Variant report

Variant	rs34822312
Chromosome Location	chr7:70793712-70793713
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	chr7:70787528..70789669-chr7:70793598..70795128,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10267677	0.90[EUR][1000 genomes]
rs11760742	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11763372	0.81[EUR][1000 genomes]
rs11768233	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11770205	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11771662	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13240200	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17628870	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2107795	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2527286	0.88[EUR][1000 genomes]
rs2527313	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2707425	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2707433	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2707438	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34445434	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35964468	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4717591	0.90[AMR][1000 genomes]
rs4719115	0.90[EUR][1000 genomes]
rs55690472	0.85[AMR][1000 genomes]
rs6952259	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6972973	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7790268	0.86[AMR][1000 genomes]
rs7792219	0.81[EUR][1000 genomes]
rs7803720	0.89[EUR][1000 genomes]
rs7811093	0.82[EUR][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	nsv519090	chr7:70085934-71071896	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1015261	chr7:70404302-71255933	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:70784000-70808200	Weak transcription	Aorta	Aorta
2	chr7:70787800-70795400	Weak transcription	Ovary	ovary
3	chr7:70790000-70794800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr7:70790200-70794600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:70790800-70794200	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr7:70790800-70794200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr7:70790800-70795800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr7:70790800-70799200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr7:70790800-70804800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr7:70791000-70794600	Enhancers	Fetal Heart	heart
11	chr7:70792000-70794000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr7:70792200-70794200	Weak transcription	HSMM	muscle
13	chr7:70792800-70793800	Enhancers	H1 Cell Line	embryonic stem cell
14	chr7:70793000-70794400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr7:70793000-70794600	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr7:70793000-70794600	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr7:70793200-70794200	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr7:70793200-70794800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr7:70793200-70794800	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr7:70793200-70795000	Enhancers	Fetal Muscle Leg	muscle
21	chr7:70793400-70793800	Weak transcription	Fetal Lung	lung
22	chr7:70793400-70794000	Enhancers	Psoas Muscle	Psoas
23	chr7:70793400-70794600	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr7:70793600-70794000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr7:70793600-70794000	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr7:70793600-70794600	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr7:70793600-70794800	Enhancers	H9 Cell Line	embryonic stem cell
28	chr7:70793600-70802200	Weak transcription	Left Ventricle	heart

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