Variant report

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12132893	1.00[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3213436	0.91[CHD][hapmap]
rs6703170	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs708761	0.91[CEU][hapmap];0.88[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:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226960600-226970000	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr1:226966600-226986400	Weak transcription	Right Atrium	heart
3	chr1:226966800-226971800	Weak transcription	Fetal Muscle Leg	muscle
4	chr1:226967000-226971200	Weak transcription	HUVEC	blood vessel
5	chr1:226967000-226971600	Weak transcription	Adipose Nuclei	Adipose
6	chr1:226967400-226972000	Weak transcription	NHDF-Ad	bronchial
7	chr1:226967600-226970800	Weak transcription	Rectal Smooth Muscle	rectum
8	chr1:226967600-226971600	Weak transcription	Stomach Smooth Muscle	stomach
9	chr1:226967600-226973000	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr1:226967800-226971000	Weak transcription	Colon Smooth Muscle	Colon
11	chr1:226967800-226971200	Weak transcription	Fetal Stomach	stomach
12	chr1:226967800-226971200	Weak transcription	HSMMtube	muscle
13	chr1:226967800-226972000	Weak transcription	GM12878-XiMat	blood
14	chr1:226968000-226971800	Weak transcription	Fetal Intestine Small	intestine
15	chr1:226968000-226975000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr1:226969200-226974400	Enhancers	Brain Substantia Nigra	brain
17	chr1:226969600-226970600	Weak transcription	Brain Hippocampus Middle	brain
18	chr1:226969600-226976400	Enhancers	Brain Cingulate Gyrus	brain
19	chr1:226969800-226970200	Weak transcription	Brain Anterior Caudate	brain
20	chr1:226969800-226972800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

Quick Search: