Variant report

Variant	rs11746242
Chromosome Location	chr5:35991039-35991040
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10040617	0.86[JPT][hapmap]
rs1122533	0.90[CEU][hapmap];0.88[JPT][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12189267	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13183231	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1348705	0.91[CEU][hapmap];0.81[CHB][hapmap];0.88[JPT][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1445895	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1600184	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16902679	1.00[ASW][hapmap];0.82[LWK][hapmap];0.83[MKK][hapmap];0.85[YRI][hapmap];0.84[AFR][1000 genomes]
rs2044416	0.91[CEU][hapmap];0.82[CHB][hapmap];0.93[GIH][hapmap];0.88[JPT][hapmap];0.83[MEX][hapmap];0.95[TSI][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4024104	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4024105	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4585480	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62352018	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62352022	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7702219	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7722218	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7727279	0.86[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv471011	chr5:35861068-36003217	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv830261	chr5:35863084-36018048	Weak transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1025695	chr5:35902486-36036934	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	esv3347042	chr5:35965538-36049066	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:35988200-35991800	Active TSS	Fetal Intestine Large	intestine
2	chr5:35988600-35992200	Active TSS	Fetal Kidney	kidney
3	chr5:35990000-35991800	Active TSS	Fetal Intestine Small	intestine
4	chr5:35990200-35991400	Active TSS	Duodenum Mucosa	Duodenum
5	chr5:35990200-35991600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
6	chr5:35990200-35991800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr5:35990200-35992000	Active TSS	Skeletal Muscle Male	skeletal muscle
8	chr5:35990400-35991200	Active TSS	Liver	Liver
9	chr5:35990400-35991600	Active TSS	Skeletal Muscle Female	skeletal muscle
10	chr5:35990400-35991800	Active TSS	H9 Cell Line	embryonic stem cell
11	chr5:35990400-35991800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
12	chr5:35990400-35991800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
13	chr5:35990400-35991800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
14	chr5:35990600-35991600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr5:35990600-35991600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr5:35990600-35991600	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
17	chr5:35990600-35991600	Active TSS	Psoas Muscle	Psoas
18	chr5:35990800-35991200	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr5:35990800-35991200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr5:35990800-35991200	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr5:35990800-35991400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
22	chr5:35990800-35991600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr5:35990800-35991600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
24	chr5:35990800-35991600	Active TSS	iPS-18 Cell Line	embryonic stem cell
25	chr5:35990800-35991600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr5:35991000-35991400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
27	chr5:35991000-35991400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr5:35991000-35991600	Active TSS	H1 Cell Line	embryonic stem cell
29	chr5:35991000-35991600	Active TSS	Fetal Muscle Leg	muscle

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