Variant report

Variant	rs59344104
Chromosome Location	chr1:212692326-212692327
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:212688645..212690882-chr1:212691410..212694199,2	MCF-7	breast:
2	chr1:212681247..212682870-chr1:212690581..212692939,2	K562	blood:
3	chr1:212690794..212693307-chr1:212697888..212699429,2	K562	blood:

Extended variants
information (count: 100 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:93)

rs_ID	r²[population]
rs10157307	1.00[ASN][1000 genomes]
rs10158476	1.00[ASN][1000 genomes]
rs10158543	1.00[ASN][1000 genomes]
rs11119905	1.00[ASN][1000 genomes]
rs11119914	1.00[ASN][1000 genomes]
rs11119915	1.00[ASN][1000 genomes]
rs11804839	1.00[ASN][1000 genomes]
rs11811628	1.00[ASN][1000 genomes]
rs12062234	1.00[ASN][1000 genomes]
rs12067814	1.00[ASN][1000 genomes]
rs12069850	1.00[ASN][1000 genomes]
rs12073991	1.00[ASN][1000 genomes]
rs12076639	1.00[ASN][1000 genomes]
rs12087923	1.00[ASN][1000 genomes]
rs12738431	1.00[ASN][1000 genomes]
rs12739468	1.00[ASN][1000 genomes]
rs13374814	1.00[ASN][1000 genomes]
rs17019384	1.00[ASN][1000 genomes]
rs17042040	1.00[ASN][1000 genomes]
rs28526731	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34004542	1.00[ASN][1000 genomes]
rs34799814	1.00[ASN][1000 genomes]
rs351394	1.00[ASN][1000 genomes]
rs351396	1.00[ASN][1000 genomes]
rs351399	1.00[ASN][1000 genomes]
rs351402	1.00[ASN][1000 genomes]
rs35432717	1.00[ASN][1000 genomes]
rs36061296	1.00[ASN][1000 genomes]
rs376547	1.00[ASN][1000 genomes]
rs404987	1.00[ASN][1000 genomes]
rs411278	1.00[ASN][1000 genomes]
rs41314256	1.00[ASN][1000 genomes]
rs56862824	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57377970	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57847431	1.00[ASN][1000 genomes]
rs58338531	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58752775	1.00[ASN][1000 genomes]
rs58876418	1.00[ASN][1000 genomes]
rs59261419	1.00[ASN][1000 genomes]
rs59408650	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60399349	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60521851	1.00[ASN][1000 genomes]
rs61450816	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61526449	1.00[ASN][1000 genomes]
rs66534834	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66611603	1.00[ASN][1000 genomes]
rs6694503	1.00[ASN][1000 genomes]
rs6697091	1.00[ASN][1000 genomes]
rs66987133	1.00[ASN][1000 genomes]
rs67410757	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67529467	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67770348	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67947916	1.00[ASN][1000 genomes]
rs68028120	1.00[ASN][1000 genomes]
rs68047079	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72752376	1.00[ASN][1000 genomes]
rs72752377	1.00[ASN][1000 genomes]
rs72752384	1.00[ASN][1000 genomes]
rs72752391	1.00[ASN][1000 genomes]
rs72752396	1.00[ASN][1000 genomes]
rs72754304	1.00[ASN][1000 genomes]
rs72754308	1.00[ASN][1000 genomes]
rs72754311	1.00[ASN][1000 genomes]
rs72754313	1.00[ASN][1000 genomes]
rs72754324	1.00[ASN][1000 genomes]
rs72754335	1.00[ASN][1000 genomes]
rs72754344	1.00[ASN][1000 genomes]
rs72754346	1.00[ASN][1000 genomes]
rs72754358	1.00[ASN][1000 genomes]
rs72754374	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72754375	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72754384	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72756307	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72756315	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72756328	1.00[ASN][1000 genomes]
rs72756330	1.00[ASN][1000 genomes]
rs72756331	1.00[ASN][1000 genomes]
rs72756332	1.00[ASN][1000 genomes]
rs72756334	1.00[ASN][1000 genomes]
rs72756335	1.00[ASN][1000 genomes]
rs72756337	1.00[ASN][1000 genomes]
rs72756339	1.00[ASN][1000 genomes]
rs72756341	1.00[ASN][1000 genomes]
rs72756342	1.00[ASN][1000 genomes]
rs72756347	1.00[ASN][1000 genomes]
rs72756348	1.00[ASN][1000 genomes]
rs73073999	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73088569	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74138382	1.00[ASN][1000 genomes]
rs7512515	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7524087	1.00[ASN][1000 genomes]
rs7526983	1.00[ASN][1000 genomes]
rs7544944	1.00[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	nsv549139	chr1:212332294-212876902	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
2	nsv1013110	chr1:212555764-212948092	Flanking Active TSS Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
3	nsv535287	chr1:212555764-212948092	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
4	nsv873162	chr1:212610755-212716033	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv527863	chr1:212617423-212700618	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	esv2757770	chr1:212648143-212843103	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	77 gene(s)	inside rSNPs	diseases
7	esv2758996	chr1:212648143-212843103	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	77 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212688600-212699400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr1:212689000-212695400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:212689200-212693600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr1:212689200-212699800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:212690600-212694000	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr1:212691000-212694600	Enhancers	Fetal Intestine Large	intestine
7	chr1:212691200-212694200	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr1:212691200-212694800	Enhancers	Fetal Intestine Small	intestine
9	chr1:212691400-212692400	Enhancers	Liver	Liver
10	chr1:212691400-212693400	Enhancers	Duodenum Mucosa	Duodenum
11	chr1:212691600-212692400	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr1:212691600-212692400	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr1:212691600-212692400	Enhancers	Osteobl	bone
14	chr1:212691600-212692600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr1:212691600-212692600	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr1:212691800-212692400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr1:212691800-212692400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr1:212691800-212692400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr1:212691800-212692400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr1:212691800-212692400	Enhancers	Brain Hippocampus Middle	brain
21	chr1:212691800-212692400	Enhancers	Fetal Heart	heart
22	chr1:212691800-212692400	Flanking Active TSS	HepG2	liver
23	chr1:212691800-212692400	Enhancers	NH-A	brain
24	chr1:212691800-212692600	Enhancers	Fetal Lung	lung
25	chr1:212691800-212692600	Enhancers	Hela-S3	cervix
26	chr1:212691800-212692800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr1:212691800-212692800	Enhancers	Stomach Mucosa	stomach
28	chr1:212692000-212692400	Enhancers	Colon Smooth Muscle	Colon
29	chr1:212692000-212692400	Enhancers	Esophagus	oesophagus
30	chr1:212692000-212692400	Enhancers	Placenta Amnion	Placenta Amnion
31	chr1:212692000-212692400	Flanking Active TSS	Stomach Smooth Muscle	stomach
32	chr1:212692000-212692600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr1:212692000-212693200	Enhancers	Right Atrium	heart
34	chr1:212692200-212692400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
35	chr1:212692200-212692400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
36	chr1:212692200-212692400	Bivalent Enhancer	NHLF	lung
37	chr1:212692200-212692600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr1:212692200-212692600	Enhancers	Left Ventricle	heart

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