Variant report

Variant	rs6689816
Chromosome Location	chr1:171193541-171193542
allele	C/T
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	SPI1	chr1:171193456-171193752	GM12878	blood:	n/a	n/a
2	SPI1	chr1:171193449-171193810	GM12891	blood:	n/a	n/a
3	SPI1	chr1:171193446-171193667	GM12891	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000225243	TF binding region

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10399740	1.00[AMR][1000 genomes]
rs10912500	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10912599	1.00[AMR][1000 genomes]
rs10912623	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12061893	1.00[AMR][1000 genomes]
rs12066832	1.00[AMR][1000 genomes]
rs12071161	1.00[AMR][1000 genomes]
rs12075699	1.00[AMR][1000 genomes]
rs12077760	0.85[AFR][1000 genomes]
rs12082524	0.92[AFR][1000 genomes]
rs12085769	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56910253	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6656513	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6701657	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73028643	1.00[AMR][1000 genomes]
rs73032550	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73032556	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73032574	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73032600	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73034309	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7552423	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7883579	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001228	chr1:170885787-171452579	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
2	esv14617	chr1:171016086-171726961	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv1005902	chr1:171036690-171254916	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
4	nsv535203	chr1:171036690-171254916	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
5	esv10193	chr1:171128845-171414611	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv831882	chr1:171166224-171326083	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171190200-171193800	Enhancers	Fetal Lung	lung
2	chr1:171190400-171193800	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr1:171190600-171194000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr1:171190600-171194200	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr1:171191400-171197200	Weak transcription	Fetal Kidney	kidney
6	chr1:171191800-171195600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr1:171192600-171193800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr1:171192600-171194000	Weak transcription	Small Intestine	intestine
9	chr1:171192600-171195600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr1:171192800-171195600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr1:171193000-171194000	Enhancers	Muscle Satellite Cultured Cells	--
12	chr1:171193000-171194200	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr1:171193000-171194200	Enhancers	HMEC	breast
14	chr1:171193200-171193800	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr1:171193400-171193800	Enhancers	H9 Cell Line	embryonic stem cell
16	chr1:171193400-171193800	Enhancers	Stomach Mucosa	stomach
17	chr1:171193400-171194200	Enhancers	ES-WA7 Cell Line	embryonic stem cell

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