Variant report

Variant	rs34299544
Chromosome Location	chr4:175414278-175414279
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs11726385	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11728322	0.80[ASN][1000 genomes]
rs13106936	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13118007	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13126570	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13127058	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13132442	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13132689	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17052159	0.80[ASN][1000 genomes]
rs17052161	0.80[ASN][1000 genomes]
rs17052168	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17060521	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17060554	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2195039	0.80[ASN][1000 genomes]
rs2303520	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2332898	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34939184	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35223598	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35549890	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35780342	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35906694	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4147100	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs45444797	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs45556037	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59300323	0.80[ASN][1000 genomes]
rs62337142	0.80[ASN][1000 genomes]
rs62337145	0.82[ASN][1000 genomes]
rs62337147	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62337155	0.82[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs62337158	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62338684	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6827776	0.82[ASN][1000 genomes]
rs7665165	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7682749	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7691789	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9312555	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869116	chr4:175231090-175801761	Flanking Active TSS Enhancers Genic enhancers Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
2	nsv525487	chr4:175400104-175470867	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv881299	chr4:175403673-175415442	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv880289	chr4:175412975-175437117	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv881270	chr4:175413296-175425619	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:175396000-175442800	Weak transcription	Esophagus	oesophagus
2	chr4:175406800-175415200	Weak transcription	Fetal Intestine Large	intestine
3	chr4:175406800-175415800	Weak transcription	Fetal Intestine Small	intestine
4	chr4:175407000-175415000	Weak transcription	Primary T cells from cord blood	blood
5	chr4:175409200-175415000	Weak transcription	Fetal Thymus	thymus
6	chr4:175409400-175424000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr4:175410000-175424600	Weak transcription	Fetal Stomach	stomach
8	chr4:175410000-175440800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr4:175410400-175418000	Weak transcription	Rectal Smooth Muscle	rectum
10	chr4:175410800-175417400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr4:175410800-175420800	Weak transcription	Lung	lung
12	chr4:175410800-175425400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr4:175410800-175430800	Weak transcription	Gastric	stomach
14	chr4:175410800-175440000	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr4:175411000-175418200	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr4:175411600-175416600	Weak transcription	Colon Smooth Muscle	Colon
17	chr4:175412000-175428400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr4:175412400-175417800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr4:175412600-175414400	Enhancers	A549	lung
20	chr4:175412600-175415000	Weak transcription	Stomach Mucosa	stomach
21	chr4:175412600-175418000	Weak transcription	Hela-S3	cervix
22	chr4:175412600-175418400	Strong transcription	Placenta	Placenta
23	chr4:175412800-175414400	Strong transcription	Duodenum Mucosa	Duodenum
24	chr4:175412800-175417200	Strong transcription	Liver	Liver
25	chr4:175412800-175418200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr4:175413800-175415400	Enhancers	Muscle Satellite Cultured Cells	--
27	chr4:175413800-175416000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr4:175413800-175416400	Strong transcription	Primary hematopoietic stem cells	blood
29	chr4:175413800-175418200	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr4:175414200-175417200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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