Variant report

Variant	rs331093
Chromosome Location	chr5:127714019-127714020
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr5:127713908-127714147	GM12878	blood:	n/a	chr5:127714031-127714042
2	FOS	chr5:127713984-127714116	MCF10A-Er-Src	breast:	n/a	n/a
3	FOS	chr5:127713992-127714165	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
FBN2	TF binding region

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1428632	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs255630	0.85[CHB][hapmap]
rs26025	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs32218	0.87[CHB][hapmap];0.86[JPT][hapmap]
rs331074	0.96[CEU][hapmap];0.93[CHB][hapmap];0.93[JPT][hapmap];0.97[YRI][hapmap];0.94[AFR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs331075	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs331076	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs331077	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs331089	0.93[CHB][hapmap];0.92[JPT][hapmap];0.93[ASN][1000 genomes]
rs331090	0.93[CHB][hapmap];0.92[JPT][hapmap];0.93[ASN][1000 genomes]
rs331092	0.94[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs331094	0.90[YRI][hapmap]
rs331098	0.93[CHB][hapmap];0.91[ASN][1000 genomes]
rs399731	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs40487	0.86[CHB][hapmap]
rs432792	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs552850	0.93[CHB][hapmap];1.00[JPT][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

No data

Chromatin state (count:48 , 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	chr5:127681600-127714400	Weak transcription	HUVEC	blood vessel
5	chr5:127685400-127725000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr5:127686000-127738400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr5:127686000-127742000	Weak transcription	A549	lung
8	chr5:127690200-127724800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr5:127693400-127714600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr5:127695200-127737800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr5:127696000-127716000	Strong transcription	Placenta	Placenta
12	chr5:127696400-127715000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr5:127696800-127738200	Weak transcription	Fetal Lung	lung
14	chr5:127700600-127719600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr5:127701800-127716000	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr5:127702600-127714400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr5:127704800-127741800	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr5:127705000-127715400	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr5:127705000-127715400	Weak transcription	Fetal Stomach	stomach
20	chr5:127705000-127724800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr5:127705000-127730200	Weak transcription	Fetal Intestine Large	intestine
22	chr5:127705200-127718000	Weak transcription	Ovary	ovary
23	chr5:127705200-127724800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr5:127705600-127722000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr5:127705800-127731200	Weak transcription	Left Ventricle	heart
26	chr5:127707600-127714200	Strong transcription	HUES64 Cell Line	embryonic stem cell
27	chr5:127710600-127716000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr5:127710600-127724200	Weak transcription	Fetal Muscle Leg	muscle
29	chr5:127711200-127724800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr5:127711200-127724800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr5:127712600-127715400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr5:127712800-127723800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr5:127712800-127725000	Weak transcription	Fetal Muscle Trunk	muscle
34	chr5:127713200-127716200	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr5:127713200-127718000	Weak transcription	Fetal Heart	heart
36	chr5:127713200-127724800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr5:127713200-127725000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr5:127713200-127727600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr5:127713400-127715000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr5:127713600-127714800	Enhancers	NHEK	skin
41	chr5:127713600-127724800	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr5:127713800-127714200	Enhancers	Primary T cells from cord blood	blood
43	chr5:127713800-127714200	Enhancers	Muscle Satellite Cultured Cells	--
44	chr5:127713800-127714600	Enhancers	HMEC	breast
45	chr5:127713800-127714600	Enhancers	NH-A	brain
46	chr5:127713800-127714600	Enhancers	Osteobl	bone
47	chr5:127713800-127715400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr5:127714000-127714800	Enhancers	Fetal Kidney	kidney

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