Variant report

Variant	rs1553844
Chromosome Location	chr2:127692912-127692913
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10168813	0.88[ASN][1000 genomes]
rs10803617	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10803618	0.84[ASN][1000 genomes]
rs12053575	0.84[ASN][1000 genomes]
rs12620265	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12692123	0.88[ASN][1000 genomes]
rs1553845	0.94[ASN][1000 genomes]
rs1912498	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28758224	0.88[ASN][1000 genomes]
rs4662692	0.94[ASN][1000 genomes]
rs4662695	0.84[ASN][1000 genomes]
rs4662696	0.84[ASN][1000 genomes]
rs4662698	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4662699	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4663070	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4663075	0.84[ASN][1000 genomes]
rs4663076	0.84[ASN][1000 genomes]
rs4663077	0.84[ASN][1000 genomes]
rs4663079	0.84[ASN][1000 genomes]
rs4663080	0.84[ASN][1000 genomes]
rs4663081	0.84[ASN][1000 genomes]
rs4663082	0.84[ASN][1000 genomes]
rs4663083	0.84[ASN][1000 genomes]
rs6431201	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6431206	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6431207	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6431208	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6431209	0.84[ASN][1000 genomes]
rs6431210	0.84[ASN][1000 genomes]
rs6732056	0.90[ASN][1000 genomes]
rs6736826	0.90[ASN][1000 genomes]
rs6749935	0.84[ASN][1000 genomes]
rs6753685	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72976756	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72980853	1.00[EUR][1000 genomes]
rs72980861	1.00[EUR][1000 genomes]
rs73952788	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73952789	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7419804	0.84[ASN][1000 genomes]
rs7420039	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7423317	0.84[ASN][1000 genomes]
rs7424763	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7556956	0.84[ASN][1000 genomes]
rs7557069	0.84[ASN][1000 genomes]
rs7565248	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7590060	0.88[ASN][1000 genomes]
rs870468	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002265	chr2:127029745-127733458	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv535919	chr2:127029745-127733458	Strong transcription Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv999422	chr2:127464647-127956543	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv1004930	chr2:127477369-127938234	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv834365	chr2:127616996-127793863	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv834366	chr2:127633714-127784692	Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	esv1797936	chr2:127653376-127717477	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	esv1800233	chr2:127653376-127717477	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	esv1823816	chr2:127653376-127717477	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	esv1828473	chr2:127653376-127717477	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	esv1830542	chr2:127653376-127717477	Enhancers Strong transcription Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	esv1837532	chr2:127653376-127717477	Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
13	esv1838997	chr2:127653376-127717477	Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
14	esv1843412	chr2:127653376-127717477	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
15	esv1846050	chr2:127653376-127717477	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
16	esv1837056	chr2:127665641-127704870	Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
17	esv1839391	chr2:127665641-127704870	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
18	nsv2907	chr2:127669532-127709321	Weak transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:127690600-127693400	Enhancers	Fetal Muscle Trunk	muscle
2	chr2:127692600-127693400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:127692800-127693800	Weak transcription	Fetal Muscle Leg	muscle
4	chr2:127692800-127697400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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