Variant report

Variant	rs511574
Chromosome Location	chr6:12716522-12716523
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs522923	0.86[ASW][hapmap];1.00[CHB][hapmap];0.96[MKK][hapmap];0.93[ASN][1000 genomes]
rs576893	0.87[CHD][hapmap]

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	esv3521000	chr6:12561306-13128519	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv3521001	chr6:12561306-13128519	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:12709000-12722000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:12710400-12718200	Weak transcription	HSMM	muscle
3	chr6:12710600-12718200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr6:12710600-12723400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr6:12710800-12718200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr6:12710800-12729600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr6:12712600-12725000	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr6:12712800-12724800	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr6:12715800-12717000	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr6:12715800-12717000	Enhancers	Brain Germinal Matrix	brain
11	chr6:12716000-12716800	Enhancers	H9 Cell Line	embryonic stem cell
12	chr6:12716200-12716600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
13	chr6:12716200-12716600	Enhancers	Fetal Brain Male	brain
14	chr6:12716200-12716800	Enhancers	H1 Cell Line	embryonic stem cell
15	chr6:12716200-12716800	Enhancers	Fetal Brain Female	brain
16	chr6:12716200-12717000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr6:12716200-12718200	Active TSS	Brain Anterior Caudate	brain
18	chr6:12716400-12718200	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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