Variant report

Variant	rs11068845
Chromosome Location	chr12:118576867-118576868
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	CEBPB	chr12:118576483-118576880	HepG2	liver:	n/a	n/a
2	MBD4	chr12:118576394-118576876	HepG2	liver:	n/a	n/a
3	HDAC2	chr12:118576499-118576893	HepG2	liver:	n/a	n/a
4	MYBL2	chr12:118576427-118576920	HepG2	liver:	n/a	n/a
5	MBD4	chr12:118576388-118576920	HepG2	liver:	n/a	n/a
6	FOXA1	chr12:118576437-118576959	HepG2	liver:	n/a	n/a
7	NFIC	chr12:118576489-118576900	HepG2	liver:	n/a	n/a
8	RXRA	chr12:118576450-118576952	HepG2	liver:	n/a	n/a
9	MYBL2	chr12:118576360-118577014	HepG2	liver:	n/a	n/a
10	YY1	chr12:118576612-118576926	HepG2	liver:	n/a	n/a
11	FOXA1	chr12:118576427-118577000	HepG2	liver:	n/a	n/a
12	POLR2A	chr12:118576445-118576867	HepG2	liver:	n/a	n/a
13	NFIC	chr12:118576401-118576868	HepG2	liver:	n/a	n/a
14	EP300	chr12:118576391-118576972	HepG2	liver:	n/a	n/a
15	MAZ	chr12:118576566-118576872	HepG2	liver:	n/a	chr12:118576767-118576777
16	HEY1	chr12:118576437-118576904	HepG2	liver:	n/a	n/a
17	MXI1	chr12:118576509-118577009	HepG2	liver:	n/a	n/a
18	POLR2A	chr12:118576499-118576880	HepG2	liver:	n/a	n/a
19	TCF12	chr12:118576553-118576894	HepG2	liver:	n/a	n/a
20	FOXA1	chr12:118576493-118576883	HepG2	liver:	n/a	n/a
21	MAX	chr12:118576436-118577057	HepG2	liver:	n/a	chr12:118576767-118576777
22	EP300	chr12:118576392-118576980	HepG2	liver:	n/a	n/a
23	SP1	chr12:118576394-118576966	HepG2	liver:	n/a	chr12:118576767-118576777 chr12:118576766-118576778 chr12:118576766-118576778 chr12:118576773-118576782
24	TEAD4	chr12:118576399-118576972	HepG2	liver:	n/a	n/a
25	FOXA2	chr12:118576548-118576886	HepG2	liver:	n/a	n/a
26	FOXA1	chr12:118576527-118576904	HepG2	liver:	n/a	n/a
27	RXRA	chr12:118576353-118577004	HepG2	liver:	n/a	n/a
28	HDAC2	chr12:118576507-118576884	HepG2	liver:	n/a	n/a
29	CEBPD	chr12:118576545-118576894	HepG2	liver:	n/a	n/a
30	FOSL2	chr12:118576452-118576880	HepG2	liver:	n/a	n/a
31	POLR2A	chr12:118576027-118578876	HepG2	liver:	n/a	n/a
32	HNF4A	chr12:118576518-118576884	HepG2	liver:	n/a	chr12:118576737-118576752
33	HNF4G	chr12:118576561-118576953	HepG2	liver:	n/a	chr12:118576738-118576753

Variant related genes	Relation type
VSIG10	TF binding region

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs2293444	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3847651	0.88[AFR][1000 genomes]
rs7977921	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[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	nsv1053785	chr12:118490955-118874194	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1054703	chr12:118575000-118638613	Active TSS Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv541611	chr12:118575000-118638613	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118575000-118577200	Weak transcription	Primary monocytes fromperipheralblood	blood
2	chr12:118575000-118577200	Weak transcription	Fetal Thymus	thymus
3	chr12:118575000-118577400	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr12:118575000-118585200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr12:118575200-118577000	Weak transcription	Fetal Kidney	kidney
6	chr12:118575200-118577200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr12:118575200-118577200	Weak transcription	Primary hematopoietic stem cells	blood
8	chr12:118575200-118577200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr12:118575200-118577200	Weak transcription	Aorta	Aorta
10	chr12:118575200-118577200	Enhancers	Placenta	Placenta
11	chr12:118575200-118577200	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr12:118575200-118577200	Weak transcription	Spleen	Spleen
13	chr12:118575200-118577600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr12:118575200-118579400	Weak transcription	Primary B cells from cord blood	blood
15	chr12:118575200-118585800	Weak transcription	Fetal Heart	heart
16	chr12:118575400-118577000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr12:118575400-118577000	Enhancers	Brain Substantia Nigra	brain
18	chr12:118575400-118577000	Enhancers	Pancreas	Pancrea
19	chr12:118575400-118577000	Weak transcription	Thymus	Thymus
20	chr12:118575400-118577200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr12:118575400-118577200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr12:118575400-118577200	Weak transcription	Primary B cells from peripheral blood	blood
23	chr12:118575400-118577200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr12:118575400-118577200	Enhancers	Brain Hippocampus Middle	brain
25	chr12:118575400-118577200	Weak transcription	Esophagus	oesophagus
26	chr12:118575400-118577200	Weak transcription	Fetal Lung	lung
27	chr12:118575400-118577200	Weak transcription	Psoas Muscle	Psoas
28	chr12:118575400-118577200	Weak transcription	Right Ventricle	heart
29	chr12:118575400-118577200	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr12:118575400-118577200	Weak transcription	HSMMtube	muscle
31	chr12:118575400-118577200	Weak transcription	NH-A	brain
32	chr12:118575400-118577200	Weak transcription	NHDF-Ad	bronchial
33	chr12:118575400-118577200	Weak transcription	NHLF	lung
34	chr12:118575400-118577400	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr12:118575400-118577400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr12:118575400-118577600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr12:118575400-118577600	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr12:118575400-118577800	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr12:118575400-118577800	Genic enhancers	Skeletal Muscle Male	skeletal muscle
40	chr12:118575400-118578200	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
41	chr12:118575400-118584800	Strong transcription	NHEK	skin
42	chr12:118575400-118590400	Strong transcription	Fetal Muscle Trunk	muscle
43	chr12:118575400-118590600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr12:118575400-118590600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr12:118575400-118591400	Strong transcription	Fetal Stomach	stomach
46	chr12:118575600-118577200	Weak transcription	Primary T helper cells PMA-I stimulated	--
47	chr12:118575600-118577200	Genic enhancers	Brain Inferior Temporal Lobe	brain
48	chr12:118575600-118577200	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr12:118575600-118577200	Weak transcription	HMEC	breast
50	chr12:118575600-118577600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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