Variant report

Variant	rs7181230
Chromosome Location	chr15:40360741-40360742
allele	A/G
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:40357794..40362220-chr15:40389488..40392528,3	MCF-7	breast:
2	chr15:40335759..40338053-chr15:40359943..40362529,2	MCF-7	breast:
3	chr15:40352649..40354633-chr15:40358305..40361225,2	K562	blood:
4	chr15:40359476..40364618-chr15:40393648..40401523,12	MCF-7	breast:
5	chr15:40358773..40361037-chr15:40403847..40405701,2	K562	blood:
6	chr15:40347622..40350963-chr15:40359226..40362584,4	MCF-7	breast:
7	chr15:40359906..40361762-chr15:40381062..40383010,2	MCF-7	breast:
8	chr15:40360380..40363301-chr15:40385509..40387691,4	MCF-7	breast:
9	chr15:40355457..40358717-chr15:40360057..40366974,8	K562	blood:

No data

Variant related genes	Relation type
ENSG00000104081	Chromatin interaction
ENSG00000248508	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs11638521	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12440899	0.82[CHB][hapmap];0.89[JPT][hapmap]
rs12441483	0.82[CHB][hapmap];0.89[JPT][hapmap]
rs16970286	0.93[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs16970291	0.87[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs16970319	0.81[CHB][hapmap];0.89[JPT][hapmap];0.82[ASN][1000 genomes]
rs17723133	0.93[ASW][hapmap];0.87[CEU][hapmap]
rs28361302	0.81[ASN][1000 genomes]
rs28371998	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs28379715	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28479712	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28534747	0.88[EUR][1000 genomes]
rs28537079	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28587891	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28605815	0.80[ASN][1000 genomes]
rs28620926	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3923235	0.87[CEU][hapmap]
rs4923850	0.89[JPT][hapmap]
rs4923852	0.82[EUR][1000 genomes]
rs4924410	0.87[CEU][hapmap]
rs4924412	0.82[CHB][hapmap];0.89[JPT][hapmap]
rs4924413	0.87[CEU][hapmap]
rs4924414	0.82[CHB][hapmap]
rs4924415	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4924416	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62004158	0.80[AFR][1000 genomes]
rs7183977	0.95[CEU][hapmap];0.84[TSI][hapmap];0.89[EUR][1000 genomes]
rs7497289	0.80[CEU][hapmap]
rs749749	0.82[CHB][hapmap];0.89[JPT][hapmap]
rs8026641	0.87[CEU][hapmap]
rs9972424	1.00[CEU][hapmap];0.94[CHB][hapmap];0.93[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9972442	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][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	nsv530816	chr15:40003136-40586792	Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv428635	chr15:40274500-40436293	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Dehydroepiandrosterone sulphate levels	21533175	GWAS catalog

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7181230	SRP14	cis	parietal	SCAN

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40346000-40367400	Weak transcription	K562	blood
2	chr15:40346200-40372800	Weak transcription	Fetal Kidney	kidney
3	chr15:40347600-40361000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr15:40348000-40361000	Weak transcription	Fetal Intestine Large	intestine
5	chr15:40348400-40361000	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr15:40348600-40361000	Weak transcription	Brain Cingulate Gyrus	brain
7	chr15:40348600-40365800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr15:40348800-40365400	Weak transcription	Primary hematopoietic stem cells	blood
9	chr15:40352000-40361000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr15:40353800-40361000	Weak transcription	Fetal Intestine Small	intestine
11	chr15:40353800-40361600	Weak transcription	Gastric	stomach
12	chr15:40355800-40361200	Weak transcription	Brain Substantia Nigra	brain
13	chr15:40355800-40361400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr15:40356200-40361000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr15:40356200-40361600	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr15:40356600-40361000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr15:40356600-40361000	Weak transcription	Colonic Mucosa	Colon
18	chr15:40356600-40361000	Weak transcription	Esophagus	oesophagus
19	chr15:40356600-40361000	Weak transcription	Rectal Smooth Muscle	rectum
20	chr15:40356600-40361400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr15:40356600-40361400	Weak transcription	Placenta	Placenta
22	chr15:40356600-40361400	Weak transcription	Right Atrium	heart
23	chr15:40356600-40361400	Weak transcription	Right Ventricle	heart
24	chr15:40356600-40362000	Weak transcription	Brain Anterior Caudate	brain
25	chr15:40356800-40361000	Weak transcription	Colon Smooth Muscle	Colon
26	chr15:40357000-40361000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr15:40357000-40361000	Weak transcription	Fetal Stomach	stomach
28	chr15:40357000-40361600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr15:40357200-40361000	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr15:40357200-40361000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr15:40357200-40361000	Weak transcription	NHLF	lung
32	chr15:40357200-40361200	Weak transcription	Fetal Brain Male	brain
33	chr15:40357400-40360800	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr15:40357400-40360800	Weak transcription	HUVEC	blood vessel
35	chr15:40357400-40361000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr15:40357400-40361000	Weak transcription	Spleen	Spleen
37	chr15:40357400-40361000	Weak transcription	Dnd41	blood
38	chr15:40357400-40361600	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr15:40357400-40361800	Weak transcription	Brain Angular Gyrus	brain
40	chr15:40357600-40361000	Weak transcription	NH-A	brain
41	chr15:40357600-40361000	Weak transcription	NHDF-Ad	bronchial
42	chr15:40357600-40361000	Weak transcription	Osteobl	bone
43	chr15:40357600-40361400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr15:40357600-40361400	Weak transcription	Primary B cells from cord blood	blood
45	chr15:40357600-40361400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr15:40357600-40361400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr15:40357600-40365800	Weak transcription	Primary T cells from cord blood	blood
48	chr15:40357800-40361000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr15:40358000-40361600	Enhancers	Hela-S3	cervix
50	chr15:40358000-40362600	Enhancers	A549	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links