Variant report

Variant	rs11241323
Chromosome Location	chr5:114703188-114703189
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:114702805..114704848-chr5:114889870..114892622,2	K562	blood:
2	chr5:114630803..114632408-chr5:114701382..114703629,2	MCF-7	breast:
3	chr5:114701068..114703742-chr5:114706747..114709542,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164221	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10447263	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10463669	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10519405	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10519406	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11241320	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12516512	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12519220	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12654590	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12657417	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1445697	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1455849	0.80[CEU][hapmap];0.85[CHB][hapmap];0.94[JPT][hapmap];0.83[ASN][1000 genomes]
rs1455850	0.80[CEU][hapmap];0.85[CHB][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs166566	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17137700	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2416401	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2416402	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2416403	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2416404	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2416406	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2591258	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2605178	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2605179	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs269503	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs269504	0.81[EUR][1000 genomes]
rs269505	0.81[EUR][1000 genomes]
rs269506	0.81[EUR][1000 genomes]
rs269510	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2900093	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34919660	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35900499	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4705524	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4705733	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56177976	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7703838	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7704303	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7715232	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7721559	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7733943	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916273	chr5:114656592-115089901	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	esv2757132	chr5:114697260-114737583	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	esv2759370	chr5:114697260-114737583	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv882731	chr5:114702503-114721081	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
5	nsv882732	chr5:114702503-114722599	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
6	nsv882733	chr5:114702503-114726351	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:114696800-114704200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr5:114699800-114706600	Weak transcription	Gastric	stomach
3	chr5:114700000-114704200	Weak transcription	Fetal Muscle Trunk	muscle
4	chr5:114700200-114715800	Weak transcription	Pancreas	Pancrea
5	chr5:114701400-114703400	Enhancers	HSMM	muscle
6	chr5:114702000-114704200	Weak transcription	Placenta	Placenta
7	chr5:114702000-114704200	Weak transcription	Right Ventricle	heart
8	chr5:114702000-114707600	Weak transcription	Psoas Muscle	Psoas
9	chr5:114702000-114717800	Weak transcription	Right Atrium	heart
10	chr5:114702200-114704200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr5:114702200-114704400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr5:114702200-114711400	Weak transcription	Left Ventricle	heart
13	chr5:114702400-114704400	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr5:114702400-114704600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr5:114702400-114707600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr5:114702400-114707600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr5:114702600-114704400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr5:114702600-114704600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr5:114702600-114704800	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr5:114702600-114707600	Weak transcription	Hela-S3	cervix
21	chr5:114702600-114707600	Weak transcription	NHEK	skin
22	chr5:114702600-114707600	Weak transcription	Osteobl	bone
23	chr5:114702600-114707800	Weak transcription	HMEC	breast
24	chr5:114702600-114712000	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr5:114702600-114712800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr5:114702600-114713000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr5:114702800-114707000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr5:114702800-114707800	Weak transcription	HSMMtube	muscle
29	chr5:114703000-114707600	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr5:114703000-114707600	Weak transcription	NHDF-Ad	bronchial
31	chr5:114703000-114707800	Weak transcription	Skeletal Muscle Female	skeletal muscle

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