Variant report

Variant	rs10129168
Chromosome Location	chr14:24906064-24906065
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:24)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:24 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:24801605..24806320-chr14:24904693..24909744,5	K562	blood:
2	chr14:24834663..24835486-chr14:24905602..24906473,4	MCF-7	breast:
3	chr14:24766500..24769318-chr14:24904767..24907330,3	MCF-7	breast:
4	chr14:24816528..24849574-chr14:24893305..24914155,145	MCF-7	breast:
5	chr14:24789439..24822082-chr14:24898039..24913135,99	MCF-7	breast:
6	chr14:24905848..24906564-chr14:25147935..25148721,2	MCF-7	breast:
7	chr14:24791358..24808812-chr14:24895309..24913599,55	K562	blood:
8	chr14:24704769..24706424-chr14:24904914..24907599,2	MCF-7	breast:
9	chr14:24802504..24803506-chr14:24905350..24906802,10	MCF-7	breast:
10	chr14:24865931..24867961-chr14:24906005..24908600,2	MCF-7	breast:
11	chr14:24655837..24658282-chr14:24904503..24906148,2	K562	blood:
12	chr14:24864264..24865862-chr14:24905132..24908041,2	MCF-7	breast:
13	chr14:24787946..24789966-chr14:24905926..24907648,2	K562	blood:
14	chr14:24802185..24803542-chr14:24905287..24906769,13	MCF-7	breast:
15	chr14:24710779..24713776-chr14:24905054..24908249,5	MCF-7	breast:
16	chr14:24827418..24850855-chr14:24894884..24913772,127	MCF-7	breast:
17	chr14:24781460..24810019-chr14:24892340..24914262,110	MCF-7	breast:
18	chr14:24483262..24483795-chr14:24906005..24906586,2	K562	blood:
19	chr14:24801279..24801856-chr14:24905358..24906438,3	K562	blood:
20	chr14:24769037..24771886-chr14:24904413..24906460,2	MCF-7	breast:
21	chr14:24834374..24835487-chr14:24905615..24906819,12	MCF-7	breast:
22	chr14:24802540..24803456-chr14:24905606..24906604,3	K562	blood:
23	chr14:24777042..24777554-chr14:24905532..24906095,2	MCF-7	breast:
24	chr14:24775299..24777826-chr14:24904340..24907258,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000092330	Chromatin interaction
ENSG00000129465	Chromatin interaction
ENSG00000100938	Chromatin interaction
ENSG00000213903	Chromatin interaction
ENSG00000207141	Chromatin interaction
ENSG00000196497	Chromatin interaction
ENSG00000100968	Chromatin interaction
ENSG00000136305	Chromatin interaction
ENSG00000157379	Chromatin interaction
ENSG00000129467	Chromatin interaction
ENSG00000196943	Chromatin interaction
ENSG00000258973	Chromatin interaction

Extended variants
information (count: 67 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10083368	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10083369	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10083379	1.00[CHB][hapmap];0.87[JPT][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10083382	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10083509	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10129753	0.97[ASN][1000 genomes]
rs10133116	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs10133998	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10140911	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10144287	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10146995	0.99[ASN][1000 genomes]
rs1043831	0.87[JPT][hapmap]
rs1043839	0.87[JPT][hapmap]
rs11158703	0.87[JPT][hapmap]
rs11158705	0.87[JPT][hapmap]
rs11538255	1.00[ASN][1000 genomes]
rs11538256	1.00[ASN][1000 genomes]
rs11628143	0.87[JPT][hapmap]
rs12433369	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12882878	0.88[JPT][hapmap]
rs12884447	0.87[JPT][hapmap]
rs17103735	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17103743	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17103869	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs17103960	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs17104012	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs1951137	0.88[CHB][hapmap];0.93[JPT][hapmap]
rs1956896	0.87[JPT][hapmap]
rs1956898	0.87[JPT][hapmap]
rs1956903	0.83[AFR][1000 genomes]
rs1956904	0.87[JPT][hapmap]
rs1956921	0.88[CHB][hapmap];0.86[JPT][hapmap]
rs2073335	0.88[CHB][hapmap];0.93[JPT][hapmap]
rs2273628	0.87[JPT][hapmap]
rs2332333	0.88[JPT][hapmap]
rs3211056	0.87[JPT][hapmap]
rs3742521	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3742522	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3809	0.87[JPT][hapmap]
rs3814810	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4981518	0.87[JPT][hapmap]
rs4981519	0.87[JPT][hapmap]
rs4982913	0.86[JPT][hapmap]
rs4982914	0.87[JPT][hapmap]
rs4982917	0.87[JPT][hapmap]
rs4982920	0.86[JPT][hapmap]
rs55953421	0.83[ASN][1000 genomes]
rs57120899	0.84[ASN][1000 genomes]
rs57259303	0.91[ASN][1000 genomes]
rs59448251	0.94[ASN][1000 genomes]
rs60777821	0.84[ASN][1000 genomes]
rs712487	0.87[JPT][hapmap]
rs7142374	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs7143327	0.88[JPT][hapmap]
rs7144118	0.88[JPT][hapmap]
rs7149743	0.87[JPT][hapmap]
rs7157349	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs73593291	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73593299	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs737245	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs737246	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs737247	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs737248	0.88[JPT][hapmap]
rs9323503	0.84[ASN][1000 genomes]
rs966493	0.87[JPT][hapmap]

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	nsv1041336	chr14:24726564-25527319	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv542000	chr14:24726564-25527319	Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10129168	SDR39U1	cis	Muscle Skeletal	GTEx

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:24900200-24906600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr14:24900200-24911000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr14:24900600-24907800	Weak transcription	Small Intestine	intestine
4	chr14:24900600-24910600	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr14:24901000-24906200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr14:24901000-24906600	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr14:24901000-24906800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr14:24901000-24908600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr14:24901400-24906200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr14:24901400-24906400	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr14:24901400-24906800	Weak transcription	K562	blood
12	chr14:24901400-24910200	Strong transcription	Aorta	Aorta
13	chr14:24901600-24906200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr14:24901600-24906200	Strong transcription	Lung	lung
15	chr14:24901600-24906800	Weak transcription	Fetal Brain Male	brain
16	chr14:24901600-24907200	Weak transcription	Hela-S3	cervix
17	chr14:24901600-24909800	Weak transcription	Fetal Heart	heart
18	chr14:24901600-24910400	Strong transcription	Placenta Amnion	Placenta Amnion
19	chr14:24901800-24909000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr14:24901800-24910000	Strong transcription	Sigmoid Colon	Sigmoid Colon
21	chr14:24902000-24906200	Strong transcription	Spleen	Spleen
22	chr14:24902000-24906600	Strong transcription	Esophagus	oesophagus
23	chr14:24902000-24909200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr14:24902200-24909400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr14:24902400-24906200	Strong transcription	Duodenum Mucosa	Duodenum
26	chr14:24902400-24906800	Weak transcription	Brain Germinal Matrix	brain
27	chr14:24902400-24907200	Weak transcription	Fetal Brain Female	brain
28	chr14:24902400-24908600	Strong transcription	HMEC	breast
29	chr14:24902400-24909400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr14:24902400-24909800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr14:24902400-24910200	Strong transcription	A549	lung
32	chr14:24902400-24910600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr14:24902800-24906800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr14:24903000-24906200	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr14:24903000-24910000	Weak transcription	Psoas Muscle	Psoas
36	chr14:24903000-24910000	Strong transcription	NHEK	skin
37	chr14:24903400-24906200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr14:24903400-24906800	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr14:24903400-24909600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr14:24903600-24906200	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr14:24903600-24906400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr14:24903600-24906800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr14:24903800-24908600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
44	chr14:24903800-24909000	Strong transcription	Pancreas	Pancrea
45	chr14:24904000-24906400	Genic enhancers	Stomach Mucosa	stomach
46	chr14:24904000-24907200	Genic enhancers	Dnd41	blood
47	chr14:24904000-24908200	Genic enhancers	Liver	Liver
48	chr14:24904200-24906400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
49	chr14:24904200-24910200	Genic enhancers	Skeletal Muscle Female	skeletal muscle
50	chr14:24904400-24907800	Genic enhancers	Stomach Smooth Muscle	stomach

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