Variant report

Variant	rs1007223
Chromosome Location	chr4:121953970-121953971
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:121946281..121949061-chr4:121952763..121954940,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NDNF-2	chr4:121952576-121954272	NONHSAT098132

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs1135508	0.91[ASN][1000 genomes]
rs17353430	0.91[ASN][1000 genomes]
rs17353535	0.91[ASN][1000 genomes]
rs17353576	0.91[ASN][1000 genomes]
rs17432229	0.89[ASN][1000 genomes]
rs1807071	0.89[ASN][1000 genomes]
rs34766411	0.91[ASN][1000 genomes]
rs3733559	0.91[ASN][1000 genomes]
rs3775914	0.91[ASN][1000 genomes]
rs3775915	0.91[ASN][1000 genomes]
rs4129577	0.91[ASN][1000 genomes]
rs4299608	0.89[ASN][1000 genomes]
rs4308379	0.89[ASN][1000 genomes]
rs4328939	0.89[ASN][1000 genomes]
rs4330368	0.89[ASN][1000 genomes]
rs4337753	0.89[ASN][1000 genomes]
rs4453953	0.89[ASN][1000 genomes]
rs4455436	0.89[ASN][1000 genomes]
rs4512019	0.89[ASN][1000 genomes]
rs4524412	0.89[ASN][1000 genomes]
rs4527506	0.89[ASN][1000 genomes]
rs4532258	0.89[ASN][1000 genomes]
rs4560434	0.89[ASN][1000 genomes]
rs4563519	0.88[ASN][1000 genomes]
rs4600937	0.91[ASN][1000 genomes]
rs4604073	0.91[ASN][1000 genomes]
rs4833701	0.85[ASN][1000 genomes]
rs4833703	0.89[ASN][1000 genomes]
rs4833704	0.86[ASN][1000 genomes]
rs55975621	0.89[ASN][1000 genomes]
rs56017855	0.91[ASN][1000 genomes]
rs72682302	0.89[ASN][1000 genomes]
rs72684003	0.89[ASN][1000 genomes]
rs72684004	0.89[ASN][1000 genomes]
rs72684005	0.89[ASN][1000 genomes]
rs72684008	0.89[ASN][1000 genomes]
rs72684009	0.90[ASN][1000 genomes]
rs72684010	0.90[ASN][1000 genomes]
rs72684012	0.91[ASN][1000 genomes]
rs72684013	0.91[ASN][1000 genomes]
rs72684015	0.91[ASN][1000 genomes]
rs72684016	0.91[ASN][1000 genomes]
rs72684017	0.91[ASN][1000 genomes]
rs72684019	0.91[ASN][1000 genomes]
rs72684020	0.91[ASN][1000 genomes]
rs72684025	0.91[ASN][1000 genomes]
rs72684027	0.91[ASN][1000 genomes]
rs72684031	0.91[ASN][1000 genomes]
rs72684033	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998094	chr4:121504565-122374203	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv1009395	chr4:121841442-122557363	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv537235	chr4:121841442-122557363	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	esv3386870	chr4:121867625-122208448	Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv879859	chr4:121892490-122438312	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:121938200-121957600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr4:121948600-121955600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr4:121951800-121954600	Weak transcription	Liver	Liver
4	chr4:121951800-121954800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr4:121952000-121957200	Weak transcription	Fetal Intestine Large	intestine
6	chr4:121952200-121955400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr4:121952200-121955600	Weak transcription	Ovary	ovary
8	chr4:121952200-121979600	Weak transcription	Psoas Muscle	Psoas
9	chr4:121952400-121954200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr4:121952400-121961400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr4:121953400-121954200	Enhancers	Fetal Lung	lung
12	chr4:121953600-121968600	Weak transcription	NHDF-Ad	bronchial
13	chr4:121953800-121954000	Enhancers	Left Ventricle	heart
14	chr4:121953800-121954000	Enhancers	Lung	lung
15	chr4:121953800-121957200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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