Variant report

Variant	rs13182946
Chromosome Location	chr5:52114290-52114291
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10512992	0.81[JPT][hapmap]
rs11742326	0.80[CEU][hapmap]
rs12652120	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12653042	0.83[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13158244	1.00[CEU][hapmap];0.82[YRI][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13188662	0.96[CEU][hapmap];0.84[CHB][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13189629	0.96[CEU][hapmap];0.84[CHB][hapmap];0.81[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2454581	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2938796	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6879140	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6883810	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[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	esv2754787	chr5:51688543-52193243	Enhancers Active TSS Genic enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv462187	chr5:51758804-52333420	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv598163	chr5:51758804-52333420	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv471013	chr5:51779197-52339114	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv1020640	chr5:52058830-52120858	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv830295	chr5:52084532-52257696	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:52099000-52118000	Weak transcription	Right Ventricle	heart
2	chr5:52099800-52118200	Weak transcription	Psoas Muscle	Psoas
3	chr5:52106200-52115600	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr5:52106200-52132600	Weak transcription	Lung	lung
5	chr5:52106600-52114600	Weak transcription	Fetal Kidney	kidney
6	chr5:52108000-52123000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr5:52108800-52118400	Weak transcription	Aorta	Aorta
8	chr5:52109800-52123200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr5:52110000-52118200	Weak transcription	NHLF	lung
10	chr5:52110200-52118000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr5:52110200-52118200	Weak transcription	Left Ventricle	heart
12	chr5:52110200-52118200	Weak transcription	Right Atrium	heart
13	chr5:52111200-52118000	Weak transcription	Small Intestine	intestine
14	chr5:52111400-52117400	Weak transcription	Adipose Nuclei	Adipose
15	chr5:52111400-52118200	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr5:52111600-52117200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr5:52111600-52117200	Weak transcription	Fetal Lung	lung
18	chr5:52112400-52115000	Enhancers	Liver	Liver
19	chr5:52112400-52118000	Weak transcription	Fetal Stomach	stomach
20	chr5:52112600-52114800	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr5:52112800-52114600	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr5:52112800-52114600	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr5:52112800-52114600	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr5:52113200-52114600	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr5:52113200-52117200	Weak transcription	Rectal Smooth Muscle	rectum
26	chr5:52113400-52117600	Weak transcription	Stomach Smooth Muscle	stomach
27	chr5:52113800-52114600	Enhancers	Colon Smooth Muscle	Colon
28	chr5:52114000-52114400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr5:52114000-52114400	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr5:52114000-52114800	Enhancers	ES-I3 Cell Line	embryonic stem cell

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