Variant report

Variant	rs34926868
Chromosome Location	chr2:173379251-173379252
allele	A/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	RAD21	chr2:173378916-173379265	H1-hESC	embryonic stem cell:	n/a	chr2:173379210-173379222
2	SPI1	chr2:173378584-173379281	HL-60	blood:	n/a	chr2:173379222-173379235 chr2:173379052-173379065 chr2:173379055-173379062
3	MYC	chr2:173378291-173379439	NB4	blood:	n/a	n/a
4	POLR2A	chr2:173378240-173379529	HL-60	blood:	n/a	n/a
5	GATA1	chr2:173378345-173379409	PBDE	blood:	n/a	n/a
6	RAD21	chr2:173378961-173379254	H1-hESC	embryonic stem cell:	n/a	chr2:173379210-173379222
7	MAX	chr2:173378290-173379433	NB4	blood:	n/a	n/a
8	RAD21	chr2:173378900-173379296	H1-hESC	embryonic stem cell:	n/a	chr2:173379210-173379222
9	REST	chr2:173378641-173379534	HL-60	blood:	n/a	n/a
10	POLR2A	chr2:173378184-173379400	HL-60	blood:	n/a	n/a
11	POLR2A	chr2:173378434-173379432	NB4	blood:	n/a	n/a
12	SPI1	chr2:173378479-173379437	HL-60	blood:	n/a	chr2:173379222-173379235 chr2:173379052-173379065 chr2:173379055-173379062
13	CTCF	chr2:173378940-173379255	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:173378965..173380472-chr2:173388218..173390798,2	K562	blood:
2	chr2:173378812..173379330-chr2:173420697..173421245,2	NB4	blood:
3	chr2:173378324..173380878-chr2:173382092..173384588,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000225205	TF binding region
ENSG00000225205	Chromatin interaction
ENSG00000152256	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10451559	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10930557	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11886058	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11892462	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11895820	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13012115	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13021042	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13027362	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13027432	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13033614	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13398305	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13412041	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17740327	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2701269	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2701270	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2737084	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28463972	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28480655	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2884226	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34277286	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34401899	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34532264	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34938988	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34970908	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35981026	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3792259	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56347526	0.90[EUR][1000 genomes]
rs59424951	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61486827	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62167823	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62167824	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6433365	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6739419	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6746243	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7580589	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7596665	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533927	chr2:173161637-173796894	Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173372600-173379600	Enhancers	Primary B cells from peripheral blood	blood
2	chr2:173375000-173380800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:173376400-173397400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:173377200-173386000	Weak transcription	Primary T cells from cord blood	blood
5	chr2:173377400-173380800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr2:173378200-173379400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr2:173378200-173379600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
8	chr2:173378200-173380000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr2:173378600-173383400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr2:173378800-173379400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr2:173378800-173379400	Flanking Active TSS	Primary B cells from cord blood	blood
12	chr2:173378800-173379600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
13	chr2:173379000-173379400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
14	chr2:173379000-173379400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
15	chr2:173379200-173379400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr2:173379200-173379600	Enhancers	Primary hematopoietic stem cells	blood
17	chr2:173379200-173379600	Enhancers	K562	blood
18	chr2:173379200-173379800	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr2:173379200-173380000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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