Variant report

Variant	rs61749078
Chromosome Location	chr12:9013771-9013772
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs7132096	1.00[AMR][1000 genomes]
rs7138661	1.00[AMR][1000 genomes]
rs7957548	1.00[AMR][1000 genomes]
rs7968986	1.00[AMR][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	nsv1049949	chr12:9008609-9049198	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	esv3693107	chr12:9010671-9013783	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:8982200-9022000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr12:8983400-9017600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr12:8987600-9040000	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr12:8994800-9016600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr12:8996000-9040000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr12:8998800-9014600	Weak transcription	Right Atrium	heart
7	chr12:8999000-9016400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr12:9005200-9017800	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr12:9007000-9029600	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr12:9007200-9027600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr12:9011800-9021600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr12:9011800-9029800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr12:9012600-9020400	Weak transcription	Esophagus	oesophagus
14	chr12:9012800-9013800	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr12:9013000-9013800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr12:9013600-9019200	Weak transcription	K562	blood
17	chr12:9013600-9029400	Weak transcription	HUES48 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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