Variant report

Variant	rs13015703
Chromosome Location	chr2:64281797-64281798
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:64275467..64277323-chr2:64280220..64283208,2	MCF-7	breast:
2	chr2:64280836..64282865-chr2:64492384..64494313,2	MCF-7	breast:
3	chr2:64279851..64282234-chr2:64282895..64285369,2	K562	blood:
4	chr2:64275419..64277085-chr2:64280616..64282779,2	K562	blood:

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs10166971	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs10190776	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12463827	0.87[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12466966	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12468093	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12472816	1.00[CHB][hapmap]
rs12477310	0.89[CHB][hapmap]
rs12479211	1.00[CHB][hapmap]
rs12990604	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12993544	0.84[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap]
rs12996147	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12997303	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13005218	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13007342	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13007731	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13009774	0.90[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13014781	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13023542	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13025640	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1437455	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1545196	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17555655	0.82[ASN][1000 genomes]
rs17562312	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17701685	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17701709	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17752683	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2002443	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2287361	0.84[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap]
rs2422110	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34043307	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34200806	0.82[ASN][1000 genomes]
rs34683043	0.98[ASN][1000 genomes]
rs34700615	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35122209	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35247801	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35521527	0.82[ASN][1000 genomes]
rs35648996	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35693031	0.98[ASN][1000 genomes]
rs35810427	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35939512	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35972278	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35975566	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3934536	0.81[CEU][hapmap];0.90[CHB][hapmap]
rs4485552	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4544421	0.81[CEU][hapmap];0.90[CHB][hapmap]
rs4599090	0.81[CEU][hapmap];0.90[CHB][hapmap]
rs4671072	0.84[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap]
rs4671537	0.82[ASN][1000 genomes]
rs4671538	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4671540	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4671541	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs66476638	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs66535980	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs66595136	0.82[ASN][1000 genomes]
rs66650505	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs66660401	0.86[ASN][1000 genomes]
rs66993685	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6759803	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs67962955	0.82[ASN][1000 genomes]
rs71422402	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72808248	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72808254	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72808262	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72808287	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72808296	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7349403	1.00[CHB][hapmap]
rs874695	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs893779	0.90[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531376	chr2:64094322-64521876	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv1013132	chr2:64235175-64631084	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	esv2757803	chr2:64253005-64539556	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	esv2759055	chr2:64253005-64539556	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv428396	chr2:64253005-64539556	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:64277400-64282600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:64277400-64291200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr2:64278600-64282200	Enhancers	Primary T killer memory cells from peripheral blood	blood
4	chr2:64278600-64282600	Enhancers	Primary T cells from cord blood	blood
5	chr2:64278600-64285400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr2:64278800-64282000	Enhancers	Primary T helper cells fromperipheralblood	blood
7	chr2:64278800-64283400	Enhancers	Fetal Thymus	thymus
8	chr2:64279000-64282000	Enhancers	Primary T helper naive cells from peripheral blood	blood
9	chr2:64279000-64282600	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr2:64279000-64282800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr2:64279000-64282800	Enhancers	Thymus	Thymus
12	chr2:64279400-64282200	Enhancers	Dnd41	blood
13	chr2:64279600-64285400	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr2:64279800-64282000	Weak transcription	NHEK	skin
15	chr2:64279800-64282400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr2:64279800-64282600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr2:64279800-64282600	Weak transcription	Placenta	Placenta
18	chr2:64280000-64283200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr2:64280000-64283200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr2:64280000-64285400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr2:64280000-64290600	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr2:64280200-64281800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr2:64280200-64282000	Enhancers	HUVEC	blood vessel
24	chr2:64280600-64282000	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr2:64281000-64282200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr2:64281200-64281800	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr2:64281200-64282000	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr2:64281200-64282200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr2:64281200-64283400	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr2:64281400-64284400	Enhancers	HMEC	breast
31	chr2:64281600-64281800	Enhancers	Primary B cells from cord blood	blood
32	chr2:64281600-64282000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr2:64281600-64282400	Enhancers	GM12878-XiMat	blood
34	chr2:64281600-64290800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr2:64281600-64291200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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