Variant report

Variant	rs223457
Chromosome Location	chr4:103709663-103709664
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:103709195..103711005-chr4:103715001..103717258,3	K562	blood:
2	chr4:103709501..103712378-chr4:103747161..103748671,2	MCF-7	breast:
3	chr4:103708718..103710402-chr4:103747759..103750260,2	K562	blood:

Variant related genes	Relation type
ENSG00000246560	Chromatin interaction
ENSG00000109332	Chromatin interaction

Extended variants
information (count: 84 )
Associated
traits (count: 14 )

rSNPs within LD-proxies of this variant (count:84)

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]
rs10015289	0.92[CEU][hapmap];0.91[CHB][hapmap];0.89[CHD][hapmap];0.87[GIH][hapmap];0.91[JPT][hapmap];0.84[MEX][hapmap];0.91[TSI][hapmap]
rs11722779	0.92[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap]
rs11737544	0.96[CEU][hapmap];0.90[CHB][hapmap];0.91[JPT][hapmap]
rs12500379	0.92[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap]
rs12508069	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];0.80[MKK][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];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[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];1.00[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];0.97[LWK][hapmap];0.82[MEX][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap]
rs223318	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[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];0.84[LWK][hapmap];0.88[MEX][hapmap];0.88[MKK][hapmap];0.95[TSI][hapmap];0.86[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];0.97[LWK][hapmap];0.88[MEX][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap]
rs223346	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs223347	0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap]
rs223349	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs223350	0.95[CHB][hapmap];0.95[JPT][hapmap];0.87[YRI][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];1.00[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];0.97[LWK][hapmap];0.88[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap]
rs223367	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[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];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.95[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];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs223395	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[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];0.80[MKK][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];1.00[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];1.00[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];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[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];0.90[YRI][hapmap]
rs223467	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]
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];0.86[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]
rs3886722	0.96[CEU][hapmap];0.86[YRI][hapmap]
rs3886723	1.00[ASW][hapmap];0.96[CEU][hapmap];0.95[CHB][hapmap];0.89[CHD][hapmap];0.84[GIH][hapmap];0.91[JPT][hapmap];0.87[LWK][hapmap];0.84[MEX][hapmap];0.90[MKK][hapmap];0.91[TSI][hapmap];0.91[YRI][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];0.81[LWK][hapmap];0.88[MEX][hapmap];0.92[MKK][hapmap];0.95[TSI][hapmap];0.86[YRI][hapmap]
rs6533041	0.96[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.86[YRI][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];0.86[MKK][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];0.80[MKK][hapmap];0.98[TSI][hapmap]
rs6810668	0.89[CEU][hapmap];0.91[CHB][hapmap];0.89[CHD][hapmap];0.87[GIH][hapmap];0.91[JPT][hapmap];0.83[MEX][hapmap];0.89[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]
rs6852141	0.92[CEU][hapmap];0.91[CHB][hapmap];0.91[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];0.86[YRI][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];0.86[YRI][hapmap]
rs9999303	0.92[CEU][hapmap];0.91[CHB][hapmap];0.89[CHD][hapmap];0.87[GIH][hapmap];0.91[JPT][hapmap];0.88[MEX][hapmap];0.93[TSI][hapmap]

mRNA abundance (count:14)

SNP	Gene	Cis/trans	Tissue	Source
rs223457	MANBA	cis	parietal	SCAN
rs223457	CISD2	cis	Nerve Tibial	GTEx
rs223457	CISD2	cis	parietal	SCAN
rs223457	MANBA	cis	cerebellum	SCAN
rs223457	LRRC37A15P	cis	lung	GTEx
rs223457	CISD2	cis	multi-tissue	Pritchard
rs223457	CISD2	cis	lymphoblastoid	seeQTL
rs223457	CISD2	Cis_1M	lymphoblastoid	RTeQTL
rs223457	CISD2	cis	Esophagus Muscularis	GTEx
rs223457	KRT8P46	cis	lung	GTEx
rs223457	MANBA	cis	multi-tissue	Pritchard
rs223457	CISD2	cis	Skin Sun Exposed Lower leg	GTEx
rs223457	CISD2	cis	cerebellum	SCAN
rs223457	MANBA	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:46 , 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	chr4:103700400-103712800	Weak transcription	Primary B cells from cord blood	blood
7	chr4:103700400-103716200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr4:103700600-103716000	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr4:103700600-103731600	Weak transcription	Pancreas	Pancrea
10	chr4:103701000-103710200	Weak transcription	Primary hematopoietic stem cells	blood
11	chr4:103701000-103714800	Weak transcription	Duodenum Mucosa	Duodenum
12	chr4:103701400-103712600	Weak transcription	Brain Hippocampus Middle	brain
13	chr4:103701400-103718000	Weak transcription	Lung	lung
14	chr4:103702000-103712600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr4:103702200-103710400	Weak transcription	K562	blood
16	chr4:103702200-103712400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr4:103702200-103712400	Weak transcription	Fetal Intestine Large	intestine
18	chr4:103702200-103712800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr4:103702200-103714000	Weak transcription	HMEC	breast
20	chr4:103702200-103716200	Weak transcription	NHEK	skin
21	chr4:103702200-103719000	Weak transcription	Small Intestine	intestine
22	chr4:103702800-103717000	Weak transcription	Fetal Brain Male	brain
23	chr4:103703000-103712600	Weak transcription	Esophagus	oesophagus
24	chr4:103703400-103714800	Weak transcription	HepG2	liver
25	chr4:103703600-103712600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr4:103704800-103710400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr4:103704800-103710400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr4:103704800-103712000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr4:103704800-103716000	Weak transcription	Colon Smooth Muscle	Colon
30	chr4:103705000-103710400	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr4:103705400-103712600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr4:103705800-103710400	Weak transcription	HSMMtube	muscle
33	chr4:103706200-103712600	Weak transcription	Fetal Brain Female	brain
34	chr4:103706400-103716200	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr4:103706400-103719000	Weak transcription	Rectal Smooth Muscle	rectum
36	chr4:103706600-103710200	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr4:103706600-103712400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr4:103707800-103712600	Weak transcription	Aorta	Aorta
39	chr4:103707800-103712600	Weak transcription	Fetal Intestine Small	intestine
40	chr4:103707800-103716000	Weak transcription	Psoas Muscle	Psoas
41	chr4:103707800-103724800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr4:103707800-103732200	Weak transcription	Right Ventricle	heart
43	chr4:103709400-103712600	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr4:103709400-103713400	Weak transcription	NHLF	lung
45	chr4:103709600-103710800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr4:103709600-103712400	Weak transcription	Fetal Muscle Leg	muscle

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