Variant report

Variant	rs6724607
Chromosome Location	chr2:191466532-191466533
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:191466430..191468300-chr2:191469650..191471465,2	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10165399	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10173771	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11680758	0.96[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12611871	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13006708	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13410230	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28452331	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4321393	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4853513	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6434402	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7598979	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7603849	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9630991	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9967829	0.83[YRI][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834492	chr2:191438864-191646621	Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs6724607	HIBCH	cis	Muscle Skeletal	GTEx
rs6724607	FLJ20160	cis	multi-tissue	Pritchard
rs6724607	HIBCH	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:191450400-191469000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr2:191450600-191467000	Weak transcription	Brain Substantia Nigra	brain
3	chr2:191450600-191467200	Weak transcription	Brain Cingulate Gyrus	brain
4	chr2:191456600-191491800	Weak transcription	Aorta	Aorta
5	chr2:191457000-191471600	Weak transcription	Psoas Muscle	Psoas
6	chr2:191457200-191467000	Weak transcription	Brain Angular Gyrus	brain
7	chr2:191458400-191468200	Weak transcription	Left Ventricle	heart
8	chr2:191462000-191471600	Weak transcription	Fetal Lung	lung
9	chr2:191462000-191471600	Weak transcription	Fetal Muscle Leg	muscle
10	chr2:191463600-191468800	Weak transcription	Brain Anterior Caudate	brain
11	chr2:191463800-191467200	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr2:191463800-191470600	Weak transcription	HMEC	breast
13	chr2:191464800-191471600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:191464800-191471800	Weak transcription	Right Atrium	heart
15	chr2:191464800-191472000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr2:191465000-191471800	Weak transcription	Right Ventricle	heart
17	chr2:191465200-191468000	Weak transcription	Fetal Heart	heart
18	chr2:191465400-191467200	Weak transcription	Brain Hippocampus Middle	brain
19	chr2:191465400-191468800	Weak transcription	Hela-S3	cervix
20	chr2:191465400-191470000	Weak transcription	Primary T cells from cord blood	blood
21	chr2:191465600-191471600	Weak transcription	HSMMtube	muscle
22	chr2:191465800-191467400	Weak transcription	A549	lung

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