Variant report

Variant	rs331098
Chromosome Location	chr5:127705251-127705252
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1428632	0.88[CHB][hapmap]
rs26024	0.91[YRI][hapmap]
rs26025	0.88[CHB][hapmap]
rs27456	0.85[CHB][hapmap]
rs32217	0.81[CEU][hapmap]
rs32218	0.81[CHB][hapmap]
rs32238	0.81[CEU][hapmap]
rs331074	0.86[CHB][hapmap];0.87[ASN][1000 genomes]
rs331075	0.93[CHB][hapmap];0.92[ASN][1000 genomes]
rs331076	0.93[CHB][hapmap];0.92[ASN][1000 genomes]
rs331077	0.87[ASN][1000 genomes]
rs331089	0.86[CHB][hapmap];0.88[ASN][1000 genomes]
rs331090	0.86[CHB][hapmap];0.88[ASN][1000 genomes]
rs331092	0.88[ASN][1000 genomes]
rs331093	0.93[CHB][hapmap];0.91[ASN][1000 genomes]
rs331096	0.91[YRI][hapmap]
rs331099	0.82[AMR][1000 genomes]
rs399731	0.88[CHB][hapmap]
rs42281	0.89[YRI][hapmap]
rs432792	0.87[CHB][hapmap]
rs552850	0.87[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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127672000-127746000	Weak transcription	NHDF-Ad	bronchial
2	chr5:127673800-127706400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr5:127675600-127742200	Weak transcription	Fetal Intestine Small	intestine
4	chr5:127677800-127711400	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr5:127679200-127731200	Weak transcription	Right Ventricle	heart
6	chr5:127681400-127706600	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr5:127681600-127714400	Weak transcription	HUVEC	blood vessel
8	chr5:127685400-127725000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr5:127685800-127712400	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr5:127686000-127738400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr5:127686000-127742000	Weak transcription	A549	lung
12	chr5:127690200-127724800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr5:127693400-127714600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr5:127695200-127737800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr5:127695800-127714000	Weak transcription	Fetal Kidney	kidney
16	chr5:127696000-127716000	Strong transcription	Placenta	Placenta
17	chr5:127696400-127715000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr5:127696800-127738200	Weak transcription	Fetal Lung	lung
19	chr5:127697000-127712200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr5:127700600-127719600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr5:127701800-127716000	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr5:127702000-127706400	Strong transcription	HMEC	breast
23	chr5:127702200-127706400	Strong transcription	HUES64 Cell Line	embryonic stem cell
24	chr5:127702400-127705400	Strong transcription	Primary monocytes fromperipheralblood	blood
25	chr5:127702400-127705800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr5:127702400-127706600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr5:127702400-127706800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr5:127702600-127706600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr5:127702600-127714400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr5:127703000-127710600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr5:127703600-127705600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr5:127703600-127706600	Strong transcription	Muscle Satellite Cultured Cells	--
33	chr5:127703600-127707200	Strong transcription	Fetal Heart	heart
34	chr5:127703800-127705800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr5:127703800-127705800	Strong transcription	NHEK	skin
36	chr5:127703800-127712800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr5:127704200-127705800	Strong transcription	Fetal Muscle Leg	muscle
38	chr5:127704200-127706400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr5:127704400-127705800	Strong transcription	Left Ventricle	heart
40	chr5:127704800-127741800	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr5:127705000-127707600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr5:127705000-127712200	Weak transcription	Fetal Muscle Trunk	muscle
43	chr5:127705000-127715400	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr5:127705000-127715400	Weak transcription	Fetal Stomach	stomach
45	chr5:127705000-127724800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr5:127705000-127730200	Weak transcription	Fetal Intestine Large	intestine
47	chr5:127705200-127709400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr5:127705200-127713800	Weak transcription	NH-A	brain
49	chr5:127705200-127718000	Weak transcription	Ovary	ovary
50	chr5:127705200-127724800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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