Variant report

Variant	rs223461
Chromosome Location	chr4:103703529-103703530
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:103680520..103682629-chr4:103701123..103703574,2	MCF-7	breast:
2	chr4:103702526..103704936-chr4:103749468..103751698,3	K562	blood:

Variant related genes	Relation type
ENSG00000109323	Chromatin interaction

Extended variants
information (count: 75 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs10003326	0.93[CEU][hapmap];0.92[CHB][hapmap];0.90[JPT][hapmap]
rs10012413	0.96[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap]
rs11722779	0.93[CEU][hapmap];0.92[CHB][hapmap];0.90[JPT][hapmap]
rs150893	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs150895	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap]
rs17033381	0.93[CEU][hapmap];0.92[CHB][hapmap];0.90[JPT][hapmap]
rs223308	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap]
rs223313	0.88[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap]
rs223314	0.96[CEU][hapmap]
rs223315	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap]
rs223318	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap]
rs223324	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs223326	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs223330	0.96[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap]
rs223334	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap]
rs223338	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs223339	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap]
rs223346	0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap]
rs223347	0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap]
rs223349	0.96[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap]
rs223350	0.96[CHB][hapmap];0.95[JPT][hapmap]
rs223353	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs223356	0.96[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap]
rs223358	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs223359	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap]
rs223363	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap]
rs223367	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs223381	0.96[CEU][hapmap]
rs223383	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.90[YRI][hapmap]
rs223385	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap]
rs223390	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs223392	0.96[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap]
rs223395	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap]
rs223397	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs223400	0.96[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap]
rs223401	0.90[JPT][hapmap]
rs223410	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs223412	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs223418	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap]
rs223419	0.96[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap]
rs223420	0.85[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap]
rs223425	0.96[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap]
rs223438	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs223441	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap]
rs223446	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs223447	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs223448	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap]
rs223450	0.96[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap]
rs223452	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs223454	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap]
rs223457	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap]
rs223458	0.96[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap]
rs223467	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs223474	0.93[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap]
rs223475	0.93[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap]
rs223484	0.92[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap]
rs223486	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs223497	0.85[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap]
rs223498	0.85[JPT][hapmap]
rs3774987	0.96[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap]
rs3974604	0.92[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap]
rs3974608	0.96[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap]
rs5028609	0.96[CEU][hapmap];0.92[CHB][hapmap];0.90[JPT][hapmap]
rs6419160	0.96[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap]
rs6533041	0.96[CEU][hapmap];0.92[CHB][hapmap];0.90[JPT][hapmap]
rs6533050	0.96[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap]
rs65671	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6823625	1.00[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap]
rs6824070	0.93[CEU][hapmap];0.92[CHB][hapmap];0.90[JPT][hapmap]
rs6846762	0.96[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap]
rs7254	0.93[CEU][hapmap];0.96[CHB][hapmap];0.95[JPT][hapmap]
rs7663876	0.96[CEU][hapmap];0.92[CHB][hapmap];0.90[JPT][hapmap]
rs7676943	0.96[CEU][hapmap];0.92[CHB][hapmap];0.85[JPT][hapmap]
rs7681629	0.96[CEU][hapmap];0.91[CHB][hapmap];0.85[JPT][hapmap]
rs9307281	0.92[CHB][hapmap];0.90[JPT][hapmap]

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs223461	CISD2	Cis_1M	lymphoblastoid	RTeQTL
rs223461	KRT8P46	cis	lung	GTEx
rs223461	CISD2	cis	Skin Sun Exposed Lower leg	GTEx
rs223461	CISD2	cis	Nerve Tibial	GTEx
rs223461	LRRC37A15P	cis	lung	GTEx
rs223461	MANBA	cis	multi-tissue	Pritchard
rs223461	MANBA	Cis_1M	lymphoblastoid	RTeQTL
rs223461	CISD2	cis	Esophagus Muscularis	GTEx
rs223461	CISD2	cis	multi-tissue	Pritchard

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:103699400-103725000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:103700000-103714800	Weak transcription	Fetal Heart	heart
3	chr4:103700200-103710400	Weak transcription	HSMM	muscle
4	chr4:103700200-103712400	Weak transcription	Left Ventricle	heart
5	chr4:103700200-103716800	Weak transcription	Brain Cingulate Gyrus	brain
6	chr4:103700400-103709200	Weak transcription	NHLF	lung
7	chr4:103700400-103712800	Weak transcription	Primary B cells from cord blood	blood
8	chr4:103700400-103716200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr4:103700600-103707600	Weak transcription	Right Atrium	heart
10	chr4:103700600-103716000	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr4:103700600-103731600	Weak transcription	Pancreas	Pancrea
12	chr4:103701000-103710200	Weak transcription	Primary hematopoietic stem cells	blood
13	chr4:103701000-103714800	Weak transcription	Duodenum Mucosa	Duodenum
14	chr4:103701400-103712600	Weak transcription	Brain Hippocampus Middle	brain
15	chr4:103701400-103718000	Weak transcription	Lung	lung
16	chr4:103702000-103704000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr4:103702000-103712600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr4:103702200-103707600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr4:103702200-103710400	Weak transcription	K562	blood
20	chr4:103702200-103712400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr4:103702200-103712400	Weak transcription	Fetal Intestine Large	intestine
22	chr4:103702200-103712800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr4:103702200-103714000	Weak transcription	HMEC	breast
24	chr4:103702200-103716200	Weak transcription	NHEK	skin
25	chr4:103702200-103719000	Weak transcription	Small Intestine	intestine
26	chr4:103702400-103707600	Weak transcription	Aorta	Aorta
27	chr4:103702800-103717000	Weak transcription	Fetal Brain Male	brain
28	chr4:103703000-103703600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr4:103703000-103712600	Weak transcription	Esophagus	oesophagus
30	chr4:103703400-103714800	Weak transcription	HepG2	liver

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