Variant report

Variant	rs4432412
Chromosome Location	chr2:182069079-182069080
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:182067091..182069385-chr2:182080584..182082731,2	K562	blood:

Extended variants
information (count: 54 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10171108	0.85[JPT][hapmap]
rs10171998	0.85[JPT][hapmap]
rs10187842	0.85[JPT][hapmap]
rs10930950	0.85[JPT][hapmap]
rs11678840	0.92[ASN][1000 genomes]
rs11684463	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11891215	0.80[EUR][1000 genomes]
rs11893821	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12999974	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs13002424	0.98[ASN][1000 genomes]
rs13020845	1.00[JPT][hapmap];0.80[MEX][hapmap]
rs13025711	0.80[AMR][1000 genomes]
rs13029217	0.93[ASN][1000 genomes]
rs13033038	0.83[ASN][1000 genomes]
rs13033467	0.84[AMR][1000 genomes]
rs13035276	0.98[ASN][1000 genomes]
rs34366526	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34601234	0.80[EUR][1000 genomes]
rs34700861	0.98[ASN][1000 genomes]
rs34714467	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs34790351	0.98[ASN][1000 genomes]
rs35110674	0.98[ASN][1000 genomes]
rs35190308	0.98[ASN][1000 genomes]
rs35250663	0.97[ASN][1000 genomes]
rs35543145	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4514840	0.84[ASN][1000 genomes]
rs4990275	0.85[JPT][hapmap]
rs55900432	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs55954384	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs56085338	0.98[ASN][1000 genomes]
rs59395276	0.80[AMR][1000 genomes]
rs6433883	0.85[JPT][hapmap]
rs6433892	0.81[CEU][hapmap]
rs6706397	0.85[JPT][hapmap];0.80[MEX][hapmap];0.85[TSI][hapmap]
rs6709702	0.98[ASN][1000 genomes]
rs6710650	0.82[CEU][hapmap];0.85[JPT][hapmap]
rs6713632	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6744130	0.85[JPT][hapmap]
rs6745190	0.85[JPT][hapmap]
rs6746347	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6752921	0.98[ASN][1000 genomes]
rs6759865	0.84[AMR][1000 genomes]
rs7371639	0.85[JPT][hapmap]
rs7558428	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7566256	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7566434	0.80[EUR][1000 genomes]
rs7569991	0.82[CEU][hapmap];0.85[JPT][hapmap];0.80[MEX][hapmap];0.87[TSI][hapmap]
rs7592486	0.80[EUR][1000 genomes]
rs7598010	0.87[ASN][1000 genomes]
rs7598960	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs9808318	0.82[JPT][hapmap]

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	nsv431824	chr2:181946115-182118559	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv1005870	chr2:181968637-182921439	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv536063	chr2:181968637-182921439	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4432412	NCKAP1	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:182064800-182072800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr2:182065400-182072800	Weak transcription	Thymus	Thymus
3	chr2:182066600-182069800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr2:182066600-182072800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr2:182067000-182069400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr2:182067000-182069400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr2:182068000-182069200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr2:182068000-182069200	Enhancers	HSMM	muscle
9	chr2:182068400-182071200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr2:182068600-182069400	Enhancers	Muscle Satellite Cultured Cells	--
11	chr2:182068600-182071000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr2:182068800-182071600	ZNF genes & repeats	Dnd41	blood

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