Variant report

Variant	rs34484367
Chromosome Location	chr17:38806187-38806188
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	POLR2A	chr17:38806147-38806320	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:38785253..38787976-chr17:38805793..38807647,2	K562	blood:
2	chr17:38804043..38806007-chr17:38806037..38808129,3	MCF-7	breast:
3	chr17:38804782..38807558-chr17:38974104..38976805,2	K562	blood:

Variant related genes	Relation type
SMARCE1	TF binding region
ENSG00000167920	Chromatin interaction
ENSG00000073584	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12949187	0.83[AFR][1000 genomes]
rs12950545	0.93[AFR][1000 genomes]
rs34261757	0.87[AFR][1000 genomes]
rs34868734	0.93[AFR][1000 genomes]
rs36092014	0.94[AFR][1000 genomes]
rs71371440	0.87[AFR][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	nsv574994	chr17:38719799-38824636	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	esv2758454	chr17:38748300-38850104	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	esv2758689	chr17:38748300-38850104	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv431626	chr17:38770965-38999722	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv908225	chr17:38776406-38868480	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38805200-38815800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr17:38805400-38806200	Enhancers	Fetal Muscle Leg	muscle
3	chr17:38805400-38806200	Enhancers	Fetal Stomach	stomach
4	chr17:38805400-38806200	Enhancers	Left Ventricle	heart
5	chr17:38805400-38806200	Enhancers	Placenta Amnion	Placenta Amnion
6	chr17:38805400-38806200	Enhancers	Thymus	Thymus
7	chr17:38805400-38806400	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr17:38805400-38808800	Weak transcription	NHLF	lung
9	chr17:38805400-38809400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr17:38805400-38812000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr17:38805400-38816000	Weak transcription	Primary T cells from cord blood	blood
12	chr17:38805400-38821200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr17:38805600-38806200	Enhancers	Brain Germinal Matrix	brain
14	chr17:38805600-38806200	Enhancers	Fetal Brain Male	brain
15	chr17:38805600-38806200	Enhancers	K562	blood
16	chr17:38805600-38806400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr17:38805600-38806400	Enhancers	Fetal Intestine Small	intestine
18	chr17:38805600-38808200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr17:38805600-38809200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr17:38805600-38809400	Weak transcription	NHEK	skin
21	chr17:38805600-38815800	Weak transcription	Liver	Liver
22	chr17:38805600-38819400	Weak transcription	Spleen	Spleen
23	chr17:38805600-38820600	Weak transcription	Brain Anterior Caudate	brain
24	chr17:38805600-38821000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr17:38805800-38806200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr17:38805800-38806200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr17:38806000-38806200	Enhancers	Aorta	Aorta
28	chr17:38806000-38806200	Enhancers	Fetal Muscle Trunk	muscle
29	chr17:38806000-38806200	Enhancers	Psoas Muscle	Psoas

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