Variant report

Variant	rs11057210
Chromosome Location	chr12:123733799-123733800
allele	A/G
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	EGR1	chr12:123733740-123733927	K562	blood:	n/a	n/a
2	POLR2A	chr12:123733796-123734159	A549	lung:	n/a	n/a
3	MAFK	chr12:123733552-123733855	HepG2	liver:	n/a	chr12:123733676-123733691 chr12:123733717-123733732
4	MAFF	chr12:123733353-123733912	HepG2	liver:	n/a	chr12:123733715-123733733
5	MAFK	chr12:123733545-123733904	IMR90	lung:	n/a	chr12:123733676-123733691 chr12:123733717-123733732
6	POLR2A	chr12:123733767-123734394	A549	lung:	n/a	n/a
7	POLR2A	chr12:123733783-123734087	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr12:123733774-123734012	HepG2	liver:	n/a	n/a
9	MAFK	chr12:123733327-123733879	HepG2	liver:	n/a	chr12:123733676-123733691 chr12:123733717-123733732
10	POLR2A	chr12:123733595-123734486	SK-N-MC	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:123733760..123735468-chr12:123740461..123742402,2	K562	blood:
2	chr12:123715816..123718191-chr12:123733182..123735641,3	K562	blood:

Variant related genes	Relation type
C12orf65	TF binding region
ENSG00000051825	Chromatin interaction
ENSG00000130921	Chromatin interaction

Extended variants
information (count: 142 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:138)

rs_ID	r²[population]
rs1047158	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1051431	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10744148	0.83[AMR][1000 genomes]
rs10744149	0.94[AMR][1000 genomes]
rs10744151	0.82[EUR][1000 genomes]
rs10772993	0.81[EUR][1000 genomes]
rs10772995	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10772996	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs10772997	0.80[EUR][1000 genomes]
rs10772998	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10772999	0.81[EUR][1000 genomes]
rs10773001	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10846478	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10846486	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10846487	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10846491	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11057192	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11057202	0.81[EUR][1000 genomes]
rs11057204	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11057205	0.81[EUR][1000 genomes]
rs11057206	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11057207	0.82[EUR][1000 genomes]
rs11057209	0.83[EUR][1000 genomes]
rs1106241	0.82[EUR][1000 genomes]
rs12817892	0.95[EUR][1000 genomes]
rs12818067	0.95[EUR][1000 genomes]
rs12824957	0.86[EUR][1000 genomes]
rs12829456	0.95[EUR][1000 genomes]
rs1402274	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1402275	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1533703	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1569068	0.81[EUR][1000 genomes]
rs1609520	0.82[EUR][1000 genomes]
rs1615694	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1616131	0.81[EUR][1000 genomes]
rs1616181	0.81[EUR][1000 genomes]
rs1617434	0.82[EUR][1000 genomes]
rs1618679	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1621194	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1626899	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1627724	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1630693	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1630905	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1716156	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1716157	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1716158	0.86[AMR][1000 genomes]
rs1716159	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1716160	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1716164	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1716165	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1716167	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1716168	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1716170	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1716171	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1716172	0.99[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1716173	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1716175	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1716176	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1716177	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1716182	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1716185	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1727290	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1727294	0.81[EUR][1000 genomes]
rs1727296	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1727300	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1727306	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1727309	0.83[EUR][1000 genomes]
rs1727310	0.83[EUR][1000 genomes]
rs1727314	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1727315	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1727316	0.81[EUR][1000 genomes]
rs1727320	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1727322	0.82[EUR][1000 genomes]
rs1727323	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1727324	0.86[EUR][1000 genomes]
rs1727325	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1727332	0.81[EUR][1000 genomes]
rs1727334	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1790086	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1790087	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1790089	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1790090	0.83[EUR][1000 genomes]
rs1790095	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1790098	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1790100	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1790101	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1790102	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1790108	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1790109	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1790116	0.81[EUR][1000 genomes]
rs1790123	0.83[EUR][1000 genomes]
rs1790124	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1790125	0.88[AMR][1000 genomes]
rs1790130	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1790131	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1879380	0.89[EUR][1000 genomes]
rs1969354	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1980252	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2049114	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2337934	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2682426	0.80[AMR][1000 genomes]
rs2682429	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2682430	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2682431	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2682433	0.87[EUR][1000 genomes]
rs2682434	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2695476	0.87[EUR][1000 genomes]
rs2695478	0.85[EUR][1000 genomes]
rs2695479	0.83[EUR][1000 genomes]
rs2695480	0.85[EUR][1000 genomes]
rs2695481	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2695482	0.82[EUR][1000 genomes]
rs2851435	0.87[EUR][1000 genomes]
rs2851436	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2851438	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2851450	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2851451	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2947099	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2950537	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3018098	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34341465	0.95[EUR][1000 genomes]
rs4268544	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4372492	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4759371	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4759409	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4759415	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4759416	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4759417	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs58809476	0.95[EUR][1000 genomes]
rs6633	0.87[EUR][1000 genomes]
rs7137286	0.82[EUR][1000 genomes]
rs7313483	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7953929	0.82[EUR][1000 genomes]
rs884548	0.83[EUR][1000 genomes]
rs941305	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs941306	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs949142	0.83[EUR][1000 genomes]
rs9795522	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[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	esv1825473	chr12:123582855-123822503	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv1803368	chr12:123640853-123822503	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS ZNF genes & repeats 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	70 gene(s)	inside rSNPs	diseases
3	esv1830566	chr12:123640853-123822503	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
4	esv1836043	chr12:123709409-123822503	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs11057210	ARL6IP4	Cis_1M	lymphoblastoid	RTeQTL
rs11057210	CDK2AP1	Cis_1M	lymphoblastoid	RTeQTL
rs11057210	SBNO1	Cis_1M	lymphoblastoid	RTeQTL
rs11057210	CDK2AP1	cis	Esophagus Mucosa	GTEx
rs11057210	MPHOSPH9	Cis_1M	lymphoblastoid	RTeQTL
rs11057210	RP11-282O18.3	cis	Esophagus Mucosa	GTEx
rs11057210	LOC283378	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123718800-123733800	Weak transcription	Aorta	Aorta
2	chr12:123718800-123739600	Weak transcription	Fetal Kidney	kidney
3	chr12:123719000-123735000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr12:123719200-123735200	Weak transcription	Ovary	ovary
5	chr12:123719600-123734200	Weak transcription	Colonic Mucosa	Colon
6	chr12:123719600-123738400	Weak transcription	NH-A	brain
7	chr12:123719800-123733800	Weak transcription	Fetal Intestine Large	intestine
8	chr12:123720000-123736000	Weak transcription	Gastric	stomach
9	chr12:123720000-123738000	Weak transcription	Small Intestine	intestine
10	chr12:123720200-123735200	Weak transcription	Pancreas	Pancrea
11	chr12:123721000-123733800	Weak transcription	Lung	lung
12	chr12:123721600-123735200	Weak transcription	Stomach Smooth Muscle	stomach
13	chr12:123723400-123735000	Weak transcription	Stomach Mucosa	stomach
14	chr12:123724600-123735200	Weak transcription	Placenta	Placenta
15	chr12:123725200-123738000	Weak transcription	HSMM	muscle
16	chr12:123725800-123746400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr12:123726600-123735200	Weak transcription	Fetal Muscle Trunk	muscle
18	chr12:123727000-123735000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr12:123727200-123735000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr12:123727200-123735000	Weak transcription	Brain Hippocampus Middle	brain
21	chr12:123727200-123735000	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr12:123727200-123735200	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr12:123727400-123733800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr12:123727400-123734800	Weak transcription	Hela-S3	cervix
25	chr12:123727400-123735000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr12:123727400-123735000	Weak transcription	Brain Anterior Caudate	brain
27	chr12:123727400-123735000	Weak transcription	Brain Substantia Nigra	brain
28	chr12:123727400-123735000	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr12:123727400-123735200	Weak transcription	Primary hematopoietic stem cells	blood
30	chr12:123727400-123735200	Weak transcription	Brain Angular Gyrus	brain
31	chr12:123727400-123735200	Weak transcription	Duodenum Mucosa	Duodenum
32	chr12:123727400-123735200	Weak transcription	Fetal Brain Male	brain
33	chr12:123727400-123735400	Weak transcription	Right Atrium	heart
34	chr12:123727400-123736000	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr12:123727400-123738000	Weak transcription	NHDF-Ad	bronchial
36	chr12:123727400-123738200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr12:123727600-123735000	Weak transcription	Left Ventricle	heart
38	chr12:123727600-123735000	Weak transcription	HepG2	liver
39	chr12:123727600-123735200	Weak transcription	Adipose Nuclei	Adipose
40	chr12:123727600-123735200	Weak transcription	Brain Cingulate Gyrus	brain
41	chr12:123727600-123735200	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr12:123727600-123736400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr12:123727600-123738000	Weak transcription	Rectal Smooth Muscle	rectum
44	chr12:123727600-123738000	Weak transcription	HUVEC	blood vessel
45	chr12:123727600-123739200	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr12:123727800-123734200	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr12:123727800-123735400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr12:123727800-123738200	Weak transcription	Fetal Heart	heart
49	chr12:123728000-123735000	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr12:123728400-123735200	Weak transcription	Colon Smooth Muscle	Colon

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