Variant report

Variant	rs11051893
Chromosome Location	chr12:32427588-32427589
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:32418322..32421345-chr12:32425361..32428324,3	K562	blood:

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs11051864	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11051868	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11051869	1.00[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11051871	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11051873	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11051874	1.00[CEU][hapmap];0.93[CHB][hapmap];0.92[CHD][hapmap];0.83[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11051878	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11051880	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11051882	1.00[CEU][hapmap];0.94[JPT][hapmap];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11051883	1.00[CEU][hapmap];0.82[CHD][hapmap];0.85[GIH][hapmap];0.89[JPT][hapmap];0.83[TSI][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11051889	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11051891	1.00[ASW][hapmap];0.87[CHD][hapmap];0.89[JPT][hapmap];0.81[LWK][hapmap];0.88[YRI][hapmap];0.89[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs11051894	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11051895	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11051902	1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs11051903	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs11051904	0.93[ASN][1000 genomes]
rs11051905	1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs11051906	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11051911	0.93[ASN][1000 genomes]
rs11830407	0.86[CHB][hapmap]
rs11830737	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11831258	1.00[CEU][hapmap];0.87[CHD][hapmap];0.92[GIH][hapmap];0.94[JPT][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12228244	0.93[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12228917	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12230502	0.93[ASN][1000 genomes]
rs12231775	0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs12231791	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12231813	0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12231822	0.88[ASN][1000 genomes]
rs16919510	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs16919557	1.00[CEU][hapmap];0.94[JPT][hapmap];0.92[YRI][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16919634	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs16919660	0.86[CHB][hapmap]
rs16919663	0.86[CHB][hapmap]
rs3789974	0.85[CHB][hapmap]
rs3844105	0.86[CHB][hapmap]
rs57727655	0.85[AFR][1000 genomes]
rs58654691	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs58836617	0.93[ASN][1000 genomes]
rs59262934	0.84[AFR][1000 genomes]
rs59655920	0.93[ASN][1000 genomes]
rs59934839	0.85[AFR][1000 genomes]
rs60591339	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs60781342	0.93[ASN][1000 genomes]
rs60996971	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61005955	0.93[ASN][1000 genomes]
rs61286541	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61560167	0.93[ASN][1000 genomes]
rs6488040	0.84[CHD][hapmap];0.94[JPT][hapmap];0.89[ASN][1000 genomes]
rs6488041	0.87[ASN][1000 genomes]
rs7138319	0.94[JPT][hapmap];0.87[ASN][1000 genomes]
rs7300174	0.94[JPT][hapmap];0.89[ASN][1000 genomes]
rs7309002	0.92[AFR][1000 genomes]
rs7310041	0.93[JPT][hapmap];0.89[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs74072028	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74072030	0.86[AFR][1000 genomes]
rs74072032	0.94[AFR][1000 genomes]
rs74072033	0.91[AFR][1000 genomes]
rs7958104	0.84[CHD][hapmap];0.94[JPT][hapmap];0.85[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:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32413400-32437600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:32418600-32428400	Weak transcription	Ovary	ovary
3	chr12:32423800-32427800	Enhancers	Primary hematopoietic stem cells	blood
4	chr12:32424400-32434200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr12:32424600-32438000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr12:32424800-32427800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr12:32425000-32433600	Weak transcription	HSMM	muscle
8	chr12:32425000-32437800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr12:32426600-32443400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr12:32426800-32427600	Enhancers	Primary B cells from cord blood	blood
11	chr12:32426800-32429200	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr12:32426800-32436400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr12:32426800-32436600	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr12:32426800-32437200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr12:32426800-32437400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr12:32426800-32442800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr12:32426800-32443200	Weak transcription	NH-A	brain
18	chr12:32426800-32446800	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr12:32427000-32427600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr12:32427000-32433600	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr12:32427000-32436200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr12:32427000-32436200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr12:32427000-32437800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr12:32427000-32438000	Weak transcription	Fetal Brain Female	brain
25	chr12:32427000-32443400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr12:32427000-32458600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr12:32427000-32459400	Weak transcription	Aorta	Aorta
28	chr12:32427000-32463000	Weak transcription	NHLF	lung
29	chr12:32427200-32435400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr12:32427200-32436200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr12:32427200-32463000	Weak transcription	Fetal Intestine Small	intestine
32	chr12:32427400-32437400	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr12:32427400-32445200	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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