Variant report

Variant	rs787827
Chromosome Location	chr12:120937794-120937795
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:120937430-120937885	U87	brain:	n/a	n/a
2	POLR2A	chr12:120937421-120938027	PFSK-1	brain:	n/a	n/a
3	POLR2A	chr12:120936217-120937982	PANC-1	pancreas:	n/a	n/a
4	POLR2A	chr12:120937468-120937969	SK-N-SH	brain:	n/a	n/a
5	POLR2A	chr12:120936227-120937836	K562	blood:	n/a	n/a
6	POLR2A	chr12:120937612-120937881	MCF-7	breast:	n/a	n/a
7	POLR2A	chr12:120933282-120938110	SK-N-MC	brain:	n/a	n/a
8	POLR2A	chr12:120937784-120937925	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr12:120936101-120938530	HepG2	liver:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:120932097..120935610-chr12:120935741..120938488,5	MCF-7	breast:
2	chr12:120936621..120939116-chr12:120939943..120941715,2	MCF-7	breast:
3	chr12:120881121..120885738-chr12:120933710..120938677,7	MCF-7	breast:
4	chr12:120936251..120938670-chr12:120977737..120980679,2	K562	blood:
5	chr12:120936942..120938466-chr12:120966216..120968071,2	MCF-7	breast:
6	chr12:120899786..120915162-chr12:120926090..120939394,54	MCF-7	breast:
7	chr12:120936822..120939481-chr12:120942042..120944124,2	K562	blood:
8	chr12:120895908..120898400-chr12:120936308..120939235,2	K562	blood:
9	chr12:120936907..120938548-chr12:120942568..120944463,2	MCF-7	breast:
10	chr12:120932725..120938580-chr12:120938743..120942478,11	MCF-7	breast:

No data

Variant related genes	Relation type
DYNLL1-AS1	TF binding region
ENSG00000110871	Chromatin interaction
ENSG00000170855	Chromatin interaction
ENSG00000222601	Chromatin interaction
ENSG00000248008	Chromatin interaction
ENSG00000088986	Chromatin interaction
ENSG00000257218	Chromatin interaction
ENSG00000111786	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10849755	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1167695	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1167700	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1167703	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1167725	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1167726	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1167727	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12307148	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12310837	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1614223	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1622884	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1671767	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1671770	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17431717	0.94[EUR][1000 genomes]
rs1794748	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1794749	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2235222	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2673618	0.81[EUR][1000 genomes]
rs4347449	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs550876	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs563920	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs567156	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57717256	0.82[ASN][1000 genomes]
rs580016	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs588132	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs591992	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs614226	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs616157	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61945858	0.89[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs61945873	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs640350	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7137953	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7174	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73405622	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs787824	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs787832	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7956998	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7963543	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7972244	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9668213	0.85[ASN][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs787827	POP5	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120935200-120938800	Weak transcription	Lung	lung
2	chr12:120935200-120941200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:120935200-120951400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr12:120935200-120966200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr12:120935400-120937800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr12:120935400-120945800	Weak transcription	Pancreas	Pancrea
7	chr12:120935600-120941200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr12:120935600-120966200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr12:120935800-120938600	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr12:120935800-120939000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr12:120935800-120939000	Weak transcription	Small Intestine	intestine
12	chr12:120935800-120940800	Weak transcription	Ovary	ovary
13	chr12:120935800-120941200	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr12:120935800-120941200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr12:120935800-120941200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr12:120935800-120941400	Weak transcription	Gastric	stomach
17	chr12:120935800-120947000	Weak transcription	Aorta	Aorta
18	chr12:120935800-120951800	Weak transcription	Esophagus	oesophagus
19	chr12:120935800-120953400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr12:120936000-120938200	Strong transcription	Fetal Thymus	thymus
21	chr12:120936000-120938800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr12:120936000-120939200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr12:120936000-120939600	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr12:120936000-120940400	Weak transcription	Primary B cells from peripheral blood	blood
25	chr12:120936000-120941400	Weak transcription	Spleen	Spleen
26	chr12:120936000-120943200	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr12:120936000-120943400	Strong transcription	Placenta	Placenta
28	chr12:120936000-120944200	Strong transcription	Left Ventricle	heart
29	chr12:120936000-120944800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr12:120936000-120947000	Weak transcription	Colonic Mucosa	Colon
31	chr12:120936000-120947200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr12:120936000-120955200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr12:120936000-120964200	Strong transcription	Fetal Muscle Trunk	muscle
34	chr12:120936200-120939000	Strong transcription	Primary T helper cells fromperipheralblood	blood
35	chr12:120936200-120941600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr12:120936400-120938600	Weak transcription	Primary hematopoietic stem cells	blood
37	chr12:120936400-120939400	Strong transcription	Brain Substantia Nigra	brain
38	chr12:120936400-120940800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr12:120936400-120941200	Weak transcription	GM12878-XiMat	blood
40	chr12:120936400-120942000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr12:120936400-120963800	Weak transcription	Hela-S3	cervix
42	chr12:120936400-120966000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr12:120936400-120966200	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr12:120936600-120938400	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr12:120936600-120938600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr12:120936600-120938600	Strong transcription	Brain Inferior Temporal Lobe	brain
47	chr12:120936600-120941800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr12:120936600-120949600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
49	chr12:120936600-120954800	Strong transcription	Adipose Nuclei	Adipose
50	chr12:120936800-120938200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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