Variant report

Variant	rs12699000
Chromosome Location	chr7:70599595-70599596
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10253779	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10256742	0.83[ASN][1000 genomes]
rs10264354	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10268738	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11762323	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11769535	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12699003	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12699004	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13230586	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13244855	0.83[ASN][1000 genomes]
rs2003150	0.83[ASN][1000 genomes]
rs28455133	0.83[ASN][1000 genomes]
rs28635889	0.83[ASN][1000 genomes]
rs34269412	1.00[ASN][1000 genomes]
rs58589178	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6944205	0.83[ASN][1000 genomes]
rs6948874	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6970194	0.83[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:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:70595800-70599600	Active TSS	Brain Inferior Temporal Lobe	brain
2	chr7:70596000-70599600	Active TSS	Brain Angular Gyrus	brain
3	chr7:70598600-70611200	Weak transcription	Right Atrium	heart
4	chr7:70598800-70599600	Flanking Active TSS	H9 Cell Line	embryonic stem cell
5	chr7:70598800-70599600	Enhancers	Fetal Heart	heart
6	chr7:70598800-70599800	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr7:70598800-70600200	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr7:70598800-70605000	Weak transcription	Aorta	Aorta
9	chr7:70598800-70611200	Weak transcription	Colon Smooth Muscle	Colon
10	chr7:70599000-70599600	Flanking Active TSS	H1 Cell Line	embryonic stem cell
11	chr7:70599000-70599600	Active TSS	Brain Cingulate Gyrus	brain
12	chr7:70599000-70599600	Bivalent Enhancer	Fetal Brain Male	brain
13	chr7:70599000-70599600	Enhancers	Pancreas	Pancrea
14	chr7:70599000-70599800	Active TSS	HUES64 Cell Line	embryonic stem cell
15	chr7:70599000-70600400	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr7:70599000-70611000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr7:70599200-70599600	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
18	chr7:70599200-70600400	Weak transcription	Left Ventricle	heart
19	chr7:70599200-70600400	Weak transcription	Right Ventricle	heart
20	chr7:70599200-70601200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
21	chr7:70599400-70599600	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr7:70599400-70599600	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr7:70599400-70599600	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr7:70599400-70599600	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
25	chr7:70599400-70599600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
26	chr7:70599400-70599600	Active TSS	Fetal Brain Female	brain
27	chr7:70599400-70599600	Flanking Active TSS	Ovary	ovary
28	chr7:70599400-70599800	Enhancers	Brain Anterior Caudate	brain
29	chr7:70599400-70601400	Bivalent Enhancer	Fetal Muscle Leg	muscle
30	chr7:70599400-70605000	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr7:70599400-70605400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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