471	chr2:113682449-113862981	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv997348	chr2:113688093-113986508	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1007254	chr2:113726982-113887782	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv535894	chr2:113726982-113887782	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv1003928	chr2:113846503-113887782	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6542114	ABP1	trans	lymphoblastoid	seeQTL
rs6542114	MUC13	trans	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113861200-113863400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr2:113861800-113863200	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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