Variant report

Variant	rs11057412
Chromosome Location	chr12:124489142-124489143
allele	A/C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:124479273..124483695-chr12:124485266..124489724,5	K562	blood:
2	chr12:124484342..124486800-chr12:124487577..124490631,4	K562	blood:

Variant related genes	Relation type
ENSG00000179195	Chromatin interaction

Extended variants
information (count: 97 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1054852	0.81[CEU][hapmap];0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs10846579	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10846580	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs11057393	0.89[EUR][1000 genomes]
rs11057394	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11057396	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs11057397	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs11057399	0.97[EUR][1000 genomes]
rs11057400	0.89[EUR][1000 genomes]
rs11057401	0.92[CEU][hapmap];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11057407	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11057408	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11057409	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11057413	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11831913	0.93[CEU][hapmap];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11833002	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11835839	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11837287	0.96[CEU][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1187415	1.00[CEU][hapmap];0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12296259	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12298484	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs12301673	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12303671	1.00[CEU][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12303933	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12310367	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12311114	0.92[CEU][hapmap];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12311848	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12316080	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12317176	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12809125	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12809473	0.96[CEU][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12823740	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12824567	0.93[CEU][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12827409	0.96[CEU][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12829951	0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12833624	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1882491	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2130382	0.89[CEU][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2178663	0.92[CEU][hapmap];0.87[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];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34180676	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34854841	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34878139	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35099862	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35825716	0.89[EUR][1000 genomes]
rs3789967	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3802999	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs4405410	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4575361	0.85[EUR][1000 genomes]
rs4765127	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4765148	0.92[CEU][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4765219	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4765305	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4765335	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4765528	0.92[CEU][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4765541	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4765562	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4765568	0.98[ASN][1000 genomes]
rs4930721	0.88[CEU][hapmap];0.88[EUR][1000 genomes]
rs4930722	0.88[EUR][1000 genomes]
rs4930723	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs4930724	0.92[CEU][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4930725	0.97[EUR][1000 genomes]
rs4930726	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs55990776	0.90[EUR][1000 genomes]
rs56041971	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6488912	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6488913	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6488914	0.92[CEU][hapmap];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7131882	0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7132655	0.96[CEU][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7133378	0.92[CEU][hapmap];0.84[EUR][1000 genomes]
rs7134121	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7135314	0.96[CEU][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71458830	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7301953	0.93[CEU][hapmap];0.85[EUR][1000 genomes]
rs7305864	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7307053	0.92[CEU][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7307277	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7311233	0.92[CEU][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7311969	1.00[CEU][hapmap];0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7312404	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7955815	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7958691	0.96[CEU][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7961449	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7966192	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7973683	1.00[CEU][hapmap];0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7975482	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7978610	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs952632	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9863	0.81[CEU][hapmap];0.84[EUR][1000 genomes]
rs9971695	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.95[EUR][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	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11057412	RP11-380L11.4	cis	Esophagus Muscularis	GTEx

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:124461200-124496800	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr12:124469000-124492600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr12:124470800-124490200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr12:124474400-124490400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr12:124476200-124492400	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr12:124478000-124490200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr12:124478200-124489400	Enhancers	Fetal Heart	heart
8	chr12:124478600-124490200	Strong transcription	HepG2	liver
9	chr12:124479400-124493400	Strong transcription	Dnd41	blood
10	chr12:124479800-124493000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
11	chr12:124480400-124489200	Strong transcription	Fetal Muscle Trunk	muscle
12	chr12:124480600-124496200	Weak transcription	Small Intestine	intestine
13	chr12:124481000-124490200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr12:124481200-124492400	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr12:124481600-124489400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr12:124481600-124492800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr12:124482000-124489200	Strong transcription	Primary B cells from peripheral blood	blood
18	chr12:124482000-124489400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr12:124482200-124490200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr12:124482200-124490600	Genic enhancers	Fetal Thymus	thymus
21	chr12:124482800-124489800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
22	chr12:124482800-124490200	Strong transcription	Fetal Brain Female	brain
23	chr12:124483200-124492400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr12:124483600-124490200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr12:124483600-124491600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr12:124483600-124494800	Weak transcription	HUVEC	blood vessel
27	chr12:124483600-124495000	Weak transcription	NH-A	brain
28	chr12:124483800-124489800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr12:124483800-124490200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr12:124483800-124493000	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr12:124484400-124498400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr12:124484600-124489200	Strong transcription	A549	lung
33	chr12:124484600-124490200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr12:124485000-124489600	Strong transcription	Cortex derived primary cultured neurospheres	brain
35	chr12:124485000-124498800	Strong transcription	Hela-S3	cervix
36	chr12:124485200-124489200	Genic enhancers	Brain Hippocampus Middle	brain
37	chr12:124485600-124490200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr12:124485800-124490200	Weak transcription	Primary B cells from cord blood	blood
39	chr12:124485800-124490200	Strong transcription	Sigmoid Colon	Sigmoid Colon
40	chr12:124486000-124489600	Enhancers	Right Atrium	heart
41	chr12:124486000-124490200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr12:124486000-124496400	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr12:124486200-124491400	Weak transcription	HSMM	muscle
44	chr12:124486400-124496200	Weak transcription	HMEC	breast
45	chr12:124486600-124489600	Weak transcription	Primary hematopoietic stem cells	blood
46	chr12:124486600-124491400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr12:124486800-124490200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr12:124486800-124490200	Weak transcription	Liver	Liver
49	chr12:124486800-124490400	Weak transcription	Monocytes-CD14+_RO01746	blood
50	chr12:124486800-124492600	Weak transcription	Placenta Amnion	Placenta Amnion

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