Variant report

Variant	rs41264915
Chromosome Location	chr1:155167786-155167787
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:155167734-155168383	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr1:155167128-155168538	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr1:155167762-155167807	K562	blood:	n/a	n/a
4	POLR2A	chr1:155165057-155168611	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr1:155165061-155168641	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr1:155161817-155168780	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr1:155167738-155167979	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr1:155162846-155168888	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr1:155162671-155168786	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr1:155161754-155168618	MCF10A-Er-Src	breast:	n/a	n/a
11	POLR2A	chr1:155167656-155167962	A549	lung:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:155167780-155167830	HUVEC	blood vessel:	n/a
2	chr1:155167780-155167830	ProgFib	skin:	n/a
3	chr1:155167780-155167830	HNPCEpiC	eye:	n/a
4	chr1:155167780-155167830	GM12878	blood:	n/a
5	chr1:155167780-155167830	NHBE	bronchial:	n/a
6	chr1:155167780-155167830	SAEC	small airway:	n/a
7	chr1:155167780-155167830	AG09309	skin:	n/a
8	chr1:155167780-155167830	AG04449	skin:	fetal
9	chr1:155167780-155167830	HEK293	kidney:	embryo
10	chr1:155167780-155167830	A549	lung:	n/a
11	chr1:155167780-155167830	AG09319	gingival:	n/a
12	chr1:155167780-155167830	HMEC	breast:	n/a
13	chr1:155167780-155167830	HL-60	blood:	n/a
14	chr1:155167780-155167830	NB4	blood:	n/a
15	chr1:155167780-155167830	BJ	skin:	n/a
16	chr1:155167780-155167830	Hela-S3	cervix:	n/a
17	chr1:155167780-155167830	RPTEC	kidney:	n/a
18	chr1:155167780-155167830	HCPEpiC	choroid plexus:	n/a
19	chr1:155167780-155167830	HCT-116	colon:	n/a
20	chr1:155167780-155167830	AG10803	skin:	n/a
21	chr1:155167780-155167830	HCF	heart:	n/a
22	chr1:155167780-155167830	SK-N-SH_RA	brain:	n/a
23	chr1:155167780-155167830	GM06990	blood:	n/a
24	chr1:155167780-155167830	MCF10A-Er-Src	breast:	n/a
25	chr1:155167780-155167830	LNCaP	prostate:	n/a
26	chr1:155167780-155167830	HIPEpiC	eye:	n/a
27	chr1:155167780-155167830	MCF-7	breast:	n/a
28	chr1:155167780-155167830	ECC-1	luminal epithelium:	n/a
29	chr1:155167780-155167830	BE2_C	brain:	n/a
30	chr1:155167780-155167830	Hepatocyte	liver:	n/a
31	chr1:155167780-155167830	PANC-1	pancreas:	n/a
32	chr1:155167780-155167830	SK-N-MC	brain:	n/a
33	chr1:155167780-155167830	NHDF-neo	bronchial:	n/a
34	chr1:155167780-155167830	HEEpiC	esophagus:	n/a
35	chr1:155167780-155167830	HRCEpiC	kidney:	n/a
36	chr1:155167780-155167830	GM12892	blood:	n/a
37	chr1:155167780-155167830	SKMC	muscle:	n/a
38	chr1:155167780-155167830	T-47D	breast:	n/a
39	chr1:155167780-155167830	HPAEpiC	pulmonary alveolar:	n/a
40	chr1:155167780-155167830	HRE	kidney:	n/a
41	chr1:155167780-155167830	ovcar-3	ovarian:	n/a
42	chr1:155167780-155167830	PrEC	prostate:	n/a
43	chr1:155167780-155167830	NH-A	brain:	n/a
44	chr1:155167780-155167830	U87	brain:	n/a
45	chr1:155167780-155167830	HAEpiC	amniotic membrane:	n/a
46	chr1:155167780-155167830	CMK	blood:	n/a
47	chr1:155167780-155167830	GM12891	blood:	n/a
48	chr1:155167780-155167830	H1-hESC	embryonic stem cell:	embryo
49	chr1:155167780-155167830	NT2-D1	testis:	n/a
50	chr1:155167780-155167830	HCM	heart:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:155167345..155170267-chr1:155238790..155240384,2	MCF-7	breast:
2	chr1:154939910..154941909-chr1:155165314..155168020,2	MCF-7	breast:
3	chr1:155034968..155037453-chr1:155166180..155167789,2	MCF-7	breast:
4	chr1:155165613..155168147-chr1:155195516..155197930,3	K562	blood:

No data

Variant related genes	Relation type
THBS3	TF binding region
ENSG00000231064	TF binding region
THBS3	CpG island
ENSG00000231064	CpG island
ENSG00000176444	Chromatin interaction
ENSG00000243364	Chromatin interaction
ENSG00000160766	Chromatin interaction
ENSG00000251246	Chromatin interaction
ENSG00000160691	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1611774	1.00[ASN][1000 genomes]
rs35154152	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58939130	1.00[ASN][1000 genomes]
rs67579710	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532579	chr1:154548165-155262692	Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	575 gene(s)	inside rSNPs	diseases
2	esv1823746	chr1:154965207-155231904	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	469 gene(s)	inside rSNPs	diseases
3	nsv464084	chr1:155082298-155194980	Weak transcription Bivalent Enhancer Active TSS Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	366 gene(s)	inside rSNPs	diseases
4	nsv547961	chr1:155082298-155194980	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	366 gene(s)	inside rSNPs	diseases
5	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
6	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
7	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
8	nsv470741	chr1:155115260-155230131	Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	381 gene(s)	inside rSNPs	diseases
9	nsv1010146	chr1:155119096-155201064	ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers 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 miRNA target site	368 gene(s)	inside rSNPs	diseases
10	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
11	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
12	nsv872458	chr1:155146102-155180466	Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	316 gene(s)	inside rSNPs	diseases
13	nsv872459	chr1:155149718-155169633	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	308 gene(s)	inside rSNPs	diseases
14	nsv527682	chr1:155149718-155197462	Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	361 gene(s)	inside rSNPs	diseases
15	nsv872461	chr1:155151493-155169633	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	308 gene(s)	inside rSNPs	diseases
16	nsv872462	chr1:155151493-155172177	Strong transcription Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	308 gene(s)	inside rSNPs	diseases
17	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
18	nsv872463	chr1:155155731-155169633	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	308 gene(s)	inside rSNPs	diseases
19	nsv872465	chr1:155157853-155169633	Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	308 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs41264915	GBA///GBAP	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155163600-155177400	Weak transcription	Small Intestine	intestine
2	chr1:155164600-155167800	Active TSS	Brain Substantia Nigra	brain
3	chr1:155164800-155167800	Enhancers	Skeletal Muscle Female	skeletal muscle
4	chr1:155164800-155176800	Weak transcription	Primary T cells from cord blood	blood
5	chr1:155165000-155167800	Weak transcription	Lung	lung
6	chr1:155165000-155176600	Weak transcription	Liver	Liver
7	chr1:155165000-155176800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr1:155165200-155168400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr1:155165400-155167800	Weak transcription	Primary hematopoietic stem cells	blood
10	chr1:155165400-155176600	Weak transcription	Brain Angular Gyrus	brain
11	chr1:155165400-155176800	Weak transcription	Right Atrium	heart
12	chr1:155165400-155176800	Weak transcription	Right Ventricle	heart
13	chr1:155165400-155177000	Weak transcription	Thymus	Thymus
14	chr1:155165600-155169600	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr1:155165600-155176600	Weak transcription	Fetal Kidney	kidney
16	chr1:155165600-155176600	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr1:155165600-155176800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr1:155165600-155176800	Weak transcription	HMEC	breast
19	chr1:155165800-155168800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr1:155165800-155176000	Strong transcription	Fetal Intestine Small	intestine
21	chr1:155165800-155176600	Weak transcription	Duodenum Mucosa	Duodenum
22	chr1:155165800-155176800	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr1:155166000-155168000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr1:155166000-155168000	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr1:155166000-155168400	Strong transcription	Primary neutrophils fromperipheralblood	blood
26	chr1:155166000-155168600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
27	chr1:155166000-155169800	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr1:155166000-155170800	Weak transcription	Colonic Mucosa	Colon
29	chr1:155166000-155172400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr1:155166000-155174800	Strong transcription	Placenta Amnion	Placenta Amnion
31	chr1:155166000-155176600	Weak transcription	Fetal Thymus	thymus
32	chr1:155166000-155176800	Weak transcription	K562	blood
33	chr1:155166200-155168000	Weak transcription	HSMMtube	muscle
34	chr1:155166200-155168400	Genic enhancers	Spleen	Spleen
35	chr1:155166200-155168600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr1:155166200-155168600	Strong transcription	Fetal Intestine Large	intestine
37	chr1:155166200-155168600	Strong transcription	NHEK	skin
38	chr1:155166200-155168800	Strong transcription	Colon Smooth Muscle	Colon
39	chr1:155166200-155172000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr1:155166200-155172400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr1:155166200-155174600	Weak transcription	Stomach Mucosa	stomach
42	chr1:155166200-155175000	Strong transcription	Fetal Muscle Trunk	muscle
43	chr1:155166200-155175600	Strong transcription	Fetal Muscle Leg	muscle
44	chr1:155166400-155167800	Transcr. at gene 5' and 3'	iPS-18 Cell Line	embryonic stem cell
45	chr1:155166400-155168600	Strong transcription	Placenta	Placenta
46	chr1:155166400-155168600	Strong transcription	Rectal Smooth Muscle	rectum
47	chr1:155166400-155168600	Strong transcription	A549	lung
48	chr1:155166400-155168600	Strong transcription	Osteobl	bone
49	chr1:155166400-155168800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr1:155166400-155172000	Strong transcription	Duodenum Smooth Muscle	Duodenum

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