Variant report

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10182093	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10191938	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10195717	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10197359	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11674217	0.83[EUR][1000 genomes]
rs11674317	0.82[EUR][1000 genomes]
rs11676078	0.83[EUR][1000 genomes]
rs11677205	0.82[EUR][1000 genomes]
rs11678825	0.84[EUR][1000 genomes]
rs11678934	0.90[EUR][1000 genomes]
rs11679685	0.91[EUR][1000 genomes]
rs11680968	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11682838	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11683202	0.83[EUR][1000 genomes]
rs11687276	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11687461	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11687851	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11691302	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11691407	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11692537	0.83[EUR][1000 genomes]
rs11694094	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11694955	0.90[EUR][1000 genomes]
rs13398456	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17397449	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs28505584	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4364065	0.91[EUR][1000 genomes]
rs72889641	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7563030	0.91[AFR][1000 genomes]
rs7573281	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530831	chr2:48059709-48632317	Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	esv2762252	chr2:48554150-48741093	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv581775	chr2:48619869-48714938	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv518718	chr2:48624007-48650308	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48624600-48627800	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr2:48625800-48628600	Enhancers	Brain Angular Gyrus	brain
3	chr2:48626000-48627000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:48626000-48627000	Enhancers	Brain Substantia Nigra	brain
5	chr2:48626000-48628000	Enhancers	Brain Hippocampus Middle	brain
6	chr2:48626000-48628400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:48626200-48627800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr2:48626200-48628000	Enhancers	Brain Cingulate Gyrus	brain
9	chr2:48626400-48628000	Weak transcription	Fetal Brain Female	brain
10	chr2:48626400-48628400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr2:48626400-48628400	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr2:48626400-48628400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr2:48626600-48628000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr2:48626600-48628200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr2:48626800-48627400	Weak transcription	Brain Anterior Caudate	brain
16	chr2:48626800-48627400	Enhancers	Fetal Intestine Large	intestine
17	chr2:48626800-48628200	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr2:48626800-48628200	Enhancers	Fetal Intestine Small	intestine
19	chr2:48626800-48628600	Enhancers	Duodenum Mucosa	Duodenum

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