Variant report

Variant	rs10514071
Chromosome Location	chr5:75994211-75994212
allele	A/G
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	IRF1	chr5:75993995-75994224	K562	blood:	n/a	chr5:75994145-75994155

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:75992559..75996761-chr5:76010211..76014083,4	K562	blood:

Variant related genes	Relation type
IQGAP2	TF binding region
ENSG00000225407	Chromatin interaction
ENSG00000181104	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10514070	0.95[CEU][hapmap];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12735	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2227750	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2303162	1.00[CHB][hapmap]
rs3764935	1.00[CHB][hapmap]
rs3815778	1.00[CHB][hapmap]
rs59373894	0.87[ASN][1000 genomes]
rs62363009	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62363038	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6884442	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6887764	0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7725717	1.00[CHB][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	nsv1019669	chr5:75836365-76477788	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv1035135	chr5:75927027-76092058	Strong transcription Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:75945200-76001000	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr5:75946400-76001000	Strong transcription	Primary monocytes fromperipheralblood	blood
3	chr5:75948000-76004600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr5:75950800-75999400	Weak transcription	Ovary	ovary
5	chr5:75951800-76001400	Weak transcription	Rectal Smooth Muscle	rectum
6	chr5:75955000-75996600	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr5:75969800-75999600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr5:75975600-75999600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr5:75977600-76003400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr5:75978400-76001600	Strong transcription	Primary T cells fromperipheralblood	blood
11	chr5:75978400-76004400	Strong transcription	Primary T helper cells fromperipheralblood	blood
12	chr5:75978600-76003400	Strong transcription	Primary T helper cells PMA-I stimulated	--
13	chr5:75979800-75996200	Strong transcription	Liver	Liver
14	chr5:75980600-76002600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr5:75980800-76000200	Strong transcription	Primary hematopoietic stem cells	blood
16	chr5:75981200-76001600	Weak transcription	Primary B cells from peripheral blood	blood
17	chr5:75985800-76004400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr5:75986600-75996800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr5:75986600-76000000	Strong transcription	Primary B cells from cord blood	blood
20	chr5:75987600-75996200	Weak transcription	Fetal Stomach	stomach
21	chr5:75987600-75996600	Weak transcription	Gastric	stomach
22	chr5:75987600-75996800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr5:75987600-76001200	Weak transcription	Small Intestine	intestine
24	chr5:75987800-76001400	Weak transcription	Fetal Lung	lung
25	chr5:75988000-75996800	Weak transcription	NHEK	skin
26	chr5:75988000-75999200	Weak transcription	Stomach Mucosa	stomach
27	chr5:75988200-75995600	Weak transcription	Left Ventricle	heart
28	chr5:75988200-75996600	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr5:75988200-75996800	Weak transcription	NH-A	brain
30	chr5:75988200-75997000	Weak transcription	Spleen	Spleen
31	chr5:75988200-75997000	Weak transcription	Osteobl	bone
32	chr5:75988200-75999400	Strong transcription	Placenta	Placenta
33	chr5:75988200-75999600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr5:75988400-75998600	Strong transcription	Primary T helper naive cells from peripheral blood	blood
35	chr5:75988400-76004600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr5:75988600-76001800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr5:75988600-76007800	Weak transcription	Fetal Intestine Large	intestine
38	chr5:75988800-75996400	Weak transcription	HSMM	muscle
39	chr5:75988800-75996800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr5:75988800-75996800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr5:75988800-75999000	Weak transcription	Fetal Kidney	kidney
42	chr5:75988800-76006600	Weak transcription	Fetal Muscle Trunk	muscle
43	chr5:75988800-76011000	Weak transcription	Lung	lung
44	chr5:75989000-75996000	Weak transcription	Pancreas	Pancrea
45	chr5:75989000-75997800	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr5:75989200-76000000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr5:75989600-76010400	Weak transcription	Fetal Intestine Small	intestine
48	chr5:75990600-75999600	Weak transcription	Adipose Nuclei	Adipose
49	chr5:75990800-75999600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr5:75991000-76000800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood

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