Variant report

Variant	rs4699412
Chromosome Location	chr4:96160117-96160118
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:96159441..96161315-chr4:96163065..96165046,2	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10856911	0.84[EUR][1000 genomes]
rs11730446	0.91[CHB][hapmap];0.88[CHD][hapmap];0.83[GIH][hapmap];0.86[JPT][hapmap];0.90[MEX][hapmap];0.93[ASN][1000 genomes]
rs12642020	0.81[CHB][hapmap];0.82[JPT][hapmap];0.83[ASN][1000 genomes]
rs13118653	0.81[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13119920	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1434534	0.81[CEU][hapmap];0.80[GIH][hapmap]
rs17023311	0.92[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2571038	0.80[GIH][hapmap]
rs2865414	0.91[CHB][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];0.86[ASN][1000 genomes]
rs2865415	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs35779969	0.83[ASN][1000 genomes]
rs35780120	0.83[ASN][1000 genomes]
rs3733210	0.96[ASN][1000 genomes]
rs3775002	1.00[CHB][hapmap];0.93[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs3775053	0.82[CHB][hapmap]
rs4254782	0.82[JPT][hapmap]
rs4699413	0.88[CEU][hapmap];0.91[CHB][hapmap];0.82[JPT][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4699414	0.91[CHB][hapmap];0.82[JPT][hapmap];0.85[YRI][hapmap];0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4699415	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs4699836	0.91[CHB][hapmap]
rs4699837	0.88[ASW][hapmap];0.81[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.83[MKK][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62319064	0.90[ASN][1000 genomes]
rs6532537	0.82[JPT][hapmap]
rs6846193	0.86[CHB][hapmap]
rs7434638	0.82[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.96[MKK][hapmap];0.90[TSI][hapmap];0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7439701	0.90[CHB][hapmap];0.81[JPT][hapmap];0.83[ASN][1000 genomes]
rs7440613	1.00[CHB][hapmap];0.86[JPT][hapmap];0.94[ASN][1000 genomes]
rs9637615	0.94[ASW][hapmap];0.91[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs995062	0.80[GIH][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869528	chr4:95537649-96368018	Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv594907	chr4:95975470-96170439	Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv879623	chr4:96123466-96168719	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv879624	chr4:96147860-96183532	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv879625	chr4:96147860-96189813	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:96134600-96176800	Weak transcription	Fetal Stomach	stomach
2	chr4:96140600-96163400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr4:96141600-96163200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr4:96147800-96163600	Weak transcription	Aorta	Aorta
5	chr4:96153200-96189600	Weak transcription	Fetal Kidney	kidney
6	chr4:96153800-96163200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr4:96154400-96163400	Weak transcription	Brain Cingulate Gyrus	brain
8	chr4:96154400-96166200	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr4:96154600-96161800	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr4:96154600-96172000	Weak transcription	Brain Substantia Nigra	brain
11	chr4:96154600-96176800	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr4:96156600-96166200	Weak transcription	Left Ventricle	heart
13	chr4:96159400-96161800	Strong transcription	Fetal Lung	lung
14	chr4:96159800-96160600	ZNF genes & repeats	Brain Hippocampus Middle	brain

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