Variant report

Variant	rs57812062
Chromosome Location	chr5:126157795-126157796
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:126156930..126159583-chr5:126163283..126166232,2	K562	blood:
2	chr5:126152579..126154703-chr5:126156644..126158568,2	K562	blood:

Variant related genes	Relation type
ENSG00000113368	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11241908	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11241910	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11741648	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11748362	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11748369	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12514715	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13176550	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13181450	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1964723	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2036847	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2408776	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34740558	0.81[ASN][1000 genomes]
rs35091677	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35156477	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35500127	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3805738	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3805744	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3828699	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6595736	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6595738	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs67386870	0.91[ASN][1000 genomes]
rs6873056	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6873780	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6874037	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6894559	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72798244	0.84[ASN][1000 genomes]
rs7708419	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7709312	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949054	chr5:125918148-126254480	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	nsv534292	chr5:125993451-126259315	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	esv2477910	chr5:126157688-126159281	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126114600-126161600	Weak transcription	Ovary	ovary
2	chr5:126130400-126165800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr5:126132200-126161200	Weak transcription	Gastric	stomach
4	chr5:126136000-126175200	Strong transcription	Dnd41	blood
5	chr5:126136400-126162400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr5:126137600-126166600	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr5:126139800-126160600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr5:126139800-126175400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr5:126140000-126162000	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr5:126140000-126162200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
11	chr5:126140000-126175200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr5:126140000-126175400	Strong transcription	Fetal Thymus	thymus
13	chr5:126140200-126161400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
14	chr5:126140200-126161800	Strong transcription	HUES48 Cell Line	embryonic stem cell
15	chr5:126140200-126162600	Weak transcription	Colonic Mucosa	Colon
16	chr5:126140200-126163400	Weak transcription	Pancreas	Pancrea
17	chr5:126140400-126161200	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr5:126140400-126161800	Weak transcription	Placenta	Placenta
19	chr5:126140400-126162200	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr5:126140600-126161600	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr5:126140800-126161400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr5:126141000-126159200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr5:126141000-126177400	Weak transcription	Small Intestine	intestine
24	chr5:126141200-126161400	Weak transcription	Lung	lung
25	chr5:126141200-126181800	Weak transcription	Rectal Smooth Muscle	rectum
26	chr5:126141400-126174200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr5:126141600-126162200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr5:126141600-126167400	Weak transcription	Brain Substantia Nigra	brain
29	chr5:126142600-126161200	Weak transcription	Spleen	Spleen
30	chr5:126144200-126161600	Strong transcription	H1 Cell Line	embryonic stem cell
31	chr5:126144400-126173200	Weak transcription	Esophagus	oesophagus
32	chr5:126146000-126183200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr5:126146000-126183600	Weak transcription	Left Ventricle	heart
34	chr5:126147400-126157800	Strong transcription	Fetal Intestine Large	intestine
35	chr5:126147400-126161600	Strong transcription	HUES6 Cell Line	embryonic stem cell
36	chr5:126147600-126161600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr5:126147600-126167600	Strong transcription	GM12878-XiMat	blood
38	chr5:126147800-126161400	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr5:126147800-126161800	Weak transcription	Brain Anterior Caudate	brain
40	chr5:126147800-126165600	Weak transcription	Brain Cingulate Gyrus	brain
41	chr5:126147800-126170400	Weak transcription	Stomach Mucosa	stomach
42	chr5:126147800-126171600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr5:126148200-126158000	Weak transcription	Fetal Heart	heart
44	chr5:126148200-126161400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr5:126148200-126161400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr5:126148200-126162200	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr5:126148200-126182400	Weak transcription	HSMMtube	muscle
48	chr5:126148200-126193200	Weak transcription	Brain Angular Gyrus	brain
49	chr5:126149200-126170000	Weak transcription	Aorta	Aorta
50	chr5:126149600-126181400	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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