Variant report

Variant	rs2266510
Chromosome Location	chr12:32468676-32468677
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	chr12:32459018..32461823-chr12:32467009..32469131,2	MCF-7	breast:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1151032	0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1239608	0.90[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs166373	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs171886	0.93[ASN][1000 genomes]
rs174435	0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs187788	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs261871	0.89[GIH][hapmap];0.81[MEX][hapmap]
rs261889	1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs261892	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs261893	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs261894	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs261895	0.93[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs261898	0.91[CEU][hapmap];0.94[EUR][1000 genomes]
rs261901	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs261902	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs261903	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2650127	0.97[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs2650128	1.00[ASW][hapmap];0.91[CEU][hapmap];1.00[LWK][hapmap];0.98[MKK][hapmap];0.95[TSI][hapmap];0.89[YRI][hapmap];0.97[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs2650131	0.90[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2651364	0.89[JPT][hapmap]
rs2728791	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531960	chr12:32257285-32775277	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	esv2751096	chr12:32280340-32702784	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv558171	chr12:32287259-32559693	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv832366	chr12:32328559-32511360	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32443800-32480400	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr12:32449200-32480400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr12:32449600-32490200	Weak transcription	HSMMtube	muscle
4	chr12:32450400-32480200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr12:32455200-32480400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr12:32456400-32480400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr12:32457200-32494400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr12:32459200-32480200	Weak transcription	Primary B cells from cord blood	blood
9	chr12:32459200-32480800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr12:32459400-32480600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr12:32460400-32480600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr12:32460400-32514600	Weak transcription	HMEC	breast
13	chr12:32460600-32480600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr12:32460800-32480400	Weak transcription	Osteobl	bone
15	chr12:32461000-32480800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr12:32461200-32480200	Weak transcription	HSMM	muscle
17	chr12:32461400-32480000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr12:32461400-32480200	Weak transcription	NH-A	brain
19	chr12:32461600-32472000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr12:32461800-32480400	Weak transcription	Primary T cells from cord blood	blood
21	chr12:32463000-32480200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr12:32463200-32480200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr12:32463800-32469400	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr12:32463800-32478400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr12:32465200-32475400	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr12:32465200-32475600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr12:32465400-32475200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr12:32465400-32480200	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr12:32467000-32480200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr12:32467400-32480400	Weak transcription	Ovary	ovary

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