Variant report

Variant	rs6427234
Chromosome Location	chr1:170135669-170135670
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:170129471..170132945-chr1:170134793..170138535,3	K562	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10800498	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs10800499	0.81[AMR][1000 genomes]
rs10800500	1.00[CHB][hapmap];0.91[JPT][hapmap];0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs10800502	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10800505	0.81[ASN][1000 genomes]
rs10800506	0.81[ASN][1000 genomes]
rs10919306	1.00[CHB][hapmap];0.92[JPT][hapmap];0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs10919307	1.00[CHB][hapmap];0.91[JPT][hapmap];0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10919309	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10919312	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10919321	0.81[ASN][1000 genomes]
rs10919322	0.81[ASN][1000 genomes]
rs10919324	0.81[ASN][1000 genomes]
rs11484822	0.81[ASN][1000 genomes]
rs11484824	0.81[ASN][1000 genomes]
rs11526503	0.81[CHB][hapmap]
rs12039113	0.81[ASN][1000 genomes]
rs12569092	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12751063	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16862963	0.81[CHB][hapmap]
rs16862985	0.81[CHB][hapmap]
rs2901341	0.81[ASN][1000 genomes]
rs35081369	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4332407	1.00[CHB][hapmap];0.92[JPT][hapmap];0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs477960	0.87[AFR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs480667	0.88[AFR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs490771	0.87[ASN][1000 genomes]
rs495127	0.84[JPT][hapmap]
rs519459	0.84[JPT][hapmap]
rs533666	0.81[ASN][1000 genomes]
rs550575	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs561326	0.83[JPT][hapmap];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs562931	0.84[JPT][hapmap];0.87[AFR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs569357	0.81[ASN][1000 genomes]
rs6427235	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6427236	0.84[JPT][hapmap]
rs6669514	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6686398	0.81[CHB][hapmap]
rs7544677	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs979347	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[ASN][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	nsv1014033	chr1:169968488-170453021	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
2	nsv535200	chr1:169968488-170453021	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
3	nsv999310	chr1:170065943-170223350	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
4	nsv3454	chr1:170134880-170149447	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:170132000-170135800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr1:170132200-170136600	Weak transcription	Ovary	ovary
3	chr1:170132200-170136800	Weak transcription	Fetal Muscle Leg	muscle
4	chr1:170132400-170136600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr1:170132400-170136600	Weak transcription	Left Ventricle	heart
6	chr1:170132400-170136800	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr1:170132400-170140200	Weak transcription	Right Ventricle	heart
8	chr1:170132600-170136800	Weak transcription	Fetal Kidney	kidney
9	chr1:170132600-170136800	Weak transcription	HSMM	muscle
10	chr1:170132600-170137200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr1:170132600-170137200	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr1:170132600-170137200	Weak transcription	Osteobl	bone
13	chr1:170132600-170137600	Weak transcription	HSMMtube	muscle
14	chr1:170132800-170140600	Weak transcription	Fetal Heart	heart
15	chr1:170133200-170136800	Weak transcription	NHDF-Ad	bronchial
16	chr1:170135600-170136000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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