Variant report

Variant	rs4953593
Chromosome Location	chr2:48780022-48780023
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:48773822..48775873-chr2:48777456..48780403,2	K562	blood:

Extended variants
information (count: 69 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10495953	0.84[EUR][1000 genomes]
rs11125176	0.97[EUR][1000 genomes]
rs11676150	0.82[EUR][1000 genomes]
rs11678306	0.86[EUR][1000 genomes]
rs11680574	0.84[EUR][1000 genomes]
rs11681276	0.81[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs11681426	0.90[EUR][1000 genomes]
rs11681868	0.86[EUR][1000 genomes]
rs11683611	0.86[EUR][1000 genomes]
rs11693429	0.82[EUR][1000 genomes]
rs11693559	0.86[EUR][1000 genomes]
rs11693691	0.86[EUR][1000 genomes]
rs12990079	0.82[EUR][1000 genomes]
rs12992755	0.86[EUR][1000 genomes]
rs12992870	0.89[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs12999304	0.91[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs13010692	0.90[EUR][1000 genomes]
rs13014112	0.84[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs13016899	0.80[EUR][1000 genomes]
rs13025488	0.84[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs13027618	0.89[EUR][1000 genomes]
rs13030948	0.87[EUR][1000 genomes]
rs13031184	0.88[EUR][1000 genomes]
rs13034063	0.88[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs13034951	0.90[EUR][1000 genomes]
rs17039250	0.88[EUR][1000 genomes]
rs2103112	0.88[EUR][1000 genomes]
rs2177489	0.84[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs2293270	0.91[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs2293272	0.91[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs2293274	0.91[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs2349098	0.82[EUR][1000 genomes]
rs2882084	0.88[EUR][1000 genomes]
rs3749144	0.87[EUR][1000 genomes]
rs3749145	0.89[EUR][1000 genomes]
rs3792236	0.89[EUR][1000 genomes]
rs3792237	0.86[EUR][1000 genomes]
rs3828340	0.85[EUR][1000 genomes]
rs4566410	0.86[EUR][1000 genomes]
rs55641971	0.88[EUR][1000 genomes]
rs55700200	0.89[EUR][1000 genomes]
rs55858189	0.84[EUR][1000 genomes]
rs56111874	0.89[EUR][1000 genomes]
rs62135201	0.93[EUR][1000 genomes]
rs62135231	0.89[EUR][1000 genomes]
rs62135232	0.89[EUR][1000 genomes]
rs62135233	0.88[EUR][1000 genomes]
rs62135236	0.89[EUR][1000 genomes]
rs66888174	0.84[EUR][1000 genomes]
rs6709043	0.82[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs6712592	0.85[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs6712724	0.90[EUR][1000 genomes]
rs6722556	0.88[EUR][1000 genomes]
rs6729860	0.81[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs6732365	0.86[EUR][1000 genomes]
rs6737732	0.92[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs6741341	0.84[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs6741677	0.88[EUR][1000 genomes]
rs6742725	0.84[EUR][1000 genomes]
rs6757847	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005954	chr2:48692696-48905723	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv535682	chr2:48692696-48905723	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv833981	chr2:48705444-48878179	ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1007491	chr2:48752185-48796441	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv535683	chr2:48752185-48796441	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv581776	chr2:48763382-48913019	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv1000419	chr2:48766957-48795327	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv1010494	chr2:48767055-49027310	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
9	nsv1002793	chr2:48771220-49466550	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4953593	STON1-GTF2A1L	cis	lung	GTEx

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48759000-48787000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr2:48759000-48787400	Weak transcription	Psoas Muscle	Psoas
3	chr2:48759000-48827600	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr2:48759200-48793200	Weak transcription	Fetal Lung	lung
5	chr2:48767200-48807800	Weak transcription	Aorta	Aorta
6	chr2:48768000-48787600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr2:48768000-48793800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr2:48769400-48780200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr2:48771000-48781200	Weak transcription	HSMMtube	muscle
10	chr2:48772600-48788000	Weak transcription	Lung	lung
11	chr2:48772800-48787400	Weak transcription	Fetal Muscle Trunk	muscle
12	chr2:48772800-48787600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr2:48773000-48785400	Weak transcription	Fetal Muscle Leg	muscle
14	chr2:48773000-48787200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr2:48773000-48808800	Weak transcription	Right Ventricle	heart
16	chr2:48773600-48787600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr2:48774800-48786400	Weak transcription	Left Ventricle	heart
18	chr2:48775400-48787400	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr2:48775800-48793600	Weak transcription	Placenta	Placenta
20	chr2:48776200-48780800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr2:48776400-48786000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr2:48776600-48780800	Weak transcription	Osteobl	bone
23	chr2:48776600-48786800	Weak transcription	Rectal Smooth Muscle	rectum
24	chr2:48776600-48794000	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr2:48777200-48807800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr2:48778600-48781200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr2:48779000-48785400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr2:48779200-48781000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr2:48779200-48781000	Weak transcription	Fetal Stomach	stomach
30	chr2:48779200-48781000	Weak transcription	Spleen	Spleen
31	chr2:48779200-48781400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr2:48779200-48787600	Weak transcription	Esophagus	oesophagus
33	chr2:48779200-48789800	Weak transcription	Ovary	ovary
34	chr2:48779400-48800200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr2:48779600-48780400	Weak transcription	Colon Smooth Muscle	Colon
36	chr2:48780000-48781800	Enhancers	Stomach Smooth Muscle	stomach

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