Variant report

Variant	rs223326
Chromosome Location	chr4:103794927-103794928
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:103741330..103752134-chr4:103778393..103796398,92	K562	blood:
2	chr4:103736995..103756245-chr4:103778393..103800311,117	K562	blood:

Variant related genes	Relation type
ENSG00000246560	Chromatin interaction
ENSG00000109332	Chromatin interaction

Extended variants
information (count: 114 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:108)

rs_ID	r²[population]
rs10003326	0.96[CEU][hapmap];0.95[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]
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];1.00[YRI][hapmap]
rs11731885	0.96[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.86[YRI][hapmap]
rs11737544	0.93[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap]
rs12500379	0.96[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap]
rs12508069	0.96[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.85[YRI][hapmap]
rs13130741	0.92[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap]
rs13150426	0.93[CEU][hapmap];0.87[CHB][hapmap];0.95[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];0.91[JPT][hapmap];0.93[YRI][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];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]
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];0.95[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];0.95[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]
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];0.95[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]
rs223450	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][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];0.95[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];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];0.95[CHB][hapmap];0.91[JPT][hapmap]
rs28445579	0.92[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap]
rs2866417	0.93[CEU][hapmap];0.91[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]
rs3974485	0.93[CEU][hapmap];0.95[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]
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];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];0.95[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap]
rs6842179	0.96[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap]
rs6846762	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs6852141	0.96[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap]
rs6853193	0.96[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.87[YRI][hapmap]
rs724447	0.96[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.86[YRI][hapmap]
rs7254	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][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];0.86[YRI][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];0.86[YRI][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];0.86[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 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
3	esv2757946	chr4:103780705-104057321	Strong transcription Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	esv2759270	chr4:103780705-104057321	ZNF genes & repeats Strong transcription Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	nsv879683	chr4:103785051-103916717	Flanking Active TSS Genic enhancers Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
6	esv1849799	chr4:103787351-103881772	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs223326	CISD2	cis	Nerve Tibial	GTEx
rs223326	CISD2	cis	Skin Sun Exposed Lower leg	GTEx
rs223326	LRRC37A15P	cis	lung	GTEx
rs223326	MANBA	cis	multi-tissue	Pritchard
rs223326	CISD2	cis	multi-tissue	Pritchard
rs223326	MANBA	Cis_1M	lymphoblastoid	RTeQTL
rs223326	KRT8P46	cis	lung	GTEx
rs223326	CISD2	Cis_1M	lymphoblastoid	RTeQTL
rs223326	CISD2	cis	Esophagus Muscularis	GTEx

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:103790800-103799400	Weak transcription	Spleen	Spleen
2	chr4:103791000-103795400	Weak transcription	Lung	lung
3	chr4:103791000-103797600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr4:103791200-103795800	Weak transcription	Left Ventricle	heart
5	chr4:103791200-103795800	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr4:103791200-103797600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr4:103791200-103797600	Weak transcription	Aorta	Aorta
8	chr4:103791200-103798000	Weak transcription	Fetal Muscle Trunk	muscle
9	chr4:103791200-103834800	Weak transcription	Ovary	ovary
10	chr4:103791400-103795400	Weak transcription	Brain Angular Gyrus	brain
11	chr4:103791400-103795800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr4:103791400-103796600	Weak transcription	Placenta	Placenta
13	chr4:103791400-103797000	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr4:103791400-103797800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr4:103791400-103798000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr4:103791400-103798200	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr4:103791400-103798400	Weak transcription	Fetal Brain Male	brain
18	chr4:103791400-103798800	Weak transcription	Adipose Nuclei	Adipose
19	chr4:103791400-103798800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr4:103791400-103800000	Weak transcription	Right Atrium	heart
21	chr4:103791400-103800200	Weak transcription	Colonic Mucosa	Colon
22	chr4:103791400-103800200	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr4:103791400-103806400	Weak transcription	Rectal Smooth Muscle	rectum
24	chr4:103791400-103806600	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr4:103791400-103806800	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr4:103791400-103818600	Weak transcription	HSMMtube	muscle
27	chr4:103791600-103795400	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr4:103791600-103795800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr4:103791600-103795800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr4:103791600-103795800	Weak transcription	Stomach Smooth Muscle	stomach
31	chr4:103791600-103797000	Weak transcription	Primary B cells from peripheral blood	blood
32	chr4:103791600-103797000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr4:103791600-103797200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr4:103791600-103797400	Weak transcription	Fetal Heart	heart
35	chr4:103791600-103797800	Weak transcription	Brain Germinal Matrix	brain
36	chr4:103791600-103798000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr4:103791600-103798000	Weak transcription	Thymus	Thymus
38	chr4:103791600-103798200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr4:103791600-103798200	Weak transcription	NH-A	brain
40	chr4:103791600-103798400	Weak transcription	Brain Hippocampus Middle	brain
41	chr4:103791600-103799200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr4:103791600-103799800	Weak transcription	Brain Substantia Nigra	brain
43	chr4:103791600-103802400	Weak transcription	Fetal Lung	lung
44	chr4:103791800-103795000	Weak transcription	Primary B cells from cord blood	blood
45	chr4:103791800-103797200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr4:103791800-103797800	Weak transcription	Fetal Intestine Large	intestine
47	chr4:103791800-103798000	Weak transcription	HMEC	breast
48	chr4:103792000-103795400	Weak transcription	Fetal Kidney	kidney
49	chr4:103792000-103795600	Weak transcription	Duodenum Mucosa	Duodenum
50	chr4:103792000-103796000	Weak transcription	Brain Anterior Caudate	brain

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