Variant report

Variant	rs73126453
Chromosome Location	chr12:42851318-42851319
allele	C/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	CTCF	chr12:42851200-42851350	HPAF	blood vessel:	n/a	n/a
2	CTCF	chr12:42851240-42851390	SK-N-SH_RA	brain:	n/a	n/a
3	POLR2A	chr12:42851304-42851526	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr12:42851143-42851979	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
ENSG00000257225	TF binding region

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs1037401	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1139095	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17091061	0.95[AMR][1000 genomes]
rs17091083	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17091094	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17091117	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs17091138	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17091141	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17091163	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17091193	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17091220	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17091226	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17121217	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1962526	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2305423	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2406676	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2406677	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3747559	0.90[AMR][1000 genomes]
rs3911246	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs57447201	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs58594062	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs59423833	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs59501472	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs60092940	0.95[AMR][1000 genomes]
rs60598518	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs60659836	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs67128387	0.95[EUR][1000 genomes]
rs67217830	0.90[EUR][1000 genomes]
rs73116492	0.95[AMR][1000 genomes]
rs73118486	0.95[AMR][1000 genomes]
rs73118500	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73120476	0.95[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs73120499	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73124406	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73124495	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73126404	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73126407	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73126412	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73126433	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[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	nsv1044790	chr12:42672255-43344184	Enhancers Bivalent Enhancer Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
2	nsv541483	chr12:42672255-43344184	Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
3	nsv983461	chr12:42851064-42854179	Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42816200-42858200	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr12:42816800-42862400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr12:42820000-42858200	Weak transcription	Gastric	stomach
4	chr12:42820200-42853000	Weak transcription	Fetal Heart	heart
5	chr12:42826400-42859000	Weak transcription	Fetal Brain Male	brain
6	chr12:42826600-42858200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:42831800-42876400	Weak transcription	Psoas Muscle	Psoas
8	chr12:42834200-42859600	Weak transcription	Brain Substantia Nigra	brain
9	chr12:42836000-42875800	Weak transcription	Stomach Mucosa	stomach
10	chr12:42836600-42853000	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr12:42836800-42853000	Weak transcription	Right Ventricle	heart
12	chr12:42836800-42858800	Weak transcription	Brain Angular Gyrus	brain
13	chr12:42837000-42853200	Weak transcription	NHEK	skin
14	chr12:42837000-42853800	Weak transcription	Lung	lung
15	chr12:42837000-42858000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr12:42837000-42858000	Weak transcription	Aorta	Aorta
17	chr12:42837000-42858200	Weak transcription	Rectal Smooth Muscle	rectum
18	chr12:42837000-42868800	Weak transcription	Esophagus	oesophagus
19	chr12:42837200-42863200	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr12:42838400-42858000	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr12:42838600-42853200	Weak transcription	Brain Anterior Caudate	brain
22	chr12:42839800-42853000	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr12:42840000-42856400	Weak transcription	Fetal Intestine Small	intestine
24	chr12:42840400-42860800	Weak transcription	Colonic Mucosa	Colon
25	chr12:42840600-42852800	Weak transcription	Adipose Nuclei	Adipose
26	chr12:42840600-42858000	Weak transcription	Placenta	Placenta
27	chr12:42840600-42860000	Weak transcription	Brain Cingulate Gyrus	brain
28	chr12:42840800-42853200	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr12:42840800-42853200	Weak transcription	Fetal Kidney	kidney
30	chr12:42840800-42858200	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr12:42841000-42853000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr12:42841000-42853000	Weak transcription	Spleen	Spleen
33	chr12:42841000-42853600	Weak transcription	Colon Smooth Muscle	Colon
34	chr12:42841000-42858600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr12:42841200-42851800	Weak transcription	HMEC	breast
36	chr12:42841400-42856400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr12:42841400-42862000	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr12:42841600-42858400	Weak transcription	Fetal Brain Female	brain
39	chr12:42841600-42862400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr12:42843000-42851400	Weak transcription	HSMM	muscle
41	chr12:42843000-42853000	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr12:42843000-42853200	Weak transcription	Duodenum Mucosa	Duodenum
43	chr12:42843000-42862400	Weak transcription	Fetal Thymus	thymus
44	chr12:42843200-42853200	Weak transcription	Ovary	ovary
45	chr12:42843200-42858200	Weak transcription	Primary monocytes fromperipheralblood	blood
46	chr12:42843200-42858200	Weak transcription	Pancreas	Pancrea
47	chr12:42843200-42862000	Weak transcription	Brain Hippocampus Middle	brain
48	chr12:42843600-42853000	Weak transcription	Stomach Smooth Muscle	stomach
49	chr12:42843600-42862400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr12:42844000-42853000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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