Variant report

Variant	rs3763463
Chromosome Location	chr7:108097491-108097492
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HA-E2F1	chr7:108094960-108097697	MCF-7	breast:	n/a	chr7:108095839-108095848 chr7:108095496-108095505 chr7:108097430-108097439 chr7:108097075-108097085 chr7:108097189-108097201 chr7:108096365-108096374 chr7:108096253-108096262 chr7:108095502-108095514 chr7:108097162-108097171 chr7:108096814-108096823
2	RAD21	chr7:108092449-108097615	SK-N-SH	brain:	n/a	chr7:108096386-108096400 chr7:108097072-108097086

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:108097477-108097527	NHDF-neo	bronchial:	n/a
2	chr7:108097477-108097527	ECC-1	luminal epithelium:	n/a
3	chr7:108097477-108097527	AoSMC	blood vessel:	n/a
4	chr7:108097477-108097527	NB4	blood:	n/a
5	chr7:108097477-108097527	HAEpiC	amniotic membrane:	n/a
6	chr7:108097477-108097527	HUVEC	blood vessel:	n/a
7	chr7:108097477-108097527	K562	blood:	n/a
8	chr7:108097477-108097527	T-47D	breast:	n/a
9	chr7:108097477-108097527	MCF10A-Er-Src	breast:	n/a
10	chr7:108097477-108097527	AG04449	skin:	fetal
11	chr7:108097477-108097527	NH-A	brain:	n/a
12	chr7:108097477-108097527	GM12878	blood:	n/a
13	chr7:108097477-108097527	GM06990	blood:	n/a
14	chr7:108097477-108097527	HRPEpiC	eye:	n/a
15	chr7:108097477-108097527	NHBE	bronchial:	n/a
16	chr7:108097477-108097527	Hepatocyte	liver:	n/a
17	chr7:108097477-108097527	PFSK-1	brain:	n/a
18	chr7:108097477-108097527	HRCEpiC	kidney:	n/a
19	chr7:108097477-108097527	SK-N-MC	brain:	n/a
20	chr7:108097477-108097527	SK-N-SH_RA	brain:	n/a
21	chr7:108097477-108097527	Hela-S3	cervix:	n/a
22	chr7:108097477-108097527	HCF	heart:	n/a
23	chr7:108097477-108097527	HEK293	kidney:	embryo
24	chr7:108097477-108097527	ovcar-3	ovarian:	n/a
25	chr7:108097477-108097527	Jurkat	blood:	n/a
26	chr7:108097477-108097527	H1-hESC	embryonic stem cell:	embryo
27	chr7:108097477-108097527	HCT-116	colon:	n/a
28	chr7:108097477-108097527	AG09309	skin:	n/a
29	chr7:108097477-108097527	SK-N-SH	brain:	n/a
30	chr7:108097477-108097527	RPTEC	kidney:	n/a
31	chr7:108097477-108097527	IMR90	lung:	fetal
32	chr7:108097477-108097527	HMEC	breast:	n/a
33	chr7:108097477-108097527	HL-60	blood:	n/a
34	chr7:108097477-108097527	HRE	kidney:	n/a
35	chr7:108097477-108097527	MCF-7	breast:	n/a
36	chr7:108097477-108097527	PANC-1	pancreas:	n/a
37	chr7:108097477-108097527	HepG2	liver:	n/a
38	chr7:108097477-108097527	GM12892	blood:	n/a
39	chr7:108097477-108097527	A549	lung:	n/a
40	chr7:108097477-108097527	BE2_C	brain:	n/a
41	chr7:108097477-108097527	AG09319	gingival:	n/a
42	chr7:108097477-108097527	AG10803	skin:	n/a
43	chr7:108097477-108097527	HEEpiC	esophagus:	n/a
44	chr7:108097477-108097527	NT2-D1	testis:	n/a
45	chr7:108097477-108097527	SAEC	small airway:	n/a
46	chr7:108097477-108097527	U87	brain:	n/a
47	chr7:108097477-108097527	LNCaP	prostate:	n/a
48	chr7:108097477-108097527	HCM	heart:	n/a
49	chr7:108097477-108097527	HIPEpiC	eye:	n/a
50	chr7:108097477-108097527	HNPCEpiC	eye:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:107996666..108000210-chr7:108094187..108098858,6	MCF-7	breast:
2	chr7:107998008..108001072-chr7:108096682..108098603,3	MCF-7	breast:
3	chr7:108095582..108097658-chr7:108210312..108212186,2	MCF-7	breast:
4	chr7:107817682..107823715-chr7:108094168..108099407,9	MCF-7	breast:

No data

Variant related genes	Relation type
NRCAM	TF binding region
NRCAM	CpG island
ENSG00000128590	Chromatin interaction
ENSG00000091129	Chromatin interaction
ENSG00000266112	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs1034827	0.82[AMR][1000 genomes]
rs10953572	0.83[EUR][1000 genomes]
rs10953573	0.83[EUR][1000 genomes]
rs11971386	0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11977071	0.80[EUR][1000 genomes]
rs11983802	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11983842	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12530879	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12531222	0.82[AMR][1000 genomes]
rs12536929	0.83[EUR][1000 genomes]
rs12538539	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12540029	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12705474	0.91[EUR][1000 genomes]
rs16872576	0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16872577	0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17134769	0.80[EUR][1000 genomes]
rs34164886	0.91[EUR][1000 genomes]
rs34459886	0.91[EUR][1000 genomes]
rs34771129	0.91[EUR][1000 genomes]
rs34827770	0.91[EUR][1000 genomes]
rs34915298	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34959248	0.91[EUR][1000 genomes]
rs35220845	0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35444439	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35687881	0.83[EUR][1000 genomes]
rs3752639	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3763460	0.91[EUR][1000 genomes]
rs60117684	0.91[EUR][1000 genomes]
rs6964631	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6980319	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs71568523	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71568524	0.81[EUR][1000 genomes]
rs71568525	0.81[EUR][1000 genomes]
rs71568529	0.91[EUR][1000 genomes]
rs71568533	0.81[EUR][1000 genomes]
rs7786180	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9641410	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9641411	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3348839	chr7:107377311-108286538	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
2	esv3358442	chr7:108095941-108098489	Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:108094600-108097800	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr7:108094800-108097800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr7:108095000-108097600	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr7:108095000-108097600	Active TSS	Breast Myoepithelial Primary Cells	Breast
5	chr7:108095000-108097800	Active TSS	Fetal Brain Female	brain
6	chr7:108095000-108098000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
7	chr7:108095200-108097600	Active TSS	H9 Cell Line	embryonic stem cell
8	chr7:108095200-108097600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
9	chr7:108095200-108097600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
10	chr7:108095200-108097600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
11	chr7:108095200-108097600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
12	chr7:108095200-108097800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
13	chr7:108095200-108097800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
14	chr7:108095200-108097800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr7:108095200-108097800	Bivalent/Poised TSS	Fetal Intestine Small	intestine
16	chr7:108095200-108098000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
17	chr7:108095200-108098200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
18	chr7:108095400-108097600	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr7:108096200-108097600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr7:108096200-108097600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr7:108096200-108097600	Bivalent/Poised TSS	NHEK	skin
22	chr7:108096200-108097800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
23	chr7:108096400-108097600	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
24	chr7:108096400-108097800	Active TSS	Brain Cingulate Gyrus	brain
25	chr7:108096600-108097800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr7:108096600-108097800	Active TSS	Cortex derived primary cultured neurospheres	brain
27	chr7:108096600-108097800	Bivalent/Poised TSS	Fetal Intestine Large	intestine
28	chr7:108096800-108097600	Active TSS	Brain Hippocampus Middle	brain
29	chr7:108096800-108097600	Active TSS	Brain Inferior Temporal Lobe	brain
30	chr7:108096800-108097600	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
31	chr7:108096800-108097800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr7:108096800-108097800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
33	chr7:108096800-108098000	Enhancers	Fetal Brain Male	brain
34	chr7:108097000-108097800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr7:108097200-108097600	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
36	chr7:108097200-108097600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr7:108097200-108097600	Bivalent Enhancer	Adipose Nuclei	Adipose
38	chr7:108097200-108097600	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
39	chr7:108097200-108097600	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
40	chr7:108097200-108097600	Bivalent/Poised TSS	Fetal Kidney	kidney
41	chr7:108097200-108097600	Flanking Bivalent TSS/Enh	Fetal Lung	lung
42	chr7:108097200-108097600	Weak transcription	Pancreas	Pancrea
43	chr7:108097200-108097800	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
44	chr7:108097200-108097800	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
45	chr7:108097200-108097800	Bivalent Enhancer	Fetal Heart	heart
46	chr7:108097200-108097800	Flanking Active TSS	HUVEC	blood vessel
47	chr7:108097200-108100000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr7:108097200-108118000	Weak transcription	Aorta	Aorta
49	chr7:108097400-108097600	Bivalent Enhancer	Primary B cells from cord blood	blood
50	chr7:108097400-108097600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood

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