Variant report

Variant	rs708764
Chromosome Location	chr1:226970890-226970891
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs4520384	0.92[AFR][1000 genomes]
rs57594469	0.86[AFR][1000 genomes]
rs59692841	0.86[AFR][1000 genomes]
rs60294511	0.86[AFR][1000 genomes]
rs60560949	0.86[AFR][1000 genomes]
rs6426540	0.97[AFR][1000 genomes]
rs708763	1.00[EUR][1000 genomes]
rs708765	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs835653	1.00[EUR][1000 genomes]
rs835658	1.00[EUR][1000 genomes]
rs835660	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs861351	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:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226966600-226986400	Weak transcription	Right Atrium	heart
2	chr1:226966800-226971800	Weak transcription	Fetal Muscle Leg	muscle
3	chr1:226967000-226971200	Weak transcription	HUVEC	blood vessel
4	chr1:226967000-226971600	Weak transcription	Adipose Nuclei	Adipose
5	chr1:226967400-226972000	Weak transcription	NHDF-Ad	bronchial
6	chr1:226967600-226971600	Weak transcription	Stomach Smooth Muscle	stomach
7	chr1:226967600-226973000	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr1:226967800-226971000	Weak transcription	Colon Smooth Muscle	Colon
9	chr1:226967800-226971200	Weak transcription	Fetal Stomach	stomach
10	chr1:226967800-226971200	Weak transcription	HSMMtube	muscle
11	chr1:226967800-226972000	Weak transcription	GM12878-XiMat	blood
12	chr1:226968000-226971800	Weak transcription	Fetal Intestine Small	intestine
13	chr1:226968000-226975000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr1:226969200-226974400	Enhancers	Brain Substantia Nigra	brain
15	chr1:226969600-226976400	Enhancers	Brain Cingulate Gyrus	brain
16	chr1:226969800-226972800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr1:226970000-226971400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr1:226970000-226972200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr1:226970000-226972600	Enhancers	Brain Inferior Temporal Lobe	brain
20	chr1:226970200-226971000	Enhancers	Brain Anterior Caudate	brain
21	chr1:226970600-226974400	Enhancers	Brain Hippocampus Middle	brain
22	chr1:226970800-226977000	Enhancers	Rectal Smooth Muscle	rectum

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