Variant report

Variant	rs469750
Chromosome Location	chr5:127637634-127637635
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1086260	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs190450	0.95[CEU][hapmap];0.90[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs194277	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs255695	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs32205	1.00[CEU][hapmap];0.90[CHB][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs32216	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[TSI][hapmap];0.86[YRI][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs364671	0.85[JPT][hapmap]
rs426987	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[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	chr5:127612800-127662400	Weak transcription	HUVEC	blood vessel
3	chr5:127614600-127644800	Weak transcription	Ovary	ovary
4	chr5:127614600-127661000	Weak transcription	Fetal Kidney	kidney
5	chr5:127620200-127639600	Weak transcription	Osteobl	bone
6	chr5:127622800-127662000	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr5:127624600-127663600	Weak transcription	A549	lung
8	chr5:127624800-127644000	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr5:127624800-127648000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr5:127625000-127662200	Weak transcription	Fetal Intestine Large	intestine
11	chr5:127626000-127664400	Weak transcription	Right Ventricle	heart
12	chr5:127626200-127638000	Weak transcription	NH-A	brain
13	chr5:127626200-127640400	Weak transcription	Left Ventricle	heart
14	chr5:127626400-127639000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr5:127626400-127639000	Weak transcription	NHEK	skin
16	chr5:127626600-127664200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr5:127628600-127639600	Weak transcription	Fetal Muscle Leg	muscle
18	chr5:127634400-127656200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr5:127634600-127639200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr5:127635000-127638400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr5:127635000-127641800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr5:127635200-127639600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr5:127635200-127646600	Strong transcription	Primary monocytes fromperipheralblood	blood
24	chr5:127635400-127638000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr5:127635600-127638800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr5:127635600-127639600	Weak transcription	Fetal Stomach	stomach
27	chr5:127635600-127645600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr5:127635600-127654800	Strong transcription	Placenta	Placenta
29	chr5:127635800-127638600	Strong transcription	Fetal Heart	heart
30	chr5:127635800-127638600	Strong transcription	Fetal Lung	lung
31	chr5:127635800-127641600	Strong transcription	HMEC	breast
32	chr5:127636000-127638600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr5:127636200-127638400	Strong transcription	Muscle Satellite Cultured Cells	--
34	chr5:127636200-127648000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr5:127636200-127648800	Strong transcription	Monocytes-CD14+_RO01746	blood
36	chr5:127636400-127638200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr5:127636400-127639400	Strong transcription	HUES64 Cell Line	embryonic stem cell
38	chr5:127636600-127642800	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr5:127636600-127643800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr5:127636600-127661800	Weak transcription	Fetal Muscle Trunk	muscle
41	chr5:127636800-127640200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr5:127636800-127644800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr5:127636800-127647800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr5:127637000-127637800	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr5:127637000-127639400	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr5:127637000-127639600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr5:127637200-127638600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr5:127637400-127638000	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr5:127637400-127638000	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr5:127637400-127638200	Enhancers	HUES48 Cell Line	embryonic stem cell

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