Variant report

Variant	rs2054438
Chromosome Location	chr12:29901912-29901913
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	chr12:29893612..29896534-chr12:29900997..29903982,2	K562	blood:
2	chr12:29901716..29903579-chr12:29907856..29909863,2	K562	blood:

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11050417	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11050418	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11050420	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2126891	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60465125	0.93[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529328	chr12:29692414-30246209	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29880000-29921200	Weak transcription	Fetal Kidney	kidney
2	chr12:29881600-29915800	Weak transcription	Brain Substantia Nigra	brain
3	chr12:29887400-29902000	Weak transcription	Brain Anterior Caudate	brain
4	chr12:29887400-29915600	Weak transcription	Brain Angular Gyrus	brain
5	chr12:29888800-29915600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr12:29889200-29903200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr12:29890200-29904200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr12:29890200-29915600	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr12:29890600-29913000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:29892400-29903000	Weak transcription	Aorta	Aorta
11	chr12:29892400-29903000	Weak transcription	Spleen	Spleen
12	chr12:29892400-29904400	Weak transcription	Esophagus	oesophagus
13	chr12:29893200-29903000	Weak transcription	Fetal Muscle Trunk	muscle
14	chr12:29893200-29903000	Weak transcription	Fetal Stomach	stomach
15	chr12:29894600-29902800	Weak transcription	Left Ventricle	heart
16	chr12:29894600-29904200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr12:29894600-29907200	Weak transcription	Colon Smooth Muscle	Colon
18	chr12:29894800-29904400	Weak transcription	Ovary	ovary
19	chr12:29895000-29903200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr12:29895000-29910000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr12:29896200-29904400	Weak transcription	Lung	lung
22	chr12:29896800-29903000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr12:29897000-29902000	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr12:29897000-29902800	Weak transcription	Right Atrium	heart
25	chr12:29897000-29903400	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr12:29897000-29903600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr12:29897000-29903600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr12:29897000-29903600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr12:29897200-29902200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr12:29897200-29902800	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr12:29897200-29903200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr12:29897200-29903200	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr12:29897200-29903200	Weak transcription	Stomach Smooth Muscle	stomach
34	chr12:29897200-29903600	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr12:29897200-29903800	Weak transcription	Right Ventricle	heart
36	chr12:29897200-29904200	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr12:29897200-29904400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr12:29897200-29905800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr12:29897200-29916000	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr12:29897400-29903400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr12:29897600-29902200	Weak transcription	HSMMtube	muscle
42	chr12:29897600-29903200	Weak transcription	NHEK	skin
43	chr12:29897800-29905600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr12:29898000-29910000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr12:29898200-29902000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr12:29898200-29903000	Weak transcription	NHLF	lung
47	chr12:29898200-29903200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr12:29898200-29904200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr12:29898200-29904200	Weak transcription	NHDF-Ad	bronchial
50	chr12:29898200-29915800	Weak transcription	Liver	Liver

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