Variant report

Variant	rs73700700
Chromosome Location	chr7:70793941-70793942
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	chr7:70787528..70789669-chr7:70793598..70795128,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11976002	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11978607	0.86[EUR][1000 genomes]
rs11979360	1.00[EUR][1000 genomes]
rs11979633	1.00[EUR][1000 genomes]
rs11979730	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11981382	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17137550	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4236244	0.86[EUR][1000 genomes]
rs55689924	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57060537	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58203463	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs58783760	0.88[ASN][1000 genomes]
rs61211862	1.00[EUR][1000 genomes]
rs61445616	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73358104	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73358107	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73358144	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73358150	1.00[EUR][1000 genomes]
rs73700697	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73700698	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73700699	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73700702	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	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	chr7:70793000-70794400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr7:70793000-70794600	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr7:70793000-70794600	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr7:70793200-70794200	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr7:70793200-70794800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr7:70793200-70794800	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr7:70793200-70795000	Enhancers	Fetal Muscle Leg	muscle
20	chr7:70793400-70794000	Enhancers	Psoas Muscle	Psoas
21	chr7:70793400-70794600	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr7:70793600-70794000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr7:70793600-70794000	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr7:70793600-70794600	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr7:70793600-70794800	Enhancers	H9 Cell Line	embryonic stem cell
26	chr7:70793600-70802200	Weak transcription	Left Ventricle	heart
27	chr7:70793800-70794200	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr7:70793800-70794600	Enhancers	Fetal Lung	lung

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