Variant report

Variant	rs223467
Chromosome Location	chr4:103700878-103700879
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:103700767..103702630-chr4:103715058..103716943,2	K562	blood:
2	chr4:103700009..103702220-chr4:103711139..103712896,2	K562	blood:
3	chr4:103679312..103683251-chr4:103697629..103702164,5	K562	blood:

Variant related genes	Relation type
ENSG00000109323	Chromatin interaction

Extended variants
information (count: 75 )
Associated
traits (count: 12 )

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

rs_ID	r²[population]
rs10003326	0.92[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap]
rs10012413	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs11722779	0.92[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap]
rs150893	0.96[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.98[TSI][hapmap]
rs150895	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap]
rs17033381	0.92[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap]
rs223308	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap]
rs223313	0.88[CEU][hapmap];0.90[CHB][hapmap];0.95[GIH][hapmap];0.90[JPT][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap]
rs223314	0.95[CEU][hapmap]
rs223315	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];0.82[MEX][hapmap];0.92[MKK][hapmap];0.95[TSI][hapmap];0.90[YRI][hapmap]
rs223318	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap]
rs223324	0.96[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.95[TSI][hapmap]
rs223326	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs223330	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs223334	0.86[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];0.88[MEX][hapmap];0.91[MKK][hapmap];0.95[TSI][hapmap];0.95[YRI][hapmap]
rs223338	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs223339	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];0.88[MEX][hapmap];0.92[MKK][hapmap];0.95[TSI][hapmap];0.90[YRI][hapmap]
rs223346	0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap]
rs223347	0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap]
rs223349	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs223350	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs223353	0.96[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.98[TSI][hapmap]
rs223356	0.96[CEU][hapmap];0.95[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];0.90[YRI][hapmap]
rs223363	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];0.88[MEX][hapmap];0.92[MKK][hapmap];0.98[TSI][hapmap];0.90[YRI][hapmap]
rs223367	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap]
rs223381	0.96[CEU][hapmap]
rs223383	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.98[GIH][hapmap];0.91[JPT][hapmap];0.93[LWK][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap]
rs223385	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap]
rs223390	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs223392	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs223395	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[YRI][hapmap]
rs223397	0.92[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.98[TSI][hapmap]
rs223400	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs223401	0.91[JPT][hapmap]
rs223410	0.96[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap]
rs223412	0.96[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap]
rs223418	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.87[MEX][hapmap];1.00[TSI][hapmap]
rs223419	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs223420	0.85[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.98[TSI][hapmap]
rs223425	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs223438	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs223441	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[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[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap]
rs223448	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap]
rs223450	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs223452	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs223454	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap]
rs223457	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap]
rs223458	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap]
rs223461	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs223474	0.92[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap]
rs223475	0.92[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap]
rs223484	0.92[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap]
rs223486	0.93[ASW][hapmap];0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];0.98[TSI][hapmap]
rs223497	0.84[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap]
rs223498	0.89[TSI][hapmap]
rs3774987	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs3974604	0.92[CEU][hapmap];0.91[CHB][hapmap];0.89[CHD][hapmap];0.95[GIH][hapmap];0.91[JPT][hapmap];0.83[MEX][hapmap];0.93[TSI][hapmap]
rs3974608	0.96[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap]
rs5028609	0.96[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap]
rs6419160	0.86[ASW][hapmap];0.96[CEU][hapmap];0.91[CHB][hapmap];0.89[CHD][hapmap];0.95[GIH][hapmap];0.91[JPT][hapmap];0.88[MEX][hapmap];0.85[MKK][hapmap];0.95[TSI][hapmap]
rs6533041	0.96[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap]
rs6533050	0.86[ASW][hapmap];0.96[CEU][hapmap];0.91[CHB][hapmap];0.89[CHD][hapmap];0.85[GIH][hapmap];0.91[JPT][hapmap];0.88[MEX][hapmap];0.93[TSI][hapmap]
rs65671	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.98[TSI][hapmap]
rs6823625	1.00[CEU][hapmap];0.90[CHB][hapmap];0.98[CHD][hapmap];0.95[GIH][hapmap];0.91[JPT][hapmap];0.87[MEX][hapmap];0.93[TSI][hapmap]
rs6824070	0.92[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap]
rs6846762	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs7254	0.92[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap]
rs7663876	0.96[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap]
rs7676943	0.96[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap]
rs7681629	0.96[CEU][hapmap];0.91[CHB][hapmap];0.86[CHD][hapmap];0.86[GIH][hapmap];0.86[JPT][hapmap];0.89[TSI][hapmap]
rs9307281	0.91[CHB][hapmap];0.91[JPT][hapmap]

mRNA abundance (count:12)

SNP	Gene	Cis/trans	Tissue	Source
rs223467	CISD2	cis	cerebellum	SCAN
rs223467	LRRC37A15P	cis	lung	GTEx
rs223467	MANBA	cis	parietal	SCAN
rs223467	CISD2	cis	parietal	SCAN
rs223467	CISD2	cis	Nerve Tibial	GTEx
rs223467	CISD2	cis	Esophagus Muscularis	GTEx
rs223467	MANBA	cis	cerebellum	SCAN
rs223467	MANBA	cis	multi-tissue	Pritchard
rs223467	CISD2	cis	Skin Sun Exposed Lower leg	GTEx
rs223467	CISD2	cis	lymphoblastoid	seeQTL
rs223467	CISD2	cis	multi-tissue	Pritchard
rs223467	KRT8P46	cis	lung	GTEx

Chromatin state (count:32 , 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	chr4:103699600-103702200	Enhancers	Fetal Intestine Small	intestine
3	chr4:103699800-103702000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr4:103699800-103702200	Enhancers	K562	blood
5	chr4:103699800-103703400	Enhancers	Stomach Mucosa	stomach
6	chr4:103700000-103701400	Enhancers	Lung	lung
7	chr4:103700000-103702200	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr4:103700000-103702200	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr4:103700000-103714800	Weak transcription	Fetal Heart	heart
10	chr4:103700200-103701200	Enhancers	Pancreatic Islets	Pancreatic Islet
11	chr4:103700200-103701200	Weak transcription	Gastric	stomach
12	chr4:103700200-103701600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr4:103700200-103702200	Enhancers	Fetal Intestine Large	intestine
14	chr4:103700200-103710400	Weak transcription	HSMM	muscle
15	chr4:103700200-103712400	Weak transcription	Left Ventricle	heart
16	chr4:103700200-103716800	Weak transcription	Brain Cingulate Gyrus	brain
17	chr4:103700400-103701000	Enhancers	Primary hematopoietic stem cells	blood
18	chr4:103700400-103701000	Enhancers	Duodenum Mucosa	Duodenum
19	chr4:103700400-103709200	Weak transcription	NHLF	lung
20	chr4:103700400-103712800	Weak transcription	Primary B cells from cord blood	blood
21	chr4:103700400-103716200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr4:103700600-103701000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr4:103700600-103701000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr4:103700600-103701000	Enhancers	Rectal Mucosa Donor 29	rectum
25	chr4:103700600-103702000	Weak transcription	Esophagus	oesophagus
26	chr4:103700600-103702200	Enhancers	Monocytes-CD14+_RO01746	blood
27	chr4:103700600-103702400	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr4:103700600-103707600	Weak transcription	Right Atrium	heart
29	chr4:103700600-103716000	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr4:103700600-103731600	Weak transcription	Pancreas	Pancrea
31	chr4:103700800-103702200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr4:103700800-103703400	Enhancers	HepG2	liver

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