Variant report

Variant	rs223330
Chromosome Location	chr4:103793659-103793660
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:103746553..103755574-chr4:103787108..103794302,29	MCF-7	breast:
2	chr4:103741330..103752134-chr4:103778393..103796398,92	K562	blood:
3	chr4:103679565..103681940-chr4:103791638..103794371,2	K562	blood:
4	chr4:103758456..103761441-chr4:103792692..103794665,2	K562	blood:
5	chr4:100869430..100871433-chr4:103792191..103794133,2	K562	blood:
6	chr4:103736995..103756245-chr4:103778393..103800311,117	K562	blood:
7	chr4:103792090..103794720-chr4:103796684..103798750,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000164032	Chromatin interaction
ENSG00000245322	Chromatin interaction
ENSG00000109332	Chromatin interaction
ENSG00000246560	Chromatin interaction

Extended variants
information (count: 113 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:107)

rs_ID	r²[population]
rs10003326	1.00[CEU][hapmap];0.96[CHB][hapmap];0.91[JPT][hapmap]
rs10012413	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10015289	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap]
rs1080081	0.92[CEU][hapmap];0.83[CHB][hapmap]
rs11097796	0.96[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap]
rs11722779	1.00[CEU][hapmap];0.96[CHB][hapmap];0.91[JPT][hapmap]
rs11731885	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap]
rs11737544	0.96[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap]
rs12500379	1.00[CEU][hapmap];0.96[CHB][hapmap];0.91[JPT][hapmap]
rs12508069	1.00[CEU][hapmap];0.96[CHB][hapmap];0.91[JPT][hapmap]
rs13130741	0.96[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap]
rs13150426	0.96[CEU][hapmap];0.87[CHB][hapmap];0.95[JPT][hapmap]
rs1383733	0.96[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	1.00[CEU][hapmap];0.96[CHB][hapmap];0.91[JPT][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]
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]
rs223326	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]
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]
rs223350	0.91[CHB][hapmap];0.95[JPT][hapmap]
rs223353	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs223356	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][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]
rs223401	0.91[JPT][hapmap]
rs223410	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][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]
rs223419	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs223420	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs223425	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs223438	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][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]
rs223447	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][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]
rs223452	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][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]
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]
rs223475	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs223484	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][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]
rs28445579	0.96[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap]
rs2866417	0.96[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap]
rs3774987	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3886722	0.96[CEU][hapmap]
rs3886723	0.96[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap]
rs3974485	0.96[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap]
rs3974604	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap]
rs3974608	0.96[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap]
rs4623004	0.96[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap]
rs4698874	0.96[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap]
rs4699049	0.96[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap]
rs5028609	0.96[CEU][hapmap];0.96[CHB][hapmap];0.91[JPT][hapmap]
rs6419160	0.96[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap]
rs6533041	0.96[CEU][hapmap];0.96[CHB][hapmap];0.91[JPT][hapmap]
rs6533050	0.96[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap]
rs6533051	0.96[CEU][hapmap];0.96[CHB][hapmap];0.91[JPT][hapmap]
rs6533052	0.96[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap]
rs65671	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs6810668	0.96[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap]
rs6823625	0.96[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap]
rs6824070	1.00[CEU][hapmap];0.96[CHB][hapmap];0.91[JPT][hapmap]
rs6842179	1.00[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap]
rs6846762	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6852141	1.00[CEU][hapmap];0.96[CHB][hapmap];0.91[JPT][hapmap]
rs6853193	1.00[CEU][hapmap];0.96[CHB][hapmap];0.91[JPT][hapmap]
rs724447	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap]
rs7254	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs7660298	0.96[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap]
rs7663876	0.96[CEU][hapmap];0.96[CHB][hapmap];0.91[JPT][hapmap]
rs7672319	0.96[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap]
rs7676765	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap]
rs7676943	0.96[CEU][hapmap];0.96[CHB][hapmap];0.86[JPT][hapmap]
rs7681629	1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap]
rs7685399	0.96[CEU][hapmap];0.91[CHB][hapmap];0.87[JPT][hapmap]
rs7694724	0.96[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap]
rs7698608	0.96[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap]
rs9307281	0.96[CHB][hapmap];0.91[JPT][hapmap]
rs9999303	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][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
rs223330	MANBA	Cis_1M	lymphoblastoid	RTeQTL
rs223330	CISD2	cis	Nerve Tibial	GTEx
rs223330	LRRC37A15P	cis	lung	GTEx
rs223330	MANBA	cis	multi-tissue	Pritchard
rs223330	KRT8P46	cis	lung	GTEx
rs223330	CISD2	Cis_1M	lymphoblastoid	RTeQTL
rs223330	CISD2	cis	Skin Sun Exposed Lower leg	GTEx
rs223330	CISD2	cis	multi-tissue	Pritchard
rs223330	CISD2	cis	Esophagus Muscularis	GTEx

Chromatin state (count:109 , 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	chr4:103791400-103794000	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr4:103791400-103794000	Weak transcription	Fetal Muscle Leg	muscle
12	chr4:103791400-103794200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr4:103791400-103795400	Weak transcription	Brain Angular Gyrus	brain
14	chr4:103791400-103795800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr4:103791400-103796600	Weak transcription	Placenta	Placenta
16	chr4:103791400-103797000	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr4:103791400-103797800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr4:103791400-103798000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr4:103791400-103798200	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr4:103791400-103798400	Weak transcription	Fetal Brain Male	brain
21	chr4:103791400-103798800	Weak transcription	Adipose Nuclei	Adipose
22	chr4:103791400-103798800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr4:103791400-103800000	Weak transcription	Right Atrium	heart
24	chr4:103791400-103800200	Weak transcription	Colonic Mucosa	Colon
25	chr4:103791400-103800200	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr4:103791400-103806400	Weak transcription	Rectal Smooth Muscle	rectum
27	chr4:103791400-103806600	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr4:103791400-103806800	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr4:103791400-103818600	Weak transcription	HSMMtube	muscle
30	chr4:103791600-103793800	Active TSS	K562	blood
31	chr4:103791600-103794000	Weak transcription	Fetal Stomach	stomach
32	chr4:103791600-103794200	Weak transcription	Fetal Thymus	thymus
33	chr4:103791600-103795400	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr4:103791600-103795800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr4:103791600-103795800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr4:103791600-103795800	Weak transcription	Stomach Smooth Muscle	stomach
37	chr4:103791600-103797000	Weak transcription	Primary B cells from peripheral blood	blood
38	chr4:103791600-103797000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr4:103791600-103797200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr4:103791600-103797400	Weak transcription	Fetal Heart	heart
41	chr4:103791600-103797800	Weak transcription	Brain Germinal Matrix	brain
42	chr4:103791600-103798000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr4:103791600-103798000	Weak transcription	Thymus	Thymus
44	chr4:103791600-103798200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr4:103791600-103798200	Weak transcription	NH-A	brain
46	chr4:103791600-103798400	Weak transcription	Brain Hippocampus Middle	brain
47	chr4:103791600-103799200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr4:103791600-103799800	Weak transcription	Brain Substantia Nigra	brain
49	chr4:103791600-103802400	Weak transcription	Fetal Lung	lung
50	chr4:103791800-103794200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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