Variant report

Variant	rs12132893
Chromosome Location	chr1:226972178-226972179
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:226971197..226973651-chr1:226973799..226975967,2	K562	blood:
2	chr1:226971556..226974581-chr1:226976599..226980457,4	K562	blood:
3	chr1:226968543..226970369-chr1:226971928..226975066,3	K562	blood:

Variant related genes	Relation type
ENSG00000238183	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12409752	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1800681	0.93[JPT][hapmap]
rs3213436	0.93[JPT][hapmap]
rs6426554	0.81[JPT][hapmap]
rs6676067	0.93[JPT][hapmap]
rs6703170	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs708761	0.91[CEU][hapmap];0.87[EUR][1000 genomes]
rs732479	0.93[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997468	chr1:226858660-226975311	Enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv535316	chr1:226858660-226975311	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226966600-226986400	Weak transcription	Right Atrium	heart
2	chr1:226967600-226973000	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr1:226968000-226975000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr1:226969200-226974400	Enhancers	Brain Substantia Nigra	brain
5	chr1:226969600-226976400	Enhancers	Brain Cingulate Gyrus	brain
6	chr1:226969800-226972800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr1:226970000-226972200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr1:226970000-226972600	Enhancers	Brain Inferior Temporal Lobe	brain
9	chr1:226970600-226974400	Enhancers	Brain Hippocampus Middle	brain
10	chr1:226970800-226977000	Enhancers	Rectal Smooth Muscle	rectum
11	chr1:226971000-226972400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr1:226971000-226972600	Enhancers	NH-A	brain
13	chr1:226971000-226976400	Enhancers	Colon Smooth Muscle	Colon
14	chr1:226971200-226972600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr1:226971200-226972600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr1:226971200-226972600	Enhancers	Fetal Stomach	stomach
17	chr1:226971200-226972600	Enhancers	HSMMtube	muscle
18	chr1:226971200-226972600	Enhancers	HUVEC	blood vessel
19	chr1:226971200-226976400	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr1:226971400-226973600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr1:226971600-226972200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr1:226971600-226972200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr1:226971600-226972200	Weak transcription	Fetal Muscle Trunk	muscle
24	chr1:226971600-226972600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr1:226971600-226972600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr1:226971600-226972600	Enhancers	Adipose Nuclei	Adipose
27	chr1:226971600-226986800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr1:226971800-226972200	Enhancers	Fetal Intestine Small	intestine
29	chr1:226971800-226972200	Flanking Active TSS	Stomach Smooth Muscle	stomach
30	chr1:226971800-226972400	Weak transcription	Brain Angular Gyrus	brain
31	chr1:226971800-226972600	Enhancers	HSMM	muscle
32	chr1:226971800-226973800	Enhancers	Fetal Muscle Leg	muscle
33	chr1:226972000-226972200	Enhancers	Brain Germinal Matrix	brain
34	chr1:226972000-226972200	Enhancers	Fetal Intestine Large	intestine
35	chr1:226972000-226972400	Enhancers	NHDF-Ad	bronchial
36	chr1:226972000-226972800	Enhancers	GM12878-XiMat	blood
37	chr1:226972000-226975600	Enhancers	Brain Anterior Caudate	brain

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