Variant report

Variant	rs62157916
Chromosome Location	chr2:98897525-98897526
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs13402201	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17427608	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17427825	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17428745	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17428990	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17429379	0.82[EUR][1000 genomes]
rs17500406	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17501094	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62155312	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62155317	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62155347	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62155354	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62155355	0.96[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62155358	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62156265	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62156266	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62156268	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62156269	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62156681	0.90[AMR][1000 genomes]
rs62156686	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62156724	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62156744	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62157892	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs62157901	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62157907	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs62157908	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72817785	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72817792	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72817793	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72819903	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72819917	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72819919	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72819921	0.82[EUR][1000 genomes]
rs72819925	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72819927	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv518056	chr2:98586842-99156296	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv1004082	chr2:98792256-98967681	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv535833	chr2:98792256-98967681	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1002366	chr2:98877050-98904494	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv961333	chr2:98894552-98898661	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:98894600-98898400	Enhancers	Esophagus	oesophagus
2	chr2:98895600-98897600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:98896000-98898000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:98896000-98898000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr2:98896000-98898000	Enhancers	Fetal Intestine Small	intestine
6	chr2:98896000-98898200	Enhancers	Fetal Kidney	kidney
7	chr2:98896200-98897800	Enhancers	Colonic Mucosa	Colon
8	chr2:98896600-98898200	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr2:98896800-98897600	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr2:98896800-98897600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr2:98896800-98897600	Enhancers	NHDF-Ad	bronchial
12	chr2:98896800-98898600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr2:98897000-98897600	Flanking Active TSS	Duodenum Mucosa	Duodenum
14	chr2:98897000-98897600	Enhancers	Fetal Muscle Leg	muscle
15	chr2:98897000-98897600	Enhancers	Placenta	Placenta
16	chr2:98897000-98897600	Enhancers	Ovary	ovary
17	chr2:98897000-98897600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
18	chr2:98897000-98897600	Bivalent Enhancer	HUVEC	blood vessel
19	chr2:98897000-98897800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
20	chr2:98897200-98897600	Enhancers	Fetal Intestine Large	intestine
21	chr2:98897200-98898200	Weak transcription	Gastric	stomach
22	chr2:98897200-98898600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr2:98897200-98898600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr2:98897200-98898600	Enhancers	Stomach Mucosa	stomach
25	chr2:98897400-98897800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr2:98897400-98897800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr2:98897400-98898000	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr2:98897400-98898400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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