Variant report

Variant	rs1574463
Chromosome Location	chr2:10437333-10437334
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	JUND	chr2:10437148-10438905	SK-N-SH	brain:	n/a	chr2:10438159-10438170 chr2:10438163-10438171

No.	Distal block	Cell Line	Cell type
1	chr2:10437138..10439470-chr2:10586145..10589513,3	K562	blood:
2	chr2:10409808..10412548-chr2:10436886..10439745,2	K562	blood:
3	chr2:10434745..10440361-chr2:10440769..10446494,13	MCF-7	breast:
4	chr2:10436760..10438833-chr2:10575893..10578796,2	K562	blood:
5	chr2:10436642..10438745-chr2:10547775..10550649,2	K562	blood:

Variant related genes	Relation type
ENSG00000206898	TF binding region
ENSG00000206633	Chromatin interaction
ENSG00000115756	Chromatin interaction
ENSG00000115758	Chromatin interaction
ENSG00000257135	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10167820	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10174791	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6725658	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6734800	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6749349	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	nsv530829	chr2:10357105-10655131	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
2	nsv873639	chr2:10372061-10475308	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	esv19004	chr2:10433505-10439183	Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10426200-10438000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:10426800-10437600	Weak transcription	Spleen	Spleen
3	chr2:10434000-10437400	Weak transcription	HMEC	breast
4	chr2:10435200-10438200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr2:10435200-10438800	Enhancers	Placenta	Placenta
6	chr2:10435400-10438600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr2:10435600-10437800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr2:10435800-10437600	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr2:10435800-10437800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr2:10435800-10441000	Weak transcription	Stomach Mucosa	stomach
11	chr2:10436000-10442000	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr2:10436600-10437600	Weak transcription	NHEK	skin
13	chr2:10436600-10437800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr2:10436600-10438600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr2:10436600-10442200	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr2:10436800-10437800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr2:10436800-10437800	Enhancers	Monocytes-CD14+_RO01746	blood
18	chr2:10437000-10437400	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr2:10437000-10438800	Enhancers	Fetal Thymus	thymus
20	chr2:10437000-10439000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr2:10437200-10438200	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr2:10437200-10438800	Enhancers	K562	blood

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