Variant report

Variant	rs11241498
Chromosome Location	chr5:118588003-118588004
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:118586532..118588054-chr5:118602135..118604215,2	K562	blood:
2	chr5:118583005..118584543-chr5:118587332..118589504,2	K562	blood:
3	chr5:118567020..118569794-chr5:118587970..118590169,2	K562	blood:
4	chr5:118581886..118584543-chr5:118587332..118589504,3	K562	blood:
5	chr5:118580319..118581889-chr5:118587199..118590009,2	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10040870	0.85[ASN][1000 genomes]
rs10052879	1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap];0.90[ASN][1000 genomes]
rs10064311	1.00[JPT][hapmap]
rs10071407	1.00[JPT][hapmap]
rs10900727	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11241492	0.96[CEU][hapmap]
rs11241499	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12516300	0.92[CEU][hapmap];0.98[TSI][hapmap]
rs12653870	0.95[MEX][hapmap]
rs1394629	1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs1553544	1.00[CEU][hapmap];0.84[GIH][hapmap];0.91[TSI][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2404395	0.95[ASN][1000 genomes]
rs2404396	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2404398	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3923326	0.96[CEU][hapmap];0.93[TSI][hapmap]
rs4286709	1.00[JPT][hapmap]
rs4380699	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4583917	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.83[TSI][hapmap];0.80[ASN][1000 genomes]
rs4895185	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6595174	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.86[TSI][hapmap]
rs6595176	0.96[CEU][hapmap]
rs6595178	1.00[JPT][hapmap]
rs6595179	0.85[ASN][1000 genomes]
rs6863826	0.93[CEU][hapmap];0.87[GIH][hapmap];0.95[MEX][hapmap];0.93[TSI][hapmap]
rs6874227	0.93[CEU][hapmap];0.93[TSI][hapmap]
rs6880622	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.84[TSI][hapmap];0.80[ASN][1000 genomes]
rs6889308	1.00[JPT][hapmap]
rs7702867	0.85[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7720231	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7734532	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9327087	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9327093	1.00[JPT][hapmap]
rs9790885	0.90[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv462426	chr5:118465249-118621672	Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv599564	chr5:118465249-118621672	ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv1016595	chr5:118468658-118621672	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv1019788	chr5:118488501-118607405	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv537882	chr5:118488501-118607405	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv1034616	chr5:118506348-118600391	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
7	nsv1031914	chr5:118516878-118589497	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
8	esv2757136	chr5:118555863-118667748	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
9	esv2759374	chr5:118555863-118667748	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118486000-118588600	Weak transcription	Right Ventricle	heart
2	chr5:118489800-118591200	Weak transcription	Colonic Mucosa	Colon
3	chr5:118514400-118589000	Weak transcription	Pancreas	Pancrea
4	chr5:118514400-118591400	Weak transcription	Esophagus	oesophagus
5	chr5:118535000-118588200	Weak transcription	Lung	lung
6	chr5:118535000-118589000	Weak transcription	Aorta	Aorta
7	chr5:118538200-118590600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr5:118539200-118590000	Weak transcription	Fetal Kidney	kidney
9	chr5:118539200-118591000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr5:118544600-118591400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr5:118550000-118588800	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr5:118555200-118588800	Weak transcription	NHDF-Ad	bronchial
13	chr5:118555200-118590800	Weak transcription	Hela-S3	cervix
14	chr5:118557400-118591400	Weak transcription	HepG2	liver
15	chr5:118558400-118588400	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr5:118558600-118588800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr5:118559400-118589800	Weak transcription	HSMM	muscle
18	chr5:118566000-118589200	Weak transcription	A549	lung
19	chr5:118570200-118590400	Weak transcription	Left Ventricle	heart
20	chr5:118570400-118588600	Weak transcription	Brain Angular Gyrus	brain
21	chr5:118570800-118589000	Weak transcription	GM12878-XiMat	blood
22	chr5:118570800-118589600	Weak transcription	Fetal Brain Female	brain
23	chr5:118570800-118590200	Weak transcription	Fetal Muscle Leg	muscle
24	chr5:118570800-118590800	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr5:118570800-118591000	Weak transcription	Thymus	Thymus
26	chr5:118571200-118591400	Weak transcription	Placenta	Placenta
27	chr5:118571400-118588600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr5:118571600-118589000	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr5:118571600-118589600	Weak transcription	Fetal Lung	lung
30	chr5:118571800-118591000	Weak transcription	Fetal Heart	heart
31	chr5:118572000-118588800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr5:118575200-118589200	Weak transcription	Dnd41	blood
33	chr5:118577200-118590200	Weak transcription	Fetal Intestine Small	intestine
34	chr5:118577200-118590800	Weak transcription	Fetal Stomach	stomach
35	chr5:118577400-118591600	Weak transcription	Gastric	stomach
36	chr5:118577800-118588400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr5:118580400-118588200	Weak transcription	Ovary	ovary
38	chr5:118580400-118591400	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr5:118580400-118591400	Weak transcription	K562	blood
40	chr5:118581000-118588800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr5:118581000-118590200	Weak transcription	Fetal Intestine Large	intestine
42	chr5:118582200-118589000	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr5:118583000-118588600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr5:118583000-118591400	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr5:118583200-118588800	Weak transcription	Fetal Thymus	thymus
46	chr5:118583200-118590200	Weak transcription	Primary B cells from peripheral blood	blood
47	chr5:118583400-118589400	Weak transcription	Primary monocytes fromperipheralblood	blood
48	chr5:118583400-118590200	Weak transcription	Duodenum Mucosa	Duodenum
49	chr5:118583400-118594600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr5:118583600-118589200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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