Variant report

Variant	rs2804939
Chromosome Location	chr10:50361625-50361626
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:50360501..50363437-chr10:50365924..50369669,5	K562	blood:
2	chr10:50358294..50360224-chr10:50361427..50364405,2	K562	blood:
3	chr10:50322474..50324170-chr10:50359110..50361723,2	K562	blood:
4	chr10:50358962..50361872-chr10:50363611..50365233,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000165633	Chromatin interaction

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs11100988	0.95[CEU][hapmap];1.00[CHB][hapmap];0.92[EUR][1000 genomes]
rs11100989	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11100990	0.92[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12198	0.81[CHD][hapmap]
rs12240534	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs12246766	0.85[EUR][1000 genomes]
rs12255055	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12267388	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12269023	0.80[CEU][hapmap];0.81[TSI][hapmap]
rs12765281	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs12776553	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13088	0.88[CEU][hapmap];0.91[GIH][hapmap];0.88[TSI][hapmap];0.87[EUR][1000 genomes]
rs17701186	0.94[ASN][1000 genomes]
rs17773851	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs17782733	1.00[CHB][hapmap];0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs1986725	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2003044	0.89[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2490838	0.98[ASN][1000 genomes]
rs2725179	0.94[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2725181	0.94[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2725184	0.96[ASN][1000 genomes]
rs2725185	0.98[ASN][1000 genomes]
rs2725190	0.98[ASN][1000 genomes]
rs2725194	0.81[ASN][1000 genomes]
rs2804928	0.81[ASN][1000 genomes]
rs2804930	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs2804931	0.89[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2804932	0.89[CHB][hapmap];0.84[CHD][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs2804934	0.93[ASW][hapmap];0.88[CEU][hapmap];0.94[CHB][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.80[LWK][hapmap];0.86[TSI][hapmap];0.91[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2804937	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2804938	0.81[CHD][hapmap]
rs2804940	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2804941	0.99[ASN][1000 genomes]
rs34056748	0.90[ASN][1000 genomes]
rs34062275	0.94[ASN][1000 genomes]
rs34110351	0.94[ASN][1000 genomes]
rs34436721	0.96[ASN][1000 genomes]
rs34467986	0.94[ASN][1000 genomes]
rs34589684	0.94[ASN][1000 genomes]
rs34786393	0.90[ASN][1000 genomes]
rs35007047	0.87[ASN][1000 genomes]
rs35285557	0.85[ASN][1000 genomes]
rs35666409	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs36015645	0.88[EUR][1000 genomes]
rs4073138	0.96[ASN][1000 genomes]
rs4073139	0.96[ASN][1000 genomes]
rs4073711	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4073712	0.87[CEU][hapmap];1.00[CHB][hapmap]
rs4240499	0.81[EUR][1000 genomes]
rs4240500	0.92[EUR][1000 genomes]
rs4319434	0.81[CHD][hapmap]
rs4344406	0.88[CEU][hapmap];1.00[CHB][hapmap];0.87[EUR][1000 genomes]
rs4350286	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4364979	0.85[ASN][1000 genomes]
rs4403731	0.80[CEU][hapmap]
rs4412679	0.92[EUR][1000 genomes]
rs4417190	0.96[CEU][hapmap];1.00[CHB][hapmap];0.92[EUR][1000 genomes]
rs4495812	0.98[ASN][1000 genomes]
rs4497320	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4509682	0.88[CEU][hapmap];0.93[GIH][hapmap];0.82[TSI][hapmap];0.86[EUR][1000 genomes]
rs4532948	0.92[EUR][1000 genomes]
rs4558091	0.88[CEU][hapmap];1.00[CHB][hapmap];0.81[CHD][hapmap];0.93[GIH][hapmap];0.93[TSI][hapmap];0.91[EUR][1000 genomes]
rs4559606	0.91[EUR][1000 genomes]
rs4620641	0.96[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.93[GIH][hapmap];0.95[TSI][hapmap];0.92[EUR][1000 genomes]
rs4644582	0.85[ASN][1000 genomes]
rs4838365	0.91[EUR][1000 genomes]
rs4838367	0.89[EUR][1000 genomes]
rs4838446	0.88[CEU][hapmap];1.00[CHB][hapmap];0.93[GIH][hapmap];0.93[TSI][hapmap];0.91[EUR][1000 genomes]
rs4838447	0.95[CEU][hapmap];0.87[CHB][hapmap];0.92[EUR][1000 genomes]
rs55947405	0.96[ASN][1000 genomes]
rs58893558	0.90[ASN][1000 genomes]
rs6537497	0.84[CEU][hapmap];0.89[GIH][hapmap];0.86[TSI][hapmap]
rs67269950	0.96[ASN][1000 genomes]
rs7072243	0.88[CEU][hapmap];1.00[CHB][hapmap];0.81[CHD][hapmap];0.93[GIH][hapmap];0.93[TSI][hapmap];0.91[EUR][1000 genomes]
rs7081243	0.94[ASN][1000 genomes]
rs7097933	0.80[CEU][hapmap]
rs7100655	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.94[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	nsv895375	chr10:50306386-51028871	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv534410	chr10:50317458-50826916	Weak transcription Bivalent Enhancer Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50354400-50362000	Weak transcription	K562	blood
2	chr10:50358800-50362000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr10:50359000-50382200	Weak transcription	Left Ventricle	heart
4	chr10:50359200-50362000	Weak transcription	HSMM	muscle
5	chr10:50359200-50363600	Weak transcription	Adipose Nuclei	Adipose
6	chr10:50359200-50375400	Weak transcription	Right Atrium	heart
7	chr10:50359400-50364600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr10:50359400-50365200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr10:50359400-50373400	Weak transcription	Right Ventricle	heart
10	chr10:50359400-50374000	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr10:50359600-50362600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr10:50359600-50364600	Weak transcription	Fetal Thymus	thymus
13	chr10:50361400-50361800	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr10:50361400-50362600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr10:50361400-50362600	Enhancers	NHDF-Ad	bronchial
16	chr10:50361400-50362800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr10:50361600-50362600	Enhancers	HSMMtube	muscle

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