Variant report

Variant	rs7630252
Chromosome Location	chr3:132907962-132907963
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	NR2F2	chr3:132907869-132908369	MCF-7	breast:	n/a	chr3:132908128-132908143
2	GATA3	chr3:132907771-132908409	MCF-7	breast:	n/a	n/a
3	FOXA1	chr3:132907762-132908068	T-47D	breast:	n/a	n/a
4	FOXA1	chr3:132907801-132908105	T-47D	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:132907207..132909020-chr3:132909941..132912120,2	K562	blood:

Variant related genes	Relation type
TMEM108	TF binding region
ENSG00000144868	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10446319	1.00[YRI][hapmap]
rs10446320	1.00[YRI][hapmap]
rs10512895	1.00[YRI][hapmap]
rs10935049	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10935053	0.81[CHB][hapmap];1.00[YRI][hapmap]
rs10935056	1.00[YRI][hapmap]
rs10935057	1.00[YRI][hapmap]
rs10935058	1.00[YRI][hapmap]
rs11706654	1.00[YRI][hapmap]
rs11707664	0.96[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11710126	1.00[YRI][hapmap]
rs11714776	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11916334	1.00[YRI][hapmap]
rs11919147	0.93[YRI][hapmap]
rs11919306	0.94[YRI][hapmap]
rs11922161	1.00[YRI][hapmap]
rs11925164	1.00[YRI][hapmap]
rs11925242	1.00[YRI][hapmap]
rs12637903	0.81[CHB][hapmap]
rs1355776	1.00[YRI][hapmap]
rs1450053	0.81[CHB][hapmap];0.87[JPT][hapmap];0.85[ASN][1000 genomes]
rs1513363	1.00[YRI][hapmap]
rs1513373	0.94[YRI][hapmap]
rs16840271	0.94[YRI][hapmap]
rs17298063	1.00[YRI][hapmap]
rs1949220	1.00[YRI][hapmap]
rs1961423	1.00[YRI][hapmap]
rs2122399	1.00[YRI][hapmap]
rs2197968	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3849404	1.00[YRI][hapmap]
rs3849405	1.00[YRI][hapmap]
rs4089503	0.94[YRI][hapmap]
rs4306857	0.80[CHB][hapmap]
rs4459903	0.81[CHB][hapmap];1.00[YRI][hapmap]
rs4600815	1.00[YRI][hapmap]
rs4854579	1.00[YRI][hapmap]
rs4854707	1.00[YRI][hapmap]
rs4854713	1.00[YRI][hapmap]
rs55702045	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55809592	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55951129	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56135248	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57848251	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6439389	1.00[YRI][hapmap]
rs66984248	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6766263	1.00[YRI][hapmap]
rs6774247	1.00[YRI][hapmap]
rs6809033	0.81[CHB][hapmap];1.00[YRI][hapmap]
rs7617947	1.00[YRI][hapmap]
rs7625157	0.92[YRI][hapmap]
rs7627254	1.00[YRI][hapmap]
rs7636781	0.94[YRI][hapmap]
rs7641051	1.00[YRI][hapmap]
rs7642901	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs766952	1.00[YRI][hapmap]
rs769097	1.00[YRI][hapmap]
rs9839940	0.90[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	nsv1000962	chr3:132115062-132919907	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv530055	chr3:132380878-132982343	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 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	chr3:132899600-132912000	Enhancers	Fetal Brain Male	brain
2	chr3:132903000-132910800	Weak transcription	Lung	lung
3	chr3:132904200-132910400	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr3:132904800-132910800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr3:132905200-132909800	Enhancers	Fetal Brain Female	brain
6	chr3:132905800-132910400	Weak transcription	Fetal Lung	lung
7	chr3:132907800-132910800	Weak transcription	Psoas Muscle	Psoas

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