Variant report

Variant	rs12154872
Chromosome Location	chr7:117512932-117512933
allele	A/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	POLR2A	chr7:117511849-117513881	H1-hESC	embryonic stem cell:	n/a	n/a
2	GTF2F1	chr7:117512781-117512932	H1-hESC	embryonic stem cell:	n/a	n/a
3	REST	chr7:117511930-117514238	H1-neurons	neurons:	n/a	chr7:117512933-117512946 chr7:117512936-117512949 chr7:117512478-117512486 chr7:117512210-117512223 chr7:117513746-117513759 chr7:117513552-117513561
4	TCF12	chr7:117512778-117512981	H1-hESC	embryonic stem cell:	n/a	n/a
5	CREB1	chr7:117512769-117513039	A549	lung:	n/a	n/a
6	ZNF263	chr7:117511757-117513155	HEK293-T-REx	kidney:	n/a	chr7:117512184-117512193 chr7:117512183-117512204
7	BACH1	chr7:117512254-117513144	H1-hESC	embryonic stem cell:	n/a	n/a
8	CTCF	chr7:117512800-117512950	AG09309	skin:	n/a	chr7:117512903-117512911
9	HA-E2F1	chr7:117512542-117514137	MCF-7	breast:	n/a	chr7:117513362-117513371 chr7:117513203-117513212 chr7:117513158-117513173 chr7:117513568-117513578
10	RAD21	chr7:117512682-117512983	IMR90	lung:	n/a	chr7:117512804-117512817
11	POLR2A	chr7:117512346-117513190	H1-hESC	embryonic stem cell:	n/a	n/a
12	TCF7L2	chr7:117512565-117513960	HCT-116	colon:	n/a	n/a
13	ZBTB7A	chr7:117512705-117513260	ECC-1	luminal epithelium:	n/a	chr7:117513247-117513255
14	CTCF	chr7:117512820-117512970	HCPEpiC	choroid plexus:	n/a	chr7:117512903-117512911
15	SIN3A	chr7:117511778-117514020	H1-hESC	embryonic stem cell:	n/a	chr7:117512210-117512223 chr7:117512933-117512946
16	CTCF	chr7:117512729-117512964	A549	lung:	n/a	chr7:117512903-117512911
17	TAF1	chr7:117512244-117513183	H1-neurons	neurons:	n/a	n/a
18	POLR2A	chr7:117512913-117513030	Gliobla	brain:	n/a	n/a
19	POLR2A	chr7:117512667-117512942	HCT-116	colon:	n/a	n/a
20	REST	chr7:117512755-117513684	H1-neurons	neurons:	n/a	chr7:117512933-117512946 chr7:117512936-117512949 chr7:117513552-117513561
21	POLR2A	chr7:117512182-117513971	H1-neurons	neurons:	n/a	n/a
22	MAZ	chr7:117512718-117514187	IMR90	lung:	n/a	chr7:117513056-117513066 chr7:117513212-117513222 chr7:117513240-117513250
23	CTCF	chr7:117512800-117512950	HCT-116	colon:	n/a	chr7:117512903-117512911
24	ZBTB7A	chr7:117512903-117513584	ECC-1	luminal epithelium:	n/a	chr7:117513247-117513255
25	CTCF	chr7:117512820-117512970	Hela-S3	cervix:	n/a	chr7:117512903-117512911
26	POLR2A	chr7:117512036-117513135	SK-N-MC	brain:	n/a	n/a
27	CTBP2	chr7:117511981-117514002	H1-hESC	embryonic stem cell:	n/a	n/a
28	SMC3	chr7:117512711-117512978	Hela-S3	cervix:	n/a	n/a
29	POLR2A	chr7:117512031-117514060	H1-neurons	neurons:	n/a	n/a
30	CTCF	chr7:117512800-117512950	HEK293	kidney:	n/a	chr7:117512903-117512911
31	CTCF	chr7:117512840-117512990	WI-38	lung:	n/a	chr7:117512903-117512911

Variant related genes	Relation type
CTTNBP2	TF binding region

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10233018	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10242758	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2193255	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35895632	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6965740	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7796203	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7807677	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7809993	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[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	nsv869971	chr7:117420583-118274149	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:117509800-117514400	Active TSS	Brain Anterior Caudate	brain
2	chr7:117510200-117513200	Active TSS	Fetal Brain Male	brain
3	chr7:117510200-117514200	Active TSS	Brain Angular Gyrus	brain
4	chr7:117510200-117514200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
5	chr7:117510400-117514200	Active TSS	Brain Inferior Temporal Lobe	brain
6	chr7:117510400-117514200	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr7:117510800-117513800	Active TSS	Brain Cingulate Gyrus	brain
8	chr7:117510800-117514200	Active TSS	Brain Substantia Nigra	brain
9	chr7:117511000-117514200	Active TSS	H1 Cell Line	embryonic stem cell
10	chr7:117511400-117513800	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
11	chr7:117511400-117514000	Active TSS	NHLF	lung
12	chr7:117511600-117514200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
13	chr7:117511600-117514200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr7:117511600-117514400	Active TSS	Breast Myoepithelial Primary Cells	Breast
15	chr7:117511800-117513000	Flanking Active TSS	Stomach Smooth Muscle	stomach
16	chr7:117511800-117513200	Flanking Active TSS	Adipose Nuclei	Adipose
17	chr7:117511800-117513200	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
18	chr7:117511800-117514000	Active TSS	HUES48 Cell Line	embryonic stem cell
19	chr7:117511800-117514000	Active TSS	HUES64 Cell Line	embryonic stem cell
20	chr7:117511800-117514000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr7:117511800-117514200	Active TSS	Brain Hippocampus Middle	brain
22	chr7:117511800-117514400	Active TSS	H9 Cell Line	embryonic stem cell
23	chr7:117512000-117513000	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr7:117512000-117513000	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr7:117512000-117513000	Flanking Active TSS	NH-A	brain
26	chr7:117512000-117513800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
27	chr7:117512000-117513800	Active TSS	Esophagus	oesophagus
28	chr7:117512000-117514000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr7:117512000-117514000	Active TSS	Colon Smooth Muscle	Colon
30	chr7:117512000-117514200	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr7:117512000-117514200	Active TSS	Ovary	ovary
32	chr7:117512000-117514200	Active TSS	Right Atrium	heart
33	chr7:117512200-117513000	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr7:117512200-117513000	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr7:117512200-117513000	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr7:117512200-117513000	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
37	chr7:117512200-117513000	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
38	chr7:117512200-117513000	Flanking Active TSS	Left Ventricle	heart
39	chr7:117512200-117513000	Flanking Active TSS	Pancreas	Pancrea
40	chr7:117512200-117513000	Flanking Active TSS	Right Ventricle	heart
41	chr7:117512200-117513200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr7:117512200-117513200	Bivalent/Poised TSS	Brain Germinal Matrix	brain
43	chr7:117512200-117513200	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
44	chr7:117512200-117513200	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
45	chr7:117512200-117513200	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
46	chr7:117512200-117514000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr7:117512200-117514000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr7:117512200-117514000	Active TSS	iPS-15b Cell Line	embryonic stem cell
49	chr7:117512200-117514000	Active TSS	iPS-18 Cell Line	embryonic stem cell
50	chr7:117512200-117514000	Active TSS	iPS-20b Cell Line	embryonic stem cell

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