Variant report

Variant	rs6870711
Chromosome Location	chr5:126419094-126419095
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:126408605..126411145-chr5:126418243..126420941,2	K562	blood:

Variant related genes	Relation type
ENSG00000164241	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10040840	0.86[GIH][hapmap]
rs10075097	0.96[EUR][1000 genomes]
rs10519920	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10519922	0.90[ASN][1000 genomes]
rs12653823	1.00[CEU][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12655006	0.89[GIH][hapmap]
rs12655258	0.89[GIH][hapmap]
rs12655699	1.00[CEU][hapmap];0.85[YRI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12656223	1.00[CEU][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12656837	0.89[GIH][hapmap]
rs12658138	0.89[GIH][hapmap]
rs17165192	0.90[ASN][1000 genomes]
rs17165194	0.86[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs17165211	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17165213	1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap]
rs17165234	0.89[GIH][hapmap]
rs17165236	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17165244	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs17165248	1.00[CEU][hapmap];0.93[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs17165251	1.00[CEU][hapmap];0.92[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs4141170	1.00[CEU][hapmap];0.93[GIH][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56073877	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56279346	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57285842	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58030771	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58754116	1.00[EUR][1000 genomes]
rs59770843	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60892581	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61544197	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61679093	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61697996	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6595747	1.00[CEU][hapmap];0.93[GIH][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6860157	1.00[CEU][hapmap]
rs6860581	1.00[CEU][hapmap];0.93[GIH][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6864607	0.89[GIH][hapmap]
rs6877692	0.89[GIH][hapmap]
rs6883181	1.00[ASN][1000 genomes]
rs6886131	1.00[CEU][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6888532	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6892168	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6893763	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs6899030	0.95[ASN][1000 genomes]
rs73339248	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73339251	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73339283	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73339293	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73783529	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7709865	1.00[CEU][hapmap];0.93[GIH][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024265	chr5:126213004-126691163	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv869897	chr5:126224358-126445210	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1033607	chr5:126385181-127304459	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	esv1816248	chr5:126399039-126486539	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126412600-126427400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr5:126413600-126421800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr5:126413600-126424000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr5:126413600-126428000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr5:126416200-126420800	Weak transcription	NHEK	skin
6	chr5:126416200-126423600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr5:126416400-126420400	Weak transcription	K562	blood
8	chr5:126416400-126421200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr5:126416400-126421800	Weak transcription	Fetal Intestine Small	intestine
10	chr5:126416800-126419400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr5:126416800-126421000	Weak transcription	HMEC	breast
12	chr5:126416800-126421800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr5:126416800-126428200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr5:126417000-126419600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr5:126417000-126421000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr5:126417000-126421400	Weak transcription	Fetal Intestine Large	intestine
17	chr5:126418600-126419200	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr5:126418800-126419200	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr5:126418800-126419400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr5:126418800-126419400	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr5:126418800-126419400	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr5:126418800-126419600	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr5:126419000-126419600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr5:126419000-126419600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr5:126419000-126419600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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