Variant report

Variant	rs7411786
Chromosome Location	chr1:155515577-155515578
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:155515123..155516751-chr1:155518229..155520360,2	K562	blood:

Extended variants
information (count: 76 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10752611	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10796943	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10796945	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10796946	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10796947	0.94[ASN][1000 genomes]
rs10908465	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10908466	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10908467	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10908469	0.82[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs10908470	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10908471	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10908472	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10908479	0.84[EUR][1000 genomes]
rs11264370	0.82[EUR][1000 genomes]
rs11264371	0.87[ASN][1000 genomes]
rs11264372	0.87[ASN][1000 genomes]
rs11264374	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11264375	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11264380	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11264381	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11264383	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11264386	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11264387	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11264393	0.87[EUR][1000 genomes]
rs11264397	0.85[EUR][1000 genomes]
rs11264398	0.86[EUR][1000 genomes]
rs11582072	0.94[ASN][1000 genomes]
rs12022088	0.85[EUR][1000 genomes]
rs12025532	0.81[EUR][1000 genomes]
rs12026638	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12028416	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12030596	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12037824	0.85[ASN][1000 genomes]
rs12039893	0.85[EUR][1000 genomes]
rs12040100	0.86[EUR][1000 genomes]
rs12041534	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12046473	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12047626	0.81[EUR][1000 genomes]
rs12047756	0.84[EUR][1000 genomes]
rs12048286	0.85[AMR][1000 genomes]
rs12067371	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12079134	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12093350	0.80[EUR][1000 genomes]
rs12239100	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12724079	0.88[ASN][1000 genomes]
rs12740629	0.83[EUR][1000 genomes]
rs12746592	0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12758945	0.82[EUR][1000 genomes]
rs1325908	0.85[ASN][1000 genomes]
rs1360554	0.93[ASN][1000 genomes]
rs2025669	0.82[EUR][1000 genomes]
rs2048431	0.84[EUR][1000 genomes]
rs2175391	0.84[EUR][1000 genomes]
rs34124416	0.87[EUR][1000 genomes]
rs34620961	0.84[EUR][1000 genomes]
rs348186	0.83[EUR][1000 genomes]
rs35615695	0.96[ASN][1000 genomes]
rs3738590	0.84[EUR][1000 genomes]
rs3851912	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3892792	0.89[EUR][1000 genomes]
rs475550	0.84[EUR][1000 genomes]
rs4971095	0.86[EUR][1000 genomes]
rs56675301	0.83[EUR][1000 genomes]
rs6427278	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6672128	0.84[EUR][1000 genomes]
rs6684889	0.88[ASN][1000 genomes]
rs6688636	0.94[ASN][1000 genomes]
rs6696888	0.98[ASN][1000 genomes]
rs7521594	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529709	chr1:155154933-155757219	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	450 gene(s)	inside rSNPs	diseases
2	esv33869	chr1:155223283-155917961	Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
3	esv1799856	chr1:155305059-155534616	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	esv1795662	chr1:155305059-155540660	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
5	esv1803551	chr1:155334933-155522572	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv872468	chr1:155413304-155549562	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
7	esv3431739	chr1:155514331-155664183	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs7411786	GBAP1	cis	Artery Tibial	GTEx
rs7411786	FDPS	Cis_1M	lymphoblastoid	RTeQTL
rs7411786	RIT1	Cis_1M	lymphoblastoid	RTeQTL
rs7411786	GBA	cis	Esophagus Mucosa	GTEx

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155476400-155518200	Weak transcription	HMEC	breast
2	chr1:155478400-155518200	Weak transcription	Stomach Smooth Muscle	stomach
3	chr1:155483200-155524400	Weak transcription	Fetal Brain Female	brain
4	chr1:155483400-155528600	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr1:155489800-155516200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr1:155489800-155529400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr1:155491200-155521800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr1:155491400-155523400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr1:155491600-155516200	Weak transcription	NHEK	skin
10	chr1:155496600-155518400	Weak transcription	HSMM	muscle
11	chr1:155496600-155529800	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr1:155499600-155517000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr1:155500000-155516400	Weak transcription	NHDF-Ad	bronchial
14	chr1:155500000-155524400	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr1:155500200-155519800	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr1:155501800-155523200	Weak transcription	Brain Hippocampus Middle	brain
17	chr1:155502000-155516200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr1:155502000-155518000	Weak transcription	Brain Anterior Caudate	brain
19	chr1:155502000-155518800	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr1:155503400-155519600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr1:155503800-155523200	Weak transcription	Fetal Thymus	thymus
22	chr1:155505400-155518200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr1:155505600-155523400	Weak transcription	Placenta	Placenta
24	chr1:155506400-155523400	Weak transcription	Primary hematopoietic stem cells	blood
25	chr1:155506400-155529400	Weak transcription	Osteobl	bone
26	chr1:155506400-155529600	Weak transcription	Fetal Lung	lung
27	chr1:155506600-155516800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr1:155506800-155518000	Weak transcription	Fetal Muscle Trunk	muscle
29	chr1:155507000-155530200	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr1:155507400-155528000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr1:155509600-155517400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr1:155510200-155516000	Weak transcription	Primary B cells from cord blood	blood
33	chr1:155510600-155518000	Weak transcription	Right Atrium	heart
34	chr1:155510600-155530200	Weak transcription	Right Ventricle	heart
35	chr1:155510800-155523600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr1:155510800-155524400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr1:155510800-155528000	Weak transcription	Small Intestine	intestine
38	chr1:155510800-155528400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr1:155511000-155518000	Weak transcription	K562	blood
40	chr1:155511000-155529200	Weak transcription	Duodenum Mucosa	Duodenum
41	chr1:155511000-155529400	Weak transcription	HepG2	liver
42	chr1:155511400-155529800	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr1:155511800-155517000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr1:155511800-155518200	Weak transcription	Colon Smooth Muscle	Colon
45	chr1:155511800-155518600	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr1:155511800-155527600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr1:155511800-155528400	Weak transcription	Primary T cells from cord blood	blood
48	chr1:155512000-155518200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr1:155512000-155518400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr1:155513000-155516400	Strong transcription	Fetal Intestine Small	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links