Variant report

Variant	rs2788995
Chromosome Location	chr6:118230321-118230322
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs13200447	0.84[EUR][1000 genomes]
rs17334264	0.84[EUR][1000 genomes]
rs2476202	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2760227	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2760230	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2760236	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2760237	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2760238	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2760248	0.88[EUR][1000 genomes]
rs2788994	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2788997	1.00[EUR][1000 genomes]
rs2788998	1.00[EUR][1000 genomes]
rs35106048	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs553592	1.00[EUR][1000 genomes]
rs555789	1.00[EUR][1000 genomes]
rs6905222	0.84[EUR][1000 genomes]
rs6942237	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71570870	0.84[EUR][1000 genomes]
rs7745854	0.89[EUR][1000 genomes]
rs7765524	0.87[EUR][1000 genomes]
rs9654611	0.81[AMR][1000 genomes];0.88[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	nsv530526	chr6:118027339-118718476	Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv522455	chr6:118228527-118240685	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:118227400-118230400	Active TSS	Brain Inferior Temporal Lobe	brain
2	chr6:118227800-118230400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr6:118227800-118230400	Active TSS	Brain Cingulate Gyrus	brain
4	chr6:118227800-118230400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
5	chr6:118228000-118230600	Active TSS	Cortex derived primary cultured neurospheres	brain
6	chr6:118228000-118230800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
7	chr6:118228200-118230800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr6:118228800-118230400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
9	chr6:118229400-118230400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
10	chr6:118229600-118231800	Weak transcription	Aorta	Aorta
11	chr6:118229800-118230400	Active TSS	Brain Hippocampus Middle	brain
12	chr6:118229800-118241400	Weak transcription	Gastric	stomach
13	chr6:118230000-118230400	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr6:118230000-118230400	Active TSS	Rectal Smooth Muscle	rectum
15	chr6:118230000-118231000	Active TSS	Fetal Brain Female	brain
16	chr6:118230200-118230400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr6:118230200-118230400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
18	chr6:118230200-118230400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
19	chr6:118230200-118230400	Enhancers	Brain Anterior Caudate	brain
20	chr6:118230200-118230400	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
21	chr6:118230200-118230600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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