Variant report

Variant	rs7164581
Chromosome Location	chr15:40645098-40645099
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11636147	0.90[CEU][hapmap]
rs12905240	0.82[EUR][1000 genomes]
rs12913300	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16970633	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];0.91[TSI][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2289328	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs35565646	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35777573	0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3803359	0.91[CEU][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3803360	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56221586	0.82[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs71472433	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7164606	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[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	esv34145	chr15:40549617-40889824	Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv510660	chr15:40552906-40721883	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs7164581	DISP2	cis	Nerve Tibial	GTEx
rs7164581	DISP2	cis	Muscle Skeletal	GTEx
rs7164581	RP11-64K12.4	cis	Skin Sun Exposed Lower leg	GTEx
rs7164581	DISP2	cis	Esophagus Muscularis	GTEx
rs7164581	RP11-64K12.4	cis	Adipose Subcutaneous	GTEx
rs7164581	DISP2	cis	Adipose Subcutaneous	GTEx
rs7164581	DISP2	cis	Esophagus Mucosa	GTEx
rs7164581	CCDC32	Cis_1M	lymphoblastoid	RTeQTL
rs7164581	DISP2	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40633600-40645600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr15:40636400-40650000	Weak transcription	Right Atrium	heart
3	chr15:40636800-40646200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr15:40637200-40645600	Weak transcription	Brain Angular Gyrus	brain
5	chr15:40637400-40645400	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr15:40637400-40645800	Weak transcription	Brain Cingulate Gyrus	brain
7	chr15:40637400-40649600	Weak transcription	Spleen	Spleen
8	chr15:40641200-40645800	Weak transcription	Right Ventricle	heart
9	chr15:40641400-40646200	Weak transcription	Fetal Heart	heart
10	chr15:40641600-40649600	Weak transcription	Esophagus	oesophagus
11	chr15:40642400-40647000	Active TSS	Rectal Smooth Muscle	rectum
12	chr15:40642600-40645800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr15:40643000-40645400	Active TSS	Fetal Intestine Large	intestine
14	chr15:40643000-40646200	Active TSS	Duodenum Mucosa	Duodenum
15	chr15:40643200-40645800	Active TSS	Duodenum Smooth Muscle	Duodenum
16	chr15:40643400-40645200	Active TSS	Small Intestine	intestine
17	chr15:40643400-40646400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr15:40643400-40649800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr15:40643600-40645800	Weak transcription	K562	blood
20	chr15:40644200-40647200	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
21	chr15:40644200-40649800	Weak transcription	Primary T cells from cord blood	blood
22	chr15:40644600-40645400	Flanking Active TSS	Stomach Mucosa	stomach
23	chr15:40644600-40646000	Transcr. at gene 5' and 3'	Sigmoid Colon	Sigmoid Colon
24	chr15:40644600-40647000	Transcr. at gene 5' and 3'	Colonic Mucosa	Colon
25	chr15:40644600-40647200	Transcr. at gene 5' and 3'	Rectal Mucosa Donor 31	rectum
26	chr15:40644600-40647600	Transcr. at gene 5' and 3'	Rectal Mucosa Donor 29	rectum
27	chr15:40644600-40648800	Enhancers	Fetal Brain Male	brain
28	chr15:40644800-40645200	Enhancers	Brain Germinal Matrix	brain
29	chr15:40644800-40645800	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr15:40644800-40646000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr15:40644800-40647000	Enhancers	Liver	Liver
32	chr15:40644800-40647600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr15:40645000-40645200	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr15:40645000-40645400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr15:40645000-40645400	Weak transcription	Fetal Brain Female	brain
36	chr15:40645000-40646200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr15:40645000-40646200	Weak transcription	Gastric	stomach

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