Variant report

Variant	rs12311848
Chromosome Location	chr12:124486851-124486852
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:124479273..124483695-chr12:124485266..124489724,5	K562	blood:
2	chr12:124485640..124488869-chr12:124491698..124495418,5	K562	blood:
3	chr12:124476601..124479063-chr12:124485956..124487625,2	K562	blood:

Variant related genes	Relation type
ENSG00000179195	Chromatin interaction

Extended variants
information (count: 98 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs1054852	0.94[ASN][1000 genomes]
rs10846579	0.93[EUR][1000 genomes]
rs10846580	0.95[EUR][1000 genomes]
rs11057393	0.90[EUR][1000 genomes]
rs11057394	0.93[EUR][1000 genomes]
rs11057396	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11057397	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11057399	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11057400	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11057401	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11057407	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11057408	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11057409	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11057412	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11057413	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11831913	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11833002	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11835839	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11837287	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1187415	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12296259	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12298484	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12301673	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12303671	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12303933	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12310367	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12311114	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12316080	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12317176	0.91[EUR][1000 genomes]
rs12809125	0.93[EUR][1000 genomes]
rs12809473	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12823740	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12824567	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12827409	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12829951	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12833624	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1882491	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2130382	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2178663	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3186071	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34102591	0.98[ASN][1000 genomes]
rs34114498	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34180676	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34854841	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34878139	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35099862	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35825716	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3789967	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3802999	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4405410	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4575361	0.86[EUR][1000 genomes]
rs4765127	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4765148	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4765219	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4765305	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4765335	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4765528	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4765541	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4765562	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4765568	0.98[ASN][1000 genomes]
rs4930721	0.88[EUR][1000 genomes]
rs4930722	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4930723	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4930724	0.90[EUR][1000 genomes]
rs4930725	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4930726	0.96[EUR][1000 genomes]
rs55990776	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs56041971	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6488912	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6488913	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6488914	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7131882	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7132655	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7133378	0.83[EUR][1000 genomes]
rs7134121	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7135314	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71458830	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7301953	0.85[EUR][1000 genomes]
rs7305864	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7307053	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7307277	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7311233	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7311969	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7312404	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7955815	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7958691	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7961449	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7966192	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7973683	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7975482	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7978610	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs952632	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9863	0.83[EUR][1000 genomes]
rs9971695	0.94[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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12311848	RP11-380L11.4	cis	Esophagus Muscularis	GTEx
rs12311848	CCDC92	cis	Heart Left Ventricle	GTEx

Chromatin state (count:121 , 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	chr12:124475400-124488600	Weak transcription	Psoas Muscle	Psoas
6	chr12:124476200-124492400	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr12:124478000-124490200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr12:124478200-124489400	Enhancers	Fetal Heart	heart
9	chr12:124478600-124488200	Weak transcription	Colon Smooth Muscle	Colon
10	chr12:124478600-124490200	Strong transcription	HepG2	liver
11	chr12:124479400-124493400	Strong transcription	Dnd41	blood
12	chr12:124479800-124488400	Strong transcription	Duodenum Mucosa	Duodenum
13	chr12:124479800-124493000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr12:124480200-124489000	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr12:124480400-124489200	Strong transcription	Fetal Muscle Trunk	muscle
16	chr12:124480600-124487200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr12:124480600-124496200	Weak transcription	Small Intestine	intestine
18	chr12:124481000-124489000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr12:124481000-124490200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr12:124481200-124488400	Weak transcription	Fetal Brain Male	brain
21	chr12:124481200-124492400	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr12:124481400-124488200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr12:124481600-124489400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr12:124481600-124492800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr12:124482000-124488200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr12:124482000-124488400	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr12:124482000-124488400	Strong transcription	Brain Germinal Matrix	brain
28	chr12:124482000-124489200	Strong transcription	Primary B cells from peripheral blood	blood
29	chr12:124482000-124489400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr12:124482200-124490200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr12:124482200-124490600	Genic enhancers	Fetal Thymus	thymus
32	chr12:124482600-124488400	Strong transcription	Stomach Smooth Muscle	stomach
33	chr12:124482800-124489800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr12:124482800-124490200	Strong transcription	Fetal Brain Female	brain
35	chr12:124483200-124492400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr12:124483400-124488400	Weak transcription	Primary T cells from cord blood	blood
37	chr12:124483600-124490200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr12:124483600-124491600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr12:124483600-124494800	Weak transcription	HUVEC	blood vessel
40	chr12:124483600-124495000	Weak transcription	NH-A	brain
41	chr12:124483800-124488600	Strong transcription	Fetal Muscle Leg	muscle
42	chr12:124483800-124489800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr12:124483800-124490200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr12:124483800-124493000	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr12:124484000-124487000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr12:124484000-124487000	Strong transcription	Osteobl	bone
47	chr12:124484000-124487200	Genic enhancers	K562	blood
48	chr12:124484000-124488400	Weak transcription	NHDF-Ad	bronchial
49	chr12:124484200-124487200	Genic enhancers	Fetal Intestine Large	intestine
50	chr12:124484400-124487200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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