Variant report

Variant	rs6713750
Chromosome Location	chr2:114115374-114115375
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1191682	0.94[EUR][1000 genomes]
rs1191684	0.93[EUR][1000 genomes]
rs1191685	0.93[EUR][1000 genomes]
rs1191687	0.93[EUR][1000 genomes]
rs1838853	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[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	esv2757826	chr2:114074949-114253780	Enhancers Strong transcription Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	esv2759085	chr2:114074949-114428678	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 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	chr2:114099400-114116000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:114101800-114116000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr2:114106800-114129800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:114108600-114116200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr2:114110600-114124600	Weak transcription	A549	lung
6	chr2:114113600-114116200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:114113600-114116400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr2:114113800-114116200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr2:114114000-114116000	Weak transcription	Fetal Muscle Leg	muscle
10	chr2:114114000-114116600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:114114200-114115400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr2:114114400-114122600	Weak transcription	Fetal Intestine Small	intestine
13	chr2:114114800-114115600	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr2:114114800-114115600	Enhancers	Brain Germinal Matrix	brain
15	chr2:114114800-114117400	Enhancers	NHEK	skin
16	chr2:114115000-114115800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr2:114115000-114117600	Enhancers	HMEC	breast
18	chr2:114115200-114117000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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Input of quick search could be:

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

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