Variant report

Variant	rs223438
Chromosome Location	chr4:103719741-103719742
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:103711798..103714550-chr4:103718145..103720751,3	K562	blood:
2	chr4:103711798..103714749-chr4:103718145..103719844,2	K562	blood:
3	chr4:103719443..103722708-chr4:103736970..103739381,3	K562	blood:
4	chr4:103719340..103721315-chr4:103723658..103726056,3	K562	blood:
5	chr4:103718817..103721356-chr4:103732444..103734603,2	K562	blood:

Variant related genes	Relation type
ENSG00000109332	Chromatin interaction

Extended variants
information (count: 94 )
Associated
traits (count: 10 )

rSNPs within LD-proxies of this variant (count:93)

rs_ID	r²[population]
rs10003326	0.96[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.84[YRI][hapmap]
rs10012413	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs10015289	1.00[ASW][hapmap];0.96[CEU][hapmap];0.95[CHB][hapmap];0.89[CHD][hapmap];0.91[JPT][hapmap];0.95[LWK][hapmap];0.84[MEX][hapmap];0.92[MKK][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap]
rs11722779	0.96[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap]
rs11737544	0.92[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];0.84[YRI][hapmap]
rs1383733	0.92[CEU][hapmap];0.91[CHB][hapmap];0.84[CHD][hapmap];0.91[JPT][hapmap];0.84[MEX][hapmap];0.91[TSI][hapmap]
rs150893	0.81[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.86[MKK][hapmap];0.98[TSI][hapmap]
rs150895	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]
rs17033381	0.96[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.92[YRI][hapmap]
rs223308	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs223313	0.88[CEU][hapmap];0.95[CHB][hapmap];0.82[GIH][hapmap];0.90[JPT][hapmap];0.91[MEX][hapmap];0.88[MKK][hapmap];0.95[TSI][hapmap]
rs223314	1.00[CEU][hapmap];0.91[YRI][hapmap]
rs223315	0.96[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.95[TSI][hapmap]
rs223318	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs223324	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.88[MEX][hapmap];1.00[MKK][hapmap];0.95[TSI][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];0.98[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.95[TSI][hapmap]
rs223338	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap]
rs223339	0.96[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.95[TSI][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[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.91[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][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];0.98[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.98[TSI][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];0.95[CHD][hapmap];0.84[GIH][hapmap];0.91[JPT][hapmap];1.00[TSI][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	0.89[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.98[TSI][hapmap]
rs223400	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap]
rs223401	0.91[JPT][hapmap]
rs223410	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.84[YRI][hapmap]
rs223412	0.81[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];0.88[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap]
rs223418	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.86[GIH][hapmap];0.95[JPT][hapmap];0.95[LWK][hapmap];0.87[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap]
rs223419	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs223420	0.89[ASW][hapmap];0.88[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.97[MKK][hapmap];0.98[TSI][hapmap];0.84[YRI][hapmap]
rs223425	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[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];0.91[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][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[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[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]
rs223454	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]
rs223457	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]
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[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][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	1.00[ASW][hapmap];0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap]
rs223486	0.92[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap]
rs223497	0.88[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap]
rs223498	0.87[MKK][hapmap];0.89[TSI][hapmap]
rs2866417	0.92[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	0.92[CEU][hapmap]
rs3886723	0.92[CEU][hapmap];0.91[CHB][hapmap];0.89[CHD][hapmap];0.91[JPT][hapmap];0.84[MEX][hapmap];0.91[TSI][hapmap]
rs3974485	0.92[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap]
rs3974604	1.00[ASW][hapmap];0.96[CEU][hapmap];0.95[CHB][hapmap];0.89[CHD][hapmap];0.82[GIH][hapmap];0.91[JPT][hapmap];0.95[LWK][hapmap];0.83[MEX][hapmap];0.95[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap]
rs3974608	0.92[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap]
rs5028609	0.92[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap]
rs6419160	0.92[CEU][hapmap];0.95[CHB][hapmap];0.89[CHD][hapmap];0.82[GIH][hapmap];0.91[JPT][hapmap];0.88[MEX][hapmap];0.95[TSI][hapmap]
rs6533041	0.92[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap]
rs6533050	0.92[CEU][hapmap];0.95[CHB][hapmap];0.89[CHD][hapmap];0.91[JPT][hapmap];0.88[MEX][hapmap];0.93[TSI][hapmap]
rs6533051	0.92[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap]
rs6533052	0.92[CEU][hapmap];0.95[CHB][hapmap];0.89[CHD][hapmap];0.91[JPT][hapmap];0.88[MEX][hapmap];0.93[TSI][hapmap]
rs65671	0.81[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];0.95[MEX][hapmap];0.86[MKK][hapmap];0.98[TSI][hapmap]
rs6810668	0.90[ASW][hapmap];0.92[CEU][hapmap];0.95[CHB][hapmap];0.89[CHD][hapmap];0.91[JPT][hapmap];0.89[LWK][hapmap];0.83[MEX][hapmap];0.89[TSI][hapmap];0.92[YRI][hapmap]
rs6815526	1.00[ASW][hapmap];0.94[LWK][hapmap];1.00[YRI][hapmap]
rs6823625	0.81[ASW][hapmap];0.96[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.82[GIH][hapmap];0.91[JPT][hapmap];1.00[LWK][hapmap];0.87[MEX][hapmap];0.93[TSI][hapmap]
rs6824070	0.96[CEU][hapmap];0.95[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];0.95[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap]
rs6853193	0.96[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.86[YRI][hapmap]
rs7254	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap]
rs7663876	0.92[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap]
rs7672319	0.92[CEU][hapmap];0.95[CHB][hapmap];0.89[CHD][hapmap];0.91[JPT][hapmap];0.88[MEX][hapmap];0.91[TSI][hapmap]
rs7676943	0.92[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap]
rs7681629	1.00[ASW][hapmap];0.96[CEU][hapmap];0.95[CHB][hapmap];0.86[CHD][hapmap];0.86[JPT][hapmap];0.86[MEX][hapmap];0.88[MKK][hapmap];0.89[TSI][hapmap];0.86[YRI][hapmap]
rs7685399	0.92[CEU][hapmap];0.91[CHB][hapmap];0.89[CHD][hapmap];0.87[JPT][hapmap];0.84[MEX][hapmap];0.91[TSI][hapmap]
rs9307281	0.95[CHB][hapmap];0.91[JPT][hapmap]
rs9999303	1.00[ASW][hapmap];0.96[CEU][hapmap];0.95[CHB][hapmap];0.89[CHD][hapmap];0.91[JPT][hapmap];0.88[MEX][hapmap];0.90[MKK][hapmap];0.93[TSI][hapmap];0.86[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526256	chr4:103712589-103728010	Strong transcription Genic enhancers Weak transcription ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:10)

SNP	Gene	Cis/trans	Tissue	Source
rs223438	MANBA	cis	multi-tissue	Pritchard
rs223438	LRRC37A15P	cis	lung	GTEx
rs223438	CISD2	cis	Skin Sun Exposed Lower leg	GTEx
rs223438	CISD2	cis	cerebellum	SCAN
rs223438	CISD2	cis	Esophagus Muscularis	GTEx
rs223438	CISD2	cis	multi-tissue	Pritchard
rs223438	CISD2	cis	Nerve Tibial	GTEx
rs223438	CISD2	cis	parietal	SCAN
rs223438	KRT8P46	cis	lung	GTEx
rs223438	MANBA	cis	parietal	SCAN

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:103699400-103725000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:103700600-103731600	Weak transcription	Pancreas	Pancrea
3	chr4:103707800-103724800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr4:103707800-103732200	Weak transcription	Right Ventricle	heart
5	chr4:103711200-103724800	Weak transcription	Fetal Stomach	stomach
6	chr4:103711200-103731000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr4:103711200-103731600	Weak transcription	Spleen	Spleen
8	chr4:103711400-103732600	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr4:103711800-103728400	Strong transcription	HSMM	muscle
10	chr4:103712400-103720200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr4:103712400-103720400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr4:103712400-103724600	Strong transcription	A549	lung
13	chr4:103712400-103726200	Strong transcription	HSMMtube	muscle
14	chr4:103712400-103726800	Strong transcription	Primary neutrophils fromperipheralblood	blood
15	chr4:103712400-103729200	Strong transcription	Muscle Satellite Cultured Cells	--
16	chr4:103712400-103730000	Strong transcription	Primary hematopoietic stem cells	blood
17	chr4:103712400-103735000	Strong transcription	K562	blood
18	chr4:103712400-103736200	Strong transcription	Fetal Intestine Large	intestine
19	chr4:103712400-103737200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr4:103712600-103726600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr4:103712600-103729000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr4:103712600-103729800	Strong transcription	Adipose Nuclei	Adipose
23	chr4:103712600-103730200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr4:103712600-103730400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr4:103712600-103731200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr4:103712600-103739600	Strong transcription	Fetal Thymus	thymus
27	chr4:103712800-103724800	Weak transcription	Fetal Intestine Small	intestine
28	chr4:103712800-103730600	Strong transcription	Primary B cells from cord blood	blood
29	chr4:103712800-103730800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr4:103712800-103730800	Strong transcription	NH-A	brain
31	chr4:103712800-103731600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr4:103712800-103736800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr4:103713000-103744400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr4:103713600-103727200	Strong transcription	Primary T cells from cord blood	blood
35	chr4:103713600-103730800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
36	chr4:103714000-103725000	Strong transcription	Primary T helper cells fromperipheralblood	blood
37	chr4:103714000-103730400	Strong transcription	GM12878-XiMat	blood
38	chr4:103714000-103732200	Weak transcription	Esophagus	oesophagus
39	chr4:103714000-103740800	Weak transcription	Aorta	Aorta
40	chr4:103714600-103721800	Strong transcription	Primary T helper cells PMA-I stimulated	--
41	chr4:103714800-103725000	Strong transcription	Primary T cells fromperipheralblood	blood
42	chr4:103714800-103726600	Strong transcription	Fetal Muscle Trunk	muscle
43	chr4:103714800-103728200	Strong transcription	Liver	Liver
44	chr4:103714800-103729400	Strong transcription	HUVEC	blood vessel
45	chr4:103714800-103733200	Strong transcription	Duodenum Mucosa	Duodenum
46	chr4:103714800-103737200	Strong transcription	Dnd41	blood
47	chr4:103715000-103721400	Strong transcription	Fetal Muscle Leg	muscle
48	chr4:103715000-103721600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr4:103715000-103724600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr4:103715200-103721200	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood

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