Variant report

Variant	rs12735680
Chromosome Location	chr1:226972897-226972898
allele	A/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:226957350..226960429-chr1:226972464..226975387,3	K562	blood:
2	chr1:226971197..226973651-chr1:226973799..226975967,2	K562	blood:
3	chr1:226971556..226974581-chr1:226976599..226980457,4	K562	blood:
4	chr1:226968543..226970369-chr1:226971928..226975066,3	K562	blood:

Variant related genes	Relation type
ENSG00000238183	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1124377	0.90[AMR][1000 genomes]
rs12072939	0.87[AMR][1000 genomes]
rs16846452	0.86[AMR][1000 genomes]
rs16846458	0.86[AMR][1000 genomes]
rs16846461	0.86[AMR][1000 genomes]
rs16846464	0.86[AMR][1000 genomes]
rs16846466	0.93[AMR][1000 genomes]
rs41490347	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4653769	0.96[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4653770	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59173465	0.93[AMR][1000 genomes]
rs708763	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs835653	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs835656	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs861351	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]

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:22 , 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	chr1:226970600-226974400	Enhancers	Brain Hippocampus Middle	brain
7	chr1:226970800-226977000	Enhancers	Rectal Smooth Muscle	rectum
8	chr1:226971000-226976400	Enhancers	Colon Smooth Muscle	Colon
9	chr1:226971200-226976400	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr1:226971400-226973600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr1:226971600-226986800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr1:226971800-226973800	Enhancers	Fetal Muscle Leg	muscle
13	chr1:226972000-226975600	Enhancers	Brain Anterior Caudate	brain
14	chr1:226972200-226973600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr1:226972200-226974200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr1:226972200-226976600	Enhancers	Stomach Smooth Muscle	stomach
17	chr1:226972600-226973000	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr1:226972600-226973600	Weak transcription	HSMMtube	muscle
19	chr1:226972600-226973800	Weak transcription	Brain Angular Gyrus	brain
20	chr1:226972600-226974200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr1:226972800-226973200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr1:226972800-226973200	Weak transcription	GM12878-XiMat	blood

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