Variant report

Variant	rs10027855
Chromosome Location	chr4:147304884-147304885
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:147298326..147300509-chr4:147303164..147305825,2	K562	blood:

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

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

rs_ID	r²[population]
rs10000604	0.95[ASN][1000 genomes]
rs10010528	0.87[ASW][hapmap];0.92[CHD][hapmap];0.84[GIH][hapmap];1.00[MEX][hapmap]
rs10020390	1.00[CHB][hapmap];0.86[JPT][hapmap];0.93[ASN][1000 genomes]
rs10031151	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs10032088	0.92[MEX][hapmap]
rs10032409	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs11100924	1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.95[ASN][1000 genomes]
rs11721629	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11725876	1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.95[ASN][1000 genomes]
rs11735261	0.87[ASW][hapmap];0.83[CEU][hapmap]
rs11930791	0.95[ASN][1000 genomes]
rs11944863	0.80[EUR][1000 genomes]
rs11947781	0.92[CHD][hapmap];0.92[GIH][hapmap];0.85[MEX][hapmap]
rs17021440	0.95[ASN][1000 genomes]
rs2630295	0.95[ASN][1000 genomes]
rs2630305	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2679141	1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];0.86[JPT][hapmap];0.93[ASN][1000 genomes]
rs28404149	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28611450	0.98[ASN][1000 genomes]
rs3849035	1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.95[ASN][1000 genomes]
rs4835033	0.92[CHD][hapmap];0.96[GIH][hapmap];1.00[MEX][hapmap]
rs4835035	0.98[ASN][1000 genomes]
rs4835294	0.92[CHD][hapmap];0.96[GIH][hapmap];0.92[MEX][hapmap]
rs4835297	0.85[CHD][hapmap];0.96[GIH][hapmap]
rs4835304	0.95[ASN][1000 genomes]
rs55844140	0.95[ASN][1000 genomes]
rs55971059	0.80[EUR][1000 genomes]
rs6537418	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs66989520	0.81[EUR][1000 genomes]
rs6826676	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs6841790	1.00[CHB][hapmap];0.86[JPT][hapmap];0.98[ASN][1000 genomes]
rs6843145	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.95[ASN][1000 genomes]
rs6846584	0.92[CHD][hapmap];0.96[GIH][hapmap];0.92[MEX][hapmap]
rs6857911	0.92[CHD][hapmap];0.96[GIH][hapmap];0.85[MEX][hapmap]
rs6858794	1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];0.86[JPT][hapmap];0.85[MEX][hapmap];0.93[ASN][1000 genomes]
rs72729847	0.98[ASN][1000 genomes]
rs72729852	0.95[ASN][1000 genomes]
rs9784437	0.92[CHD][hapmap];0.92[GIH][hapmap];0.85[MEX][hapmap]

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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10027855	GYPA	cis	cerebellum	SCAN

Chromatin state (count:8 , 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	chr4:147300600-147328800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr4:147303000-147310400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr4:147303200-147310200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr4:147304800-147305000	Enhancers	Stomach Mucosa	stomach
7	chr4:147304800-147314000	Weak transcription	Gastric	stomach
8	chr4:147304800-147323400	Weak transcription	Psoas Muscle	Psoas

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