Variant report

Variant	rs7573137
Chromosome Location	chr2:180665942-180665943
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:180664595..180667266-chr2:180669827..180672570,2	K562	blood:
2	chr2:180663219..180666170-chr2:180666828..180669197,2	K562	blood:
3	chr2:180658967..180660810-chr2:180663202..180665986,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000144331	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10183495	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10185471	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[EUR][1000 genomes]
rs10195952	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[EUR][1000 genomes]
rs10205122	0.86[EUR][1000 genomes]
rs12328338	0.83[CEU][hapmap]
rs13388545	1.00[CHB][hapmap]
rs13398994	0.84[CEU][hapmap];1.00[CHB][hapmap];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13399189	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13399303	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13407401	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[EUR][1000 genomes]
rs13410767	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13418648	0.86[CEU][hapmap];1.00[CHB][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1351416	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[EUR][1000 genomes]
rs1480706	0.96[CEU][hapmap];1.00[CHB][hapmap];0.86[EUR][1000 genomes]
rs1480707	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[EUR][1000 genomes]
rs1486234	0.88[CEU][hapmap];1.00[CHB][hapmap]
rs16867014	0.88[CEU][hapmap];1.00[CHB][hapmap]
rs1906012	0.92[CEU][hapmap]
rs4894128	0.88[CEU][hapmap];1.00[CHB][hapmap]
rs4894130	0.86[EUR][1000 genomes]
rs6433810	0.84[CEU][hapmap]
rs6433811	0.84[CEU][hapmap]
rs6706312	1.00[CHB][hapmap]
rs7570985	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7585592	0.88[CEU][hapmap];1.00[YRI][hapmap]
rs7588035	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs7588510	0.96[CEU][hapmap]
rs7601013	0.96[CEU][hapmap];1.00[CHB][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7603617	0.83[CEU][hapmap];1.00[CHB][hapmap]
rs7607354	0.96[CEU][hapmap];1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs966440	0.96[CEU][hapmap];1.00[CHB][hapmap];0.86[EUR][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	nsv1002305	chr2:180568558-180812846	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
2	nsv428731	chr2:180629389-180805171	Weak transcription Bivalent/Poised TSS Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:180655600-180669600	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr2:180665400-180666000	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr2:180665400-180666000	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr2:180665600-180666200	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr2:180665600-180667000	Enhancers	Fetal Brain Male	brain
6	chr2:180665800-180666200	Enhancers	H9 Cell Line	embryonic stem cell

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