Variant report

Variant	rs7809993
Chromosome Location	chr7:117513664-117513665
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	CCNT2	chr7:117513283-117513689	K562	blood:	n/a	n/a
2	POLR2A	chr7:117511849-117513881	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr7:117513465-117514025	H1-hESC	embryonic stem cell:	n/a	n/a
4	MAZ	chr7:117513504-117513669	K562	blood:	n/a	n/a
5	POLR2A	chr7:117513333-117513813	SK-N-MC	brain:	n/a	n/a
6	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
7	CREB1	chr7:117513360-117513782	A549	lung:	n/a	n/a
8	YY1	chr7:117513293-117513671	HepG2	liver:	n/a	chr7:117513461-117513473
9	TAF1	chr7:117513305-117513781	H1-neurons	neurons:	n/a	n/a
10	RAD21	chr7:117513251-117514109	H1-hESC	embryonic stem cell:	n/a	n/a
11	HA-E2F1	chr7:117512542-117514137	MCF-7	breast:	n/a	chr7:117513362-117513371 chr7:117513203-117513212 chr7:117513158-117513173 chr7:117513568-117513578
12	TAF1	chr7:117513225-117513758	H1-hESC	embryonic stem cell:	n/a	n/a
13	TAF1	chr7:117513371-117513669	H1-neurons	neurons:	n/a	n/a
14	MAX	chr7:117513444-117513795	ECC-1	luminal epithelium:	n/a	n/a
15	TCF7L2	chr7:117512565-117513960	HCT-116	colon:	n/a	n/a
16	SIN3A	chr7:117511778-117514020	H1-hESC	embryonic stem cell:	n/a	chr7:117512210-117512223 chr7:117512933-117512946
17	HA-E2F1	chr7:117513362-117513930	Hela-S3	cervix:	n/a	chr7:117513362-117513371 chr7:117513568-117513578
18	MAZ	chr7:117513392-117513831	Hela-S3	cervix:	n/a	n/a
19	HMGN3	chr7:117513351-117513849	K562	blood:	n/a	n/a
20	YY1	chr7:117513226-117513760	H1-hESC	embryonic stem cell:	n/a	chr7:117513461-117513473
21	POLR2A	chr7:117513352-117513722	HCT-116	colon:	n/a	n/a
22	REST	chr7:117512755-117513684	H1-neurons	neurons:	n/a	chr7:117512933-117512946 chr7:117512936-117512949 chr7:117513552-117513561
23	POLR2A	chr7:117512182-117513971	H1-neurons	neurons:	n/a	n/a
24	HDAC2	chr7:117513354-117513900	H1-hESC	embryonic stem cell:	n/a	chr7:117513531-117513540
25	POLR2A	chr7:117513320-117513667	U87	brain:	n/a	n/a
26	ZNF143	chr7:117513213-117513915	H1-hESC	embryonic stem cell:	n/a	chr7:117513361-117513371
27	SIN3AK20	chr7:117513292-117513866	H1-hESC	embryonic stem cell:	n/a	n/a
28	TAF1	chr7:117513306-117513704	H1-hESC	embryonic stem cell:	n/a	n/a
29	YY1	chr7:117513346-117513672	HCT-116	colon:	n/a	chr7:117513461-117513473
30	MAZ	chr7:117512718-117514187	IMR90	lung:	n/a	chr7:117513056-117513066 chr7:117513212-117513222 chr7:117513240-117513250
31	TCF12	chr7:117513461-117513679	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr7:117513322-117513874	HCT-116	colon:	n/a	n/a
33	ZNF263	chr7:117513376-117513995	HEK293-T-REx	kidney:	n/a	n/a
34	RAD21	chr7:117513316-117514118	IMR90	lung:	n/a	n/a
35	MAX	chr7:117513472-117513989	Hela-S3	cervix:	n/a	n/a
36	CTBP2	chr7:117511981-117514002	H1-hESC	embryonic stem cell:	n/a	n/a
37	JUND	chr7:117513434-117513724	H1-hESC	embryonic stem cell:	n/a	n/a
38	POLR2A	chr7:117512031-117514060	H1-neurons	neurons:	n/a	n/a
39	POLR2A	chr7:117513168-117514080	SK-N-MC	brain:	n/a	n/a
40	TBP	chr7:117513334-117513939	H1-hESC	embryonic stem cell:	n/a	n/a
41	SMC3	chr7:117513663-117514114	Hela-S3	cervix:	n/a	n/a

Variant related genes	Relation type
CTTNBP2	TF binding region

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10242758	0.85[EUR][1000 genomes]
rs12154872	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2193255	0.85[EUR][1000 genomes]
rs35895632	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6965740	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7796203	0.80[AMR][1000 genomes]
rs7807677	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	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:108 , 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	chr7:117510200-117514200	Active TSS	Brain Angular Gyrus	brain
3	chr7:117510200-117514200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
4	chr7:117510400-117514200	Active TSS	Brain Inferior Temporal Lobe	brain
5	chr7:117510400-117514200	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr7:117510800-117513800	Active TSS	Brain Cingulate Gyrus	brain
7	chr7:117510800-117514200	Active TSS	Brain Substantia Nigra	brain
8	chr7:117511000-117514200	Active TSS	H1 Cell Line	embryonic stem cell
9	chr7:117511400-117513800	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
10	chr7:117511400-117514000	Active TSS	NHLF	lung
11	chr7:117511600-117514200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
12	chr7:117511600-117514200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr7:117511600-117514400	Active TSS	Breast Myoepithelial Primary Cells	Breast
14	chr7:117511800-117514000	Active TSS	HUES48 Cell Line	embryonic stem cell
15	chr7:117511800-117514000	Active TSS	HUES64 Cell Line	embryonic stem cell
16	chr7:117511800-117514000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr7:117511800-117514200	Active TSS	Brain Hippocampus Middle	brain
18	chr7:117511800-117514400	Active TSS	H9 Cell Line	embryonic stem cell
19	chr7:117512000-117513800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
20	chr7:117512000-117513800	Active TSS	Esophagus	oesophagus
21	chr7:117512000-117514000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr7:117512000-117514000	Active TSS	Colon Smooth Muscle	Colon
23	chr7:117512000-117514200	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr7:117512000-117514200	Active TSS	Ovary	ovary
25	chr7:117512000-117514200	Active TSS	Right Atrium	heart
26	chr7:117512200-117514000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr7:117512200-117514000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr7:117512200-117514000	Active TSS	iPS-15b Cell Line	embryonic stem cell
29	chr7:117512200-117514000	Active TSS	iPS-18 Cell Line	embryonic stem cell
30	chr7:117512200-117514000	Active TSS	iPS-20b Cell Line	embryonic stem cell
31	chr7:117512200-117514000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr7:117512200-117514200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
33	chr7:117512200-117514200	Active TSS	Aorta	Aorta
34	chr7:117512200-117514200	Bivalent/Poised TSS	Psoas Muscle	Psoas
35	chr7:117512200-117514200	Active TSS	Hela-S3	cervix
36	chr7:117512400-117513800	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
37	chr7:117512400-117514000	Bivalent/Poised TSS	Osteobl	bone
38	chr7:117512400-117514200	Flanking Active TSS	Liver	Liver
39	chr7:117512600-117514000	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr7:117512600-117514000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr7:117512600-117514000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr7:117512600-117514000	Active TSS	Fetal Lung	lung
43	chr7:117512600-117514000	Bivalent/Poised TSS	Small Intestine	intestine
44	chr7:117512600-117514000	Bivalent/Poised TSS	NHDF-Ad	bronchial
45	chr7:117512600-117514200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
46	chr7:117512600-117514200	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr7:117512800-117514000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr7:117512800-117514000	Bivalent/Poised TSS	Thymus	Thymus
49	chr7:117512800-117514000	Bivalent/Poised TSS	HSMMtube	muscle
50	chr7:117512800-117514200	Bivalent/Poised TSS	Primary T cells from cord blood	blood

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