Variant report

Variant	rs4765562
Chromosome Location	chr12:124472571-124472572
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:124471751..124473354-chr12:124481862..124484429,2	K562	blood:
2	chr12:124349873..124352616-chr12:124471983..124473527,2	MCF-7	breast:
3	chr12:124466662..124469603-chr12:124471217..124474094,3	K562	blood:
4	chr12:124466117..124470076-chr12:124471050..124474861,6	MCF-7	breast:
5	chr12:124469825..124474593-chr12:124481346..124484429,4	K562	blood:

Variant related genes	Relation type
ENSG00000179195	Chromatin interaction

Extended variants
information (count: 98 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:94)

rs_ID	r²[population]
rs1054852	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs10846579	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10846580	0.97[EUR][1000 genomes]
rs11057393	0.90[EUR][1000 genomes]
rs11057394	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11057396	0.97[EUR][1000 genomes]
rs11057397	0.95[EUR][1000 genomes]
rs11057399	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11057400	0.89[EUR][1000 genomes]
rs11057401	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11057407	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11057408	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11057409	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11057412	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11057413	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11831913	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11833002	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11835839	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11837287	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1187415	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12296259	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12298484	0.97[EUR][1000 genomes]
rs12301673	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12303671	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12303933	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12310367	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12311114	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12311848	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12316080	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12317176	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12809125	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12809473	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12823740	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12824567	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12827409	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12829951	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12833624	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1882491	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2130382	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2178663	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3186071	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34102591	0.98[ASN][1000 genomes]
rs34114498	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34180676	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34854841	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34878139	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35099862	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35825716	0.89[EUR][1000 genomes]
rs3789967	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3802999	0.96[EUR][1000 genomes]
rs4405410	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4575361	0.86[EUR][1000 genomes]
rs4765127	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4765148	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4765219	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4765305	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4765335	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4765528	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4765541	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4765568	0.98[ASN][1000 genomes]
rs4930721	0.89[EUR][1000 genomes]
rs4930722	0.89[EUR][1000 genomes]
rs4930723	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4930724	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4930725	0.97[EUR][1000 genomes]
rs4930726	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs55990776	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs56041971	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6488912	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6488913	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6488914	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7131882	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7132655	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7133378	0.85[EUR][1000 genomes]
rs7134121	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7135314	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71458830	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7301953	0.85[EUR][1000 genomes]
rs7305864	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7307053	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7307277	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7311233	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7311969	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7312404	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7955815	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7958691	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7961449	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7966192	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7973683	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7975482	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7978610	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs952632	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9863	0.85[EUR][1000 genomes]
rs9971695	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3493374	chr12:124458433-124496012	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	esv3493363	chr12:124458497-124495976	Strong transcription Genic enhancers Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	esv3493385	chr12:124458565-124495928	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	esv1818097	chr12:124465667-124488972	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4765562	RP11-380L11.4	cis	Esophagus Muscularis	GTEx

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:124459000-124472600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr12:124459000-124472800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr12:124459000-124473400	Weak transcription	Esophagus	oesophagus
4	chr12:124459200-124473200	Weak transcription	Rectal Smooth Muscle	rectum
5	chr12:124459200-124473400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr12:124459200-124477000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr12:124459200-124477200	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr12:124459400-124472600	Weak transcription	Thymus	Thymus
9	chr12:124459400-124474800	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr12:124459400-124474800	Weak transcription	Colonic Mucosa	Colon
11	chr12:124459600-124472600	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr12:124459600-124473200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr12:124459600-124473400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr12:124459600-124474600	Weak transcription	Stomach Mucosa	stomach
15	chr12:124459800-124473200	Weak transcription	Colon Smooth Muscle	Colon
16	chr12:124460200-124474000	Weak transcription	Small Intestine	intestine
17	chr12:124460400-124479800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr12:124460800-124473200	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr12:124460800-124475000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr12:124461200-124472600	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr12:124461200-124472600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr12:124461200-124473600	Weak transcription	HMEC	breast
23	chr12:124461200-124496800	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr12:124461400-124473400	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr12:124462400-124473200	Weak transcription	NHEK	skin
26	chr12:124463600-124472600	Weak transcription	HSMM	muscle
27	chr12:124466000-124477800	Strong transcription	Fetal Stomach	stomach
28	chr12:124467000-124473800	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr12:124467200-124473200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr12:124467200-124473400	Weak transcription	Gastric	stomach
31	chr12:124467400-124472600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr12:124467600-124473400	Weak transcription	Aorta	Aorta
33	chr12:124467800-124473200	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr12:124468800-124475200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
35	chr12:124469000-124472600	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr12:124469000-124473600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr12:124469000-124474600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr12:124469000-124483000	Weak transcription	Ovary	ovary
39	chr12:124469000-124492600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr12:124469400-124479600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr12:124469600-124472600	Weak transcription	Lung	lung
42	chr12:124470000-124478800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr12:124470200-124475000	Strong transcription	Fetal Thymus	thymus
44	chr12:124470200-124478400	Strong transcription	Hela-S3	cervix
45	chr12:124470400-124472600	Weak transcription	HepG2	liver
46	chr12:124470400-124472800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr12:124470400-124473000	Weak transcription	Primary hematopoietic stem cells	blood
48	chr12:124470600-124472600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr12:124470600-124474400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr12:124470600-124475600	Genic enhancers	Fetal Intestine Large	intestine

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