Variant report

Variant	rs861351
Chromosome Location	chr1:226971263-226971264
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:226971197..226973651-chr1:226973799..226975967,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12735680	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs41490347	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4653769	0.97[ASN][1000 genomes]
rs4653770	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs708763	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs708764	1.00[EUR][1000 genomes]
rs708765	1.00[EUR][1000 genomes]
rs835653	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs835656	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs835658	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs835660	1.00[EUR][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:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226966600-226986400	Weak transcription	Right Atrium	heart
2	chr1:226966800-226971800	Weak transcription	Fetal Muscle Leg	muscle
3	chr1:226967000-226971600	Weak transcription	Adipose Nuclei	Adipose
4	chr1:226967400-226972000	Weak transcription	NHDF-Ad	bronchial
5	chr1:226967600-226971600	Weak transcription	Stomach Smooth Muscle	stomach
6	chr1:226967600-226973000	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr1:226967800-226972000	Weak transcription	GM12878-XiMat	blood
8	chr1:226968000-226971800	Weak transcription	Fetal Intestine Small	intestine
9	chr1:226968000-226975000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr1:226969200-226974400	Enhancers	Brain Substantia Nigra	brain
11	chr1:226969600-226976400	Enhancers	Brain Cingulate Gyrus	brain
12	chr1:226969800-226972800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr1:226970000-226971400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr1:226970000-226972200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr1:226970000-226972600	Enhancers	Brain Inferior Temporal Lobe	brain
16	chr1:226970600-226974400	Enhancers	Brain Hippocampus Middle	brain
17	chr1:226970800-226977000	Enhancers	Rectal Smooth Muscle	rectum
18	chr1:226971000-226971400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
19	chr1:226971000-226971800	Enhancers	Brain Angular Gyrus	brain
20	chr1:226971000-226972000	Weak transcription	Brain Anterior Caudate	brain
21	chr1:226971000-226972400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr1:226971000-226972600	Enhancers	NH-A	brain
23	chr1:226971000-226976400	Enhancers	Colon Smooth Muscle	Colon
24	chr1:226971200-226972600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr1:226971200-226972600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr1:226971200-226972600	Enhancers	Fetal Stomach	stomach
27	chr1:226971200-226972600	Enhancers	HSMMtube	muscle
28	chr1:226971200-226972600	Enhancers	HUVEC	blood vessel
29	chr1:226971200-226976400	Enhancers	Cortex derived primary cultured neurospheres	brain

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