Variant report

Variant	rs331069
Chromosome Location	chr5:127725467-127725468
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs151987	0.94[CHD][hapmap]
rs194276	0.85[ASN][1000 genomes]
rs255690	0.94[CHD][hapmap]
rs255691	0.94[CHD][hapmap]
rs26024	0.90[CHB][hapmap];0.94[CHD][hapmap]
rs27457	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs27754	0.80[CHB][hapmap];0.88[CHD][hapmap];0.83[GIH][hapmap]
rs28114	0.81[CEU][hapmap];0.80[CHB][hapmap];0.88[CHD][hapmap];0.90[GIH][hapmap]
rs32217	0.90[CHB][hapmap];0.88[CHD][hapmap]
rs32238	0.90[CHB][hapmap];0.88[CHD][hapmap]
rs331071	1.00[CHD][hapmap];0.84[ASN][1000 genomes]
rs331072	0.96[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs331073	0.84[ASN][1000 genomes]
rs331076	0.93[ASW][hapmap];0.82[CEU][hapmap];0.93[GIH][hapmap];0.87[MEX][hapmap];0.84[YRI][hapmap];0.81[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs331077	0.84[AFR][1000 genomes]
rs331089	0.82[CEU][hapmap];0.93[GIH][hapmap]
rs331090	0.93[ASW][hapmap];0.82[CEU][hapmap];0.93[GIH][hapmap]
rs331091	1.00[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap];0.95[YRI][hapmap];0.96[AFR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs331094	0.92[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.83[MEX][hapmap];0.95[TSI][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs331096	0.90[CHB][hapmap];1.00[CHD][hapmap];0.89[ASN][1000 genomes]
rs331099	0.90[ASN][1000 genomes]
rs39941	0.94[CHD][hapmap]
rs42281	0.89[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs331069	ISOC1	cis	parietal	SCAN

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127672000-127746000	Weak transcription	NHDF-Ad	bronchial
2	chr5:127675600-127742200	Weak transcription	Fetal Intestine Small	intestine
3	chr5:127679200-127731200	Weak transcription	Right Ventricle	heart
4	chr5:127686000-127738400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr5:127686000-127742000	Weak transcription	A549	lung
6	chr5:127695200-127737800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr5:127696800-127738200	Weak transcription	Fetal Lung	lung
8	chr5:127704800-127741800	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr5:127705000-127730200	Weak transcription	Fetal Intestine Large	intestine
10	chr5:127705800-127731200	Weak transcription	Left Ventricle	heart
11	chr5:127713200-127727600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr5:127714600-127743000	Weak transcription	HMEC	breast
13	chr5:127716600-127744800	Weak transcription	Fetal Kidney	kidney
14	chr5:127720000-127739000	Weak transcription	NHEK	skin
15	chr5:127720400-127729400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr5:127720800-127725600	Strong transcription	Placenta	Placenta
17	chr5:127722800-127728000	Weak transcription	NH-A	brain
18	chr5:127723600-127732200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr5:127723800-127726000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr5:127724000-127726000	Strong transcription	Muscle Satellite Cultured Cells	--
21	chr5:127724000-127727800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr5:127724000-127728400	Strong transcription	Fetal Heart	heart
23	chr5:127724200-127726000	Strong transcription	Fetal Muscle Leg	muscle
24	chr5:127724200-127738600	Weak transcription	Fetal Brain Female	brain
25	chr5:127724400-127735200	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr5:127724600-127725800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr5:127724800-127725600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr5:127724800-127725600	Strong transcription	Fetal Stomach	stomach
29	chr5:127724800-127725800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr5:127724800-127725800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr5:127724800-127726000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr5:127724800-127731800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr5:127725000-127725800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr5:127725000-127725800	Strong transcription	Cortex derived primary cultured neurospheres	brain
35	chr5:127725000-127726800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr5:127725000-127727800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr5:127725200-127725600	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr5:127725200-127725800	Strong transcription	Fetal Muscle Trunk	muscle
39	chr5:127725200-127726200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr5:127725400-127729200	Strong transcription	Primary monocytes fromperipheralblood	blood
41	chr5:127725400-127738400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr5:127725400-127743000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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