Variant report

Variant	rs10178938
Chromosome Location	chr2:48627291-48627292
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10164456	1.00[AMR][1000 genomes]
rs10165262	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10167097	1.00[AMR][1000 genomes]
rs10168301	1.00[AMR][1000 genomes]
rs10169977	1.00[AMR][1000 genomes]
rs10170181	1.00[AMR][1000 genomes]
rs10177012	1.00[AMR][1000 genomes]
rs10180159	1.00[AMR][1000 genomes]
rs10183526	1.00[AMR][1000 genomes]
rs10184942	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10186155	1.00[AMR][1000 genomes]
rs10187019	1.00[AMR][1000 genomes]
rs10197056	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10198245	1.00[AMR][1000 genomes]
rs10199098	1.00[AMR][1000 genomes]
rs10199615	1.00[AMR][1000 genomes]
rs10199764	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10200180	1.00[AMR][1000 genomes]
rs10204343	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10206551	1.00[AMR][1000 genomes]
rs10208042	1.00[AMR][1000 genomes]
rs12328834	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12329068	1.00[AMR][1000 genomes]
rs13390201	1.00[AMR][1000 genomes]
rs13391880	1.00[AMR][1000 genomes]
rs13396735	1.00[AMR][1000 genomes]
rs13399261	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13402261	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13408747	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13410143	1.00[AMR][1000 genomes]
rs13418349	1.00[AMR][1000 genomes]
rs13419757	1.00[AFR][1000 genomes]
rs13422341	1.00[AMR][1000 genomes]
rs13424478	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13432235	1.00[AMR][1000 genomes]
rs28623311	1.00[AMR][1000 genomes]
rs28775335	1.00[AMR][1000 genomes]
rs28784960	1.00[AMR][1000 genomes]
rs28893847	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7340280	1.00[AMR][1000 genomes]
rs7355330	1.00[AMR][1000 genomes]
rs9653522	1.00[AMR][1000 genomes]
rs9653523	1.00[AMR][1000 genomes]
rs9653524	1.00[AMR][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	chr2:48626000-48628000	Enhancers	Brain Hippocampus Middle	brain
4	chr2:48626000-48628400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:48626200-48627800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr2:48626200-48628000	Enhancers	Brain Cingulate Gyrus	brain
7	chr2:48626400-48628000	Weak transcription	Fetal Brain Female	brain
8	chr2:48626400-48628400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr2:48626400-48628400	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr2:48626400-48628400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr2:48626600-48628000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr2:48626600-48628200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr2:48626800-48627400	Weak transcription	Brain Anterior Caudate	brain
14	chr2:48626800-48627400	Enhancers	Fetal Intestine Large	intestine
15	chr2:48626800-48628200	Enhancers	Brain Inferior Temporal Lobe	brain
16	chr2:48626800-48628200	Enhancers	Fetal Intestine Small	intestine
17	chr2:48626800-48628600	Enhancers	Duodenum Mucosa	Duodenum
18	chr2:48627000-48627800	Weak transcription	Brain Substantia Nigra	brain
19	chr2:48627000-48628000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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