Variant report

Variant	rs73149535
Chromosome Location	chr7:79763889-79763890
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	BRCA1	chr7:79763589-79764015	Hela-S3	cervix:	n/a	n/a
2	CTCF	chr7:79763880-79764030	GM12865	blood:	n/a	chr7:79763991-79764001
3	MAX	chr7:79763586-79764040	H1-hESC	embryonic stem cell:	n/a	n/a
4	ZBTB33	chr7:79763639-79764093	HCT-116	colon:	n/a	n/a
5	CTCF	chr7:79763774-79764366	H1-hESC	embryonic stem cell:	n/a	chr7:79763991-79764001
6	POLR2A	chr7:79763684-79764701	HCT-116	colon:	n/a	n/a
7	CTCF	chr7:79763820-79763970	GM12868	blood:	n/a	n/a
8	CTCF	chr7:79763799-79764187	A549	lung:	n/a	chr7:79763991-79764001
9	TCF12	chr7:79763556-79764057	ECC-1	luminal epithelium:	n/a	n/a
10	RAD21	chr7:79762406-79766777	SK-N-SH	brain:	n/a	chr7:79763992-79764002 chr7:79764180-79764194
11	FOXP2	chr7:79763847-79764885	PFSK-1	brain:	n/a	n/a
12	CTCF	chr7:79763880-79764030	GM12869	blood:	n/a	chr7:79763991-79764001
13	POLR2A	chr7:79763733-79764085	Hela-S3	cervix:	n/a	n/a
14	CTCF	chr7:79763837-79764118	A549	lung:	n/a	chr7:79763991-79764001
15	CTCF	chr7:79763880-79764030	GM12873	blood:	n/a	chr7:79763991-79764001
16	MAX	chr7:79763725-79764696	HepG2	liver:	n/a	chr7:79764058-79764069
17	TBP	chr7:79763786-79764882	H1-hESC	embryonic stem cell:	n/a	n/a
18	HDAC2	chr7:79763757-79764078	HepG2	liver:	n/a	n/a
19	GTF2F1	chr7:79763727-79764291	Hela-S3	cervix:	n/a	n/a
20	CTCF	chr7:79763823-79764106	SK-N-SH_RA	brain:	n/a	chr7:79763991-79764001
21	ELK1	chr7:79763708-79764448	Hela-S3	cervix:	n/a	n/a
22	RFX5	chr7:79763485-79764398	Hela-S3	cervix:	n/a	n/a
23	MAX	chr7:79763531-79764739	A549	lung:	n/a	chr7:79764058-79764069
24	ZBTB7A	chr7:79763553-79765308	ECC-1	luminal epithelium:	n/a	chr7:79764241-79764250 chr7:79763994-79764003
25	USF1	chr7:79763824-79764209	A549	lung:	n/a	chr7:79764059-79764068 chr7:79764058-79764067 chr7:79764174-79764190 chr7:79764059-79764068
26	CTCF	chr7:79763860-79764010	HUVEC	blood vessel:	n/a	chr7:79763991-79764001
27	CTCF	chr7:79763840-79763990	HRE	kidney:	n/a	n/a
28	CTCF	chr7:79763846-79764127	Fibrobl	skin:	n/a	chr7:79763991-79764001
29	FOS	chr7:79763717-79764021	MCF10A-Er-Src	breast:	n/a	n/a
30	JUND	chr7:79763712-79764207	A549	lung:	n/a	n/a
31	RCOR1	chr7:79763431-79764960	Hela-S3	cervix:	n/a	n/a
32	MAZ	chr7:79763569-79764404	HepG2	liver:	n/a	chr7:79764058-79764069
33	RAD21	chr7:79763278-79764863	H1-hESC	embryonic stem cell:	n/a	chr7:79763992-79764002 chr7:79764180-79764194
34	CTCF	chr7:79763880-79764030	WERI-Rb-1	eye:	n/a	chr7:79763991-79764001
35	RAD21	chr7:79763766-79764192	HepG2	liver:	n/a	chr7:79763992-79764002
36	CTCF	chr7:79763860-79764175	A549	lung:	n/a	chr7:79763991-79764001
37	CTCF	chr7:79763880-79764030	A549	lung:	n/a	chr7:79763991-79764001
38	SIN3AK20	chr7:79763587-79765516	SK-N-SH	brain:	n/a	n/a
39	ATF3	chr7:79763857-79764102	HepG2	liver:	n/a	chr7:79764070-79764079
40	TFAP2C	chr7:79763610-79764887	Hela-S3	cervix:	n/a	n/a
41	HA-E2F1	chr7:79763779-79764950	Hela-S3	cervix:	n/a	chr7:79764066-79764080 chr7:79763996-79764006
42	POLR2A	chr7:79763755-79764756	HUVEC	blood vessel:	n/a	n/a
43	NR3C1	chr7:79763786-79764110	A549	lung:	n/a	n/a
44	POLR2A	chr7:79763615-79764505	HCT-116	colon:	n/a	n/a
45	CTCF	chr7:79763880-79764030	SK-N-SH_RA	brain:	n/a	chr7:79763991-79764001
46	EP300	chr7:79763604-79764179	SK-N-SH_RA	brain:	n/a	n/a
47	CTCF	chr7:79763840-79763990	HPAF	blood vessel:	n/a	n/a
48	CTCF	chr7:79763760-79763910	GM12867	blood:	n/a	n/a
49	CTCF	chr7:79763860-79764010	AoAF	blood vessel:	n/a	chr7:79763991-79764001
50	CTCF	chr7:79763880-79764030	AG09309	skin:	n/a	chr7:79763991-79764001

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:79763888-79763938	LNCaP	prostate:	n/a
2	chr7:79763888-79763938	GM06990	blood:	n/a
3	chr7:79763888-79763938	H1-hESC	embryonic stem cell:	embryo
4	chr7:79763888-79763938	HCPEpiC	choroid plexus:	n/a
5	chr7:79763888-79763938	AG04450	lung:	fetal
6	chr7:79763888-79763938	T-47D	breast:	n/a
7	chr7:79763888-79763938	SK-N-SH_RA	brain:	n/a
8	chr7:79763888-79763938	Caco-2	colon:	n/a
9	chr7:79763888-79763938	NB4	blood:	n/a
10	chr7:79763888-79763938	ovcar-3	ovarian:	n/a
11	chr7:79763888-79763938	HUVEC	blood vessel:	n/a
12	chr7:79763888-79763938	HepG2	liver:	n/a
13	chr7:79763888-79763938	HRE	kidney:	n/a
14	chr7:79763888-79763938	NHDF-neo	bronchial:	n/a
15	chr7:79763888-79763938	Hela-S3	cervix:	n/a
16	chr7:79763888-79763938	RPTEC	kidney:	n/a
17	chr7:79763888-79763938	BE2_C	brain:	n/a
18	chr7:79763888-79763938	Hepatocyte	liver:	n/a
19	chr7:79763888-79763938	HCF	heart:	n/a
20	chr7:79763888-79763938	HPAEpiC	pulmonary alveolar:	n/a
21	chr7:79763888-79763938	AG10803	skin:	n/a
22	chr7:79763888-79763938	MCF-7	breast:	n/a
23	chr7:79763888-79763938	GM19239	blood:	n/a
24	chr7:79763888-79763938	NH-A	brain:	n/a
25	chr7:79763888-79763938	SAEC	small airway:	n/a
26	chr7:79763888-79763938	HCM	heart:	n/a
27	chr7:79763888-79763938	SK-N-MC	brain:	n/a
28	chr7:79763888-79763938	HL-60	blood:	n/a
29	chr7:79763888-79763938	PANC-1	pancreas:	n/a
30	chr7:79763888-79763938	SKMC	muscle:	n/a
31	chr7:79763888-79763938	IMR90	lung:	fetal
32	chr7:79763888-79763938	BJ	skin:	n/a
33	chr7:79763888-79763938	SK-N-SH	brain:	n/a
34	chr7:79763888-79763938	PFSK-1	brain:	n/a
35	chr7:79763888-79763938	A549	lung:	n/a
36	chr7:79763888-79763938	HIPEpiC	eye:	n/a
37	chr7:79763888-79763938	K562	blood:	n/a
38	chr7:79763888-79763938	CMK	blood:	n/a
39	chr7:79763888-79763938	HAEpiC	amniotic membrane:	n/a
40	chr7:79763888-79763938	ECC-1	luminal epithelium:	n/a
41	chr7:79763888-79763938	U87	brain:	n/a
42	chr7:79763888-79763938	NHBE	bronchial:	n/a
43	chr7:79763888-79763938	AG09309	skin:	n/a
44	chr7:79763888-79763938	AoSMC	blood vessel:	n/a
45	chr7:79763888-79763938	ProgFib	skin:	n/a
46	chr7:79763888-79763938	HRPEpiC	eye:	n/a
47	chr7:79763888-79763938	PrEC	prostate:	n/a
48	chr7:79763888-79763938	HEEpiC	esophagus:	n/a
49	chr7:79763888-79763938	NT2-D1	testis:	n/a
50	chr7:79763888-79763938	MCF10A-Er-Src	breast:	n/a

Variant related genes	Relation type
GNAI1	TF binding region
GNAI1	CpG island

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12706644	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13228071	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13236880	0.98[EUR][1000 genomes];0.89[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	nsv429785	chr7:79589749-80177049	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:79762800-79764000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:79762800-79765800	Active TSS	Stomach Smooth Muscle	stomach
3	chr7:79763000-79764400	Active TSS	Fetal Brain Female	brain
4	chr7:79763200-79764000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr7:79763200-79764400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr7:79763200-79765000	Active TSS	Skeletal Muscle Female	skeletal muscle
7	chr7:79763200-79765600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr7:79763200-79766000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
9	chr7:79763200-79766200	Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr7:79763200-79766400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr7:79763200-79767000	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr7:79763200-79767000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
13	chr7:79763400-79764000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr7:79763400-79764000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
15	chr7:79763400-79764000	Flanking Active TSS	Colonic Mucosa	Colon
16	chr7:79763400-79764000	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
17	chr7:79763400-79764200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr7:79763400-79765000	Active TSS	H1 Cell Line	embryonic stem cell
19	chr7:79763400-79765000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
20	chr7:79763400-79765800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr7:79763400-79765800	Active TSS	Fetal Intestine Large	intestine
22	chr7:79763400-79765800	Active TSS	Rectal Smooth Muscle	rectum
23	chr7:79763400-79766000	Active TSS	H9 Cell Line	embryonic stem cell
24	chr7:79763400-79766000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr7:79763400-79766000	Active TSS	Fetal Lung	lung
26	chr7:79763400-79766200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr7:79763400-79766200	Active TSS	Colon Smooth Muscle	Colon
28	chr7:79763400-79766200	Active TSS	Pancreatic Islets	Pancreatic Islet
29	chr7:79763400-79766400	Active TSS	Duodenum Smooth Muscle	Duodenum
30	chr7:79763400-79766600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr7:79763400-79767000	Active TSS	HUES6 Cell Line	embryonic stem cell
32	chr7:79763400-79767400	Active TSS	Brain Angular Gyrus	brain
33	chr7:79763600-79764000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr7:79763600-79764000	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
35	chr7:79763600-79764000	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
36	chr7:79763600-79764000	Flanking Active TSS	Primary hematopoietic stem cells	blood
37	chr7:79763600-79764000	Active TSS	Fetal Heart	heart
38	chr7:79763600-79764000	Flanking Active TSS	Fetal Muscle Leg	muscle
39	chr7:79763600-79764000	Flanking Active TSS	HUVEC	blood vessel
40	chr7:79763600-79764400	Active TSS	Brain Germinal Matrix	brain
41	chr7:79763600-79765000	Bivalent/Poised TSS	Monocytes-CD14+_RO01746	blood
42	chr7:79763600-79765200	Active TSS	iPS-18 Cell Line	embryonic stem cell
43	chr7:79763600-79765200	Active TSS	iPS-20b Cell Line	embryonic stem cell
44	chr7:79763600-79765200	Active TSS	Rectal Mucosa Donor 29	rectum
45	chr7:79763600-79765400	Flanking Active TSS	Primary B cells from cord blood	blood
46	chr7:79763600-79765400	Active TSS	Gastric	stomach
47	chr7:79763600-79765400	Active TSS	Lung	lung
48	chr7:79763600-79765600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr7:79763600-79765600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr7:79763600-79765600	Active TSS	HUES48 Cell Line	embryonic stem cell

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