Variant report

Variant	rs1385847
Chromosome Location	chr4:147299995-147299996
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	chr4:147277196..147280652-chr4:147297351..147300192,3	K562	blood:
2	chr4:147298326..147300509-chr4:147303164..147305825,2	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10012766	0.87[AFR][1000 genomes]
rs10050271	0.81[CEU][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10212747	0.81[CEU][hapmap];0.82[JPT][hapmap];0.92[MEX][hapmap];0.86[TSI][hapmap];0.85[EUR][1000 genomes]
rs11100922	0.81[CEU][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12374207	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12645587	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13109522	0.83[EUR][1000 genomes]
rs13117626	0.85[EUR][1000 genomes]
rs13143634	0.82[CEU][hapmap];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13145434	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs13145931	0.87[AFR][1000 genomes]
rs13147293	0.87[AFR][1000 genomes]
rs1485953	0.82[CEU][hapmap];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17021447	0.88[ASW][hapmap];0.85[LWK][hapmap];0.87[MKK][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs2062436	0.87[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];0.92[MEX][hapmap];0.84[TSI][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2062438	0.81[CEU][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2357078	0.84[EUR][1000 genomes]
rs2630295	0.86[AFR][1000 genomes]
rs2630305	0.96[YRI][hapmap];0.83[AFR][1000 genomes]
rs2679141	0.82[ASW][hapmap];0.83[LWK][hapmap];0.96[YRI][hapmap];0.83[AFR][1000 genomes]
rs2679144	0.88[ASW][hapmap];0.98[LWK][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes]
rs3849033	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3849034	0.94[ASW][hapmap];0.85[LWK][hapmap];0.87[MKK][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs3899576	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4103543	0.81[CEU][hapmap];0.95[JPT][hapmap];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6537414	0.83[EUR][1000 genomes]
rs6537417	0.81[CEU][hapmap];0.87[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];0.92[MEX][hapmap];0.88[TSI][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6537418	0.88[YRI][hapmap]
rs6844812	0.81[CEU][hapmap];0.95[JPT][hapmap];0.86[EUR][1000 genomes]
rs6849067	0.83[EUR][1000 genomes]
rs7689364	0.81[CEU][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs923166	0.81[CEU][hapmap];0.82[JPT][hapmap];0.92[MEX][hapmap];0.81[TSI][hapmap];0.83[EUR][1000 genomes]
rs962628	0.81[CEU][hapmap];0.95[JPT][hapmap];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9991483	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv461675	chr4:147116864-147768206	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription 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	11 gene(s)	inside rSNPs	diseases
2	nsv595651	chr4:147116864-147768206	Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv1033640	chr4:147232217-147531881	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
4	nsv917053	chr4:147265436-147499653	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1023868	chr4:147265443-147531626	Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
6	nsv537293	chr4:147265443-147531626	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:147277400-147314200	Weak transcription	Left Ventricle	heart
2	chr4:147283000-147332200	Weak transcription	Primary B cells from cord blood	blood
3	chr4:147291800-147300400	Weak transcription	Stomach Mucosa	stomach
4	chr4:147296400-147300200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr4:147298600-147302400	Weak transcription	GM12878-XiMat	blood
6	chr4:147299200-147300400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr4:147299800-147300600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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