Variant report

Variant	rs17013657
Chromosome Location	chr4:129679066-129679067
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11945874	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];0.96[TSI][hapmap];1.00[YRI][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13118032	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13141792	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28646209	0.84[AMR][1000 genomes]
rs34486824	0.96[ASN][1000 genomes]
rs34885856	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs36111403	0.84[AMR][1000 genomes]
rs36111421	0.93[ASN][1000 genomes]
rs56122079	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56269958	0.84[AMR][1000 genomes]
rs62317516	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62317517	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs71612187	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7677537	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7685591	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869258	chr4:129191619-130138148	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
2	nsv1020801	chr4:129658178-129778086	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
3	nsv537248	chr4:129658178-129778086	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:129633000-129689600	Weak transcription	Right Atrium	heart
2	chr4:129666600-129692400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr4:129678600-129679200	Enhancers	A549	lung
4	chr4:129678600-129679800	Enhancers	Fetal Heart	heart
5	chr4:129678800-129679200	Enhancers	H9 Cell Line	embryonic stem cell
6	chr4:129678800-129679200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr4:129678800-129679200	Enhancers	Colon Smooth Muscle	Colon
8	chr4:129678800-129679200	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr4:129678800-129679200	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr4:129678800-129679200	Enhancers	HSMMtube	muscle
11	chr4:129678800-129679400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr4:129678800-129679400	Enhancers	Adipose Nuclei	Adipose
13	chr4:129678800-129679400	Enhancers	Aorta	Aorta
14	chr4:129678800-129679400	Enhancers	HSMM	muscle
15	chr4:129678800-129679800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr4:129678800-129680000	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr4:129678800-129680000	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr4:129678800-129680000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr4:129678800-129680200	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr4:129679000-129679200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
21	chr4:129679000-129679400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr4:129679000-129679400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr4:129679000-129679400	Enhancers	Ovary	ovary
24	chr4:129679000-129679400	Enhancers	NHDF-Ad	bronchial
25	chr4:129679000-129679600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr4:129679000-129679800	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr4:129679000-129679800	Enhancers	Fetal Muscle Leg	muscle
28	chr4:129679000-129679800	Enhancers	Dnd41	blood
29	chr4:129679000-129680000	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr4:129679000-129680000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr4:129679000-129680000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr4:129679000-129680000	Enhancers	Fetal Thymus	thymus
33	chr4:129679000-129680200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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