Variant report

Variant	rs62392949
Chromosome Location	chr6:29633041-29633042
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	chr6:29619372..29622160-chr6:29632758..29634460,2	K562	blood:

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs16895218	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16895757	1.00[AFR][1000 genomes]
rs17184661	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs29233	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs29254	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3117313	0.92[ASN][1000 genomes]
rs3888722	1.00[AFR][1000 genomes]
rs3906306	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4085262	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4085264	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4143366	1.00[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs55661776	1.00[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs55672647	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55693745	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55791644	1.00[AFR][1000 genomes]
rs55792521	0.82[ASN][1000 genomes]
rs55884048	1.00[AFR][1000 genomes]
rs55933609	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56044823	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56101454	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56155978	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56172386	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56269224	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56287651	1.00[AFR][1000 genomes]
rs56290866	1.00[AFR][1000 genomes]
rs56392172	1.00[AFR][1000 genomes]
rs62391766	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62391767	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62391768	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62391770	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62391785	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62391786	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62391801	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62391819	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62391822	1.00[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs62391833	1.00[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs62391835	1.00[AFR][1000 genomes]
rs62391842	1.00[AFR][1000 genomes]
rs62391843	1.00[AFR][1000 genomes]
rs62391844	1.00[AFR][1000 genomes]
rs62391850	1.00[AFR][1000 genomes]
rs62391851	1.00[AFR][1000 genomes]
rs62392946	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62392950	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62392951	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62392953	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62392954	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62392955	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62392956	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62392957	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62392958	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62394668	1.00[AFR][1000 genomes]
rs62394669	1.00[AFR][1000 genomes]
rs62394670	1.00[AFR][1000 genomes]
rs67382831	1.00[AFR][1000 genomes]
rs71550159	1.00[AFR][1000 genomes]
rs9461540	0.83[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	esv2758039	chr6:29469101-29672665	Flanking Active TSS Active TSS Strong transcription Enhancers Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	esv2759411	chr6:29469101-29672665	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:29625000-29663600	Weak transcription	Right Atrium	heart
2	chr6:29629800-29634400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:29630000-29633400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr6:29630400-29633800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr6:29630600-29633400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr6:29630600-29633400	Weak transcription	Brain Substantia Nigra	brain
7	chr6:29630600-29633600	Weak transcription	Brain Angular Gyrus	brain
8	chr6:29630600-29633600	Weak transcription	Brain Anterior Caudate	brain
9	chr6:29630600-29633800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr6:29630800-29634200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr6:29630800-29643200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr6:29631400-29640200	Weak transcription	NHEK	skin
13	chr6:29631800-29633400	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr6:29631800-29633400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr6:29631800-29633400	Weak transcription	Fetal Heart	heart
16	chr6:29631800-29633600	Weak transcription	Brain Cingulate Gyrus	brain
17	chr6:29631800-29633800	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr6:29631800-29635200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr6:29632000-29633200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr6:29632000-29633400	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr6:29632000-29633400	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr6:29632000-29633600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr6:29632000-29633600	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr6:29632000-29633800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr6:29632000-29634600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr6:29632000-29636200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr6:29632000-29638600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr6:29632400-29633400	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr6:29632600-29633600	Weak transcription	Brain Hippocampus Middle	brain
30	chr6:29632600-29634400	Enhancers	iPS-20b Cell Line	embryonic stem cell

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