Variant report

Variant	rs11051891
Chromosome Location	chr12:32424230-32424231
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	chr12:32419072..32421543-chr12:32422418..32424830,2	K562	blood:

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs11051869	0.84[JPT][hapmap]
rs11051874	0.83[JPT][hapmap]
rs11051878	0.88[ASN][1000 genomes]
rs11051880	0.80[CHB][hapmap];0.89[JPT][hapmap];0.88[ASN][1000 genomes]
rs11051882	0.94[CHB][hapmap];0.94[JPT][hapmap];0.98[ASN][1000 genomes]
rs11051883	0.94[CHB][hapmap];0.94[CHD][hapmap];0.89[JPT][hapmap];0.82[MEX][hapmap];0.99[ASN][1000 genomes]
rs11051889	0.89[JPT][hapmap];0.89[ASN][1000 genomes]
rs11051893	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	0.89[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs11051895	0.83[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs11051902	0.89[CEU][hapmap];0.92[GIH][hapmap];0.89[JPT][hapmap];0.87[TSI][hapmap];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11051903	0.88[CEU][hapmap];0.89[JPT][hapmap];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11051904	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11051905	0.89[CEU][hapmap];0.92[GIH][hapmap];0.89[JPT][hapmap];0.87[TSI][hapmap];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11051906	0.89[JPT][hapmap];0.82[ASN][1000 genomes]
rs11051911	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11830737	0.83[ASN][1000 genomes]
rs11831258	1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[JPT][hapmap];0.97[ASN][1000 genomes]
rs12228244	0.89[JPT][hapmap];0.88[ASN][1000 genomes]
rs12228917	0.89[JPT][hapmap]
rs12230502	0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12231775	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12231791	0.88[ASN][1000 genomes]
rs12231813	0.98[ASN][1000 genomes]
rs12231822	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16919557	1.00[CHB][hapmap];0.94[JPT][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs16919634	0.89[CEU][hapmap];0.89[JPT][hapmap];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs58836617	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs59655920	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs60781342	0.84[ASN][1000 genomes]
rs61005955	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61286541	0.97[ASN][1000 genomes]
rs61560167	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6488040	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6488041	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7138319	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7300174	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7309002	0.82[AFR][1000 genomes]
rs7310041	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.88[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73310734	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73310736	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs74072028	0.88[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs74072032	0.84[AFR][1000 genomes]
rs74072033	0.81[AFR][1000 genomes]
rs7958104	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[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:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32403000-32424400	Weak transcription	HSMMtube	muscle
2	chr12:32403200-32424400	Weak transcription	HSMM	muscle
3	chr12:32408200-32425600	Weak transcription	Primary T cells from cord blood	blood
4	chr12:32411200-32426200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr12:32412600-32426000	Weak transcription	K562	blood
6	chr12:32413400-32437600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr12:32418400-32426400	Weak transcription	Fetal Muscle Leg	muscle
8	chr12:32418600-32428400	Weak transcription	Ovary	ovary
9	chr12:32419200-32425600	Weak transcription	Thymus	Thymus
10	chr12:32419200-32426600	Weak transcription	Dnd41	blood
11	chr12:32421000-32426000	Weak transcription	Pancreas	Pancrea
12	chr12:32421400-32426200	Weak transcription	Aorta	Aorta
13	chr12:32422200-32427400	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr12:32423200-32424800	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr12:32423400-32424800	Enhancers	Brain Anterior Caudate	brain
16	chr12:32423400-32425000	Enhancers	Brain Cingulate Gyrus	brain
17	chr12:32423400-32427000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr12:32423600-32424600	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr12:32423600-32424600	Enhancers	Brain Germinal Matrix	brain
20	chr12:32423600-32424800	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr12:32423600-32424800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr12:32423600-32424800	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr12:32423600-32424800	Enhancers	Brain Angular Gyrus	brain
24	chr12:32423600-32425000	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr12:32423600-32425200	Enhancers	Osteobl	bone
26	chr12:32423600-32425400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr12:32423600-32426000	Enhancers	Primary B cells from cord blood	blood
28	chr12:32423600-32427200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr12:32423600-32427200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr12:32423600-32427400	Enhancers	Primary B cells from peripheral blood	blood
31	chr12:32423800-32424400	Enhancers	H1 Cell Line	embryonic stem cell
32	chr12:32423800-32424400	Enhancers	H9 Cell Line	embryonic stem cell
33	chr12:32423800-32424400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr12:32423800-32424400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr12:32423800-32424400	Enhancers	Fetal Muscle Trunk	muscle
36	chr12:32423800-32424400	Enhancers	Placenta	Placenta
37	chr12:32423800-32424400	Enhancers	Fetal Thymus	thymus
38	chr12:32423800-32424400	Enhancers	Left Ventricle	heart
39	chr12:32423800-32424400	Enhancers	Right Atrium	heart
40	chr12:32423800-32424400	Enhancers	GM12878-XiMat	blood
41	chr12:32423800-32424400	Enhancers	HUVEC	blood vessel
42	chr12:32423800-32424400	Enhancers	NH-A	brain
43	chr12:32423800-32424600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr12:32423800-32424600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr12:32423800-32424600	Enhancers	Sigmoid Colon	Sigmoid Colon
46	chr12:32423800-32424600	Enhancers	NHDF-Ad	bronchial
47	chr12:32423800-32424800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr12:32423800-32424800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr12:32423800-32424800	Enhancers	Primary hematopoietic stem cells short term culture	blood
50	chr12:32423800-32424800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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