Variant report

Variant	rs2121975
Chromosome Location	chr2:187553817-187553818
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	FOXA1	chr2:187553430-187554010	HepG2	liver:	n/a	chr2:187553738-187553753
2	ARID3A	chr2:187553647-187553919	HepG2	liver:	n/a	n/a
3	FOXA1	chr2:187553610-187553948	T-47D	breast:	n/a	chr2:187553738-187553753
4	FOXA1	chr2:187553445-187553867	HepG2	liver:	n/a	chr2:187553738-187553753
5	FOXA2	chr2:187553481-187554017	HepG2	liver:	n/a	n/a
6	NFIC	chr2:187553441-187553946	HepG2	liver:	n/a	n/a
7	FOXA1	chr2:187553413-187554009	HepG2	liver:	n/a	chr2:187553738-187553753

No.	Distal block	Cell Line	Cell type
1	chr2:187551414..187554587-chr2:187560007..187561891,3	K562	blood:
2	chr2:187553087..187557592-chr2:187558949..187563450,5	K562	blood:
3	chr2:187551282..187557363-chr2:187557813..187561684,8	MCF-7	breast:
4	chr2:187547487..187550393-chr2:187552355..187554929,3	K562	blood:

Variant related genes	Relation type
FAM171B	TF binding region
ENSG00000227227	Chromatin interaction
ENSG00000144369	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10165992	0.93[CEU][hapmap];0.88[CHB][hapmap]
rs1072901	0.88[CHB][hapmap];0.80[ASN][1000 genomes]
rs10755000	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10931253	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12475476	0.94[CHB][hapmap];0.82[ASN][1000 genomes]
rs12618322	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12620821	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13020260	0.88[CHB][hapmap]
rs13028008	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1448427	1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[JPT][hapmap];0.91[ASN][1000 genomes]
rs17406229	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17406346	0.88[CHB][hapmap]
rs2121976	1.00[CEU][hapmap];0.88[CHB][hapmap];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2290083	0.83[ASN][1000 genomes]
rs2595395	0.92[CEU][hapmap];0.88[CHB][hapmap]
rs2682868	0.86[EUR][1000 genomes]
rs2682873	1.00[CEU][hapmap];0.88[CHB][hapmap];0.86[EUR][1000 genomes]
rs3213964	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs34056045	0.81[ASN][1000 genomes]
rs34840521	0.91[ASN][1000 genomes]
rs35348196	0.91[ASN][1000 genomes]
rs3768785	0.88[CHB][hapmap]
rs3816375	1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[JPT][hapmap];0.88[ASN][1000 genomes]
rs41265951	0.81[ASN][1000 genomes]
rs4667108	1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[JPT][hapmap];0.88[ASN][1000 genomes]
rs4667112	0.82[ASN][1000 genomes]
rs4667113	0.81[ASN][1000 genomes]
rs55961288	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56222785	0.88[ASN][1000 genomes]
rs6705757	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[JPT][hapmap];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs718259	0.88[CHB][hapmap]
rs7585442	1.00[CHB][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs7585471	1.00[CHB][hapmap];0.95[CHD][hapmap];0.92[JPT][hapmap];0.87[ASN][1000 genomes]
rs930657	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9789704	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757844	chr2:187332780-187580547	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	esv2759107	chr2:187332780-187580547	Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:187539200-187557800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr2:187541800-187558400	Weak transcription	Left Ventricle	heart
3	chr2:187542000-187555400	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr2:187543400-187558200	Weak transcription	NHDF-Ad	bronchial
5	chr2:187543600-187558200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr2:187546200-187558200	Weak transcription	Placenta	Placenta
7	chr2:187546800-187558000	Weak transcription	A549	lung

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