Variant report

Variant	rs2544443
Chromosome Location	chr12:22034938-22034939
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:22034102..22036993-chr12:22040454..22043984,3	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10743427	1.00[YRI][hapmap]
rs10770864	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs10770865	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs10841913	1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11836605	1.00[AMR][1000 genomes]
rs1283796	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1283803	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs1283818	1.00[AMR][1000 genomes]
rs1826365	1.00[ASW][hapmap]
rs4762718	1.00[AMR][1000 genomes]
rs60507695	1.00[AMR][1000 genomes]
rs60867568	1.00[AMR][1000 genomes]
rs697250	1.00[YRI][hapmap]
rs697251	1.00[YRI][hapmap]
rs704195	1.00[YRI][hapmap]
rs704199	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs704200	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs704201	1.00[AMR][1000 genomes]
rs704204	1.00[AMR][1000 genomes]
rs704207	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs704213	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs704214	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs704216	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs704218	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73249205	1.00[AMR][1000 genomes]
rs73262354	1.00[AMR][1000 genomes]
rs73262383	1.00[AMR][1000 genomes]
rs73262391	1.00[AMR][1000 genomes]
rs73262395	1.00[AMR][1000 genomes]
rs73266378	1.00[AMR][1000 genomes]
rs73266381	1.00[AMR][1000 genomes]
rs7975476	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs7979299	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs829067	1.00[AMR][1000 genomes]
rs829071	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	esv1847099	chr12:22003544-22035425	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	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:25 , 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	chr12:22033600-22036200	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr12:22033600-22038400	Enhancers	Fetal Heart	heart
11	chr12:22033800-22037800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr12:22034200-22036400	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr12:22034600-22035000	Strong transcription	Fetal Muscle Leg	muscle
14	chr12:22034600-22035200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr12:22034600-22035200	Enhancers	Psoas Muscle	Psoas
16	chr12:22034800-22035000	Enhancers	Right Atrium	heart
17	chr12:22034800-22035000	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr12:22034800-22035200	Enhancers	Adipose Nuclei	Adipose
19	chr12:22034800-22035200	Enhancers	Ovary	ovary
20	chr12:22034800-22035200	Flanking Active TSS	Rectal Smooth Muscle	rectum
21	chr12:22034800-22035400	Enhancers	Duodenum Smooth Muscle	Duodenum
22	chr12:22034800-22035400	Enhancers	Stomach Smooth Muscle	stomach
23	chr12:22034800-22035600	Enhancers	Colon Smooth Muscle	Colon
24	chr12:22034800-22035800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr12:22034800-22035800	Enhancers	Fetal Stomach	stomach

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