Variant report

Variant	rs6556883
Chromosome Location	chr5:95152085-95152086
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:95065571..95068096-chr5:95150283..95152215,2	MCF-7	breast:
2	chr5:95149187..95152215-chr5:95156568..95159390,5	MCF-7	breast:
3	chr5:95151960..95154634-chr5:95154994..95157886,2	K562	blood:
4	chr5:95149457..95151084-chr5:95151205..95153172,2	K562	blood:

Variant related genes	Relation type
ENSG00000164292	Chromatin interaction
ENSG00000173221	Chromatin interaction
ENSG00000250240	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10040697	0.85[CHB][hapmap]
rs12109442	1.00[CHB][hapmap]
rs12651950	0.94[CHB][hapmap]
rs17085159	1.00[CHB][hapmap]
rs17085165	1.00[CHB][hapmap]
rs17085170	0.95[CHB][hapmap]
rs2007	0.95[CEU][hapmap];0.82[CHB][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2546193	0.85[CHB][hapmap]
rs3822751	0.91[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap]
rs4869251	1.00[CHB][hapmap]
rs60682160	0.82[EUR][1000 genomes]
rs7734301	0.85[CHB][hapmap]
rs889225	0.80[AMR][1000 genomes]
rs889226	0.80[AMR][1000 genomes]

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	nsv830409	chr5:95006686-95204496	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv1015180	chr5:95134357-95286446	Strong transcription Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv462255	chr5:95142817-95168155	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv598961	chr5:95142817-95168155	Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	7 gene(s)	inside rSNPs	diseases
5	nsv882389	chr5:95144952-95173887	Strong transcription Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6556883	ERAP1	cis	cerebellum	SCAN
rs6556883	GLRX	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:95115400-95157000	Weak transcription	Aorta	Aorta
2	chr5:95121000-95156800	Weak transcription	Brain Germinal Matrix	brain
3	chr5:95124600-95154400	Weak transcription	Brain Angular Gyrus	brain
4	chr5:95125000-95154400	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr5:95130000-95157400	Weak transcription	Ovary	ovary
6	chr5:95139800-95154200	Weak transcription	Pancreas	Pancrea
7	chr5:95143200-95153600	Genic enhancers	Fetal Thymus	thymus
8	chr5:95145600-95153200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr5:95145600-95154200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr5:95145600-95154400	Weak transcription	Esophagus	oesophagus
11	chr5:95146000-95157200	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr5:95146400-95152600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr5:95146600-95153000	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr5:95146600-95153800	Weak transcription	Brain Substantia Nigra	brain
15	chr5:95146800-95152800	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr5:95146800-95153200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr5:95146800-95157000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr5:95147000-95153400	Weak transcription	NHDF-Ad	bronchial
19	chr5:95147400-95152400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr5:95147600-95152600	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr5:95147600-95152600	Weak transcription	Small Intestine	intestine
22	chr5:95147800-95152600	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
23	chr5:95148000-95152200	Strong transcription	Primary B cells from peripheral blood	blood
24	chr5:95148000-95152600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr5:95148000-95152800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
26	chr5:95148200-95152600	Strong transcription	Muscle Satellite Cultured Cells	--
27	chr5:95148200-95152800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr5:95148200-95152800	Strong transcription	Spleen	Spleen
29	chr5:95148200-95153000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr5:95148200-95153000	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr5:95148200-95153000	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr5:95148200-95153000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr5:95148200-95153000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr5:95148200-95153000	Weak transcription	Fetal Muscle Trunk	muscle
35	chr5:95148200-95153000	Weak transcription	Right Atrium	heart
36	chr5:95148200-95153200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr5:95148200-95153400	Weak transcription	Brain Cingulate Gyrus	brain
38	chr5:95148200-95153800	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr5:95148200-95154400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr5:95148200-95156800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr5:95148200-95157800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr5:95148400-95154000	Weak transcription	A549	lung
43	chr5:95148400-95156400	Weak transcription	Fetal Brain Male	brain
44	chr5:95148400-95156800	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr5:95148600-95152600	Strong transcription	Osteobl	bone
46	chr5:95148600-95152800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr5:95148600-95153000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr5:95149000-95152600	Genic enhancers	Primary T helper cells PMA-I stimulated	--
49	chr5:95149000-95152600	Strong transcription	Adipose Nuclei	Adipose
50	chr5:95149000-95153000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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