Variant report

Variant	rs11264374
Chromosome Location	chr1:155421512-155421513
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:155419991..155421910-chr1:155424628..155426793,2	MCF-7	breast:

Extended variants
information (count: 62 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10752611	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10796943	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10796944	0.87[AMR][1000 genomes]
rs10796945	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10796946	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10796947	0.93[ASN][1000 genomes]
rs10908465	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10908466	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10908467	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10908469	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10908470	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10908471	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10908472	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11264366	0.87[EUR][1000 genomes]
rs11264367	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11264369	0.84[EUR][1000 genomes]
rs11264370	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11264371	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11264372	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11264375	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11264380	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11264381	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11264383	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11264386	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11264387	0.80[AMR][1000 genomes]
rs11582072	0.93[ASN][1000 genomes]
rs12025532	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12026638	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12028416	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12030596	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12037824	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12041534	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12046473	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12067371	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12079134	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12081067	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12239100	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12239114	0.81[EUR][1000 genomes]
rs12724079	0.99[ASN][1000 genomes]
rs12746592	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1325908	0.96[ASN][1000 genomes]
rs1360554	0.92[ASN][1000 genomes]
rs2025669	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35615695	0.87[ASN][1000 genomes]
rs5005770	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56675301	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6684889	0.99[ASN][1000 genomes]
rs6688636	0.93[ASN][1000 genomes]
rs66923802	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6696888	0.89[ASN][1000 genomes]
rs71517782	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7411786	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7416976	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	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
3	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
4	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
5	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
6	esv1795478	chr1:155334933-155510824	Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	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
8	esv1800974	chr1:155367680-155510824	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	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

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs11264374	FDPS	Cis_1M	lymphoblastoid	RTeQTL
rs11264374	GBA	cis	Esophagus Mucosa	GTEx
rs11264374	RIT1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155362200-155433400	Weak transcription	Psoas Muscle	Psoas
2	chr1:155362800-155442400	Weak transcription	Right Ventricle	heart
3	chr1:155364400-155450800	Weak transcription	HUVEC	blood vessel
4	chr1:155367400-155426000	Weak transcription	Stomach Mucosa	stomach
5	chr1:155384800-155425600	Weak transcription	Colon Smooth Muscle	Colon
6	chr1:155392800-155422800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr1:155402400-155426800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr1:155404600-155441400	Weak transcription	Esophagus	oesophagus
9	chr1:155407600-155425800	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr1:155408400-155428000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr1:155408600-155444200	Weak transcription	Fetal Brain Male	brain
12	chr1:155408600-155448400	Weak transcription	Fetal Brain Female	brain
13	chr1:155408800-155422400	Weak transcription	Left Ventricle	heart
14	chr1:155408800-155422400	Weak transcription	Pancreas	Pancrea
15	chr1:155408800-155425000	Weak transcription	Brain Cingulate Gyrus	brain
16	chr1:155408800-155425200	Weak transcription	Brain Hippocampus Middle	brain
17	chr1:155408800-155425200	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr1:155408800-155425200	Weak transcription	Brain Substantia Nigra	brain
19	chr1:155408800-155425200	Weak transcription	HSMMtube	muscle
20	chr1:155408800-155425200	Weak transcription	NHDF-Ad	bronchial
21	chr1:155408800-155425400	Weak transcription	Brain Angular Gyrus	brain
22	chr1:155408800-155425400	Weak transcription	Brain Anterior Caudate	brain
23	chr1:155408800-155425400	Weak transcription	Rectal Smooth Muscle	rectum
24	chr1:155408800-155425600	Weak transcription	HepG2	liver
25	chr1:155408800-155425800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr1:155408800-155425800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr1:155408800-155428200	Weak transcription	Gastric	stomach
28	chr1:155408800-155435400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr1:155408800-155437000	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr1:155408800-155441000	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr1:155408800-155441000	Weak transcription	Stomach Smooth Muscle	stomach
32	chr1:155408800-155441200	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr1:155408800-155447600	Weak transcription	Aorta	Aorta
34	chr1:155409000-155422200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr1:155409000-155422400	Weak transcription	Duodenum Mucosa	Duodenum
36	chr1:155409000-155425000	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr1:155409000-155427400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr1:155409000-155434200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr1:155409200-155427000	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr1:155409400-155425800	Weak transcription	NHLF	lung
41	chr1:155409400-155426800	Weak transcription	Spleen	Spleen
42	chr1:155409400-155431800	Weak transcription	Fetal Muscle Trunk	muscle
43	chr1:155409600-155426000	Weak transcription	K562	blood
44	chr1:155409600-155426600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr1:155409600-155426800	Weak transcription	Hela-S3	cervix
46	chr1:155411000-155422000	Weak transcription	Osteobl	bone
47	chr1:155412000-155429200	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr1:155412200-155433800	Weak transcription	NHEK	skin
49	chr1:155412200-155436600	Weak transcription	HMEC	breast
50	chr1:155414400-155424600	Strong transcription	Fetal Intestine Small	intestine

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