Variant report

Variant	rs27855
Chromosome Location	chr5:127640861-127640862
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs168860	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2042327	0.83[MEX][hapmap]
rs255693	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs255731	0.92[EUR][1000 genomes]
rs26023	1.00[CEU][hapmap];0.93[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs27456	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs32215	0.88[CHD][hapmap]
rs331075	0.84[CHD][hapmap]
rs331076	0.84[CHD][hapmap]
rs331089	0.84[CHD][hapmap]
rs331090	0.84[CHD][hapmap]
rs40487	0.85[CHB][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	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

Variant related diseases (count:1)

Disease	PMID	Source
Height	21998595	GWAS catalog

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127589000-127670200	Weak transcription	NHDF-Ad	bronchial
2	chr5:127612800-127662400	Weak transcription	HUVEC	blood vessel
3	chr5:127614600-127644800	Weak transcription	Ovary	ovary
4	chr5:127614600-127661000	Weak transcription	Fetal Kidney	kidney
5	chr5:127622800-127662000	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr5:127624600-127663600	Weak transcription	A549	lung
7	chr5:127624800-127644000	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr5:127624800-127648000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr5:127625000-127662200	Weak transcription	Fetal Intestine Large	intestine
10	chr5:127626000-127664400	Weak transcription	Right Ventricle	heart
11	chr5:127626600-127664200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr5:127634400-127656200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr5:127635000-127641800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr5:127635200-127646600	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr5:127635600-127645600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr5:127635600-127654800	Strong transcription	Placenta	Placenta
17	chr5:127635800-127641600	Strong transcription	HMEC	breast
18	chr5:127636200-127648000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr5:127636200-127648800	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr5:127636600-127642800	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr5:127636600-127643800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr5:127636600-127661800	Weak transcription	Fetal Muscle Trunk	muscle
23	chr5:127636800-127644800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr5:127636800-127647800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr5:127637600-127641600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr5:127637600-127641600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr5:127638200-127645800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr5:127638200-127685000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr5:127638400-127641000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr5:127638600-127644000	Weak transcription	Fetal Heart	heart
31	chr5:127639400-127641000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr5:127639600-127641400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr5:127639600-127641400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr5:127639600-127642600	Strong transcription	HUES6 Cell Line	embryonic stem cell
35	chr5:127640000-127641000	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr5:127640000-127641400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
37	chr5:127640000-127641800	Strong transcription	Fetal Lung	lung
38	chr5:127640000-127645600	Weak transcription	Osteobl	bone
39	chr5:127640000-127647000	Strong transcription	HUES64 Cell Line	embryonic stem cell
40	chr5:127640200-127641600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr5:127640200-127641600	Genic enhancers	NHEK	skin
42	chr5:127640200-127661400	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr5:127640400-127641400	Enhancers	Left Ventricle	heart
44	chr5:127640400-127647600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr5:127640400-127656200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr5:127640600-127641600	Genic enhancers	NH-A	brain
47	chr5:127640600-127662000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr5:127640800-127641600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr5:127640800-127641600	Strong transcription	Fetal Muscle Leg	muscle
50	chr5:127640800-127644000	Weak transcription	Muscle Satellite Cultured Cells	--

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