Variant report

Variant	rs2140499
Chromosome Location	chr2:168275264-168275265
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:168269906..168271420-chr2:168274025..168275558,2	K562	blood:

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs10198766	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs10803824	0.86[ASN][1000 genomes]
rs10803825	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10930270	0.83[ASN][1000 genomes]
rs10930271	0.80[AMR][1000 genomes]
rs1357600	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1357601	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1357605	0.84[ASN][1000 genomes]
rs1357606	0.84[ASN][1000 genomes]
rs1357607	0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1403891	0.96[ASN][1000 genomes]
rs1403892	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1403893	0.80[AMR][1000 genomes]
rs1403896	0.89[ASN][1000 genomes]
rs1403897	0.83[ASN][1000 genomes]
rs1403899	0.83[ASN][1000 genomes]
rs1403903	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1478384	0.83[ASN][1000 genomes]
rs1523881	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1523888	0.86[ASN][1000 genomes]
rs1523889	0.80[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1568747	0.83[ASN][1000 genomes]
rs1608519	0.83[ASN][1000 genomes]
rs1608520	0.83[ASN][1000 genomes]
rs1880171	0.80[AMR][1000 genomes]
rs1916744	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs1916745	0.98[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1916748	0.83[ASN][1000 genomes]
rs1916749	0.83[ASN][1000 genomes]
rs1916750	0.83[ASN][1000 genomes]
rs1916751	0.83[ASN][1000 genomes]
rs2030655	0.89[ASN][1000 genomes]
rs2030656	0.89[ASN][1000 genomes]
rs2091100	0.96[ASN][1000 genomes]
rs2140500	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs2177442	0.83[ASN][1000 genomes]
rs2204278	0.80[AMR][1000 genomes]
rs2222504	0.86[ASN][1000 genomes]
rs2263240	0.80[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2617379	0.80[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2617380	0.96[ASN][1000 genomes]
rs2617381	0.80[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2617383	0.84[ASN][1000 genomes]
rs2617386	0.83[ASN][1000 genomes]
rs2617388	0.83[ASN][1000 genomes]
rs2689820	0.83[ASN][1000 genomes]
rs2689832	0.83[ASN][1000 genomes]
rs2689833	0.83[ASN][1000 genomes]
rs2689845	0.87[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs2689846	0.87[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs2689847	0.80[AMR][1000 genomes]
rs2689849	0.94[ASN][1000 genomes]
rs2689850	0.94[ASN][1000 genomes]
rs2689851	0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2689853	0.96[ASN][1000 genomes]
rs2689854	0.96[ASN][1000 genomes]
rs2689855	0.85[AFR][1000 genomes]
rs2927602	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2949010	0.83[ASN][1000 genomes]
rs4363998	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs6704984	0.89[ASN][1000 genomes]
rs6725171	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs6729570	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs6747382	0.80[AMR][1000 genomes]
rs6756997	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs6759323	0.81[ASN][1000 genomes]
rs6759384	0.89[ASN][1000 genomes]
rs998015	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[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	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
4	esv2760556	chr2:168259049-168283244	Enhancers Genic enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:168263600-168278200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:168266000-168277400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr2:168273200-168278000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr2:168273200-168279000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr2:168273400-168278200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr2:168273800-168275600	Enhancers	Psoas Muscle	Psoas
7	chr2:168274400-168278200	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr2:168274800-168275400	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr2:168275000-168276200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr2:168275000-168277000	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr2:168275000-168277200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr2:168275000-168278400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr2:168275200-168277000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr2:168275200-168277800	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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