Variant report

Variant	rs4699837
Chromosome Location	chr4:96170439-96170440
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	chr4:96169064..96170842-chr4:96173407..96175088,2	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10856911	0.93[EUR][1000 genomes]
rs11730446	0.90[CHB][hapmap];0.83[CHD][hapmap];0.86[JPT][hapmap];0.90[MEX][hapmap];0.91[ASN][1000 genomes]
rs11737434	0.85[CHB][hapmap]
rs12513212	0.85[CEU][hapmap]
rs12642020	0.90[CHB][hapmap];0.81[JPT][hapmap];0.83[ASN][1000 genomes]
rs13118653	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13119920	0.83[ASN][1000 genomes]
rs1434534	0.92[CEU][hapmap];0.85[GIH][hapmap];0.90[TSI][hapmap];0.81[EUR][1000 genomes]
rs17023311	1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1865378	0.86[MEX][hapmap]
rs2571037	0.84[CEU][hapmap]
rs2571038	0.88[CEU][hapmap];0.85[GIH][hapmap];0.90[TSI][hapmap];0.81[EUR][1000 genomes]
rs2621449	0.81[EUR][1000 genomes]
rs2621450	0.87[CEU][hapmap];0.81[EUR][1000 genomes]
rs2865383	0.84[CEU][hapmap]
rs2865414	1.00[CHB][hapmap];0.81[CHD][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];0.88[ASN][1000 genomes]
rs2865415	0.90[CHB][hapmap];0.82[JPT][hapmap]
rs35779969	0.83[ASN][1000 genomes]
rs35780120	0.83[ASN][1000 genomes]
rs3733210	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3775002	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.82[TSI][hapmap];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3775051	0.88[CEU][hapmap]
rs3775053	0.90[CHB][hapmap]
rs4254782	0.81[CHB][hapmap];0.82[JPT][hapmap]
rs4419475	0.84[EUR][1000 genomes]
rs4699412	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]
rs4699413	1.00[CHB][hapmap];0.82[JPT][hapmap];0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4699414	0.84[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.84[ASN][1000 genomes]
rs4699415	0.84[CEU][hapmap];0.90[CHB][hapmap];0.82[JPT][hapmap];0.81[AMR][1000 genomes]
rs4699836	1.00[CHB][hapmap]
rs62319064	0.88[ASN][1000 genomes]
rs6532537	0.82[JPT][hapmap]
rs6846193	0.80[CEU][hapmap];0.90[CHB][hapmap]
rs7434638	0.82[ASW][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];0.95[MEX][hapmap];0.82[MKK][hapmap];0.82[YRI][hapmap];0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7439701	1.00[CHB][hapmap];0.81[JPT][hapmap];0.84[ASN][1000 genomes]
rs7440613	1.00[CHB][hapmap];0.86[JPT][hapmap];0.92[ASN][1000 genomes]
rs9637615	0.94[ASW][hapmap];0.90[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.97[TSI][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs995062	0.84[CEU][hapmap];0.87[GIH][hapmap];0.82[TSI][hapmap]

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	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	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
4	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:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:96134600-96176800	Weak transcription	Fetal Stomach	stomach
2	chr4:96153200-96189600	Weak transcription	Fetal Kidney	kidney
3	chr4:96154600-96172000	Weak transcription	Brain Substantia Nigra	brain
4	chr4:96154600-96176800	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr4:96162000-96176800	Weak transcription	Brain Anterior Caudate	brain
6	chr4:96163800-96177200	Weak transcription	Aorta	Aorta
7	chr4:96164000-96171200	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr4:96164000-96177000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr4:96166400-96172400	Weak transcription	Spleen	Spleen
10	chr4:96166400-96177200	Weak transcription	Left Ventricle	heart
11	chr4:96168200-96170800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr4:96169400-96171200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr4:96169400-96171800	Weak transcription	Brain Angular Gyrus	brain
14	chr4:96169600-96171800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr4:96169800-96171400	Strong transcription	Fetal Lung	lung
16	chr4:96169800-96172000	Weak transcription	Brain Hippocampus Middle	brain
17	chr4:96170000-96171400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr4:96170200-96171400	Strong transcription	Brain Cingulate Gyrus	brain
19	chr4:96170400-96170600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr4:96170400-96170600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr4:96170400-96171400	Flanking Active TSS	K562	blood

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