Variant report

Variant	rs1724296
Chromosome Location	chr7:96646180-96646181
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	MYBL2	chr7:96645758-96646343	HepG2	liver:	n/a	n/a
2	CHD1	chr7:96645953-96646191	H1-hESC	embryonic stem cell:	n/a	n/a
3	TCF7L2	chr7:96645431-96646653	HEK293	kidney:	n/a	chr7:96646329-96646345 chr7:96646333-96646342 chr7:96646329-96646345 chr7:96646330-96646344 chr7:96646331-96646341
4	RFX5	chr7:96645866-96646641	HepG2	liver:	n/a	n/a
5	MAX	chr7:96645445-96647135	HepG2	liver:	n/a	chr7:96645880-96645890
6	TCF12	chr7:96645949-96646237	H1-hESC	embryonic stem cell:	n/a	n/a
7	ELF1	chr7:96645824-96646341	HepG2	liver:	n/a	n/a
8	CTCF	chr7:96645816-96646240	H1-hESC	embryonic stem cell:	n/a	n/a
9	RAD21	chr7:96645784-96646291	H1-hESC	embryonic stem cell:	n/a	chr7:96645969-96645979 chr7:96645967-96645979
10	TAF1	chr7:96646077-96646682	HepG2	liver:	n/a	n/a
11	MYBL2	chr7:96645485-96646394	HepG2	liver:	n/a	n/a
12	CHD2	chr7:96646047-96646404	H1-hESC	embryonic stem cell:	n/a	n/a
13	CEBPD	chr7:96645743-96646437	HepG2	liver:	n/a	n/a
14	POLR2A	chr7:96645961-96646670	Gliobla	brain:	n/a	n/a
15	YY1	chr7:96645747-96646354	H1-hESC	embryonic stem cell:	n/a	n/a
16	ARID3A	chr7:96646138-96646500	HepG2	liver:	n/a	n/a
17	TBP	chr7:96645949-96646258	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr7:96629453-96654775	H1-neurons	neurons:	n/a	n/a
19	CTCF	chr7:96645924-96646238	Gliobla	brain:	n/a	n/a
20	NFIC	chr7:96645759-96646328	HepG2	liver:	n/a	chr7:96646010-96646027 chr7:96646010-96646026
21	CTCF	chr7:96645846-96646243	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr7:96645671-96646986	HepG2	liver:	n/a	n/a
23	MAX	chr7:96645327-96647094	HepG2	liver:	n/a	chr7:96645880-96645890
24	GATA2	chr7:96645388-96646979	SH-SY5Y	brain:	n/a	n/a
25	POLR2A	chr7:96645545-96646722	HepG2	liver:	n/a	n/a
26	RAD21	chr7:96645619-96646198	HepG2	liver:	n/a	chr7:96645969-96645979 chr7:96645967-96645979
27	TCF12	chr7:96646017-96646294	H1-hESC	embryonic stem cell:	n/a	n/a
28	KAP1	chr7:96645755-96646404	HEK293	kidney:	n/a	n/a
29	MXI1	chr7:96645562-96646644	HepG2	liver:	n/a	n/a
30	CHD2	chr7:96646134-96646656	HepG2	liver:	n/a	n/a
31	BACH1	chr7:96646107-96646657	H1-hESC	embryonic stem cell:	n/a	n/a
32	RAD21	chr7:96645793-96646452	HepG2	liver:	n/a	chr7:96645969-96645979 chr7:96645967-96645979
33	RAD21	chr7:96645648-96646302	H1-hESC	embryonic stem cell:	n/a	chr7:96645969-96645979 chr7:96645967-96645979
34	CTBP2	chr7:96645669-96647906	H1-hESC	embryonic stem cell:	n/a	n/a
35	ZNF263	chr7:96644497-96646964	HEK293-T-REx	kidney:	n/a	chr7:96644758-96644767 chr7:96644756-96644777 chr7:96646239-96646248
36	YY1	chr7:96645869-96646327	H1-hESC	embryonic stem cell:	n/a	n/a
37	HEY1	chr7:96645596-96646673	HepG2	liver:	n/a	n/a
38	TBP	chr7:96645745-96646626	HepG2	liver:	n/a	n/a
39	SIN3A	chr7:96645865-96646305	H1-hESC	embryonic stem cell:	n/a	n/a
40	HDAC2	chr7:96645483-96646632	HepG2	liver:	n/a	n/a
41	CREB1	chr7:96645485-96646794	HepG2	liver:	n/a	n/a
42	BRCA1	chr7:96645889-96646225	HepG2	liver:	n/a	n/a
43	SUZ12	chr7:96645469-96648990	H1-hESC	embryonic stem cell:	n/a	n/a
44	SP1	chr7:96645783-96646252	H1-hESC	embryonic stem cell:	n/a	chr7:96646029-96646042 chr7:96646070-96646084
45	REST	chr7:96645097-96647724	H1-neurons	neurons:	n/a	n/a
46	NFIC	chr7:96645790-96646333	ECC-1	luminal epithelium:	n/a	chr7:96646010-96646027 chr7:96646010-96646026
47	TCF7L2	chr7:96645956-96646746	PANC-1	pancreas:	n/a	chr7:96646329-96646345 chr7:96646333-96646342 chr7:96646329-96646345 chr7:96646330-96646344 chr7:96646331-96646341
48	TAF1	chr7:96645667-96646737	HepG2	liver:	n/a	n/a
49	POLR2A	chr7:96645329-96646890	HepG2	liver:	n/a	n/a
50	CTCF	chr7:96646100-96646250	NHEK	skin:	n/a	n/a

Variant related genes	Relation type
DLX6-AS1	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]
rs1005169	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1034759	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1114319	1.00[ASN][1000 genomes]
rs1207733	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1724297	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs757534	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs917046	0.95[EUR][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	nsv824221	chr7:96620279-96669211	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:96643200-96647000	Active TSS	Brain Germinal Matrix	brain
2	chr7:96644400-96646800	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr7:96644600-96648200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
4	chr7:96645200-96646200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr7:96645200-96646200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
6	chr7:96645200-96647800	Flanking Active TSS	Osteobl	bone
7	chr7:96645200-96651600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
8	chr7:96645400-96646200	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
9	chr7:96645400-96646600	Active TSS	HepG2	liver
10	chr7:96645400-96648400	Bivalent Enhancer	Fetal Brain Male	brain
11	chr7:96645600-96646200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
12	chr7:96645600-96646200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr7:96645600-96646200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr7:96645600-96646400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
15	chr7:96645600-96646400	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
16	chr7:96645600-96646600	Bivalent Enhancer	Primary hematopoietic stem cells	blood
17	chr7:96645600-96646600	Bivalent Enhancer	Liver	Liver
18	chr7:96645600-96646600	Flanking Bivalent TSS/Enh	Placenta	Placenta
19	chr7:96645600-96647000	Bivalent Enhancer	Lung	lung
20	chr7:96645600-96647400	Bivalent/Poised TSS	Brain Anterior Caudate	brain
21	chr7:96645600-96647400	Bivalent Enhancer	Brain Substantia Nigra	brain
22	chr7:96645600-96647800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr7:96645600-96647800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
24	chr7:96645600-96647800	Bivalent Enhancer	Fetal Stomach	stomach
25	chr7:96645600-96647800	Bivalent Enhancer	Stomach Smooth Muscle	stomach
26	chr7:96645600-96648200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
27	chr7:96645800-96646200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
28	chr7:96645800-96646200	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr7:96645800-96646200	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr7:96645800-96646200	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr7:96645800-96646200	Bivalent Enhancer	Brain Cingulate Gyrus	brain
32	chr7:96645800-96646200	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
33	chr7:96645800-96646200	Bivalent Enhancer	Esophagus	oesophagus
34	chr7:96645800-96646200	Bivalent Enhancer	HMEC	breast
35	chr7:96645800-96646200	Bivalent/Poised TSS	NHEK	skin
36	chr7:96645800-96646400	Bivalent Enhancer	Colonic Mucosa	Colon
37	chr7:96645800-96646400	Bivalent/Poised TSS	A549	lung
38	chr7:96645800-96646600	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr7:96645800-96646600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
40	chr7:96645800-96646600	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr7:96645800-96646600	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr7:96645800-96646600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
43	chr7:96645800-96646600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
44	chr7:96645800-96646600	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr7:96645800-96646600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr7:96645800-96646600	Enhancers	Ovary	ovary
47	chr7:96645800-96646800	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
48	chr7:96645800-96647000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
49	chr7:96645800-96647000	Enhancers	Pancreas	Pancrea
50	chr7:96645800-96647400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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