Variant report

Variant	rs1993094
Chromosome Location	chr7:25845010-25845011
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:25844831..25847741-chr7:25850987..25853928,3	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs122506	0.80[ASN][1000 genomes]
rs166981	0.85[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs286697	0.80[ASN][1000 genomes]
rs286699	0.80[ASN][1000 genomes]
rs7798211	0.87[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	nsv1016813	chr7:25405859-26150509	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	108 gene(s)	inside rSNPs	diseases
2	nsv538803	chr7:25405859-26150509	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	108 gene(s)	inside rSNPs	diseases
3	nsv830928	chr7:25820147-25965014	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1993094	HOXA4	cis	cerebellum	SCAN

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:25835800-25848800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:25842800-25846400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr7:25842800-25846600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr7:25843000-25845400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr7:25843000-25845800	Enhancers	HMEC	breast
6	chr7:25843000-25846000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr7:25843200-25846200	Weak transcription	Fetal Muscle Leg	muscle
8	chr7:25843400-25845200	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr7:25843400-25847400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr7:25843800-25845800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr7:25844000-25845400	Enhancers	Osteobl	bone
12	chr7:25844200-25847400	Weak transcription	Psoas Muscle	Psoas
13	chr7:25844200-25869200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr7:25844600-25845600	Enhancers	Colon Smooth Muscle	Colon
15	chr7:25844600-25846800	Enhancers	Stomach Smooth Muscle	stomach
16	chr7:25844800-25845600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr7:25844800-25845600	Enhancers	NHLF	lung
18	chr7:25844800-25845800	Enhancers	Aorta	Aorta
19	chr7:25844800-25846800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr7:25844800-25846800	Enhancers	Fetal Stomach	stomach
21	chr7:25844800-25850600	Enhancers	Rectal Smooth Muscle	rectum
22	chr7:25845000-25846000	Enhancers	NHEK	skin
23	chr7:25845000-25846600	Weak transcription	Fetal Lung	lung

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