Variant report

Variant	rs4547797
Chromosome Location	chr4:103557192-103557193
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs1054029	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap]
rs1054037	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.95[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap]
rs1077358	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap]
rs11724614	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs11727546	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap]
rs12498722	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs12644381	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs13106304	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs13106325	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs17033015	0.90[JPT][hapmap]
rs179195	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs2125211	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap]
rs2272695	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs2272696	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs2272697	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs227276	0.82[CHB][hapmap]
rs227277	0.82[CHB][hapmap]
rs227361	0.81[CEU][hapmap];0.82[CHB][hapmap];0.82[JPT][hapmap]
rs228611	0.92[CEU][hapmap];0.91[CHB][hapmap];0.91[CHD][hapmap];0.93[GIH][hapmap];0.91[JPT][hapmap];0.81[MEX][hapmap];0.85[TSI][hapmap]
rs228614	0.81[CEU][hapmap];0.82[CHB][hapmap];0.82[JPT][hapmap]
rs228617	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs228618	0.81[CEU][hapmap];0.95[CHB][hapmap];0.84[CHD][hapmap];0.95[JPT][hapmap];0.81[TSI][hapmap]
rs228619	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs228623	0.86[CHB][hapmap];0.82[TSI][hapmap]
rs2866407	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs2866412	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2866413	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs2866414	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs2903283	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3733202	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap]
rs3774968	0.83[JPT][hapmap]
rs4013	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap]
rs404574	0.82[CEU][hapmap];0.84[CHB][hapmap];0.83[JPT][hapmap]
rs434644	0.82[CHB][hapmap];0.80[JPT][hapmap]
rs4496586	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs4586937	1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap]
rs5026472	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs5026473	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs5026474	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs5026476	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs6533020	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs6533021	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs6810869	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs6812747	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs6839064	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs735403	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap]
rs735404	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap]
rs735405	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs7674640	0.84[CEU][hapmap];0.85[CHB][hapmap]
rs7677509	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs7699231	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs7699678	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs909349	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830020	chr4:103387343-103581284	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv1003618	chr4:103530465-103562161	Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS	Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
3	esv1799158	chr4:103556316-103580296	Genic enhancers Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4547797	MANBA	cis	parietal	SCAN
rs4547797	MANBA	cis	multi-tissue	Pritchard
rs4547797	CISD2	cis	parietal	SCAN

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:103536200-103595400	Weak transcription	Colonic Mucosa	Colon
2	chr4:103536600-103562600	Weak transcription	Brain Germinal Matrix	brain
3	chr4:103536600-103595800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr4:103541800-103562400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr4:103541800-103571000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr4:103542400-103557200	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr4:103542400-103560800	Weak transcription	Brain Substantia Nigra	brain
8	chr4:103542400-103562200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr4:103542400-103578800	Weak transcription	Psoas Muscle	Psoas
10	chr4:103542400-103594400	Weak transcription	K562	blood
11	chr4:103542400-103617400	Weak transcription	Rectal Smooth Muscle	rectum
12	chr4:103542800-103557200	Weak transcription	Brain Angular Gyrus	brain
13	chr4:103542800-103563800	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr4:103545200-103557200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr4:103545200-103559800	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr4:103545200-103592000	Weak transcription	Fetal Muscle Trunk	muscle
17	chr4:103547000-103658200	Weak transcription	Small Intestine	intestine
18	chr4:103549000-103570400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr4:103549600-103558600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr4:103549600-103561600	Weak transcription	NHDF-Ad	bronchial
21	chr4:103549800-103561600	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr4:103549800-103561600	Weak transcription	Osteobl	bone
23	chr4:103549800-103572000	Weak transcription	Placenta	Placenta
24	chr4:103550200-103582800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr4:103550400-103573000	Weak transcription	Fetal Kidney	kidney
26	chr4:103551000-103562600	Strong transcription	Primary neutrophils fromperipheralblood	blood
27	chr4:103551000-103563000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr4:103551000-103565000	Strong transcription	Primary B cells from cord blood	blood
29	chr4:103551000-103607600	Strong transcription	Primary monocytes fromperipheralblood	blood
30	chr4:103551000-103607800	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr4:103551600-103564000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
32	chr4:103551800-103563200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr4:103552000-103561000	Strong transcription	Stomach Smooth Muscle	stomach
34	chr4:103552000-103562800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr4:103552000-103563400	Strong transcription	Primary B cells from peripheral blood	blood
36	chr4:103552400-103559200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr4:103552400-103560800	Strong transcription	Primary hematopoietic stem cells	blood
38	chr4:103552400-103561200	Strong transcription	Rectal Mucosa Donor 29	rectum
39	chr4:103552400-103561600	Weak transcription	NHEK	skin
40	chr4:103552400-103579600	Weak transcription	Fetal Heart	heart
41	chr4:103552800-103557400	Strong transcription	Aorta	Aorta
42	chr4:103552800-103557400	Strong transcription	Colon Smooth Muscle	Colon
43	chr4:103552800-103558600	Strong transcription	Adipose Nuclei	Adipose
44	chr4:103552800-103558800	Strong transcription	Rectal Mucosa Donor 31	rectum
45	chr4:103552800-103561000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
46	chr4:103552800-103561000	Strong transcription	Left Ventricle	heart
47	chr4:103552800-103561200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr4:103552800-103561200	Strong transcription	Duodenum Smooth Muscle	Duodenum
49	chr4:103552800-103561800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr4:103553000-103651400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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