Variant report

Variant	rs171527
Chromosome Location	chr5:127662706-127662707
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs151987	0.90[CHB][hapmap];0.88[JPT][hapmap];0.90[ASN][1000 genomes]
rs153995	0.83[EUR][1000 genomes]
rs255690	0.90[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.90[ASN][1000 genomes]
rs255691	0.94[CEU][hapmap];0.90[CHB][hapmap];0.88[JPT][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs26378	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28114	0.86[ASN][1000 genomes]
rs32217	1.00[YRI][hapmap]
rs32223	0.94[CEU][hapmap];0.90[CHB][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs331096	0.88[CEU][hapmap];0.82[EUR][1000 genomes]
rs39941	0.90[CHB][hapmap];0.88[JPT][hapmap];0.90[ASN][1000 genomes]
rs414540	0.94[CEU][hapmap];0.90[CHB][hapmap];0.88[JPT][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs458882	0.90[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs463035	0.91[ASN][1000 genomes]
rs467928	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs469070	0.90[CHB][hapmap];0.93[ASN][1000 genomes]
rs469722	0.90[CHB][hapmap];0.88[JPT][hapmap];0.98[ASN][1000 genomes]
rs586115	0.94[CEU][hapmap];1.00[CHB][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs612993	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]

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	nsv830482	chr5:127475398-127665377	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
2	nsv599697	chr5:127563563-127731210	Weak transcription Active TSS Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
3	nsv830483	chr5:127595570-127705124	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
4	nsv531991	chr5:127624564-127966085	Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127589000-127670200	Weak transcription	NHDF-Ad	bronchial
2	chr5:127624600-127663600	Weak transcription	A549	lung
3	chr5:127626000-127664400	Weak transcription	Right Ventricle	heart
4	chr5:127626600-127664200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr5:127638200-127685000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr5:127641400-127664000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr5:127645200-127664200	Weak transcription	Ovary	ovary
8	chr5:127648600-127664200	Weak transcription	Left Ventricle	heart
9	chr5:127655600-127667000	Weak transcription	NHEK	skin
10	chr5:127657400-127685000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr5:127658000-127683600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr5:127659200-127663800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr5:127659200-127664000	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr5:127659200-127693600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr5:127659200-127693800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr5:127660600-127668000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr5:127660600-127668000	Weak transcription	Hela-S3	cervix
18	chr5:127660600-127683800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr5:127660600-127687000	Weak transcription	Fetal Brain Female	brain
20	chr5:127661000-127663200	Strong transcription	Fetal Kidney	kidney
21	chr5:127661000-127665000	Strong transcription	Fetal Heart	heart
22	chr5:127661000-127667400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
23	chr5:127661000-127675800	Strong transcription	HUES64 Cell Line	embryonic stem cell
24	chr5:127661200-127664200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr5:127661200-127665600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr5:127661200-127674800	Strong transcription	Muscle Satellite Cultured Cells	--
27	chr5:127661200-127675600	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr5:127661200-127683800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr5:127661200-127693000	Weak transcription	NHLF	lung
30	chr5:127661200-127693600	Strong transcription	Placenta	Placenta
31	chr5:127661400-127664200	Strong transcription	NH-A	brain
32	chr5:127661400-127667200	Strong transcription	Cortex derived primary cultured neurospheres	brain
33	chr5:127661600-127666400	Strong transcription	HMEC	breast
34	chr5:127661800-127662800	Strong transcription	Fetal Muscle Trunk	muscle
35	chr5:127661800-127663200	Strong transcription	Fetal Muscle Leg	muscle
36	chr5:127661800-127664600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr5:127661800-127665400	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr5:127661800-127675000	Strong transcription	Primary monocytes fromperipheralblood	blood
39	chr5:127661800-127683600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr5:127662000-127662800	Strong transcription	Placenta Amnion	Placenta Amnion
41	chr5:127662000-127665400	Weak transcription	Osteobl	bone
42	chr5:127662000-127666400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr5:127662000-127667400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr5:127662000-127674400	Weak transcription	Fetal Intestine Small	intestine
45	chr5:127662000-127681400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr5:127662200-127663200	Strong transcription	Fetal Intestine Large	intestine
47	chr5:127662200-127664600	Strong transcription	Fetal Stomach	stomach
48	chr5:127662400-127663000	Strong transcription	Fetal Lung	lung
49	chr5:127662400-127663200	Strong transcription	HUVEC	blood vessel
50	chr5:127662400-127665000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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