Variant report

Variant	rs3889761
Chromosome Location	chr12:30793055-30793056
allele	A/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	CEBPB	chr12:30793009-30793294	HepG2	liver:	n/a	n/a
2	CEBPB	chr12:30792954-30793297	IMR90	lung:	n/a	n/a
3	CEBPB	chr12:30793042-30793264	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:30787506..30790703-chr12:30791506..30796322,4	K562	blood:

Variant related genes	Relation type
IPO8	TF binding region
ENSG00000133704	Chromatin interaction

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs10431223	1.00[EUR][1000 genomes]
rs11050960	1.00[EUR][1000 genomes]
rs11050962	1.00[EUR][1000 genomes]
rs11050963	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11050964	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11050965	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11050974	0.82[ASN][1000 genomes]
rs11050975	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11050976	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11050978	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11050979	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11050980	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11050981	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11050982	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11050995	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11050996	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11050997	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11050998	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11050999	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11051000	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11051001	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11051004	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11051011	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11051014	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11051016	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11051017	0.92[ASN][1000 genomes]
rs11051021	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11051024	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11051025	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11051031	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11051032	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11051036	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11051039	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11051040	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11051043	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11051057	1.00[AMR][1000 genomes]
rs11051060	1.00[AMR][1000 genomes]
rs11051064	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11051067	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11051074	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11531057	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11534760	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11561156	1.00[EUR][1000 genomes]
rs1157125	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12228212	1.00[EUR][1000 genomes]
rs12229358	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12229986	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12230006	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12230490	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12231670	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16906574	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16906582	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16906596	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16906601	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16906606	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16906713	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16906758	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs16916147	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2101288	1.00[AMR][1000 genomes]
rs2114900	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3850958	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3850959	0.91[ASN][1000 genomes]
rs3898255	0.92[EUR][1000 genomes]
rs57735299	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60712960	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7970293	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7977562	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3343291	chr12:30455597-30992837	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30767000-30844200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:30771000-30812200	Weak transcription	Aorta	Aorta
3	chr12:30771200-30804200	Weak transcription	Fetal Brain Male	brain
4	chr12:30774600-30812000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr12:30775600-30815400	Weak transcription	Right Ventricle	heart
6	chr12:30775800-30813200	Weak transcription	HMEC	breast
7	chr12:30775800-30815200	Weak transcription	NHEK	skin
8	chr12:30776000-30808400	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr12:30779200-30812200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr12:30779400-30796400	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr12:30779800-30825000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr12:30780200-30795000	Weak transcription	Fetal Intestine Small	intestine
13	chr12:30780400-30796200	Weak transcription	Hela-S3	cervix
14	chr12:30780800-30793200	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr12:30780800-30793200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr12:30780800-30847000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr12:30781200-30793200	Strong transcription	Dnd41	blood
18	chr12:30781200-30797600	Strong transcription	Primary B cells from cord blood	blood
19	chr12:30781200-30806600	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr12:30781400-30793200	Strong transcription	Primary T cells fromperipheralblood	blood
21	chr12:30781600-30793200	Strong transcription	Primary T helper cells fromperipheralblood	blood
22	chr12:30781800-30796200	Weak transcription	NHLF	lung
23	chr12:30781800-30826400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr12:30782200-30793600	Strong transcription	Primary T helper cells PMA-I stimulated	--
25	chr12:30782400-30814800	Weak transcription	Brain Angular Gyrus	brain
26	chr12:30782400-30821200	Weak transcription	Esophagus	oesophagus
27	chr12:30783800-30798400	Weak transcription	HepG2	liver
28	chr12:30783800-30827400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr12:30783800-30829000	Weak transcription	Small Intestine	intestine
30	chr12:30784000-30803400	Weak transcription	HSMMtube	muscle
31	chr12:30784000-30815800	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr12:30784600-30803400	Weak transcription	K562	blood
33	chr12:30784800-30836600	Weak transcription	Fetal Heart	heart
34	chr12:30785000-30796000	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr12:30785000-30800800	Weak transcription	Brain Germinal Matrix	brain
36	chr12:30785000-30847800	Weak transcription	Gastric	stomach
37	chr12:30785200-30796200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr12:30785200-30796600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr12:30785200-30846400	Weak transcription	Spleen	Spleen
40	chr12:30785400-30847200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr12:30785800-30809000	Weak transcription	Pancreas	Pancrea
42	chr12:30785800-30813200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr12:30786000-30794000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr12:30786000-30813000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr12:30786000-30826600	Weak transcription	Colonic Mucosa	Colon
46	chr12:30786800-30808400	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr12:30787200-30801200	Weak transcription	NH-A	brain
48	chr12:30787200-30802000	Weak transcription	NHDF-Ad	bronchial
49	chr12:30787200-30805200	Weak transcription	GM12878-XiMat	blood
50	chr12:30787200-30813000	Weak transcription	Ovary	ovary

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