Variant report

Variant	rs4972830
Chromosome Location	chr2:173281098-173281099
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10183079	1.00[AMR][1000 genomes]
rs11885097	1.00[AMR][1000 genomes]
rs1920983	1.00[AMR][1000 genomes]
rs2884227	1.00[AMR][1000 genomes]
rs4246628	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6433361	1.00[AMR][1000 genomes]
rs6732437	1.00[AMR][1000 genomes]
rs73976752	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533927	chr2:173161637-173796894	Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	nsv875414	chr2:173267081-173307756	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	esv1847874	chr2:173277361-173308318	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173274600-173290200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:173280000-173281400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:173280000-173281600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr2:173280000-173281600	Enhancers	Stomach Mucosa	stomach
5	chr2:173280200-173281200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:173280400-173281200	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr2:173280400-173281400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr2:173280400-173281800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr2:173280600-173281200	Enhancers	Fetal Intestine Small	intestine
10	chr2:173280600-173281200	Enhancers	Fetal Muscle Leg	muscle
11	chr2:173280600-173284600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr2:173280800-173281200	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr2:173281000-173281400	Enhancers	Fetal Kidney	kidney
14	chr2:173281000-173281800	Enhancers	Primary hematopoietic stem cells short term culture	blood

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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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