Variant report

Variant	rs17701186
Chromosome Location	chr10:50339518-50339519
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:50338793..50341624-chr10:50344391..50347108,2	K562	blood:
2	chr10:50338354..50340980-chr10:50380795..50383711,2	K562	blood:
3	chr10:50337758..50340130-chr10:50341015..50343464,2	K562	blood:
4	chr10:50338839..50340427-chr10:50376462..50378560,2	K562	blood:
5	chr10:50327680..50329332-chr10:50338988..50341061,2	K562	blood:
6	chr10:50339347..50342012-chr10:50362966..50365728,2	K562	blood:

Variant related genes	Relation type
ENSG00000172538	Chromatin interaction
ENSG00000234736	Chromatin interaction

Extended variants
information (count: 87 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:84)

rs_ID	r²[population]
rs11100989	0.90[ASN][1000 genomes]
rs11100990	0.90[ASN][1000 genomes]
rs12240534	0.86[ASN][1000 genomes]
rs12244666	0.82[EUR][1000 genomes]
rs12244748	0.82[EUR][1000 genomes]
rs12253426	0.82[EUR][1000 genomes]
rs12255055	0.86[ASN][1000 genomes]
rs12255090	0.82[EUR][1000 genomes]
rs12256777	0.83[EUR][1000 genomes]
rs12257242	0.88[EUR][1000 genomes]
rs12261297	0.85[EUR][1000 genomes]
rs12267388	0.90[ASN][1000 genomes]
rs12765281	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12769361	0.88[EUR][1000 genomes]
rs12774293	0.80[EUR][1000 genomes]
rs12776460	0.88[EUR][1000 genomes]
rs12776553	0.87[ASN][1000 genomes]
rs17011744	0.83[EUR][1000 genomes]
rs17011746	0.83[EUR][1000 genomes]
rs17011757	0.85[EUR][1000 genomes]
rs17700872	0.88[EUR][1000 genomes]
rs17773851	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17782733	0.86[ASN][1000 genomes]
rs1986725	0.94[ASN][1000 genomes]
rs2003044	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2490838	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2725179	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2725181	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2725184	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2725185	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2725190	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2804931	0.82[ASN][1000 genomes]
rs2804934	0.87[ASN][1000 genomes]
rs2804937	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2804939	0.94[ASN][1000 genomes]
rs2804940	0.94[ASN][1000 genomes]
rs2804941	0.95[ASN][1000 genomes]
rs34056748	0.92[ASN][1000 genomes]
rs34062275	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34110351	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34289781	0.86[EUR][1000 genomes]
rs34364659	0.88[EUR][1000 genomes]
rs34436721	0.98[ASN][1000 genomes]
rs34467986	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34574986	0.88[EUR][1000 genomes]
rs34589684	1.00[ASN][1000 genomes]
rs34640094	0.88[EUR][1000 genomes]
rs34786393	0.92[ASN][1000 genomes]
rs34878380	0.88[EUR][1000 genomes]
rs35007047	0.90[ASN][1000 genomes]
rs35285557	0.87[ASN][1000 genomes]
rs35341824	0.83[EUR][1000 genomes]
rs35462783	0.82[EUR][1000 genomes]
rs35666409	0.87[ASN][1000 genomes]
rs35922675	0.88[EUR][1000 genomes]
rs4073138	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4073139	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4073711	0.85[ASN][1000 genomes]
rs4350286	0.91[ASN][1000 genomes]
rs4364979	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4400713	0.83[EUR][1000 genomes]
rs4402204	0.82[EUR][1000 genomes]
rs4445564	0.84[EUR][1000 genomes]
rs4481947	0.80[EUR][1000 genomes]
rs4495812	0.96[ASN][1000 genomes]
rs4497320	0.89[ASN][1000 genomes]
rs4508127	0.85[EUR][1000 genomes]
rs4600129	0.83[EUR][1000 genomes]
rs4644582	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs55947405	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56291725	0.88[EUR][1000 genomes]
rs58154726	0.86[EUR][1000 genomes]
rs58893558	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs67269950	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs68065270	0.86[EUR][1000 genomes]
rs7070387	0.82[EUR][1000 genomes]
rs7073208	0.82[EUR][1000 genomes]
rs7081243	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7085823	0.83[EUR][1000 genomes]
rs7088718	0.82[EUR][1000 genomes]
rs7100655	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72785015	0.88[EUR][1000 genomes]
rs7896344	0.82[EUR][1000 genomes]
rs9804403	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	esv1824894	chr10:50309905-50340304	Genic enhancers Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	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	chr10:50324000-50343600	Weak transcription	Right Atrium	heart
2	chr10:50336000-50344200	Enhancers	Fetal Muscle Leg	muscle
3	chr10:50336600-50341800	Weak transcription	Fetal Thymus	thymus
4	chr10:50338000-50340200	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr10:50338600-50340400	Enhancers	Fetal Muscle Trunk	muscle
6	chr10:50339000-50339800	Enhancers	Fetal Lung	lung
7	chr10:50339200-50340000	Flanking Active TSS	HSMMtube	muscle
8	chr10:50339400-50339600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr10:50339400-50339600	Enhancers	Colonic Mucosa	Colon
10	chr10:50339400-50339600	Flanking Active TSS	Duodenum Mucosa	Duodenum
11	chr10:50339400-50339600	Bivalent Enhancer	HSMM	muscle
12	chr10:50339400-50340000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr10:50339400-50340000	Bivalent Enhancer	Fetal Stomach	stomach
14	chr10:50339400-50340000	Enhancers	Left Ventricle	heart
15	chr10:50339400-50340000	Enhancers	Ovary	ovary
16	chr10:50339400-50340000	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
17	chr10:50339400-50340200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle

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