Variant report

Variant	rs11899757
Chromosome Location	chr2:168343616-168343617
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:168342324..168343828-chr2:168369519..168372114,2	K562	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs1112983	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12105560	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1227120	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1238298	0.88[EUR][1000 genomes]
rs12466695	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12478609	0.82[ASN][1000 genomes]
rs12989813	0.84[ASN][1000 genomes]
rs12990145	0.85[ASN][1000 genomes]
rs12996381	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13032189	0.89[EUR][1000 genomes]
rs1541889	0.86[EUR][1000 genomes]
rs1583217	0.86[ASN][1000 genomes]
rs1653420	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1653425	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1653430	0.90[EUR][1000 genomes]
rs16853634	0.91[ASN][1000 genomes]
rs16853644	0.91[ASN][1000 genomes]
rs16853648	0.87[EUR][1000 genomes]
rs16853653	0.91[ASN][1000 genomes]
rs16853655	0.91[ASN][1000 genomes]
rs16853681	0.85[ASN][1000 genomes]
rs1730713	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1730725	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1813255	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1919851	0.83[ASN][1000 genomes]
rs1919854	0.93[EUR][1000 genomes]
rs1919855	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1983514	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2052982	0.87[ASN][1000 genomes]
rs35523753	0.92[EUR][1000 genomes]
rs35580310	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35827395	0.96[EUR][1000 genomes]
rs4667955	0.86[EUR][1000 genomes]
rs59149606	0.85[ASN][1000 genomes]
rs61416591	0.85[ASN][1000 genomes]
rs6433000	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6710395	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6731834	0.83[ASN][1000 genomes]
rs67321550	0.85[ASN][1000 genomes]
rs67697939	0.90[ASN][1000 genomes]
rs7567362	0.94[EUR][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	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
2	esv3388045	chr2:168289403-168424317	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	nsv834449	chr2:168340043-168511856	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11899757	SP5	cis	parietal	SCAN

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:168337000-168355400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr2:168337200-168348200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:168338200-168348200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr2:168338200-168366000	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr2:168338400-168349400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr2:168338400-168352400	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr2:168340200-168345600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr2:168341600-168352600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr2:168341600-168352800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr2:168341600-168365200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr2:168342000-168345600	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr2:168342200-168343800	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr2:168342200-168352400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr2:168343600-168343800	Enhancers	Fetal Muscle Leg	muscle
15	chr2:168343600-168345200	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr2:168343600-168347600	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr2:168343600-168352400	Weak transcription	H9 Cell Line	embryonic stem cell

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