Variant report

Variant	rs10494679
Chromosome Location	chr1:193427373-193427374
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:193426586..193427494-chr1:193448215..193449023,2	MCF-7	breast:
2	chr1:193426910..193427495-chr1:193888652..193889585,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10494680	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12027971	0.97[EUR][1000 genomes]
rs12035086	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12037892	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12043289	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12043960	0.81[AMR][1000 genomes]
rs12044333	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1324329	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16835376	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1886294	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1886295	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2147304	0.98[EUR][1000 genomes]
rs4474226	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4657751	0.98[EUR][1000 genomes]
rs6656737	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7417352	0.98[EUR][1000 genomes]
rs7516432	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7524847	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7528241	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7538630	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997891	chr1:193271839-193566441	Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1004003	chr1:193322299-193477254	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv535253	chr1:193322299-193477254	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv832159	chr1:193342434-193525072	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
5	nsv998663	chr1:193343230-193574004	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
6	nsv535254	chr1:193343230-193574004	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	nsv548661	chr1:193391298-193470234	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
8	nsv832170	chr1:193426455-193596182	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:193425600-193428800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr1:193426000-193427400	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr1:193426000-193431000	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr1:193426200-193428000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr1:193426200-193428400	Active TSS	Primary T cells fromperipheralblood	blood
6	chr1:193426200-193430000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr1:193426400-193427800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
8	chr1:193426600-193427400	Active TSS	Primary T helper cells PMA-I stimulated	--
9	chr1:193426800-193427400	Flanking Active TSS	Fetal Lung	lung
10	chr1:193426800-193428000	Active TSS	Primary T regulatory cells fromperipheralblood	blood
11	chr1:193427200-193427400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
12	chr1:193427200-193430000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr1:193427200-193430600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:193427200-193430800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:193427200-193431000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr1:193427200-193431800	Weak transcription	Brain Germinal Matrix	brain

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