Variant report

Variant	rs4767890
Chromosome Location	chr12:120826805-120826806
allele	C/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	ZNF143	chr12:120826666-120827484	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr12:120826622-120827074	H1-hESC	embryonic stem cell:	n/a	n/a
3	TCF12	chr12:120826670-120826933	H1-hESC	embryonic stem cell:	n/a	n/a
4	MXI1	chr12:120826441-120827156	H1-hESC	embryonic stem cell:	n/a	n/a
5	YY1	chr12:120826390-120827129	H1-hESC	embryonic stem cell:	n/a	chr12:120826471-120826490 chr12:120826575-120826597 chr12:120826587-120826597
6	TAF7	chr12:120826609-120827041	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr12:120826635-120827112	H1-hESC	embryonic stem cell:	n/a	n/a
8	USF1	chr12:120826405-120827321	H1-hESC	embryonic stem cell:	n/a	chr12:120826557-120826573 chr12:120826816-120826829 chr12:120826812-120826833 chr12:120826817-120826828 chr12:120826818-120826827 chr12:120826818-120826827
9	MYC	chr12:120826412-120827279	H1-hESC	embryonic stem cell:	n/a	chr12:120827044-120827055 chr12:120826816-120826829 chr12:120826816-120826829 chr12:120826818-120826827 chr12:120827044-120827053 chr12:120827045-120827052 chr12:120826816-120826829 chr12:120826819-120826828 chr12:120827040-120827059 chr12:120826818-120826827 chr12:120827045-120827054
10	USF1	chr12:120826727-120826899	HepG2	liver:	n/a	chr12:120826816-120826829 chr12:120826812-120826833 chr12:120826817-120826828 chr12:120826818-120826827 chr12:120826818-120826827
11	USF1	chr12:120826675-120826952	A549	lung:	n/a	chr12:120826816-120826829 chr12:120826812-120826833 chr12:120826817-120826828 chr12:120826818-120826827 chr12:120826818-120826827
12	TCF12	chr12:120826714-120826986	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr12:120826466-120827636	H1-hESC	embryonic stem cell:	n/a	n/a
14	CTBP2	chr12:120826450-120827220	H1-hESC	embryonic stem cell:	n/a	n/a
15	MAX	chr12:120826366-120827228	H1-hESC	embryonic stem cell:	n/a	chr12:120827044-120827055 chr12:120826816-120826829 chr12:120826816-120826829 chr12:120826818-120826827 chr12:120827044-120827053 chr12:120827045-120827052 chr12:120826816-120826829 chr12:120826819-120826828 chr12:120827040-120827059 chr12:120826818-120826827 chr12:120827045-120827054
16	JUND	chr12:120826729-120826963	H1-hESC	embryonic stem cell:	n/a	n/a
17	USF1	chr12:120826641-120827075	A549	lung:	n/a	chr12:120826816-120826829 chr12:120826812-120826833 chr12:120826817-120826828 chr12:120826818-120826827 chr12:120826818-120826827
18	SP4	chr12:120826498-120827182	H1-hESC	embryonic stem cell:	n/a	chr12:120827102-120827113
19	ATF2	chr12:120826466-120827186	H1-hESC	embryonic stem cell:	n/a	n/a
20	SP1	chr12:120826735-120827415	H1-hESC	embryonic stem cell:	n/a	chr12:120827253-120827262 chr12:120826948-120826962 chr12:120827253-120827263 chr12:120827102-120827113 chr12:120827252-120827264 chr12:120827252-120827264 chr12:120827253-120827263 chr12:120827254-120827263
21	TBP	chr12:120826719-120827177	H1-hESC	embryonic stem cell:	n/a	n/a
22	USF2	chr12:120826400-120827232	H1-hESC	embryonic stem cell:	n/a	chr12:120826557-120826573 chr12:120826816-120826829 chr12:120826812-120826833 chr12:120826818-120826827 chr12:120826818-120826827 chr12:120827044-120827055
23	TAF1	chr12:120826684-120827107	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr12:120826601-120827023	H1-hESC	embryonic stem cell:	n/a	n/a
25	USF1	chr12:120826578-120827076	K562	blood:	n/a	chr12:120826816-120826829 chr12:120826812-120826833 chr12:120826817-120826828 chr12:120826818-120826827 chr12:120826818-120826827
26	GTF2F1	chr12:120826742-120827574	H1-hESC	embryonic stem cell:	n/a	n/a
27	USF1	chr12:120826599-120826998	A549	lung:	n/a	chr12:120826816-120826829 chr12:120826812-120826833 chr12:120826817-120826828 chr12:120826818-120826827 chr12:120826818-120826827
28	BHLHE40	chr12:120826684-120827122	K562	blood:	n/a	chr12:120826816-120826829 chr12:120826812-120826833 chr12:120826818-120826827 chr12:120826818-120826827
29	ATF3	chr12:120826531-120826942	H1-hESC	embryonic stem cell:	n/a	chr12:120826818-120826827
30	USF1	chr12:120826682-120827236	ECC-1	luminal epithelium:	n/a	chr12:120826816-120826829 chr12:120826812-120826833 chr12:120826817-120826828 chr12:120826818-120826827 chr12:120826818-120826827
31	USF2	chr12:120826649-120827011	HepG2	liver:	n/a	chr12:120826816-120826829 chr12:120826812-120826833 chr12:120826818-120826827 chr12:120826818-120826827
32	ATF2	chr12:120826388-120827223	H1-hESC	embryonic stem cell:	n/a	n/a
33	ATF3	chr12:120826602-120826926	H1-hESC	embryonic stem cell:	n/a	chr12:120826818-120826827
34	YY1	chr12:120826329-120827548	H1-hESC	embryonic stem cell:	n/a	chr12:120826471-120826490 chr12:120826575-120826597 chr12:120826587-120826597
35	TAF1	chr12:120826600-120827199	H1-hESC	embryonic stem cell:	n/a	n/a
36	RXRA	chr12:120826704-120826961	H1-hESC	embryonic stem cell:	n/a	n/a
37	E2F6	chr12:120826138-120827352	H1-hESC	embryonic stem cell:	n/a	n/a
38	MAX	chr12:120826244-120827535	H1-hESC	embryonic stem cell:	n/a	chr12:120827044-120827055 chr12:120826816-120826829 chr12:120826816-120826829 chr12:120826818-120826827 chr12:120827044-120827053 chr12:120827045-120827052 chr12:120826816-120826829 chr12:120826819-120826828 chr12:120827040-120827059 chr12:120826818-120826827 chr12:120827045-120827054
39	RAD21	chr12:120826550-120827486	H1-hESC	embryonic stem cell:	n/a	chr12:120827342-120827355 chr12:120827343-120827353 chr12:120826628-120826647 chr12:120826557-120826570
40	SIN3A	chr12:120826462-120827449	H1-hESC	embryonic stem cell:	n/a	chr12:120826819-120826828
41	GABPA	chr12:120826706-120827007	H1-hESC	embryonic stem cell:	n/a	n/a
42	USF1	chr12:120826672-120827052	HepG2	liver:	n/a	chr12:120826816-120826829 chr12:120826812-120826833 chr12:120826817-120826828 chr12:120826818-120826827 chr12:120826818-120826827
43	CHD2	chr12:120826715-120827462	H1-hESC	embryonic stem cell:	n/a	n/a
44	MAX	chr12:120826294-120827372	H1-hESC	embryonic stem cell:	n/a	chr12:120827044-120827055 chr12:120826816-120826829 chr12:120826816-120826829 chr12:120826818-120826827 chr12:120827044-120827053 chr12:120827045-120827052 chr12:120826816-120826829 chr12:120826819-120826828 chr12:120827040-120827059 chr12:120826818-120826827 chr12:120827045-120827054
45	POLR2A	chr12:120826476-120827178	H1-hESC	embryonic stem cell:	n/a	n/a
46	USF1	chr12:120826572-120826952	K562	blood:	n/a	chr12:120826816-120826829 chr12:120826812-120826833 chr12:120826817-120826828 chr12:120826818-120826827 chr12:120826818-120826827
47	USF2	chr12:120826768-120826854	GM12878	blood:	n/a	chr12:120826816-120826829 chr12:120826812-120826833 chr12:120826818-120826827 chr12:120826818-120826827
48	BACH1	chr12:120826668-120827211	H1-hESC	embryonic stem cell:	n/a	n/a
49	EGR1	chr12:120826723-120827540	H1-hESC	embryonic stem cell:	n/a	n/a
50	E2F6	chr12:120826291-120827258	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
ENSG00000256695	TF binding region

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1179451	0.83[ASN][1000 genomes]
rs1184532	0.90[ASN][1000 genomes]
rs12298898	0.83[ASN][1000 genomes]
rs206948	0.94[ASN][1000 genomes]
rs206949	0.97[ASN][1000 genomes]
rs206952	0.97[ASN][1000 genomes]
rs2283367	0.81[ASN][1000 genomes]
rs2951690	0.88[ASN][1000 genomes]
rs3782901	0.81[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	nsv899555	chr12:120519124-120840522	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	499 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120825800-120829200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:120826200-120827000	Flanking Active TSS	Brain Germinal Matrix	brain
3	chr12:120826200-120827800	Enhancers	Fetal Brain Male	brain
4	chr12:120826400-120827000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
5	chr12:120826400-120827000	Flanking Active TSS	Brain Anterior Caudate	brain
6	chr12:120826400-120827200	Flanking Active TSS	Brain Hippocampus Middle	brain
7	chr12:120826400-120827400	Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr12:120826400-120827600	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr12:120826400-120827800	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr12:120826400-120829200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:120826600-120827000	Flanking Active TSS	H1 Cell Line	embryonic stem cell
12	chr12:120826600-120827000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr12:120826600-120827000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr12:120826600-120827000	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr12:120826600-120827000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
16	chr12:120826600-120827000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
17	chr12:120826600-120827000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
18	chr12:120826600-120827000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr12:120826600-120827000	Bivalent Enhancer	Adipose Nuclei	Adipose
20	chr12:120826600-120827000	Flanking Active TSS	Brain Cingulate Gyrus	brain
21	chr12:120826600-120827000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
22	chr12:120826600-120827000	Bivalent Enhancer	Placenta	Placenta
23	chr12:120826600-120827000	Enhancers	Gastric	stomach
24	chr12:120826600-120827000	Enhancers	Left Ventricle	heart
25	chr12:120826600-120827000	Enhancers	Placenta Amnion	Placenta Amnion
26	chr12:120826600-120827000	Flanking Bivalent TSS/Enh	HepG2	liver
27	chr12:120826600-120827200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
28	chr12:120826600-120827200	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr12:120826600-120827200	Enhancers	Primary B cells from peripheral blood	blood
30	chr12:120826600-120827200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr12:120826600-120827200	Flanking Active TSS	Brain Substantia Nigra	brain
32	chr12:120826600-120827200	Enhancers	Fetal Heart	heart
33	chr12:120826600-120827200	Active TSS	Fetal Kidney	kidney
34	chr12:120826600-120827200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
35	chr12:120826600-120827200	Flanking Active TSS	Ovary	ovary
36	chr12:120826600-120827200	Active TSS	Right Ventricle	heart
37	chr12:120826600-120827400	Enhancers	Lung	lung
38	chr12:120826600-120827800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr12:120826800-120827000	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr12:120826800-120827000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
41	chr12:120826800-120827000	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
42	chr12:120826800-120827000	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
43	chr12:120826800-120827000	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
44	chr12:120826800-120827000	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr12:120826800-120827000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr12:120826800-120827000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr12:120826800-120827000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr12:120826800-120827000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr12:120826800-120827000	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
50	chr12:120826800-120827000	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum

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