Variant report

Variant	rs12644381
Chromosome Location	chr4:103552430-103552431
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: 55 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1054029	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap]
rs1054037	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs1077358	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs11724614	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs11727546	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap]
rs12498722	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs13106304	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs13106325	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs17033015	0.91[JPT][hapmap]
rs179195	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs2125211	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2272695	0.96[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs2272696	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs2272697	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs227276	0.82[CHB][hapmap]
rs227277	0.82[CHB][hapmap]
rs227361	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs228611	0.88[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap]
rs228614	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs228617	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs228618	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs228619	0.82[CHB][hapmap];0.83[JPT][hapmap]
rs228623	0.85[CHB][hapmap]
rs2866407	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs2866412	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2866413	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs2866414	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs2903283	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3733202	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3774968	0.83[JPT][hapmap]
rs4013	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs404574	0.84[CHB][hapmap];0.85[JPT][hapmap]
rs434644	0.82[CHB][hapmap];0.81[JPT][hapmap]
rs4496586	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap]
rs4547797	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs4586937	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs5026472	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs5026473	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs5026474	0.96[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap]
rs5026476	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs6533020	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs6533021	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs6810869	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs6812747	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs6839064	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs735403	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs735404	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs735405	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs7674640	0.89[CEU][hapmap];0.86[CHB][hapmap]
rs7677509	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs7699231	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs7699678	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs909349	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12644381	MANBA	cis	multi-tissue	Pritchard

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:103521400-103554400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:103536200-103552800	Weak transcription	Ovary	ovary
3	chr4:103536200-103595400	Weak transcription	Colonic Mucosa	Colon
4	chr4:103536400-103553400	Weak transcription	Fetal Brain Female	brain
5	chr4:103536600-103562600	Weak transcription	Brain Germinal Matrix	brain
6	chr4:103536600-103595800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr4:103538000-103552800	Weak transcription	Spleen	Spleen
8	chr4:103538200-103555600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr4:103538200-103555600	Weak transcription	Gastric	stomach
10	chr4:103538200-103555800	Weak transcription	Esophagus	oesophagus
11	chr4:103538600-103552800	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr4:103538800-103552800	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr4:103538800-103552800	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr4:103538800-103552800	Weak transcription	Adipose Nuclei	Adipose
15	chr4:103538800-103555600	Weak transcription	Right Ventricle	heart
16	chr4:103538800-103555800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr4:103541800-103562400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr4:103541800-103571000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr4:103542200-103552800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr4:103542200-103552800	Weak transcription	Colon Smooth Muscle	Colon
21	chr4:103542200-103552800	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr4:103542200-103555400	Weak transcription	Brain Cingulate Gyrus	brain
23	chr4:103542200-103555400	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr4:103542200-103555600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr4:103542200-103555600	Weak transcription	Brain Anterior Caudate	brain
26	chr4:103542400-103552800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr4:103542400-103552800	Weak transcription	Fetal Muscle Leg	muscle
28	chr4:103542400-103552800	Weak transcription	Left Ventricle	heart
29	chr4:103542400-103553200	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr4:103542400-103555400	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr4:103542400-103555600	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr4:103542400-103557200	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr4:103542400-103560800	Weak transcription	Brain Substantia Nigra	brain
34	chr4:103542400-103562200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr4:103542400-103578800	Weak transcription	Psoas Muscle	Psoas
36	chr4:103542400-103594400	Weak transcription	K562	blood
37	chr4:103542400-103617400	Weak transcription	Rectal Smooth Muscle	rectum
38	chr4:103542600-103555800	Weak transcription	Brain Hippocampus Middle	brain
39	chr4:103542800-103552800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr4:103542800-103557200	Weak transcription	Brain Angular Gyrus	brain
41	chr4:103542800-103563800	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr4:103543000-103552800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr4:103544200-103555400	Weak transcription	Pancreas	Pancrea
44	chr4:103545200-103552800	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr4:103545200-103554200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr4:103545200-103555600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr4:103545200-103557200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr4:103545200-103559800	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr4:103545200-103592000	Weak transcription	Fetal Muscle Trunk	muscle
50	chr4:103545800-103552800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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