Variant report

Variant	rs6877610
Chromosome Location	chr5:60691073-60691074
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr5:60691056-60691178	K562	blood:	n/a	n/a
2	CEBPB	chr5:60691008-60691478	Hela-S3	cervix:	n/a	chr5:60691309-60691322 chr5:60691309-60691322 chr5:60691309-60691322

Variant related genes	Relation type
RPL3P6	TF binding region

Extended variants
information (count: 100 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:99)

rs_ID	r²[population]
rs10041978	0.86[ASN][1000 genomes]
rs1045352	0.80[CHB][hapmap];0.94[JPT][hapmap];0.80[ASN][1000 genomes]
rs10939900	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10939901	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10939902	0.99[ASN][1000 genomes]
rs10939903	0.86[ASN][1000 genomes]
rs10939905	0.80[ASN][1000 genomes]
rs11742658	0.80[ASN][1000 genomes]
rs11743711	0.88[ASN][1000 genomes]
rs11747564	0.80[ASN][1000 genomes]
rs11749200	0.81[CHB][hapmap];0.94[JPT][hapmap];0.80[ASN][1000 genomes]
rs11750589	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11950318	0.84[ASN][1000 genomes]
rs11952146	0.80[CHB][hapmap];0.94[JPT][hapmap];0.80[ASN][1000 genomes]
rs11954430	0.82[ASN][1000 genomes]
rs12187112	0.94[ASN][1000 genomes]
rs12188627	0.93[ASN][1000 genomes]
rs12189001	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12518479	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12520628	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12522647	0.86[ASN][1000 genomes]
rs13156100	0.80[ASN][1000 genomes]
rs13157657	0.82[ASN][1000 genomes]
rs13157831	0.80[ASN][1000 genomes]
rs13158675	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13160801	0.82[ASN][1000 genomes]
rs13162358	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13163970	0.82[ASN][1000 genomes]
rs13169711	1.00[ASN][1000 genomes]
rs13170135	0.98[ASN][1000 genomes]
rs13170262	0.82[ASN][1000 genomes]
rs13171497	0.80[ASN][1000 genomes]
rs13171757	0.88[ASN][1000 genomes]
rs13172080	0.82[ASN][1000 genomes]
rs13172084	0.81[CHB][hapmap];0.94[JPT][hapmap];0.80[ASN][1000 genomes]
rs13178686	0.85[YRI][hapmap];0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13179091	0.80[ASN][1000 genomes]
rs13181015	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13185068	0.80[ASN][1000 genomes]
rs13186194	0.80[CHB][hapmap];0.94[JPT][hapmap];0.85[ASN][1000 genomes]
rs13188327	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13188685	0.80[ASN][1000 genomes]
rs1348716	0.82[ASN][1000 genomes]
rs1374043	0.82[ASN][1000 genomes]
rs1445976	0.80[ASN][1000 genomes]
rs1445979	0.86[ASN][1000 genomes]
rs1445980	0.80[ASN][1000 genomes]
rs1445981	0.80[ASN][1000 genomes]
rs1477355	0.86[ASN][1000 genomes]
rs1986252	0.82[ASN][1000 genomes]
rs2034239	0.80[ASN][1000 genomes]
rs2053693	0.80[ASN][1000 genomes]
rs2053694	0.80[ASN][1000 genomes]
rs2276987	0.80[CHB][hapmap];0.94[JPT][hapmap];0.80[ASN][1000 genomes]
rs28610339	0.99[ASN][1000 genomes]
rs34739794	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35262187	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4276369	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4392578	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4484384	1.00[CEU][hapmap];0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4604142	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs5027472	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55838118	0.80[ASN][1000 genomes]
rs56035042	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60529601	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60886975	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62368660	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6449527	0.81[CEU][hapmap]
rs6449528	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6449529	1.00[ASN][1000 genomes]
rs6449530	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6449531	0.99[ASN][1000 genomes]
rs6449532	0.99[ASN][1000 genomes]
rs6449533	0.99[ASN][1000 genomes]
rs6449535	0.86[ASN][1000 genomes]
rs66775554	0.80[ASN][1000 genomes]
rs6860608	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6865624	0.80[ASN][1000 genomes]
rs6873712	0.81[CHB][hapmap];0.94[JPT][hapmap]
rs6874264	0.80[ASN][1000 genomes]
rs6878927	0.80[CHB][hapmap];0.94[JPT][hapmap]
rs6879809	0.81[CHB][hapmap];0.94[JPT][hapmap];0.80[ASN][1000 genomes]
rs6881765	0.94[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6885005	0.99[ASN][1000 genomes]
rs6890351	0.81[CHB][hapmap];0.94[JPT][hapmap];0.80[ASN][1000 genomes]
rs6894675	0.99[ASN][1000 genomes]
rs6895046	0.82[ASN][1000 genomes]
rs7443602	0.80[ASN][1000 genomes]
rs7700289	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7701440	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs7709645	0.99[ASN][1000 genomes]
rs7714457	0.82[ASN][1000 genomes]
rs7714712	0.99[ASN][1000 genomes]
rs7717082	0.82[ASN][1000 genomes]
rs7719647	0.82[ASN][1000 genomes]
rs7722810	0.87[ASN][1000 genomes]
rs7724551	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs7727824	0.99[ASN][1000 genomes]
rs7734879	0.99[ASN][1000 genomes]

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	nsv1028884	chr5:60414723-60732779	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:60659000-60703800	Weak transcription	Primary B cells from cord blood	blood
2	chr5:60659400-60703600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:60659600-60697600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr5:60675400-60692800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr5:60675800-60692800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr5:60681200-60704000	Weak transcription	Brain Germinal Matrix	brain
7	chr5:60682000-60709800	Weak transcription	Left Ventricle	heart
8	chr5:60682200-60695600	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr5:60682400-60695800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr5:60682400-60697800	Weak transcription	Fetal Kidney	kidney
11	chr5:60682400-60698800	Weak transcription	Small Intestine	intestine
12	chr5:60682600-60695800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr5:60682600-60703600	Weak transcription	Rectal Smooth Muscle	rectum
14	chr5:60682600-60704200	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr5:60682600-60712400	Weak transcription	Esophagus	oesophagus
16	chr5:60682800-60693200	Weak transcription	Fetal Muscle Leg	muscle
17	chr5:60683000-60696800	Weak transcription	HSMMtube	muscle
18	chr5:60684600-60696800	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr5:60685000-60693000	Weak transcription	NH-A	brain
20	chr5:60685000-60696400	Weak transcription	Colon Smooth Muscle	Colon
21	chr5:60685400-60704000	Weak transcription	Primary B cells from peripheral blood	blood
22	chr5:60685800-60695400	Weak transcription	Fetal Brain Male	brain
23	chr5:60686400-60697600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr5:60687400-60703600	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr5:60687400-60705800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr5:60687600-60692000	Weak transcription	Fetal Intestine Large	intestine
27	chr5:60687600-60692800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr5:60687600-60695800	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr5:60687600-60697000	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr5:60687600-60697000	Weak transcription	HSMM	muscle
31	chr5:60687600-60697600	Weak transcription	Fetal Brain Female	brain
32	chr5:60687600-60697600	Weak transcription	Fetal Lung	lung
33	chr5:60687600-60704400	Weak transcription	Ovary	ovary
34	chr5:60687600-60711800	Weak transcription	Aorta	Aorta
35	chr5:60687800-60698600	Weak transcription	Primary hematopoietic stem cells	blood
36	chr5:60687800-60699400	Weak transcription	Fetal Stomach	stomach
37	chr5:60687800-60703800	Weak transcription	Stomach Smooth Muscle	stomach
38	chr5:60687800-60704200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr5:60688000-60693800	Weak transcription	Fetal Intestine Small	intestine
40	chr5:60688000-60696800	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr5:60688000-60697200	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr5:60688400-60692800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr5:60689400-60691200	Enhancers	Pancreas	Pancrea
44	chr5:60689600-60691400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr5:60689600-60693400	Enhancers	NHDF-Ad	bronchial
46	chr5:60689600-60696000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr5:60689800-60691400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr5:60690000-60691200	Enhancers	Brain Hippocampus Middle	brain
49	chr5:60690000-60691400	Enhancers	Brain Anterior Caudate	brain
50	chr5:60690000-60691400	Enhancers	Brain Substantia Nigra	brain

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