Variant report

Variant	rs2648109
Chromosome Location	chr4:186791726-186791727
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs1026362	0.83[ASN][1000 genomes]
rs11132357	0.90[ASN][1000 genomes]
rs11132358	0.81[ASN][1000 genomes]
rs11132359	0.90[ASN][1000 genomes]
rs11132360	0.91[ASN][1000 genomes]
rs11132361	0.86[ASN][1000 genomes]
rs11721899	0.91[ASN][1000 genomes]
rs11722545	0.84[ASN][1000 genomes]
rs11723186	0.83[ASN][1000 genomes]
rs11725663	0.91[ASN][1000 genomes]
rs11725739	0.91[ASN][1000 genomes]
rs11734074	0.91[ASN][1000 genomes]
rs13114501	0.84[ASN][1000 genomes]
rs13120232	0.83[ASN][1000 genomes]
rs13132627	0.87[ASN][1000 genomes]
rs13138996	0.84[ASN][1000 genomes]
rs13139354	0.84[ASN][1000 genomes]
rs13144263	0.83[ASN][1000 genomes]
rs13144444	0.84[ASN][1000 genomes]
rs13150309	0.82[ASN][1000 genomes]
rs2168165	0.81[ASN][1000 genomes]
rs2648110	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34122211	0.80[ASN][1000 genomes]
rs34457125	0.81[ASN][1000 genomes]
rs34458168	0.81[ASN][1000 genomes]
rs34546820	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35173472	0.84[ASN][1000 genomes]
rs35820308	0.82[ASN][1000 genomes]
rs35834071	0.82[ASN][1000 genomes]
rs36076360	0.82[ASN][1000 genomes]
rs4343763	0.96[ASN][1000 genomes]
rs4861687	0.84[ASN][1000 genomes]
rs4861688	0.84[ASN][1000 genomes]
rs4862581	0.95[ASN][1000 genomes]
rs4862582	0.96[ASN][1000 genomes]
rs4862583	0.82[ASN][1000 genomes]
rs4862584	0.82[ASN][1000 genomes]
rs55737156	0.81[ASN][1000 genomes]
rs55926227	0.81[ASN][1000 genomes]
rs55990211	0.90[ASN][1000 genomes]
rs56086066	0.91[ASN][1000 genomes]
rs56218413	0.81[ASN][1000 genomes]
rs56370835	0.92[ASN][1000 genomes]
rs62335022	0.91[ASN][1000 genomes]
rs6830105	0.84[ASN][1000 genomes]
rs6853037	0.84[ASN][1000 genomes]
rs72707664	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028146	chr4:186503899-187338335	Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv1023917	chr4:186533075-186997806	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv537420	chr4:186533075-186997806	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv530178	chr4:186659940-187478310	Bivalent Enhancer Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv1015236	chr4:186696172-187004074	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1022661	chr4:186789827-187122464	Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
7	nsv537422	chr4:186789827-187122464	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:186785600-186794800	Enhancers	Fetal Heart	heart
2	chr4:186787800-186795400	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr4:186788000-186792400	Weak transcription	Esophagus	oesophagus
4	chr4:186788000-186795400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr4:186789000-186795200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr4:186789000-186799600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr4:186790000-186792200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr4:186790200-186792000	Enhancers	Fetal Brain Female	brain
9	chr4:186790400-186792600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr4:186790600-186791800	Enhancers	H1 Cell Line	embryonic stem cell
11	chr4:186790600-186792000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr4:186790600-186792000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr4:186790600-186792000	Enhancers	Fetal Brain Male	brain
14	chr4:186790600-186792200	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr4:186790600-186795400	Weak transcription	Osteobl	bone
16	chr4:186791000-186795400	Weak transcription	Hela-S3	cervix
17	chr4:186791000-186799600	Weak transcription	Left Ventricle	heart
18	chr4:186791000-186799800	Weak transcription	Pancreas	Pancrea
19	chr4:186791400-186791800	Active TSS	Brain Anterior Caudate	brain
20	chr4:186791400-186791800	Active TSS	Brain Cingulate Gyrus	brain
21	chr4:186791400-186791800	Active TSS	Right Ventricle	heart
22	chr4:186791400-186792000	Enhancers	Brain Angular Gyrus	brain
23	chr4:186791400-186794000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr4:186791600-186791800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
25	chr4:186791600-186791800	Flanking Active TSS	Brain Substantia Nigra	brain
26	chr4:186791600-186791800	Enhancers	Right Atrium	heart
27	chr4:186791600-186792000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr4:186791600-186792000	Flanking Active TSS	Brain Hippocampus Middle	brain
29	chr4:186791600-186792000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
30	chr4:186791600-186792600	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr4:186791600-186792800	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr4:186791600-186795800	Weak transcription	HSMMtube	muscle

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