Variant report

Variant	rs72995678
Chromosome Location	chr11:75445180-75445181
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:75437719..75439941-chr11:75444285..75446896,2	K562	blood:
2	chr11:75444653..75447401-chr11:75455301..75457066,2	MCF-7	breast:
3	chr11:75434732..75436829-chr11:75444022..75446867,2	K562	blood:
4	chr11:75443297..75446374-chr11:75458769..75461045,3	MCF-7	breast:
5	chr11:75444770..75447014-chr11:75448691..75450973,4	K562	blood:

Extended variants
information (count: 62 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10160784	0.81[ASN][1000 genomes]
rs1017713	0.81[ASN][1000 genomes]
rs10219339	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10793124	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs10793125	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs10793126	0.93[ASN][1000 genomes]
rs10793127	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs10793128	0.84[AMR][1000 genomes]
rs10899105	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10899109	0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs10899110	0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs10899113	0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs10899116	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs10899119	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10899120	0.81[ASN][1000 genomes]
rs10899121	0.80[ASN][1000 genomes]
rs10899122	0.80[ASN][1000 genomes]
rs10899123	0.81[ASN][1000 genomes]
rs10899124	0.80[ASN][1000 genomes]
rs10899127	0.80[ASN][1000 genomes]
rs10899128	0.80[ASN][1000 genomes]
rs11236507	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11236508	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11236509	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11236511	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11236514	0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11236515	0.86[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11236516	0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11236517	0.88[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs11236518	0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11236519	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11236525	0.82[AMR][1000 genomes]
rs11236527	0.85[ASN][1000 genomes]
rs11236528	0.85[ASN][1000 genomes]
rs11236530	0.81[ASN][1000 genomes]
rs11236531	0.80[ASN][1000 genomes]
rs11236533	0.81[ASN][1000 genomes]
rs11236534	0.81[ASN][1000 genomes]
rs11501918	0.80[ASN][1000 genomes]
rs11821808	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11823869	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12222542	0.81[ASN][1000 genomes]
rs12222995	0.81[ASN][1000 genomes]
rs2008476	0.85[ASN][1000 genomes]
rs36016715	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs499974	0.81[ASN][1000 genomes]
rs531117	0.81[ASN][1000 genomes]
rs559355	0.81[ASN][1000 genomes]
rs58340821	0.81[ASN][1000 genomes]
rs58411334	0.85[ASN][1000 genomes]
rs600518	0.81[ASN][1000 genomes]
rs600626	0.81[ASN][1000 genomes]
rs60677263	0.81[ASN][1000 genomes]
rs643884	0.81[ASN][1000 genomes]
rs644361	0.81[ASN][1000 genomes]
rs7118293	0.80[ASN][1000 genomes]
rs7126727	0.80[ASN][1000 genomes]
rs72997616	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7944950	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7947512	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	esv3381903	chr11:75123498-75587233	Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
2	nsv897924	chr11:75424546-75678647	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs72995678	RP11-535A19.1	cis	Whole Blood	GTEx
rs72995678	DGAT2	cis	Whole Blood	GTEx

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75443200-75446000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr11:75443200-75446800	Enhancers	Liver	Liver
3	chr11:75443200-75448800	Enhancers	Fetal Intestine Large	intestine
4	chr11:75443400-75446800	Enhancers	Rectal Mucosa Donor 31	rectum
5	chr11:75443800-75445200	Enhancers	Stomach Mucosa	stomach
6	chr11:75443800-75446600	Enhancers	Lung	lung
7	chr11:75444000-75446000	Enhancers	Fetal Muscle Trunk	muscle
8	chr11:75444000-75446200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr11:75444000-75446800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr11:75444000-75446800	Enhancers	Right Ventricle	heart
11	chr11:75444000-75447000	Enhancers	Duodenum Mucosa	Duodenum
12	chr11:75444200-75445200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr11:75444200-75445200	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr11:75444200-75445200	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr11:75444200-75445800	Enhancers	HepG2	liver
16	chr11:75444200-75446400	Enhancers	Fetal Muscle Leg	muscle
17	chr11:75444200-75446600	Enhancers	Colonic Mucosa	Colon
18	chr11:75444200-75446800	Enhancers	Sigmoid Colon	Sigmoid Colon
19	chr11:75444200-75447000	Enhancers	Adipose Nuclei	Adipose
20	chr11:75444200-75447000	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr11:75444400-75445200	Enhancers	Brain Hippocampus Middle	brain
22	chr11:75444400-75445400	Enhancers	Colon Smooth Muscle	Colon
23	chr11:75444400-75446200	Enhancers	Stomach Smooth Muscle	stomach
24	chr11:75444400-75446800	Enhancers	Left Ventricle	heart
25	chr11:75444400-75446800	Enhancers	Right Atrium	heart
26	chr11:75444400-75447200	Enhancers	Fetal Heart	heart
27	chr11:75444600-75445200	Enhancers	GM12878-XiMat	blood
28	chr11:75444600-75445600	Weak transcription	Gastric	stomach
29	chr11:75444600-75447400	Enhancers	Fetal Intestine Small	intestine
30	chr11:75444800-75445200	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr11:75444800-75446000	Enhancers	Psoas Muscle	Psoas
32	chr11:75445000-75445200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr11:75445000-75445200	Enhancers	Esophagus	oesophagus
34	chr11:75445000-75445400	Bivalent Enhancer	Fetal Stomach	stomach
35	chr11:75445000-75446200	Active TSS	Rectal Smooth Muscle	rectum
36	chr11:75445000-75447400	Enhancers	Fetal Thymus	thymus

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links