Variant report

Variant	rs72996313
Chromosome Location	chr1:113378474-113378475
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs4348718	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4501838	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56926165	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57229341	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57922004	1.00[AMR][1000 genomes]
rs59716713	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61425247	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6661427	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6669638	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6670109	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6671379	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6672752	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6673542	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6673564	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6679888	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6684227	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6688777	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6688787	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6688789	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6703705	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72994119	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72994146	0.97[AFR][1000 genomes]
rs72996311	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72996345	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 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	nsv533295	chr1:113167645-113589588	Flanking Active TSS Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
5	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
6	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
7	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
8	nsv818378	chr1:113263711-113434818	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
9	nsv1008434	chr1:113288282-113447426	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
10	nsv997426	chr1:113288282-113639507	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
11	nsv1004102	chr1:113295805-113551210	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
12	nsv872160	chr1:113301657-113409751	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
13	nsv547567	chr1:113313563-113384015	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
14	nsv1000352	chr1:113350929-113405903	Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
15	nsv1011519	chr1:113351374-113402040	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
16	esv3399982	chr1:113358580-113542255	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
17	esv3374684	chr1:113359959-113414316	Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
18	nsv999915	chr1:113360145-113684833	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
19	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
20	esv3360645	chr1:113375959-113414652	Enhancers Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
21	esv3362439	chr1:113376621-113450321	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:113364200-113392000	Weak transcription	Right Atrium	heart
2	chr1:113365200-113382600	Weak transcription	HUVEC	blood vessel
3	chr1:113369200-113392000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr1:113369600-113383600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr1:113370000-113379400	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr1:113370000-113383400	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr1:113370600-113383400	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr1:113370600-113383400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr1:113374600-113383200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr1:113375600-113379400	Weak transcription	Placenta	Placenta
11	chr1:113376800-113379400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr1:113376800-113379400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr1:113376800-113383400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr1:113378200-113378600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr1:113378200-113379400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr1:113378200-113379800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr1:113378200-113379800	Enhancers	Muscle Satellite Cultured Cells	--
18	chr1:113378400-113379400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr1:113378400-113379600	Enhancers	NHDF-Ad	bronchial
20	chr1:113378400-113379800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr1:113378400-113379800	Enhancers	Osteobl	bone
22	chr1:113378400-113380000	Enhancers	NHEK	skin

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