Variant report

Variant	rs73055953
Chromosome Location	chr2:206336493-206336494
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11897011	1.00[ASN][1000 genomes]
rs1207413	1.00[ASN][1000 genomes]
rs13389747	1.00[ASN][1000 genomes]
rs13409214	1.00[ASN][1000 genomes]
rs13409417	1.00[ASN][1000 genomes]
rs16837235	1.00[ASN][1000 genomes]
rs2001527	1.00[ASN][1000 genomes]
rs2137177	1.00[ASN][1000 genomes]
rs28582277	1.00[ASN][1000 genomes]
rs59617257	1.00[ASN][1000 genomes]
rs59629925	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6745571	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6760161	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73055947	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73058323	1.00[ASN][1000 genomes]
rs7591617	1.00[ASN][1000 genomes]
rs849192	1.00[ASN][1000 genomes]
rs849196	1.00[ASN][1000 genomes]
rs849204	1.00[ASN][1000 genomes]
rs849205	1.00[ASN][1000 genomes]
rs849212	1.00[ASN][1000 genomes]
rs849213	1.00[ASN][1000 genomes]
rs849268	1.00[ASN][1000 genomes]
rs861066	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012780	chr2:206124954-206546271	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv584244	chr2:206247450-206378392	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	esv10162	chr2:206272092-206525287	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv19770	chr2:206283097-206671319	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	esv2751840	chr2:206314671-206512921	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv1007821	chr2:206333129-206465451	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:206328600-206339000	Weak transcription	HSMM	muscle
2	chr2:206328800-206336600	Weak transcription	Fetal Muscle Leg	muscle
3	chr2:206334800-206337000	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr2:206335000-206337200	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr2:206335000-206337400	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr2:206335400-206336600	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr2:206335600-206336600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr2:206336000-206337000	Enhancers	H1 Cell Line	embryonic stem cell
9	chr2:206336400-206336800	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr2:206336400-206336800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr2:206336400-206337000	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr2:206336400-206337000	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr2:206336400-206337200	Enhancers	iPS-20b Cell Line	embryonic stem cell

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