Variant report

Variant	rs17005793
Chromosome Location	chr3:69436084-69436085
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT3	chr3:69435976-69436136	MCF10A-Er-Src	breast:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:69436045-69436095	MCF10A-Er-Src	breast:	n/a
2	chr3:69436045-69436095	HCM	heart:	n/a
3	chr3:69436045-69436095	AG04449	skin:	fetal
4	chr3:69436045-69436095	MCF-7	breast:	n/a
5	chr3:69436045-69436095	PrEC	prostate:	n/a
6	chr3:69436045-69436095	AoSMC	blood vessel:	n/a
7	chr3:69436045-69436095	HCT-116	colon:	n/a
8	chr3:69436045-69436095	HRE	kidney:	n/a
9	chr3:69436045-69436095	LNCaP	prostate:	n/a
10	chr3:69436045-69436095	SKMC	muscle:	n/a
11	chr3:69436045-69436095	NB4	blood:	n/a
12	chr3:69436045-69436095	A549	lung:	n/a
13	chr3:69436045-69436095	HUVEC	blood vessel:	n/a
14	chr3:69436045-69436095	ovcar-3	ovarian:	n/a
15	chr3:69436045-69436095	HAEpiC	amniotic membrane:	n/a
16	chr3:69436045-69436095	PANC-1	pancreas:	n/a
17	chr3:69436045-69436095	NH-A	brain:	n/a
18	chr3:69436045-69436095	ECC-1	luminal epithelium:	n/a
19	chr3:69436045-69436095	Hela-S3	cervix:	n/a
20	chr3:69436045-69436095	Jurkat	blood:	n/a
21	chr3:69436045-69436095	HL-60	blood:	n/a
22	chr3:69436045-69436095	GM06990	blood:	n/a
23	chr3:69436045-69436095	GM12891	blood:	n/a
24	chr3:69436045-69436095	HPAEpiC	pulmonary alveolar:	n/a
25	chr3:69436045-69436095	HCF	heart:	n/a
26	chr3:69436045-69436095	HCPEpiC	choroid plexus:	n/a
27	chr3:69436045-69436095	Caco-2	colon:	n/a
28	chr3:69436045-69436095	HIPEpiC	eye:	n/a
29	chr3:69436045-69436095	GM12892	blood:	n/a
30	chr3:69436045-69436095	IMR90	lung:	fetal
31	chr3:69436045-69436095	RPTEC	kidney:	n/a
32	chr3:69436045-69436095	AG04450	lung:	fetal
33	chr3:69436045-69436095	HepG2	liver:	n/a
34	chr3:69436045-69436095	AG09309	skin:	n/a
35	chr3:69436045-69436095	BJ	skin:	n/a
36	chr3:69436045-69436095	HNPCEpiC	eye:	n/a
37	chr3:69436045-69436095	AG09319	gingival:	n/a
38	chr3:69436045-69436095	NT2-D1	testis:	n/a
39	chr3:69436045-69436095	BE2_C	brain:	n/a
40	chr3:69436045-69436095	H1-hESC	embryonic stem cell:	embryo
41	chr3:69436045-69436095	GM19239	blood:	n/a
42	chr3:69436045-69436095	AG10803	skin:	n/a
43	chr3:69436045-69436095	HEK293	kidney:	embryo
44	chr3:69436045-69436095	T-47D	breast:	n/a
45	chr3:69436045-69436095	GM12878	blood:	n/a
46	chr3:69436045-69436095	Hepatocyte	liver:	n/a
47	chr3:69436045-69436095	NHBE	bronchial:	n/a
48	chr3:69436045-69436095	SK-N-SH	brain:	n/a
49	chr3:69436045-69436095	CMK	blood:	n/a
50	chr3:69436045-69436095	HEEpiC	esophagus:	n/a

No data

Variant related genes	Relation type
FRMD4B	TF binding region
FRMD4B	CpG island

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10510974	1.00[AMR][1000 genomes]
rs11921571	1.00[AMR][1000 genomes]
rs11926441	1.00[AMR][1000 genomes]
rs17005804	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17005825	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17005829	1.00[AMR][1000 genomes]
rs17005849	1.00[AMR][1000 genomes]
rs17043802	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72937850	0.82[AFR][1000 genomes]
rs72937857	1.00[AMR][1000 genomes]
rs72937895	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007730	chr3:69355932-69730587	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	esv2760780	chr3:69413876-69513947	Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	esv3426797	chr3:69433086-69777229	Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:69432600-69436200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr3:69433400-69436200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr3:69433800-69436200	Flanking Active TSS	HMEC	breast
4	chr3:69434800-69436200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr3:69434800-69436200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr3:69435000-69436200	Flanking Active TSS	NHEK	skin
7	chr3:69435200-69436200	Enhancers	Fetal Brain Male	brain
8	chr3:69435600-69436200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
9	chr3:69435600-69436200	Flanking Active TSS	Dnd41	blood
10	chr3:69435600-69438800	Weak transcription	Lung	lung
11	chr3:69435800-69436200	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr3:69435800-69436200	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr3:69435800-69436200	Enhancers	Fetal Heart	heart
14	chr3:69435800-69436200	Bivalent Enhancer	Fetal Kidney	kidney
15	chr3:69435800-69436400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
16	chr3:69435800-69436400	Enhancers	Fetal Thymus	thymus
17	chr3:69435800-69436600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr3:69435800-69438400	Weak transcription	HUVEC	blood vessel
19	chr3:69436000-69436200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
20	chr3:69436000-69436200	Enhancers	Primary T cells from cord blood	blood
21	chr3:69436000-69436200	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
22	chr3:69436000-69436200	Enhancers	Brain Germinal Matrix	brain
23	chr3:69436000-69436200	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr3:69436000-69436200	Enhancers	Thymus	Thymus
25	chr3:69436000-69436200	Bivalent Enhancer	NHLF	lung
26	chr3:69436000-69436400	Enhancers	Brain Cingulate Gyrus	brain
27	chr3:69436000-69436600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr3:69436000-69436600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
29	chr3:69436000-69437200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr3:69436000-69437200	Weak transcription	Brain Angular Gyrus	brain
31	chr3:69436000-69437200	Weak transcription	HSMM	muscle
32	chr3:69436000-69437400	Weak transcription	Right Ventricle	heart
33	chr3:69436000-69438000	Enhancers	Brain Substantia Nigra	brain
34	chr3:69436000-69438400	Weak transcription	Primary hematopoietic stem cells	blood
35	chr3:69436000-69438400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr3:69436000-69438400	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr3:69436000-69438600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr3:69436000-69438600	Weak transcription	Brain Anterior Caudate	brain
39	chr3:69436000-69438600	Weak transcription	Fetal Lung	lung
40	chr3:69436000-69438800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr3:69436000-69438800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr3:69436000-69439200	Weak transcription	Esophagus	oesophagus
43	chr3:69436000-69439400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr3:69436000-69439600	Enhancers	Brain Hippocampus Middle	brain
45	chr3:69436000-69441400	Weak transcription	Left Ventricle	heart
46	chr3:69436000-69441400	Weak transcription	Spleen	Spleen

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