Variant report

Variant	rs2617383
Chromosome Location	chr2:168252739-168252740
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 123 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:119)

rs_ID	r²[population]
rs10169923	0.81[EUR][1000 genomes]
rs10177399	0.90[EUR][1000 genomes]
rs10183035	0.81[EUR][1000 genomes]
rs10186995	0.81[EUR][1000 genomes]
rs10187544	0.83[EUR][1000 genomes]
rs10193628	0.81[EUR][1000 genomes]
rs10198766	0.84[ASN][1000 genomes]
rs10203387	0.83[EUR][1000 genomes]
rs10205907	0.81[EUR][1000 genomes]
rs10206206	0.81[EUR][1000 genomes]
rs10206412	0.81[EUR][1000 genomes]
rs10803824	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10803825	0.88[ASN][1000 genomes]
rs10930268	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10930270	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12104569	0.90[EUR][1000 genomes]
rs12620530	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12692859	0.90[EUR][1000 genomes]
rs12995201	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13405810	0.81[EUR][1000 genomes]
rs13413030	0.81[EUR][1000 genomes]
rs13419259	0.83[EUR][1000 genomes]
rs1357600	0.84[ASN][1000 genomes]
rs1357601	0.84[ASN][1000 genomes]
rs1357605	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1357606	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1357607	0.89[ASN][1000 genomes]
rs1382318	0.90[EUR][1000 genomes]
rs1403891	0.88[ASN][1000 genomes]
rs1403892	0.88[ASN][1000 genomes]
rs1403895	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1403896	0.81[ASN][1000 genomes]
rs1403897	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1403898	0.90[EUR][1000 genomes]
rs1403899	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1403903	0.89[ASN][1000 genomes]
rs1478384	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1478385	0.90[EUR][1000 genomes]
rs1523881	0.84[ASN][1000 genomes]
rs1523882	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1523883	0.81[EUR][1000 genomes]
rs1523888	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1523889	0.88[ASN][1000 genomes]
rs1568747	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1608519	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1608520	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1916745	0.84[ASN][1000 genomes]
rs1916748	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1916749	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1916750	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1916751	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1996949	0.90[EUR][1000 genomes]
rs2030655	0.81[ASN][1000 genomes]
rs2030656	0.81[ASN][1000 genomes]
rs2030657	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2091100	0.88[ASN][1000 genomes]
rs2140499	0.84[ASN][1000 genomes]
rs2177442	0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2204280	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2222504	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2250619	0.90[EUR][1000 genomes]
rs2263240	0.88[ASN][1000 genomes]
rs2617365	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2617379	0.88[ASN][1000 genomes]
rs2617380	0.88[ASN][1000 genomes]
rs2617381	0.88[ASN][1000 genomes]
rs2617386	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2617388	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2617391	0.90[EUR][1000 genomes]
rs2617393	0.90[EUR][1000 genomes]
rs2617394	0.90[EUR][1000 genomes]
rs2617398	0.90[EUR][1000 genomes]
rs2617399	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2617400	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2689819	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2689820	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2689825	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2689826	0.90[EUR][1000 genomes]
rs2689827	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2689828	0.90[EUR][1000 genomes]
rs2689829	0.81[EUR][1000 genomes]
rs2689832	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2689833	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2689849	0.89[ASN][1000 genomes]
rs2689850	0.89[ASN][1000 genomes]
rs2689851	0.89[ASN][1000 genomes]
rs2689853	0.88[ASN][1000 genomes]
rs2689854	0.88[ASN][1000 genomes]
rs2927602	0.88[ASN][1000 genomes]
rs2949009	0.90[EUR][1000 genomes]
rs2949010	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4667949	0.90[EUR][1000 genomes]
rs56875650	0.90[EUR][1000 genomes]
rs57979918	0.90[EUR][1000 genomes]
rs6704984	0.81[ASN][1000 genomes]
rs6720269	0.84[EUR][1000 genomes]
rs6721252	0.84[EUR][1000 genomes]
rs6721528	0.81[EUR][1000 genomes]
rs6722016	0.90[EUR][1000 genomes]
rs6725730	0.84[EUR][1000 genomes]
rs6726976	0.81[EUR][1000 genomes]
rs6729076	0.84[EUR][1000 genomes]
rs6731777	0.90[EUR][1000 genomes]
rs6739277	0.85[EUR][1000 genomes]
rs6747227	0.80[CEU][hapmap]
rs6747599	0.83[EUR][1000 genomes]
rs6754396	0.90[EUR][1000 genomes]
rs6756322	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6759384	0.81[ASN][1000 genomes]
rs73023882	0.84[EUR][1000 genomes]
rs7558831	0.84[EUR][1000 genomes]
rs7567369	0.84[EUR][1000 genomes]
rs7576187	0.90[EUR][1000 genomes]
rs7585935	0.84[EUR][1000 genomes]
rs7594125	0.87[EUR][1000 genomes]
rs899185	0.90[EUR][1000 genomes]
rs940314	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs940315	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs998015	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875378	chr2:168107491-168297961	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
2	esv3364733	chr2:168109919-168302141	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
3	nsv431790	chr2:168217873-168273530	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv491872	chr2:168220323-168737986	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:168242200-168255200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr2:168246200-168259000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr2:168246800-168263000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:168247800-168253600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr2:168251200-168254400	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr2:168251200-168254400	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr2:168251600-168253600	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr2:168251600-168254400	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr2:168252000-168254600	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr2:168252000-168255200	Weak transcription	Psoas Muscle	Psoas
11	chr2:168252200-168254400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr2:168252600-168253000	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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