Variant report

Variant	rs13010625
Chromosome Location	chr2:127730766-127730767
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	chr17:42421751..42423895-chr2:127728596..127731576,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000030582	Chromatin interaction

Extended variants
information (count: 94 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:88)

rs_ID	r²[population]
rs10194052	1.00[ASN][1000 genomes]
rs10803618	0.90[EUR][1000 genomes]
rs11884053	1.00[ASN][1000 genomes]
rs11885353	1.00[ASN][1000 genomes]
rs11888349	1.00[ASN][1000 genomes]
rs11889584	1.00[ASN][1000 genomes]
rs11889712	1.00[ASN][1000 genomes]
rs11896939	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11898260	1.00[ASN][1000 genomes]
rs12053575	0.90[EUR][1000 genomes]
rs12993596	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12997058	1.00[ASN][1000 genomes]
rs12999411	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12999613	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12999757	1.00[ASN][1000 genomes]
rs13010652	1.00[ASN][1000 genomes]
rs13012357	1.00[ASN][1000 genomes]
rs13013476	1.00[ASN][1000 genomes]
rs13016474	0.94[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs13024324	1.00[ASN][1000 genomes]
rs13025747	1.00[ASN][1000 genomes]
rs13026367	1.00[ASN][1000 genomes]
rs13026415	1.00[ASN][1000 genomes]
rs13026430	1.00[ASN][1000 genomes]
rs13028314	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13031759	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13032401	1.00[ASN][1000 genomes]
rs13032403	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1510528	1.00[ASN][1000 genomes]
rs17014691	1.00[ASN][1000 genomes]
rs17014698	1.00[ASN][1000 genomes]
rs1848902	1.00[ASN][1000 genomes]
rs1848903	0.94[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1848904	1.00[ASN][1000 genomes]
rs2276581	1.00[YRI][hapmap]
rs34018781	1.00[ASN][1000 genomes]
rs34109617	1.00[ASN][1000 genomes]
rs34167893	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34234549	1.00[ASN][1000 genomes]
rs34340556	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34358238	1.00[ASN][1000 genomes]
rs34643552	1.00[ASN][1000 genomes]
rs34840409	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34840927	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34859030	1.00[ASN][1000 genomes]
rs34986734	1.00[ASN][1000 genomes]
rs35002098	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35143983	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35311329	1.00[ASN][1000 genomes]
rs35386494	1.00[ASN][1000 genomes]
rs35520257	0.94[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs35523788	1.00[ASN][1000 genomes]
rs35580772	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35620035	1.00[ASN][1000 genomes]
rs35686520	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36076731	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4662695	0.87[EUR][1000 genomes]
rs4662696	0.87[EUR][1000 genomes]
rs4662697	0.83[EUR][1000 genomes]
rs4663075	0.87[EUR][1000 genomes]
rs4663076	0.87[EUR][1000 genomes]
rs4663077	0.87[EUR][1000 genomes]
rs4663079	0.87[EUR][1000 genomes]
rs4663080	0.87[EUR][1000 genomes]
rs4663081	0.87[EUR][1000 genomes]
rs4663082	0.90[EUR][1000 genomes]
rs4663083	0.90[EUR][1000 genomes]
rs4663085	1.00[ASN][1000 genomes]
rs55962144	0.92[EUR][1000 genomes]
rs56086835	0.86[EUR][1000 genomes]
rs59366032	0.94[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs60133364	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60292917	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6431209	0.90[EUR][1000 genomes]
rs6431210	0.90[EUR][1000 genomes]
rs6431211	0.90[EUR][1000 genomes]
rs6431212	0.90[EUR][1000 genomes]
rs66792832	1.00[ASN][1000 genomes]
rs67141267	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6749935	0.87[EUR][1000 genomes]
rs67640318	1.00[ASN][1000 genomes]
rs7419804	0.90[EUR][1000 genomes]
rs7423317	0.90[EUR][1000 genomes]
rs7556956	0.90[EUR][1000 genomes]
rs7557069	0.90[EUR][1000 genomes]
rs7586551	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7600840	1.00[ASN][1000 genomes]
rs9967839	0.90[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	nsv1002265	chr2:127029745-127733458	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv535919	chr2:127029745-127733458	Strong transcription Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv999422	chr2:127464647-127956543	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv1004930	chr2:127477369-127938234	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv834365	chr2:127616996-127793863	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv834366	chr2:127633714-127784692	Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:127729800-127731000	Enhancers	Fetal Muscle Leg	muscle
2	chr2:127730000-127733000	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr2:127730000-127733200	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr2:127730000-127733600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr2:127730200-127731600	Weak transcription	Brain Substantia Nigra	brain
6	chr2:127730200-127732000	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr2:127730200-127733000	Weak transcription	Fetal Lung	lung
8	chr2:127730200-127733800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr2:127730200-127735600	Weak transcription	Brain Hippocampus Middle	brain
10	chr2:127730400-127733600	Enhancers	HepG2	liver
11	chr2:127730600-127731400	Weak transcription	Liver	Liver

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