Variant report

Variant	rs12699004
Chromosome Location	chr7:70607149-70607150
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10253779	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10264354	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10268738	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11762323	1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11769535	1.00[JPT][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12699000	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12699003	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13230586	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34269412	0.92[ASN][1000 genomes]
rs58589178	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6948874	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:70598600-70611200	Weak transcription	Right Atrium	heart
2	chr7:70598800-70611200	Weak transcription	Colon Smooth Muscle	Colon
3	chr7:70599000-70611000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr7:70599600-70609400	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr7:70599600-70611400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr7:70601000-70613600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr7:70601200-70610200	Weak transcription	Ovary	ovary
8	chr7:70603200-70607200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr7:70605000-70607600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
10	chr7:70605000-70608000	Strong transcription	HUES64 Cell Line	embryonic stem cell
11	chr7:70605000-70609600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr7:70605200-70609200	Strong transcription	H1 Cell Line	embryonic stem cell
13	chr7:70605400-70607600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr7:70605600-70608400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr7:70605600-70608600	Weak transcription	Aorta	Aorta
16	chr7:70605600-70610800	Weak transcription	Fetal Muscle Leg	muscle
17	chr7:70605600-70611000	Weak transcription	Left Ventricle	heart
18	chr7:70605600-70611200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr7:70605800-70608600	Weak transcription	Fetal Stomach	stomach
20	chr7:70605800-70610800	Weak transcription	Fetal Muscle Trunk	muscle
21	chr7:70606000-70608000	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr7:70606000-70609000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr7:70606000-70611000	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr7:70606000-70611000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr7:70606200-70611200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr7:70606600-70611000	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr7:70606600-70611000	Weak transcription	Fetal Lung	lung

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