Variant report

Variant	rs74111222
Chromosome Location	chr1:113734329-113734330
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs55871153	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56274733	0.81[AFR][1000 genomes]
rs56889519	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6681895	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6691382	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6691781	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74111214	0.80[AFR][1000 genomes]
rs74111218	0.92[AFR][1000 genomes]
rs7515878	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002971	chr1:112924725-113740584	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
2	nsv535059	chr1:112924725-113740584	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
3	nsv1010276	chr1:113123932-113740584	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	158 gene(s)	inside rSNPs	diseases
4	nsv1012119	chr1:113214869-113759081	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
5	nsv535060	chr1:113214869-113759081	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
6	nsv529238	chr1:113229946-113759080	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
7	esv18293	chr1:113375437-113852815	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
8	nsv1007045	chr1:113425222-113839910	Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
9	nsv427719	chr1:113570229-114078388	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
10	nsv2465	chr1:113731589-113776605	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 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	chr1:113733200-113734600	Active TSS	Rectal Mucosa Donor 29	rectum
2	chr1:113733400-113745200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:113733800-113734400	Active TSS	Brain Anterior Caudate	brain
4	chr1:113733800-113734400	Active TSS	Duodenum Mucosa	Duodenum
5	chr1:113733800-113734800	Enhancers	Hela-S3	cervix
6	chr1:113734000-113734400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
7	chr1:113734000-113734600	ZNF genes & repeats	Lung	lung
8	chr1:113734000-113735000	Enhancers	Esophagus	oesophagus
9	chr1:113734000-113735200	Flanking Active TSS	GM12878-XiMat	blood
10	chr1:113734200-113734400	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr1:113734200-113734400	Flanking Active TSS	Colonic Mucosa	Colon
12	chr1:113734200-113734800	Active TSS	A549	lung
13	chr1:113734200-113734800	Enhancers	HMEC	breast
14	chr1:113734200-113735000	Enhancers	Left Ventricle	heart
15	chr1:113734200-113735200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr1:113734200-113735200	Enhancers	Sigmoid Colon	Sigmoid Colon
17	chr1:113734200-113735200	Enhancers	Stomach Mucosa	stomach
18	chr1:113734200-113735800	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr1:113734200-113740800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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dbSNP/dbVar ID: rs12345 /nsv7879
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