Variant report

Variant	rs11168792
Chromosome Location	chr12:49320728-49320729
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:49320655-49321126	SK-N-MC	brain:	n/a	n/a
2	MAFK	chr12:49320716-49321425	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:49319039..49321186-chr12:49348048..49350961,2	MCF-7	breast:

Variant related genes	Relation type
FKBP11	TF binding region
ENSG00000134287	Chromatin interaction

Extended variants
information (count: 123 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:120)

rs_ID	r²[population]
rs1051886	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1054376	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10747556	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10747557	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10747558	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10783289	0.94[ASN][1000 genomes]
rs10783290	0.92[ASN][1000 genomes]
rs10783292	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10783293	0.83[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs10783294	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10783295	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10783297	0.94[ASN][1000 genomes]
rs10875886	0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs10875888	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10875893	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10875894	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10875895	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10875896	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10875897	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10875898	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10875899	0.80[ASN][1000 genomes]
rs10875900	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10875901	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10875902	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1111662	0.94[ASN][1000 genomes]
rs11168779	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11168783	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11168784	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11168785	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11168790	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11168794	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168795	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11168797	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11168798	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11168800	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11168801	0.87[ASN][1000 genomes]
rs11168803	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11168811	0.82[ASN][1000 genomes]
rs11168812	0.87[AFR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11608916	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11610459	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11610497	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11614474	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12227240	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12228521	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12229275	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12423542	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12579249	0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs1318692	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1690182	0.92[ASN][1000 genomes]
rs1818996	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1830192	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2030900	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2070940	0.92[ASN][1000 genomes]
rs2073480	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2131713	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2272311	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2272312	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2293449	0.97[ASN][1000 genomes]
rs2368701	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2453063	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2463175	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2641450	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2694839	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2694840	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3741627	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3759146	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3782353	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3809147	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3825182	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3825184	0.97[ASN][1000 genomes]
rs4018510	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4237854	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4433614	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4526804	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4760600	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4760647	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4760661	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4760662	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4760663	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4760664	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4760665	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4760666	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4760667	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4760668	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58023472	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59087236	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61941142	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61942166	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61942167	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61942169	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61942207	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61942209	0.83[ASN][1000 genomes]
rs6580696	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7134686	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7297958	0.84[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7298330	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7304942	0.98[ASN][1000 genomes]
rs7313988	0.92[ASN][1000 genomes]
rs7489036	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7963018	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7963160	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7976473	0.88[ASN][1000 genomes]
rs833820	0.92[ASN][1000 genomes]
rs833821	0.92[ASN][1000 genomes]
rs833822	0.92[ASN][1000 genomes]
rs833827	0.92[ASN][1000 genomes]
rs833828	0.90[ASN][1000 genomes]
rs833839	0.86[ASN][1000 genomes]
rs833840	0.86[ASN][1000 genomes]
rs833841	0.85[ASN][1000 genomes]
rs833842	0.85[ASN][1000 genomes]
rs833843	0.82[ASN][1000 genomes]
rs961320	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9645813	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9783452	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9783477	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9788029	0.98[ASN][1000 genomes]
rs9795742	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9796008	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[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	nsv832404	chr12:49258560-49458555	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv1051161	chr12:49314550-49828473	Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
3	nsv541489	chr12:49314550-49828473	Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11168792	RP11-302B13.1	cis	Whole Blood	GTEx

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49314400-49338000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr12:49314400-49338600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:49315800-49321000	Weak transcription	K562	blood
4	chr12:49319200-49349800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr12:49319400-49325200	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr12:49319400-49337800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr12:49319600-49320800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr12:49319600-49321000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr12:49319600-49323200	Weak transcription	Brain Germinal Matrix	brain
10	chr12:49319600-49324400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:49319600-49326600	Weak transcription	Aorta	Aorta
12	chr12:49319600-49331800	Weak transcription	Psoas Muscle	Psoas
13	chr12:49319600-49332800	Weak transcription	Small Intestine	intestine
14	chr12:49319600-49334600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr12:49319800-49320800	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr12:49319800-49320800	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr12:49319800-49320800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr12:49319800-49320800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
19	chr12:49319800-49320800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr12:49319800-49320800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr12:49319800-49320800	Weak transcription	A549	lung
22	chr12:49319800-49320800	Weak transcription	NHLF	lung
23	chr12:49319800-49321000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr12:49319800-49321000	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr12:49319800-49321000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr12:49319800-49321000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr12:49319800-49321000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr12:49319800-49321000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr12:49319800-49321000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr12:49319800-49321000	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr12:49319800-49321000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr12:49319800-49321000	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr12:49319800-49321000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr12:49319800-49321000	Weak transcription	Fetal Stomach	stomach
35	chr12:49319800-49321000	Weak transcription	Stomach Mucosa	stomach
36	chr12:49319800-49321000	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr12:49319800-49321200	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr12:49319800-49321200	Strong transcription	Stomach Smooth Muscle	stomach
39	chr12:49319800-49321400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr12:49319800-49321400	Weak transcription	Placenta	Placenta
41	chr12:49319800-49321600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr12:49319800-49321600	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr12:49319800-49321800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
44	chr12:49319800-49321800	Weak transcription	Fetal Intestine Small	intestine
45	chr12:49319800-49322800	Weak transcription	Primary neutrophils fromperipheralblood	blood
46	chr12:49319800-49322800	Weak transcription	Esophagus	oesophagus
47	chr12:49319800-49322800	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr12:49319800-49323000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr12:49319800-49323000	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr12:49319800-49323000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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