Variant report

Variant	rs11051890
Chromosome Location	chr12:32423991-32423992
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	chr12:32419072..32421543-chr12:32422418..32424830,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10844159	0.88[JPT][hapmap]
rs10844162	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10844168	0.93[CHB][hapmap];0.93[JPT][hapmap];0.91[ASN][1000 genomes]
rs11051881	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11051885	1.00[ASW][hapmap]
rs11051898	0.93[CHB][hapmap];0.88[CHD][hapmap];0.93[JPT][hapmap];1.00[LWK][hapmap];0.91[ASN][1000 genomes]
rs12317383	0.93[EUR][1000 genomes]
rs12578420	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12579050	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12579433	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs1260708	1.00[ASW][hapmap]
rs12828628	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13328922	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1673857	1.00[ASW][hapmap]
rs34649333	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4001803	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61926959	0.91[ASN][1000 genomes]
rs67559213	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs67607066	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7295546	0.95[EUR][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:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32394000-32424200	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr12:32402000-32424000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr12:32403000-32424400	Weak transcription	HSMMtube	muscle
4	chr12:32403200-32424000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr12:32403200-32424400	Weak transcription	HSMM	muscle
6	chr12:32408200-32424000	Weak transcription	Hela-S3	cervix
7	chr12:32408200-32425600	Weak transcription	Primary T cells from cord blood	blood
8	chr12:32411200-32426200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr12:32411400-32424200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr12:32411600-32424200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr12:32412600-32424000	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr12:32412600-32426000	Weak transcription	K562	blood
13	chr12:32413400-32437600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr12:32418400-32426400	Weak transcription	Fetal Muscle Leg	muscle
15	chr12:32418600-32424000	Weak transcription	Fetal Intestine Small	intestine
16	chr12:32418600-32428400	Weak transcription	Ovary	ovary
17	chr12:32419200-32425600	Weak transcription	Thymus	Thymus
18	chr12:32419200-32426600	Weak transcription	Dnd41	blood
19	chr12:32420200-32424000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr12:32420400-32424000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr12:32421000-32426000	Weak transcription	Pancreas	Pancrea
22	chr12:32421400-32426200	Weak transcription	Aorta	Aorta
23	chr12:32422200-32427400	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr12:32422800-32424000	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr12:32423200-32424800	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr12:32423400-32424800	Enhancers	Brain Anterior Caudate	brain
27	chr12:32423400-32425000	Enhancers	Brain Cingulate Gyrus	brain
28	chr12:32423400-32427000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr12:32423600-32424000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr12:32423600-32424000	Enhancers	A549	lung
31	chr12:32423600-32424600	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr12:32423600-32424600	Enhancers	Brain Germinal Matrix	brain
33	chr12:32423600-32424800	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr12:32423600-32424800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr12:32423600-32424800	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr12:32423600-32424800	Enhancers	Brain Angular Gyrus	brain
37	chr12:32423600-32425000	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr12:32423600-32425200	Enhancers	Osteobl	bone
39	chr12:32423600-32425400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr12:32423600-32426000	Enhancers	Primary B cells from cord blood	blood
41	chr12:32423600-32427200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr12:32423600-32427200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr12:32423600-32427400	Enhancers	Primary B cells from peripheral blood	blood
44	chr12:32423800-32424000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr12:32423800-32424200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr12:32423800-32424200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr12:32423800-32424200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr12:32423800-32424200	Enhancers	Lung	lung
49	chr12:32423800-32424200	Enhancers	Spleen	Spleen
50	chr12:32423800-32424400	Enhancers	H1 Cell Line	embryonic stem cell

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