Variant report

Variant	rs8090365
Chromosome Location	chr18:12910932-12910933
allele	A/G
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:1)
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	ELF1	chr18:12910919-12911348	GM12878	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr18:12910904-12910954	HUVEC	blood vessel:	n/a
2	chr18:12910904-12910954	MCF10A-Er-Src	breast:	n/a
3	chr18:12910904-12910954	Caco-2	colon:	n/a
4	chr18:12910904-12910954	LNCaP	prostate:	n/a
5	chr18:12910904-12910954	PrEC	prostate:	n/a
6	chr18:12910904-12910954	GM12891	blood:	n/a
7	chr18:12910904-12910954	HL-60	blood:	n/a
8	chr18:12910904-12910954	HRCEpiC	kidney:	n/a
9	chr18:12910904-12910954	HIPEpiC	eye:	n/a
10	chr18:12910904-12910954	AG09319	gingival:	n/a
11	chr18:12910904-12910954	NB4	blood:	n/a
12	chr18:12910904-12910954	SK-N-SH	brain:	n/a
13	chr18:12910904-12910954	HRPEpiC	eye:	n/a
14	chr18:12910904-12910954	GM12878	blood:	n/a
15	chr18:12910904-12910954	CMK	blood:	n/a
16	chr18:12910904-12910954	GM19239	blood:	n/a
17	chr18:12910904-12910954	MCF-7	breast:	n/a
18	chr18:12910904-12910954	NHDF-neo	bronchial:	n/a
19	chr18:12910904-12910954	SK-N-SH_RA	brain:	n/a
20	chr18:12910904-12910954	NH-A	brain:	n/a
21	chr18:12910904-12910954	ovcar-3	ovarian:	n/a
22	chr18:12910904-12910954	AG04450	lung:	fetal
23	chr18:12910904-12910954	NT2-D1	testis:	n/a
24	chr18:12910904-12910954	BE2_C	brain:	n/a
25	chr18:12910904-12910954	HCM	heart:	n/a
26	chr18:12910904-12910954	HPAEpiC	pulmonary alveolar:	n/a
27	chr18:12910904-12910954	AG09309	skin:	n/a
28	chr18:12910904-12910954	Hepatocyte	liver:	n/a
29	chr18:12910904-12910954	HCF	heart:	n/a
30	chr18:12910904-12910954	HCPEpiC	choroid plexus:	n/a
31	chr18:12910904-12910954	HNPCEpiC	eye:	n/a
32	chr18:12910904-12910954	AoSMC	blood vessel:	n/a
33	chr18:12910904-12910954	T-47D	breast:	n/a
34	chr18:12910904-12910954	ProgFib	skin:	n/a
35	chr18:12910904-12910954	SAEC	small airway:	n/a
36	chr18:12910904-12910954	HEK293	kidney:	embryo
37	chr18:12910904-12910954	Jurkat	blood:	n/a
38	chr18:12910904-12910954	ECC-1	luminal epithelium:	n/a
39	chr18:12910904-12910954	IMR90	lung:	fetal
40	chr18:12910904-12910954	RPTEC	kidney:	n/a
41	chr18:12910904-12910954	NHBE	bronchial:	n/a
42	chr18:12910904-12910954	HAEpiC	amniotic membrane:	n/a
43	chr18:12910904-12910954	Hela-S3	cervix:	n/a
44	chr18:12910904-12910954	GM06990	blood:	n/a
45	chr18:12910904-12910954	H1-hESC	embryonic stem cell:	embryo
46	chr18:12910904-12910954	PANC-1	pancreas:	n/a
47	chr18:12910904-12910954	HMEC	breast:	n/a
48	chr18:12910904-12910954	GM12892	blood:	n/a
49	chr18:12910904-12910954	SKMC	muscle:	n/a
50	chr18:12910904-12910954	SK-N-MC	brain:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:12908308..12911481-chr18:12911721..12914247,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000267570	TF binding region
ENSG00000267336	TF binding region
ENSG00000267570	CpG island
ENSG00000267336	CpG island
ENSG00000267336	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11080611	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1983424	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs34568924	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3848468	0.85[JPT][hapmap]
rs3915012	0.85[JPT][hapmap]
rs4796969	0.85[JPT][hapmap]
rs4797716	0.89[ASN][1000 genomes]
rs4797717	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7242253	0.86[EUR][1000 genomes]
rs8094285	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9962435	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063125	chr18:12046892-12918251	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	130 gene(s)	inside rSNPs	diseases
2	nsv1062014	chr18:12687210-13183383	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
3	nsv543655	chr18:12687210-13183383	Flanking Bivalent TSS/Enh Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
4	nsv1064844	chr18:12748045-12953235	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	68 gene(s)	inside rSNPs	diseases
5	nsv543656	chr18:12748045-12953235	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	68 gene(s)	inside rSNPs	diseases
6	nsv909407	chr18:12877060-12917703	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12904400-12911200	Weak transcription	Spleen	Spleen
2	chr18:12906800-12911000	Weak transcription	Right Ventricle	heart
3	chr18:12907000-12911000	Weak transcription	Gastric	stomach
4	chr18:12907400-12911000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr18:12907400-12911200	Weak transcription	Lung	lung
6	chr18:12907600-12913600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr18:12908200-12911000	Weak transcription	Right Atrium	heart
8	chr18:12908400-12911000	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr18:12908400-12911200	Weak transcription	Ovary	ovary
10	chr18:12908800-12911000	Weak transcription	Left Ventricle	heart
11	chr18:12909000-12911000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr18:12909000-12911200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr18:12909200-12911000	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr18:12909200-12911000	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr18:12909200-12911000	Weak transcription	Fetal Thymus	thymus
16	chr18:12910000-12911200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr18:12910200-12911000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr18:12910800-12911000	Flanking Active TSS	Primary T cells from cord blood	blood
19	chr18:12910800-12911000	Active TSS	Primary hematopoietic stem cells	blood
20	chr18:12910800-12911000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr18:12910800-12911000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
22	chr18:12910800-12911000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
23	chr18:12910800-12911000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
24	chr18:12910800-12911000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr18:12910800-12911000	Bivalent Enhancer	Adipose Nuclei	Adipose
26	chr18:12910800-12911000	Flanking Active TSS	Duodenum Mucosa	Duodenum
27	chr18:12910800-12911000	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
28	chr18:12910800-12911000	Bivalent/Poised TSS	Monocytes-CD14+_RO01746	blood
29	chr18:12910800-12911000	Flanking Active TSS	NHEK	skin
30	chr18:12910800-12911200	Enhancers	Primary B cells from peripheral blood	blood
31	chr18:12910800-12911200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
32	chr18:12910800-12911200	Bivalent Enhancer	Fetal Intestine Small	intestine
33	chr18:12910800-12911200	Active TSS	Rectal Mucosa Donor 29	rectum
34	chr18:12910800-12911600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
35	chr18:12910800-12911600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
36	chr18:12910800-12911600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr18:12910800-12911800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
38	chr18:12910800-12911800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
39	chr18:12910800-12911800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
40	chr18:12910800-12911800	Bivalent Enhancer	Stomach Mucosa	stomach
41	chr18:12910800-12912000	Flanking Active TSS	Primary B cells from cord blood	blood
42	chr18:12910800-12912200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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