Variant report

Variant	rs223358
Chromosome Location	chr4:103770794-103770795
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:103770498..103773178-chr4:103786218..103788263,2	K562	blood:
2	chr4:103770002..103772196-chr4:103773207..103775445,3	K562	blood:
3	chr4:103763663..103765375-chr4:103769517..103772269,2	K562	blood:
4	chr4:103748010..103751949-chr4:103768515..103772820,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000109332	Chromatin interaction
ENSG00000246560	Chromatin interaction

Extended variants
information (count: 112 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:110)

rs_ID	r²[population]
rs10003326	0.96[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap]
rs10012413	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10015289	0.96[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap]
rs1080081	0.88[CEU][hapmap];0.83[CHB][hapmap]
rs11097796	0.92[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap]
rs11722779	0.96[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap]
rs11731885	0.96[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap]
rs11737544	0.93[CEU][hapmap];0.95[CHB][hapmap];0.87[JPT][hapmap]
rs12500379	0.96[CEU][hapmap];0.95[CHB][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap]
rs12508069	0.96[CEU][hapmap];0.95[CHB][hapmap];0.87[JPT][hapmap]
rs13130741	0.92[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap]
rs13150426	0.93[CEU][hapmap];0.87[CHB][hapmap];0.91[JPT][hapmap]
rs1383733	0.92[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap]
rs150893	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs150895	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs17033381	0.96[CEU][hapmap];0.95[CHB][hapmap];0.87[JPT][hapmap]
rs2086499	0.91[CEU][hapmap];0.85[CHB][hapmap];0.86[JPT][hapmap]
rs223308	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs223313	0.88[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap]
rs223314	1.00[CEU][hapmap]
rs223315	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs223318	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs223324	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs223326	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs223330	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs223334	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs223338	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs223339	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs223346	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs223347	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs223349	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs223350	0.91[CHB][hapmap];0.95[JPT][hapmap]
rs223353	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs223356	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs223359	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs223363	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs223367	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs223381	1.00[CEU][hapmap]
rs223383	0.96[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap]
rs223385	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs223390	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs223392	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs223395	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap]
rs223397	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs223400	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs223401	0.95[JPT][hapmap]
rs223410	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs223412	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs223418	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs223419	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs223420	0.88[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs223425	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs223438	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs223441	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs223446	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs223447	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs223448	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs223450	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs223452	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs223454	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs223457	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs223458	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs223461	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs223467	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs223474	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs223475	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs223484	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs223486	0.92[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap]
rs223497	0.89[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.89[YRI][hapmap]
rs223498	1.00[YRI][hapmap]
rs227368	1.00[YRI][hapmap]
rs227375	1.00[YRI][hapmap]
rs28445579	0.92[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap]
rs2866417	0.93[CEU][hapmap];0.91[CHB][hapmap];0.87[JPT][hapmap]
rs3774987	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3886722	0.93[CEU][hapmap]
rs3886723	0.92[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap]
rs3974485	0.93[CEU][hapmap];0.95[CHB][hapmap];0.87[JPT][hapmap]
rs3974604	0.96[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap]
rs3974608	0.93[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap]
rs4623004	0.92[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap]
rs4698874	0.92[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap]
rs4699049	0.92[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap]
rs5028609	0.93[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap]
rs6419160	0.92[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap]
rs6533041	0.93[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap]
rs6533050	0.92[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap]
rs6533051	0.92[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap]
rs6533052	0.92[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap]
rs65671	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs6810668	0.92[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap]
rs6823625	0.96[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap]
rs6824070	0.96[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap]
rs6842179	0.96[CEU][hapmap];0.91[CHB][hapmap];0.87[JPT][hapmap]
rs6846762	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6852141	0.96[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap]
rs6853193	0.96[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap]
rs724447	0.96[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap]
rs7254	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7660298	0.92[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap]
rs7663876	0.93[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap]
rs7672319	0.92[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap]
rs7676765	0.96[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap]
rs7676943	0.93[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap]
rs7681629	0.96[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap]
rs7685399	0.92[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap]
rs7694724	0.92[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap]
rs7698608	0.92[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap]
rs9307281	0.95[CHB][hapmap];0.91[JPT][hapmap]
rs9999303	0.96[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv594957	chr4:103728010-103870091	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
2	esv1802717	chr4:103765156-103870091	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs223358	CISD2	cis	multi-tissue	Pritchard
rs223358	KRT8P46	cis	lung	GTEx
rs223358	MANBA	cis	multi-tissue	Pritchard
rs223358	CISD2	cis	Esophagus Muscularis	GTEx
rs223358	LRRC37A15P	cis	lung	GTEx
rs223358	MANBA	Cis_1M	lymphoblastoid	RTeQTL
rs223358	CISD2	cis	Nerve Tibial	GTEx
rs223358	CISD2	Cis_1M	lymphoblastoid	RTeQTL
rs223358	CISD2	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:103750600-103771200	Weak transcription	Brain Angular Gyrus	brain
2	chr4:103750800-103771400	Weak transcription	Primary hematopoietic stem cells	blood
3	chr4:103750800-103788000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr4:103751600-103780200	Weak transcription	Dnd41	blood
5	chr4:103753600-103776000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr4:103754000-103770800	Weak transcription	K562	blood
7	chr4:103758200-103771200	Weak transcription	A549	lung
8	chr4:103760200-103772200	Weak transcription	Primary T cells from cord blood	blood
9	chr4:103761600-103779800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr4:103763400-103771400	Weak transcription	Fetal Stomach	stomach
11	chr4:103765000-103783600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr4:103765200-103780000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr4:103765400-103788800	Weak transcription	Left Ventricle	heart
14	chr4:103768600-103781800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr4:103769200-103772000	Weak transcription	Fetal Thymus	thymus

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