Variant report

Variant	rs2543072
Chromosome Location	chr8:39850012-39850013
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10104711	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1362849	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1362850	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1421214	0.87[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2015592	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs2543077	0.82[ASN][1000 genomes]
rs2543079	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2543080	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2729472	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2729478	1.00[ASN][1000 genomes]
rs2729480	0.82[ASN][1000 genomes]
rs2729482	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs888443	0.82[ASN][1000 genomes]
rs888444	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[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	nsv539555	chr8:39683857-40673606	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1033371	chr8:39749437-39899540	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 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	chr8:39835200-39853600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:39843000-39853000	Weak transcription	Lung	lung
3	chr8:39847200-39851200	Enhancers	Rectal Smooth Muscle	rectum
4	chr8:39847600-39851200	Enhancers	Fetal Heart	heart
5	chr8:39847600-39851400	Enhancers	Colon Smooth Muscle	Colon
6	chr8:39847600-39853600	Weak transcription	Fetal Muscle Trunk	muscle
7	chr8:39847800-39851200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr8:39847800-39854800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr8:39848200-39850200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr8:39848400-39850200	Enhancers	A549	lung
11	chr8:39848800-39850200	Weak transcription	Fetal Stomach	stomach
12	chr8:39849000-39850200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr8:39849000-39850200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr8:39849000-39850200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr8:39849000-39853400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr8:39849200-39850200	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr8:39849400-39850600	Enhancers	Right Atrium	heart
18	chr8:39849600-39850400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr8:39849600-39850400	Enhancers	Duodenum Mucosa	Duodenum
20	chr8:39849600-39850600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr8:39849600-39850600	Enhancers	Left Ventricle	heart
22	chr8:39849600-39851400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr8:39849800-39850600	Enhancers	Ovary	ovary
24	chr8:39849800-39851000	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr8:39849800-39851000	Enhancers	Right Ventricle	heart
26	chr8:39849800-39851000	Flanking Active TSS	Stomach Smooth Muscle	stomach
27	chr8:39849800-39853600	Weak transcription	Fetal Muscle Leg	muscle
28	chr8:39850000-39850400	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr8:39850000-39850600	Enhancers	Brain Cingulate Gyrus	brain

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