Variant report

Variant	rs12743080
Chromosome Location	chr1:217157713-217157714
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	chr1:217153129..217154880-chr1:217155625..217158488,2	MCF-7	breast:

Extended variants
information (count: 42 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11572443	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11572453	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11572454	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11587690	0.85[EUR][1000 genomes]
rs12728033	0.81[CHB][hapmap];0.86[JPT][hapmap]
rs12738035	0.81[AFR][1000 genomes]
rs12741622	0.81[CHB][hapmap];0.86[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1339213	0.92[JPT][hapmap];0.94[ASN][1000 genomes]
rs1416538	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17041530	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17041540	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17044587	0.86[JPT][hapmap];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17044788	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17044806	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17044824	0.86[JPT][hapmap];0.83[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs17686743	0.81[AFR][1000 genomes]
rs17686866	0.81[AFR][1000 genomes]
rs34056739	0.81[AFR][1000 genomes]
rs34096624	0.81[AFR][1000 genomes]
rs34250841	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34710011	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35271799	0.83[EUR][1000 genomes]
rs4846797	0.92[JPT][hapmap];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4846798	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4846799	0.85[EUR][1000 genomes]
rs4846800	0.81[AFR][1000 genomes]
rs4846801	0.81[AFR][1000 genomes]
rs6690530	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs71643432	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs71643434	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs71643435	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71643436	1.00[AFR][1000 genomes]
rs867408	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs867409	0.86[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs867410	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs920170	0.84[JPT][hapmap];0.85[EUR][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	nsv468149	chr1:217134966-217203091	Enhancers Weak transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
2	nsv549204	chr1:217134966-217203091	Weak transcription Enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	nsv428610	chr1:217143317-217307243	Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1008670	chr1:217155114-217206765	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
5	nsv1012243	chr1:217157000-217206765	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
6	nsv1006155	chr1:217157000-217215465	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:217156600-217158200	Enhancers	Psoas Muscle	Psoas
2	chr1:217156800-217157800	Enhancers	Fetal Heart	heart
3	chr1:217157200-217157800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr1:217157200-217158000	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr1:217157200-217158200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr1:217157200-217158200	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr1:217157200-217158200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr1:217157400-217158000	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr1:217157400-217194400	Weak transcription	Fetal Muscle Leg	muscle
10	chr1:217157600-217158000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:217157600-217158000	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr1:217157600-217158000	Enhancers	Brain Anterior Caudate	brain
13	chr1:217157600-217158200	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr1:217157600-217158200	Enhancers	Brain Substantia Nigra	brain
15	chr1:217157600-217158800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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