Variant report

Variant	rs11241322
Chromosome Location	chr5:114702503-114702504
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:114684315..114686804-chr5:114699761..114703151,3	MCF-7	breast:
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: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10477531	0.92[CEU][hapmap];0.84[GIH][hapmap];0.92[MEX][hapmap];0.83[TSI][hapmap];0.84[EUR][1000 genomes]
rs11740600	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11745205	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13162208	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17137667	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17137708	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17383755	0.89[LWK][hapmap];0.80[TSI][hapmap];0.92[YRI][hapmap];0.81[AFR][1000 genomes]
rs17383865	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2016888	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.95[GIH][hapmap];0.85[JPT][hapmap];0.88[MEX][hapmap];0.95[TSI][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2198712	0.96[CEU][hapmap];0.82[CHB][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2925170	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2925172	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap];0.89[TSI][hapmap];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2963747	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2963749	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2963758	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap];0.89[TSI][hapmap];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2963765	0.80[EUR][1000 genomes]
rs2964560	0.81[EUR][1000 genomes]
rs35389100	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6887728	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs751485	0.84[ASW][hapmap];1.00[CEU][hapmap];0.82[CHB][hapmap];0.95[GIH][hapmap];0.88[MEX][hapmap];0.95[TSI][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7714928	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs897478	1.00[CEU][hapmap];0.81[CHB][hapmap];0.91[AMR][1000 genomes];0.95[EUR][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:39 , 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	chr5:114699600-114702600	Enhancers	Fetal Muscle Leg	muscle
3	chr5:114699800-114706600	Weak transcription	Gastric	stomach
4	chr5:114700000-114703000	Enhancers	HUVEC	blood vessel
5	chr5:114700000-114704200	Weak transcription	Fetal Muscle Trunk	muscle
6	chr5:114700200-114715800	Weak transcription	Pancreas	Pancrea
7	chr5:114701000-114703000	Enhancers	NHDF-Ad	bronchial
8	chr5:114701200-114703000	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr5:114701400-114702600	Enhancers	Muscle Satellite Cultured Cells	--
10	chr5:114701400-114702600	Enhancers	Hela-S3	cervix
11	chr5:114701400-114702600	Enhancers	HMEC	breast
12	chr5:114701400-114702600	Enhancers	NH-A	brain
13	chr5:114701400-114702600	Enhancers	NHEK	skin
14	chr5:114701400-114702800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr5:114701400-114702800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr5:114701400-114703000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr5:114701400-114703000	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr5:114701400-114703000	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr5:114701400-114703400	Enhancers	HSMM	muscle
20	chr5:114701600-114702600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr5:114701600-114702600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr5:114701600-114702600	Enhancers	A549	lung
23	chr5:114701600-114702600	Enhancers	Osteobl	bone
24	chr5:114701800-114702600	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr5:114702000-114702600	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr5:114702000-114704200	Weak transcription	Placenta	Placenta
27	chr5:114702000-114704200	Weak transcription	Right Ventricle	heart
28	chr5:114702000-114707600	Weak transcription	Psoas Muscle	Psoas
29	chr5:114702000-114717800	Weak transcription	Right Atrium	heart
30	chr5:114702200-114702600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr5:114702200-114704200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr5:114702200-114704400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr5:114702200-114711400	Weak transcription	Left Ventricle	heart
34	chr5:114702400-114702600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
35	chr5:114702400-114702600	Flanking Active TSS	HSMMtube	muscle
36	chr5:114702400-114704400	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr5:114702400-114704600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr5:114702400-114707600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr5:114702400-114707600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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