Variant report

Variant	rs6997249
Chromosome Location	chr8:130496365-130496366
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1835844	0.91[ASN][1000 genomes]
rs28538623	0.85[EUR][1000 genomes]
rs7000768	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs999877	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015611	chr8:130449321-130502086	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130490200-130503400	Weak transcription	Dnd41	blood
2	chr8:130492600-130496600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:130492800-130496600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr8:130492800-130496800	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr8:130492800-130496800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr8:130492800-130497000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr8:130492800-130497200	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr8:130493000-130496400	Weak transcription	Fetal Muscle Trunk	muscle
9	chr8:130493000-130496800	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr8:130493000-130496800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr8:130493000-130496800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr8:130493000-130497000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr8:130493000-130497000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr8:130493400-130496800	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr8:130493400-130497200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr8:130493600-130497000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr8:130493800-130497200	Weak transcription	Colon Smooth Muscle	Colon
18	chr8:130495600-130497000	Enhancers	Monocytes-CD14+_RO01746	blood
19	chr8:130495600-130497600	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr8:130495600-130499600	Genic enhancers	K562	blood

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