Variant report

Variant	rs12047756
Chromosome Location	chr1:155624944-155624945
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:155624881..155626897-chr1:155647501..155650003,2	K562	blood:
2	chr1:155619254..155623405-chr1:155624294..155627558,5	K562	blood:
3	chr1:155623481..155626376-chr1:155629925..155633670,3	K562	blood:
4	chr1:155619254..155623405-chr1:155624023..155627558,4	K562	blood:

Variant related genes	Relation type
ENSG00000163374	Chromatin interaction
ENSG00000246203	Chromatin interaction

Extended variants
information (count: 77 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10752611	0.81[CHB][hapmap];0.91[JPT][hapmap];0.84[EUR][1000 genomes]
rs10796945	0.81[CHB][hapmap];0.91[JPT][hapmap]
rs10908469	0.92[JPT][hapmap]
rs10908470	0.81[CHB][hapmap];0.91[JPT][hapmap];0.88[EUR][1000 genomes]
rs10908471	0.92[JPT][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10908472	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10908479	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10908481	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs11264380	0.81[CHB][hapmap];0.91[JPT][hapmap];0.84[EUR][1000 genomes]
rs11264381	0.85[CHB][hapmap];0.91[JPT][hapmap];0.84[EUR][1000 genomes]
rs11264383	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11264386	0.92[EUR][1000 genomes]
rs11264387	0.81[CHB][hapmap];0.93[EUR][1000 genomes]
rs11264393	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11264397	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11264398	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12022088	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12030596	0.88[EUR][1000 genomes]
rs12035524	0.90[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12039893	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12040100	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12047626	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12079134	0.92[JPT][hapmap]
rs12093350	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12143948	0.81[CHB][hapmap];0.91[JPT][hapmap]
rs12724079	0.81[CHB][hapmap];0.91[JPT][hapmap]
rs12740629	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12744132	0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12746592	0.81[CHB][hapmap];0.91[JPT][hapmap];0.82[EUR][1000 genomes]
rs12758945	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1360554	0.81[CHB][hapmap];0.91[JPT][hapmap]
rs1556488	0.81[JPT][hapmap]
rs2048431	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2175391	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2666826	0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs28662267	0.81[EUR][1000 genomes]
rs34124416	0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34620961	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34632540	0.83[ASN][1000 genomes]
rs348186	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs348196	0.90[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35615695	0.81[CHB][hapmap];0.91[JPT][hapmap]
rs3738590	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3851912	0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3892792	0.81[CHB][hapmap];0.92[JPT][hapmap];0.91[EUR][1000 genomes]
rs4550031	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs475550	0.95[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4971095	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6427278	0.91[EUR][1000 genomes]
rs6427286	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs644853	0.84[JPT][hapmap]
rs6672128	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6684889	0.82[JPT][hapmap]
rs6688636	0.81[CHB][hapmap];0.91[JPT][hapmap]
rs6696888	0.81[CHB][hapmap];0.91[JPT][hapmap]
rs670876	0.91[CHB][hapmap];0.80[ASN][1000 genomes]
rs678157	0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs708611	0.85[CHB][hapmap]
rs7411786	0.84[EUR][1000 genomes]
rs7521594	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7541060	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs821551	0.91[JPT][hapmap]
rs822490	0.80[CHB][hapmap];0.82[JPT][hapmap]
rs860295	0.85[CHB][hapmap];0.82[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:13 , 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	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
4	esv3388968	chr1:155532335-155658278	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers 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 target site	55 gene(s)	inside rSNPs	diseases
5	nsv1002390	chr1:155553423-155706930	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
6	nsv428246	chr1:155558197-155785831	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
7	nsv436522	chr1:155559513-155674249	Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
8	nsv946419	chr1:155561148-155630744	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
9	esv3360339	chr1:155562157-155683127	Active TSS Flanking Active TSS Genic enhancers Enhancers Strong transcription ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
10	nsv547965	chr1:155563152-155688600	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
11	esv3381327	chr1:155582853-155718436	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
12	esv3436971	chr1:155618172-155733386	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS 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	32 gene(s)	inside rSNPs	diseases
13	esv3338099	chr1:155618190-155733359	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs12047756	FDPS	Cis_1M	lymphoblastoid	RTeQTL
rs12047756	GBA	cis	Esophagus Mucosa	GTEx
rs12047756	RIT1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155615400-155628600	Weak transcription	Right Ventricle	heart
2	chr1:155615600-155628400	Weak transcription	Left Ventricle	heart
3	chr1:155615600-155628400	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr1:155616000-155628200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr1:155616400-155628800	Weak transcription	Small Intestine	intestine
6	chr1:155617000-155628400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr1:155617800-155637000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr1:155618600-155628000	Weak transcription	Fetal Thymus	thymus
9	chr1:155618800-155627000	Weak transcription	Fetal Stomach	stomach
10	chr1:155618800-155628000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr1:155618800-155628000	Weak transcription	Brain Germinal Matrix	brain
12	chr1:155618800-155628400	Weak transcription	Colon Smooth Muscle	Colon
13	chr1:155618800-155628400	Weak transcription	Fetal Lung	lung
14	chr1:155618800-155628800	Weak transcription	Colonic Mucosa	Colon
15	chr1:155618800-155631800	Weak transcription	K562	blood
16	chr1:155619000-155627600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr1:155619000-155628000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr1:155619000-155628000	Weak transcription	Liver	Liver
19	chr1:155620400-155627800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr1:155620600-155628200	Weak transcription	Ovary	ovary
21	chr1:155620800-155628200	Weak transcription	Brain Hippocampus Middle	brain
22	chr1:155620800-155628400	Weak transcription	Psoas Muscle	Psoas
23	chr1:155621000-155628200	Weak transcription	Fetal Brain Male	brain
24	chr1:155621000-155628200	Weak transcription	Lung	lung
25	chr1:155621200-155628000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr1:155621400-155628200	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr1:155621400-155628200	Weak transcription	Duodenum Mucosa	Duodenum
28	chr1:155621600-155625000	Weak transcription	Brain Cingulate Gyrus	brain
29	chr1:155621600-155628000	Weak transcription	Adipose Nuclei	Adipose
30	chr1:155621600-155628000	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr1:155621600-155628000	Weak transcription	Stomach Smooth Muscle	stomach
32	chr1:155621600-155628200	Weak transcription	Fetal Brain Female	brain
33	chr1:155621600-155628400	Weak transcription	Rectal Smooth Muscle	rectum
34	chr1:155621600-155628800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr1:155621800-155628200	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr1:155621800-155628400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr1:155621800-155628400	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr1:155621800-155628800	Weak transcription	Aorta	Aorta
39	chr1:155622000-155625400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr1:155622000-155627200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr1:155622000-155628000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr1:155622000-155628000	Weak transcription	Esophagus	oesophagus
43	chr1:155622000-155628000	Weak transcription	Placenta	Placenta
44	chr1:155622000-155628400	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr1:155622000-155628400	Weak transcription	NH-A	brain
46	chr1:155622200-155627600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr1:155622200-155628000	Weak transcription	Primary hematopoietic stem cells	blood
48	chr1:155622200-155628000	Weak transcription	HSMM	muscle
49	chr1:155622200-155628200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr1:155622200-155628200	Weak transcription	HSMMtube	muscle

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