Variant report

Variant	rs2279680
Chromosome Location	chr12:26146827-26146828
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

No data

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:26146815-26146865	HEK293	kidney:	embryo
2	chr12:26146815-26146865	LNCaP	prostate:	n/a
3	chr12:26146815-26146865	BE2_C	brain:	n/a
4	chr12:26146815-26146865	HepG2	liver:	n/a
5	chr12:26146815-26146865	AG04449	skin:	fetal
6	chr12:26146815-26146865	GM12892	blood:	n/a
7	chr12:26146815-26146865	IMR90	lung:	fetal
8	chr12:26146815-26146865	SK-N-SH_RA	brain:	n/a
9	chr12:26146815-26146865	Jurkat	blood:	n/a
10	chr12:26146815-26146865	MCF10A-Er-Src	breast:	n/a
11	chr12:26146815-26146865	AG10803	skin:	n/a
12	chr12:26146815-26146865	PFSK-1	brain:	n/a
13	chr12:26146815-26146865	SKMC	muscle:	n/a
14	chr12:26146815-26146865	Caco-2	colon:	n/a
15	chr12:26146815-26146865	GM12878	blood:	n/a
16	chr12:26146815-26146865	HCF	heart:	n/a
17	chr12:26146815-26146865	T-47D	breast:	n/a
18	chr12:26146815-26146865	HRE	kidney:	n/a
19	chr12:26146815-26146865	HIPEpiC	eye:	n/a
20	chr12:26146815-26146865	HUVEC	blood vessel:	n/a
21	chr12:26146815-26146865	K562	blood:	n/a
22	chr12:26146815-26146865	NT2-D1	testis:	n/a
23	chr12:26146815-26146865	HRPEpiC	eye:	n/a
24	chr12:26146815-26146865	Hela-S3	cervix:	n/a
25	chr12:26146815-26146865	HNPCEpiC	eye:	n/a
26	chr12:26146815-26146865	GM12891	blood:	n/a
27	chr12:26146815-26146865	HCM	heart:	n/a
28	chr12:26146815-26146865	Hepatocyte	liver:	n/a
29	chr12:26146815-26146865	BJ	skin:	n/a
30	chr12:26146815-26146865	AG04450	lung:	fetal
31	chr12:26146815-26146865	ProgFib	skin:	n/a
32	chr12:26146815-26146865	GM19239	blood:	n/a
33	chr12:26146815-26146865	MCF-7	breast:	n/a
34	chr12:26146815-26146865	RPTEC	kidney:	n/a
35	chr12:26146815-26146865	AG09319	gingival:	n/a
36	chr12:26146815-26146865	NHBE	bronchial:	n/a
37	chr12:26146815-26146865	AoSMC	blood vessel:	n/a
38	chr12:26146815-26146865	NHDF-neo	bronchial:	n/a
39	chr12:26146815-26146865	HRCEpiC	kidney:	n/a
40	chr12:26146815-26146865	AG09309	skin:	n/a
41	chr12:26146815-26146865	ovcar-3	ovarian:	n/a
42	chr12:26146815-26146865	HCPEpiC	choroid plexus:	n/a
43	chr12:26146815-26146865	SK-N-MC	brain:	n/a
44	chr12:26146815-26146865	H1-hESC	embryonic stem cell:	embryo
45	chr12:26146815-26146865	HL-60	blood:	n/a
46	chr12:26146815-26146865	SAEC	small airway:	n/a
47	chr12:26146815-26146865	CMK	blood:	n/a
48	chr12:26146815-26146865	U87	brain:	n/a
49	chr12:26146815-26146865	A549	lung:	n/a
50	chr12:26146815-26146865	HAEpiC	amniotic membrane:	n/a

No data

Variant related genes	Relation type
RASSF8	CpG island

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10505990	0.81[JPT][hapmap]
rs10842643	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs10842644	0.86[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs10842653	0.88[CHB][hapmap];0.90[JPT][hapmap];0.90[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11048360	0.85[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs11048372	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11048378	0.94[CHB][hapmap];0.90[JPT][hapmap];0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11048379	0.94[CHB][hapmap];0.90[JPT][hapmap];0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11048380	0.94[CHB][hapmap];0.90[JPT][hapmap];0.90[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11048381	0.89[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs11048382	0.89[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs11048383	0.87[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs11048384	0.87[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs11048389	0.85[AMR][1000 genomes]
rs11048390	0.83[AMR][1000 genomes]
rs1120064	1.00[CHB][hapmap];0.90[JPT][hapmap];0.89[AMR][1000 genomes]
rs1149804	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11561207	0.89[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs12227689	0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12578169	0.81[CHB][hapmap];0.89[JPT][hapmap]
rs12812200	0.81[CHB][hapmap];0.86[AMR][1000 genomes]
rs12812752	0.94[CHB][hapmap];0.90[JPT][hapmap];0.90[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12813641	0.89[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12818478	0.89[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12831248	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1390326	0.82[CHB][hapmap];0.90[JPT][hapmap]
rs1691889	1.00[CEU][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16929784	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs16929817	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs16929830	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs16929846	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16929940	0.82[CHB][hapmap];0.90[JPT][hapmap]
rs16929945	0.82[CHB][hapmap];0.90[JPT][hapmap]
rs16929950	0.82[CHB][hapmap];0.90[JPT][hapmap]
rs16929958	0.81[CHB][hapmap];0.89[JPT][hapmap]
rs2055180	0.94[CHB][hapmap];0.90[JPT][hapmap];0.86[AMR][1000 genomes]
rs2132317	0.94[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2343201	0.89[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2643941	0.81[CHB][hapmap];0.89[JPT][hapmap];0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs34294573	0.85[AMR][1000 genomes]
rs34595529	0.86[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs35924984	0.90[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs3803009	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61622173	0.87[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6487525	0.94[CHB][hapmap];0.90[JPT][hapmap];0.83[AMR][1000 genomes]
rs706524	0.82[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs706526	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs706531	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs706532	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs706533	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs706538	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7132590	0.89[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7134721	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs7298162	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs7953171	0.90[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7963603	0.94[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs7963856	0.85[AMR][1000 genomes]
rs829837	0.82[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs829987	0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs853656	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758300	chr12:25992331-26161116	Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
2	esv2759886	chr12:25992331-26161116	Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
3	nsv898931	chr12:26123345-26192936	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv522351	chr12:26127230-26149703	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 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	chr12:26117600-26150000	Weak transcription	Hela-S3	cervix
2	chr12:26134200-26148000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr12:26134400-26147800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr12:26139200-26147400	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr12:26139400-26150600	Weak transcription	Brain Angular Gyrus	brain
6	chr12:26139600-26160000	Weak transcription	Pancreas	Pancrea
7	chr12:26140200-26147600	Weak transcription	Ovary	ovary
8	chr12:26142000-26149000	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr12:26142200-26155600	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr12:26143800-26147400	Enhancers	Brain Anterior Caudate	brain
11	chr12:26143800-26151200	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr12:26143800-26151200	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr12:26144000-26151200	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr12:26144000-26151600	Enhancers	Colon Smooth Muscle	Colon
15	chr12:26144400-26148000	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr12:26144400-26148200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr12:26144400-26152200	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr12:26144600-26147000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr12:26144600-26148000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr12:26144800-26147600	Enhancers	NHDF-Ad	bronchial
21	chr12:26145000-26151400	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr12:26145200-26147600	Enhancers	NH-A	brain
23	chr12:26145200-26148200	Enhancers	Fetal Lung	lung
24	chr12:26145200-26149600	Enhancers	H1 Cell Line	embryonic stem cell
25	chr12:26145200-26151200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr12:26145200-26151400	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr12:26145200-26152600	Enhancers	Osteobl	bone
28	chr12:26145400-26147200	Weak transcription	HUVEC	blood vessel
29	chr12:26145400-26148200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr12:26145400-26150400	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr12:26145400-26150400	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr12:26145400-26150600	Weak transcription	Fetal Heart	heart
33	chr12:26145400-26151000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr12:26145600-26147600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr12:26145600-26147800	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr12:26145600-26151800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr12:26145600-26163000	Weak transcription	Fetal Muscle Leg	muscle
38	chr12:26145800-26147400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr12:26145800-26148400	Enhancers	Brain Substantia Nigra	brain
40	chr12:26145800-26150200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr12:26145800-26150600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr12:26145800-26152400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr12:26145800-26153400	Weak transcription	Right Atrium	heart
44	chr12:26146000-26147600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr12:26146000-26150200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr12:26146000-26150200	Weak transcription	NHEK	skin
47	chr12:26146200-26148000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
48	chr12:26146200-26148200	Enhancers	Psoas Muscle	Psoas
49	chr12:26146200-26151200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr12:26146200-26152200	Enhancers	HSMM	muscle

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