Variant report

Variant	rs60603252
Chromosome Location	chr7:70708745-70708746
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11974311	1.00[EUR][1000 genomes]
rs11978503	1.00[EUR][1000 genomes]
rs17522193	0.81[EUR][1000 genomes]
rs17593748	1.00[EUR][1000 genomes]
rs55724524	1.00[EUR][1000 genomes]
rs56344878	1.00[EUR][1000 genomes]
rs58034721	0.88[EUR][1000 genomes]
rs73173986	0.86[EUR][1000 genomes]
rs73173991	0.86[EUR][1000 genomes]
rs73173993	0.86[EUR][1000 genomes]
rs73190450	0.95[EUR][1000 genomes]
rs73190455	1.00[AMR][1000 genomes];1.00[EUR][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	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	nsv1034662	chr7:70275712-70722953	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	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
4	nsv888343	chr7:70641761-70743033	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:70701600-70720400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr7:70702200-70713600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr7:70702200-70719600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr7:70703600-70713800	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr7:70703800-70713600	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr7:70704000-70709800	Weak transcription	Right Ventricle	heart
7	chr7:70704000-70713600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr7:70704200-70708800	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr7:70704200-70708800	Weak transcription	Left Ventricle	heart
10	chr7:70704200-70710200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr7:70704800-70709000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr7:70704800-70709000	Weak transcription	Ovary	ovary
13	chr7:70705000-70708800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr7:70705200-70708800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr7:70705200-70708800	Weak transcription	Fetal Brain Male	brain
16	chr7:70705400-70709200	Weak transcription	HSMMtube	muscle
17	chr7:70706600-70708800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr7:70707200-70713600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr7:70707600-70710600	Enhancers	Fetal Heart	heart
20	chr7:70708200-70710200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr7:70708400-70709400	Enhancers	Fetal Lung	lung
22	chr7:70708600-70709000	Enhancers	Aorta	Aorta
23	chr7:70708600-70709200	Enhancers	Fetal Muscle Trunk	muscle
24	chr7:70708600-70709200	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr7:70708600-70709400	Enhancers	Fetal Muscle Leg	muscle
26	chr7:70708600-70709400	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr7:70708600-70709600	Enhancers	Colon Smooth Muscle	Colon

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