Variant report

Variant	rs1388698
Chromosome Location	chr12:22036979-22036980
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	chr12:22035471..22036993-chr12:22040454..22042900,2	K562	blood:
2	chr12:22034102..22036993-chr12:22040454..22043984,3	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11046212	0.86[CHB][hapmap]
rs1283808	0.80[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1914361	1.00[ASW][hapmap];1.00[CEU][hapmap];0.93[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2032775	1.00[ASW][hapmap];1.00[CEU][hapmap];0.93[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.97[MKK][hapmap];0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2292771	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4148661	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4148666	0.93[CHB][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4762717	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs704191	0.93[CHB][hapmap]
rs704192	0.93[CHB][hapmap]
rs7314764	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7978092	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[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	nsv557741	chr12:21578559-22169854	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1051073	chr12:21910875-22271209	Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv470275	chr12:21938544-22126314	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv898899	chr12:22024093-22044210	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:22024800-22037000	Weak transcription	Left Ventricle	heart
2	chr12:22024800-22044000	Weak transcription	Fetal Muscle Trunk	muscle
3	chr12:22024800-22044800	Weak transcription	Aorta	Aorta
4	chr12:22027000-22041000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr12:22027600-22046200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:22029400-22040800	Weak transcription	Fetal Lung	lung
7	chr12:22030600-22044800	Weak transcription	Right Ventricle	heart
8	chr12:22031600-22039400	Enhancers	Liver	Liver
9	chr12:22033600-22038400	Enhancers	Fetal Heart	heart
10	chr12:22033800-22037800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr12:22035200-22044400	Weak transcription	Adipose Nuclei	Adipose
12	chr12:22035200-22044800	Weak transcription	Psoas Muscle	Psoas
13	chr12:22035200-22058600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr12:22035200-22092200	Weak transcription	Fetal Muscle Leg	muscle
15	chr12:22035400-22040800	Weak transcription	Stomach Smooth Muscle	stomach
16	chr12:22035400-22041200	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr12:22035800-22037200	Weak transcription	Fetal Stomach	stomach
18	chr12:22036200-22039600	Weak transcription	Colon Smooth Muscle	Colon
19	chr12:22036200-22041000	Weak transcription	Rectal Smooth Muscle	rectum
20	chr12:22036200-22041200	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr12:22036400-22038600	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr12:22036400-22044800	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr12:22036400-22044800	Weak transcription	Right Atrium	heart

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