Variant report

Variant	rs12078817
Chromosome Location	chr1:174000600-174000601
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:173999844..174002563-chr1:174002764..174006477,3	MCF-7	breast:
2	chr1:173999215..174001638-chr1:174003617..174006162,2	K562	blood:
3	chr1:173988271..173993423-chr1:173996333..174006451,14	MCF-7	breast:
4	chr1:173989990..173993460-chr1:173995713..174001470,8	MCF-7	breast:
5	chr1:173999328..174000926-chr1:174134327..174136474,2	K562	blood:

Variant related genes	Relation type
ENSG00000135870	Chromatin interaction
ENSG00000224977	Chromatin interaction

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10489893	1.00[EUR][1000 genomes]
rs10912693	1.00[EUR][1000 genomes]
rs10912699	1.00[EUR][1000 genomes]
rs10912700	1.00[EUR][1000 genomes]
rs10912701	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs10912707	1.00[EUR][1000 genomes]
rs10912708	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10912711	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs10912712	1.00[EUR][1000 genomes]
rs10912725	1.00[EUR][1000 genomes]
rs10912742	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs10912743	1.00[EUR][1000 genomes]
rs10912744	1.00[EUR][1000 genomes]
rs10912748	1.00[EUR][1000 genomes]
rs1135333	1.00[EUR][1000 genomes]
rs12057220	1.00[EUR][1000 genomes]
rs12057440	1.00[EUR][1000 genomes]
rs12058498	1.00[EUR][1000 genomes]
rs12059636	1.00[EUR][1000 genomes]
rs12060967	1.00[EUR][1000 genomes]
rs12061013	0.90[YRI][hapmap];0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12062801	1.00[EUR][1000 genomes]
rs12063273	1.00[EUR][1000 genomes]
rs12063296	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs12064818	1.00[EUR][1000 genomes]
rs12065194	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12067109	1.00[EUR][1000 genomes]
rs12067191	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12068440	1.00[EUR][1000 genomes]
rs12069446	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12070328	1.00[EUR][1000 genomes]
rs12072553	1.00[EUR][1000 genomes]
rs12073448	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12073453	1.00[EUR][1000 genomes]
rs12077462	1.00[EUR][1000 genomes]
rs12078222	1.00[EUR][1000 genomes]
rs12078471	1.00[EUR][1000 genomes]
rs12078645	1.00[EUR][1000 genomes]
rs12079240	1.00[EUR][1000 genomes]
rs12079274	1.00[EUR][1000 genomes]
rs12079650	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs12081534	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12081595	1.00[EUR][1000 genomes]
rs12084213	1.00[EUR][1000 genomes]
rs12084911	1.00[EUR][1000 genomes]
rs12090507	1.00[EUR][1000 genomes]
rs12092291	1.00[EUR][1000 genomes]
rs12096013	1.00[EUR][1000 genomes]
rs1322773	1.00[EUR][1000 genomes]
rs1322781	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs1956522	1.00[EUR][1000 genomes]
rs2227611	1.00[EUR][1000 genomes]
rs2227622	1.00[EUR][1000 genomes]
rs57586767	1.00[EUR][1000 genomes]
rs59090917	1.00[EUR][1000 genomes]
rs6673147	1.00[EUR][1000 genomes]
rs6682041	1.00[EUR][1000 genomes]
rs6684147	1.00[EUR][1000 genomes]
rs7550107	1.00[ASW][hapmap];1.00[MEX][hapmap];0.86[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs874342	1.00[EUR][1000 genomes]
rs9425414	1.00[EUR][1000 genomes]
rs9425427	1.00[EUR][1000 genomes]
rs9425768	1.00[EUR][1000 genomes]
rs997165	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	nsv916960	chr1:173907804-174080248	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv872551	chr1:173913804-174025660	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv831937	chr1:173949373-174131463	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:173998200-174002600	Weak transcription	Fetal Stomach	stomach
2	chr1:173999000-174001000	Enhancers	K562	blood
3	chr1:173999800-174000800	Enhancers	HepG2	liver
4	chr1:174000000-174008000	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr1:174000200-174002800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr1:174000200-174009600	Weak transcription	NHLF	lung
7	chr1:174000400-174000600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr1:174000400-174002000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr1:174000600-174002600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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