Variant report

Variant	rs5026473
Chromosome Location	chr4:103554793-103554794
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:103552180..103554817-chr4:103747906..103750209,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000246560	Chromatin interaction
ENSG00000109332	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs1054029	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap]
rs1054037	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs1077358	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap]
rs11724614	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs11727546	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap]
rs12498722	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs12644381	0.96[CEU][hapmap];0.95[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	0.91[JPT][hapmap]
rs179195	0.81[CHB][hapmap];0.82[JPT][hapmap]
rs2125211	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2272695	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs2272696	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs2272697	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs227361	0.81[CEU][hapmap];0.81[CHB][hapmap];0.82[JPT][hapmap]
rs228611	0.92[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap]
rs228614	0.81[CEU][hapmap];0.81[CHB][hapmap];0.82[JPT][hapmap]
rs228617	0.81[CHB][hapmap];0.82[JPT][hapmap]
rs228618	0.81[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap]
rs228619	0.83[JPT][hapmap]
rs228623	0.84[CHB][hapmap]
rs2866407	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs2866412	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs2866413	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs2866414	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][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[JPT][hapmap]
rs3774968	0.83[JPT][hapmap]
rs4013	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs404574	0.83[CEU][hapmap];0.84[CHB][hapmap];0.85[JPT][hapmap]
rs434644	0.81[JPT][hapmap]
rs4496586	0.86[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs4547797	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs4586937	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs5026472	1.00[CEU][hapmap];0.95[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];0.95[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];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs6812747	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs6839064	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs735403	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs735404	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs735405	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs7674640	0.85[CEU][hapmap];0.81[CHB][hapmap]
rs7677509	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs7699231	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs7699678	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs909349	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv822674	chr4:103554603-103555054	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv822676	chr4:103554603-103555149	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv822677	chr4:103554695-103555214	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs5026473	MANBA	cis	multi-tissue	Pritchard

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	chr4:103538200-103555600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr4:103538200-103555600	Weak transcription	Gastric	stomach
6	chr4:103538200-103555800	Weak transcription	Esophagus	oesophagus
7	chr4:103538800-103555600	Weak transcription	Right Ventricle	heart
8	chr4:103538800-103555800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr4:103541800-103562400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr4:103541800-103571000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr4:103542200-103555400	Weak transcription	Brain Cingulate Gyrus	brain
12	chr4:103542200-103555400	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr4:103542200-103555600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr4:103542200-103555600	Weak transcription	Brain Anterior Caudate	brain
15	chr4:103542400-103555400	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr4:103542400-103555600	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr4:103542400-103557200	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr4:103542400-103560800	Weak transcription	Brain Substantia Nigra	brain
19	chr4:103542400-103562200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr4:103542400-103578800	Weak transcription	Psoas Muscle	Psoas
21	chr4:103542400-103594400	Weak transcription	K562	blood
22	chr4:103542400-103617400	Weak transcription	Rectal Smooth Muscle	rectum
23	chr4:103542600-103555800	Weak transcription	Brain Hippocampus Middle	brain
24	chr4:103542800-103557200	Weak transcription	Brain Angular Gyrus	brain
25	chr4:103542800-103563800	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr4:103544200-103555400	Weak transcription	Pancreas	Pancrea
27	chr4:103545200-103555600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr4:103545200-103557200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr4:103545200-103559800	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr4:103545200-103592000	Weak transcription	Fetal Muscle Trunk	muscle
31	chr4:103545800-103555400	Weak transcription	Fetal Stomach	stomach
32	chr4:103547000-103658200	Weak transcription	Small Intestine	intestine
33	chr4:103549000-103570400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr4:103549600-103555600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr4:103549600-103558600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr4:103549600-103561600	Weak transcription	NHDF-Ad	bronchial
37	chr4:103549800-103561600	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr4:103549800-103561600	Weak transcription	Osteobl	bone
39	chr4:103549800-103572000	Weak transcription	Placenta	Placenta
40	chr4:103550200-103582800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr4:103550400-103573000	Weak transcription	Fetal Kidney	kidney
42	chr4:103551000-103562600	Strong transcription	Primary neutrophils fromperipheralblood	blood
43	chr4:103551000-103563000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr4:103551000-103565000	Strong transcription	Primary B cells from cord blood	blood
45	chr4:103551000-103607600	Strong transcription	Primary monocytes fromperipheralblood	blood
46	chr4:103551000-103607800	Strong transcription	Monocytes-CD14+_RO01746	blood
47	chr4:103551600-103564000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
48	chr4:103551800-103563200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr4:103552000-103561000	Strong transcription	Stomach Smooth Muscle	stomach
50	chr4:103552000-103562800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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