Variant report

Variant	rs2071053
Chromosome Location	chr1:155265177-155265178
allele	C/T
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	chr1:155263792..155265801-chr1:155268353..155270407,2	K562	blood:
2	chr1:155259968..155262452-chr1:155264201..155267047,3	MCF-7	breast:
3	chr1:155230119..155233614-chr1:155262983..155268235,5	MCF-7	breast:
4	chr1:155259970..155262506-chr1:155264219..155265784,2	MCF-7	breast:
5	chr1:155264416..155266648-chr1:155270468..155272044,2	K562	blood:
6	chr1:155245531..155248491-chr1:155261533..155265348,4	MCF-7	breast:
7	chr1:155251967..155253659-chr1:155265163..155267327,2	K562	blood:
8	chr1:155264765..155268361-chr1:155281187..155284828,3	K562	blood:
9	chr1:155260049..155265292-chr1:155266559..155270522,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000143627	Chromatin interaction
ENSG00000176444	Chromatin interaction
ENSG00000116521	Chromatin interaction
ENSG00000143630	Chromatin interaction

Extended variants
information (count: 103 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs10128085	0.84[EUR][1000 genomes]
rs1045253	0.81[ASN][1000 genomes]
rs1046188	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1052176	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1052177	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1076556	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1078699	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10796940	0.81[ASN][1000 genomes]
rs10796941	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10908459	0.82[ASN][1000 genomes]
rs10908461	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10908462	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10908463	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11264343	0.81[ASN][1000 genomes]
rs11264345	0.82[ASN][1000 genomes]
rs11264346	0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11264347	0.80[EUR][1000 genomes]
rs11264348	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11264349	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11264351	0.90[ASN][1000 genomes]
rs11264352	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11264353	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11264354	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11264355	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11264357	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11264358	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11264359	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11264361	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1142287	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11577338	0.95[ASN][1000 genomes]
rs12032720	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12034326	0.83[ASN][1000 genomes]
rs12042020	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12044063	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12049375	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12067675	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12407919	0.81[ASN][1000 genomes]
rs12563994	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12723761	0.80[ASN][1000 genomes]
rs12724449	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12732972	0.82[ASN][1000 genomes]
rs12748155	0.86[ASN][1000 genomes]
rs12749306	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1546818	0.89[ASN][1000 genomes]
rs1800438	0.82[ASN][1000 genomes]
rs1807042	0.85[ASN][1000 genomes]
rs2009578	0.82[ASN][1000 genomes]
rs2072647	0.88[ASN][1000 genomes]
rs2075566	0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2075569	0.82[ASN][1000 genomes]
rs2236863	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2236864	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2242576	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2242577	0.93[ASN][1000 genomes]
rs2297480	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2361536	0.88[ASN][1000 genomes]
rs2361543	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3020781	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34906309	0.89[ASN][1000 genomes]
rs3754485	0.82[ASN][1000 genomes]
rs3762272	0.92[ASN][1000 genomes]
rs3768566	0.81[ASN][1000 genomes]
rs3814318	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3814319	0.89[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4043	0.81[ASN][1000 genomes]
rs4620533	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4971072	0.83[ASN][1000 genomes]
rs56310840	0.81[ASN][1000 genomes]
rs59062514	0.86[ASN][1000 genomes]
rs6672284	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs734073	0.89[ASN][1000 genomes]
rs734074	0.88[ASN][1000 genomes]
rs741756	0.86[ASN][1000 genomes]
rs7520184	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7524950	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7534795	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7543234	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7549276	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7554780	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs762488	0.82[ASN][1000 genomes]
rs8177968	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8847	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs932972	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9628662	0.82[ASN][1000 genomes]
rs9729564	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831614	chr1:155094978-155275031	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	434 gene(s)	inside rSNPs	diseases
2	esv2757756	chr1:155094978-155314807	Bivalent Enhancer Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	452 gene(s)	inside rSNPs	diseases
3	esv2758971	chr1:155094978-155314807	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	452 gene(s)	inside rSNPs	diseases
4	nsv872457	chr1:155135335-155310443	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	407 gene(s)	inside rSNPs	diseases
5	nsv831625	chr1:155145634-155313409	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	407 gene(s)	inside rSNPs	diseases
6	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
7	esv1832331	chr1:155213136-155271366	Strong transcription Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
8	nsv831636	chr1:155219223-155444864	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
9	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
10	esv1826924	chr1:155230444-155271566	Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
11	esv1830821	chr1:155230610-155265661	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
12	esv1831955	chr1:155230610-155265661	Genic enhancers Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
13	esv1832100	chr1:155230622-155269896	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
14	esv1827811	chr1:155230644-155271366	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
15	esv1827924	chr1:155230644-155271366	Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
16	esv1831963	chr1:155239116-155267459	Flanking Active TSS Genic enhancers Weak transcription Enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
17	esv1830532	chr1:155239128-155267471	Flanking Active TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
18	nsv872466	chr1:155259025-155269991	Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs2071053	GBA	cis	Esophagus Mucosa	GTEx
rs2071053	GBAP1	cis	Artery Tibial	GTEx
rs2071053	RIT1	Cis_1M	lymphoblastoid	RTeQTL
rs2071053	FDPS	Cis_1M	lymphoblastoid	RTeQTL
rs2071053	PKLR	cis	Nerve Tibial	GTEx
rs2071053	THBS3	cis	Whole Blood	GTEx
rs2071053	GBAP1	cis	Thyroid	GTEx

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155264000-155266000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr1:155264200-155265600	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
3	chr1:155264200-155265600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
4	chr1:155264200-155265600	Bivalent Enhancer	Placenta	Placenta
5	chr1:155264200-155265800	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr1:155264200-155266000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
7	chr1:155264400-155265600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
8	chr1:155264400-155265600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
9	chr1:155264400-155265600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
10	chr1:155264400-155265600	Enhancers	Gastric	stomach
11	chr1:155264400-155265800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr1:155264400-155266000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
13	chr1:155264400-155266600	Weak transcription	HepG2	liver
14	chr1:155264600-155265200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr1:155264600-155265200	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr1:155264600-155265200	Bivalent Enhancer	Esophagus	oesophagus
17	chr1:155264600-155265200	Bivalent Enhancer	Ovary	ovary
18	chr1:155264600-155265200	Bivalent Enhancer	Stomach Smooth Muscle	stomach
19	chr1:155264600-155265400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
20	chr1:155264600-155265400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
21	chr1:155264600-155265400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr1:155264600-155265600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr1:155264600-155265600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr1:155264600-155265600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr1:155264600-155265600	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
26	chr1:155264600-155265600	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
27	chr1:155264600-155265600	Bivalent Enhancer	Stomach Mucosa	stomach
28	chr1:155264600-155265800	Bivalent Enhancer	Fetal Intestine Large	intestine
29	chr1:155264600-155266000	Active TSS	H9 Cell Line	embryonic stem cell
30	chr1:155264600-155266000	Bivalent Enhancer	Fetal Intestine Small	intestine
31	chr1:155264600-155266400	Strong transcription	Liver	Liver
32	chr1:155264800-155265200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
33	chr1:155264800-155265200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr1:155264800-155265200	Bivalent Enhancer	Primary hematopoietic stem cells	blood
35	chr1:155264800-155265200	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
36	chr1:155264800-155265200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
37	chr1:155264800-155265200	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
38	chr1:155264800-155265200	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
39	chr1:155264800-155265200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr1:155264800-155265200	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
41	chr1:155264800-155265200	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
42	chr1:155264800-155265200	Bivalent/Poised TSS	Brain Anterior Caudate	brain
43	chr1:155264800-155265400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
44	chr1:155264800-155265400	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr1:155264800-155265400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
46	chr1:155264800-155265400	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
47	chr1:155264800-155265400	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr1:155264800-155265400	Bivalent Enhancer	Brain Hippocampus Middle	brain
49	chr1:155264800-155265400	Bivalent Enhancer	Fetal Stomach	stomach
50	chr1:155264800-155265400	Enhancers	Lung	lung

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