Variant report

Variant	rs223450
Chromosome Location	chr4:103712209-103712210
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:103711113..103714481-chr4:103747223..103749137,4	MCF-7	breast:
2	chr4:103681921..103683833-chr4:103711504..103713262,2	MCF-7	breast:
3	chr4:103709698..103712362-chr4:103742984..103745016,2	K562	blood:
4	chr4:103700009..103702220-chr4:103711139..103712896,2	K562	blood:
5	chr4:103709501..103712378-chr4:103747161..103748671,2	MCF-7	breast:
6	chr4:103711798..103714550-chr4:103718145..103720751,3	K562	blood:
7	chr4:103711798..103714749-chr4:103718145..103719844,2	K562	blood:

Variant related genes	Relation type
ENSG00000109332	Chromatin interaction
ENSG00000109323	Chromatin interaction

Extended variants
information (count: 87 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs10003326	0.96[CEU][hapmap];0.96[CHB][hapmap];0.91[JPT][hapmap];0.85[YRI][hapmap]
rs10012413	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs10015289	0.96[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap]
rs11722779	0.96[CEU][hapmap];0.96[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap]
rs11737544	0.93[CEU][hapmap];0.95[CHB][hapmap];0.87[JPT][hapmap]
rs12500379	0.96[CEU][hapmap];0.96[CHB][hapmap];0.87[JPT][hapmap]
rs12508069	0.96[CEU][hapmap];0.96[CHB][hapmap];0.87[JPT][hapmap];0.85[YRI][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];0.96[CHB][hapmap];0.88[JPT][hapmap];0.93[YRI][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];0.92[YRI][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];1.00[YRI][hapmap]
rs223326	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][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];0.85[YRI][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];1.00[YRI][hapmap]
rs223350	0.91[CHB][hapmap];0.96[JPT][hapmap]
rs223353	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs223356	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs223358	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs223359	0.96[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap]
rs223363	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs223367	0.96[CEU][hapmap];0.96[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];0.96[CHB][hapmap];0.95[JPT][hapmap]
rs223397	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs223400	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap]
rs223401	0.91[JPT][hapmap]
rs223410	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][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];0.92[YRI][hapmap]
rs223419	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs223420	0.88[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap]
rs223425	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs223438	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs223441	0.96[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap]
rs223446	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs223447	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs223448	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs223452	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][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];1.00[YRI][hapmap]
rs223461	0.96[CEU][hapmap];0.96[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];1.00[YRI][hapmap]
rs223475	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs223484	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs223486	0.92[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap]
rs223497	0.89[CEU][hapmap];0.96[CHB][hapmap];0.91[JPT][hapmap]
rs3774987	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs3886722	0.93[CEU][hapmap]
rs3886723	0.92[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap]
rs3974604	0.96[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap]
rs3974608	0.93[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap]
rs5028609	0.93[CEU][hapmap];0.96[CHB][hapmap];0.91[JPT][hapmap]
rs6419160	0.92[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap]
rs6533041	0.93[CEU][hapmap];0.96[CHB][hapmap];0.91[JPT][hapmap]
rs6533050	0.92[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap]
rs6533051	0.92[CEU][hapmap];0.96[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];0.92[YRI][hapmap]
rs6815526	1.00[YRI][hapmap]
rs6823625	0.96[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap]
rs6824070	0.96[CEU][hapmap];0.96[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap]
rs6846762	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs6852141	0.96[CEU][hapmap];0.96[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap]
rs7254	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap]
rs7663876	0.93[CEU][hapmap];0.96[CHB][hapmap];0.91[JPT][hapmap]
rs7672319	0.92[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap]
rs7676943	0.93[CEU][hapmap];0.96[CHB][hapmap];0.86[JPT][hapmap]
rs7681629	0.96[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.92[YRI][hapmap]
rs9307281	0.96[CHB][hapmap];0.91[JPT][hapmap]
rs9999303	0.96[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.92[YRI][hapmap]

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs223450	CISD2	cis	multi-tissue	Pritchard
rs223450	KRT8P46	cis	lung	GTEx
rs223450	CISD2	cis	Skin Sun Exposed Lower leg	GTEx
rs223450	CISD2	Cis_1M	lymphoblastoid	RTeQTL
rs223450	MANBA	Cis_1M	lymphoblastoid	RTeQTL
rs223450	CISD2	cis	Esophagus Muscularis	GTEx
rs223450	MANBA	cis	multi-tissue	Pritchard
rs223450	CISD2	cis	Nerve Tibial	GTEx
rs223450	LRRC37A15P	cis	lung	GTEx

Chromatin state (count:97 , 50 per page) page: 1 2

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	chr4:103700200-103712400	Weak transcription	Left Ventricle	heart
4	chr4:103700200-103716800	Weak transcription	Brain Cingulate Gyrus	brain
5	chr4:103700400-103712800	Weak transcription	Primary B cells from cord blood	blood
6	chr4:103700400-103716200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr4:103700600-103716000	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr4:103700600-103731600	Weak transcription	Pancreas	Pancrea
9	chr4:103701000-103714800	Weak transcription	Duodenum Mucosa	Duodenum
10	chr4:103701400-103712600	Weak transcription	Brain Hippocampus Middle	brain
11	chr4:103701400-103718000	Weak transcription	Lung	lung
12	chr4:103702000-103712600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr4:103702200-103712400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr4:103702200-103712400	Weak transcription	Fetal Intestine Large	intestine
15	chr4:103702200-103712800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr4:103702200-103714000	Weak transcription	HMEC	breast
17	chr4:103702200-103716200	Weak transcription	NHEK	skin
18	chr4:103702200-103719000	Weak transcription	Small Intestine	intestine
19	chr4:103702800-103717000	Weak transcription	Fetal Brain Male	brain
20	chr4:103703000-103712600	Weak transcription	Esophagus	oesophagus
21	chr4:103703400-103714800	Weak transcription	HepG2	liver
22	chr4:103703600-103712600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr4:103704800-103716000	Weak transcription	Colon Smooth Muscle	Colon
24	chr4:103705400-103712600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr4:103706200-103712600	Weak transcription	Fetal Brain Female	brain
26	chr4:103706400-103716200	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr4:103706400-103719000	Weak transcription	Rectal Smooth Muscle	rectum
28	chr4:103706600-103712400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr4:103707800-103712600	Weak transcription	Aorta	Aorta
30	chr4:103707800-103712600	Weak transcription	Fetal Intestine Small	intestine
31	chr4:103707800-103716000	Weak transcription	Psoas Muscle	Psoas
32	chr4:103707800-103724800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr4:103707800-103732200	Weak transcription	Right Ventricle	heart
34	chr4:103709400-103712600	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr4:103709400-103713400	Weak transcription	NHLF	lung
36	chr4:103709600-103712400	Weak transcription	Fetal Muscle Leg	muscle
37	chr4:103710200-103712600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr4:103710200-103712800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr4:103710400-103712600	Weak transcription	GM12878-XiMat	blood
40	chr4:103710400-103718800	Weak transcription	Thymus	Thymus
41	chr4:103710600-103712600	Weak transcription	Adipose Nuclei	Adipose
42	chr4:103710600-103712800	Weak transcription	Brain Angular Gyrus	brain
43	chr4:103710600-103715000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr4:103710600-103717000	Weak transcription	Hela-S3	cervix
45	chr4:103710800-103712400	Weak transcription	Primary hematopoietic stem cells	blood
46	chr4:103710800-103712400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr4:103710800-103712400	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr4:103710800-103712600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr4:103710800-103712600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr4:103710800-103712600	Weak transcription	Fetal Thymus	thymus

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