Variant report

Variant	rs1153848
Chromosome Location	chr15:45695874-45695875
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:90)
CpG islands
(count:0)
Chromatin interactive
region (count:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:90 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCLAF1	chr15:45695392-45695900	GM12878	blood:	n/a	n/a
2	FOS	chr15:45695693-45696046	HUVEC	blood vessel:	n/a	chr15:45695879-45695890 chr15:45695924-45695935
3	STAT3	chr15:45695720-45696104	MCF10A-Er-Src	breast:	n/a	chr15:45695972-45695983
4	HMGN3	chr15:45694371-45696019	K562	blood:	n/a	n/a
5	MAX	chr15:45693960-45696081	Hela-S3	cervix:	n/a	n/a
6	SIN3AK20	chr15:45695340-45696042	MCF-7	breast:	n/a	n/a
7	FOS	chr15:45695739-45696114	MCF10A-Er-Src	breast:	n/a	chr15:45695879-45695890 chr15:45695924-45695935
8	RCOR1	chr15:45693888-45696299	Hela-S3	cervix:	n/a	n/a
9	UBTF	chr15:45694004-45696027	K562	blood:	n/a	n/a
10	POLR2A	chr15:45694160-45695957	K562	blood:	n/a	n/a
11	BRCA1	chr15:45695536-45696114	Hela-S3	cervix:	n/a	n/a
12	TAF1	chr15:45695661-45695890	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr15:45695500-45695902	GM12891	blood:	n/a	n/a
14	MAX	chr15:45695748-45695921	K562	blood:	n/a	n/a
15	FOS	chr15:45695703-45696115	MCF10A-Er-Src	breast:	n/a	chr15:45695879-45695890 chr15:45695924-45695935
16	MAX	chr15:45695449-45695887	K562	blood:	n/a	n/a
17	POLR2A	chr15:45694076-45696112	Hela-S3	cervix:	n/a	n/a
18	CTCF	chr15:45695780-45695930	GM12873	blood:	n/a	n/a
19	HCFC1	chr15:45693468-45696451	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr15:45693853-45695894	Raji	blood:	n/a	n/a
21	CHD1	chr15:45695541-45695898	GM12878	blood:	n/a	n/a
22	MYC	chr15:45694353-45696113	A549	lung:	n/a	n/a
23	CREB1	chr15:45695336-45695921	HepG2	liver:	n/a	n/a
24	CEBPB	chr15:45695701-45696117	IMR90	lung:	n/a	n/a
25	YY1	chr15:45695425-45695891	GM12878	blood:	n/a	n/a
26	POLR2A	chr15:45693979-45696226	Hela-S3	cervix:	n/a	n/a
27	YY1	chr15:45695330-45695874	K562	blood:	n/a	n/a
28	CHD1	chr15:45695463-45696005	H1-hESC	embryonic stem cell:	n/a	n/a
29	SMARCB1	chr15:45694009-45695922	Hela-S3	cervix:	n/a	n/a
30	POLR2A	chr15:45694187-45695963	K562	blood:	n/a	n/a
31	YY1	chr15:45695416-45695893	K562	blood:	n/a	n/a
32	UBTF	chr15:45694389-45695904	K562	blood:	n/a	n/a
33	MYC	chr15:45693997-45696053	MCF10A-Er-Src	breast:	n/a	n/a
34	POLR2A	chr15:45694149-45696035	Hela-S3	cervix:	n/a	n/a
35	WRNIP1	chr15:45695700-45696342	GM12878	blood:	n/a	n/a
36	POLR2A	chr15:45695586-45695961	Hela-S3	cervix:	n/a	n/a
37	CHD1	chr15:45693376-45696375	IMR90	lung:	n/a	n/a
38	FOS	chr15:45695739-45696099	MCF10A-Er-Src	breast:	n/a	chr15:45695879-45695890 chr15:45695924-45695935
39	EP300	chr15:45695579-45695919	K562	blood:	n/a	n/a
40	RCOR1	chr15:45695554-45695952	K562	blood:	n/a	n/a
41	GTF2F1	chr15:45695718-45695994	Hela-S3	cervix:	n/a	n/a
42	MYC	chr15:45694021-45695930	K562	blood:	n/a	n/a
43	POLR2A	chr15:45693844-45695916	H1-hESC	embryonic stem cell:	n/a	n/a
44	YY1	chr15:45695426-45695949	GM12892	blood:	n/a	n/a
45	TAF1	chr15:45695649-45696045	Hela-S3	cervix:	n/a	n/a
46	HA-E2F1	chr15:45694178-45696079	MCF-7	breast:	n/a	chr15:45694522-45694531
47	TBP	chr15:45695722-45696034	Hela-S3	cervix:	n/a	n/a
48	MAX	chr15:45694149-45695988	A549	lung:	n/a	n/a
49	HEY1	chr15:45695413-45695937	K562	blood:	n/a	n/a
50	STAT3	chr15:45695704-45695875	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:45471561..45475350-chr15:45693833..45697444,3	MCF-7	breast:
2	chr15:45443245..45445612-chr15:45693741..45696247,2	K562	blood:
3	chr15:45491292..45493253-chr15:45693461..45696308,4	K562	blood:
4	chr15:45694437..45696115-chr8:101962201..101965108,2	MCF-7	breast:
5	chr15:45459071..45462844-chr15:45693635..45696532,4	K562	blood:
6	chr15:45693902..45696245-chr15:45709725..45712520,2	K562	blood:
7	chr15:45458882..45460694-chr15:45692968..45695992,3	MCF-7	breast:
8	chr15:45695514..45697340-chr15:45717063..45718801,2	MCF-7	breast:
9	chr15:45693513..45696404-chr15:45876472..45881031,4	MCF-7	breast:
10	chr15:45489573..45492565-chr15:45693942..45696435,3	MCF-7	breast:
11	chr15:45693986..45696362-chr15:45736299..45740535,4	MCF-7	breast:
12	chr15:45490733..45493253-chr15:45692978..45696308,3	K562	blood:
13	chr15:45694563..45696942-chr15:45878361..45881039,2	K562	blood:
14	chr15:45459427..45462384-chr15:45693635..45696116,3	K562	blood:
15	chr15:45694198..45696265-chr15:45878361..45881505,3	K562	blood:
16	chr15:45694923..45696490-chr15:45729274..45731615,2	K562	blood:
17	chr15:45693316..45695933-chr15:45878534..45881095,2	MCF-7	breast:
18	chr15:45493253..45495607-chr15:45694426..45696533,2	K562	blood:
19	chr1:40506186..40507999-chr15:45694737..45696787,2	MCF-7	breast:

No data

Variant related genes	Relation type
SPATA5L1	TF binding region
GATM	TF binding region
ENSG00000252285	Chromatin interaction
ENSG00000138606	Chromatin interaction
ENSG00000259539	Chromatin interaction
ENSG00000137857	Chromatin interaction
ENSG00000260035	Chromatin interaction
ENSG00000171763	Chromatin interaction
ENSG00000260170	Chromatin interaction
ENSG00000164924	Chromatin interaction
ENSG00000259519	Chromatin interaction
ENSG00000131236	Chromatin interaction
ENSG00000104164	Chromatin interaction
ENSG00000259932	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs1055395	0.83[AMR][1000 genomes]
rs1145072	0.83[AMR][1000 genomes]
rs1145073	0.83[AMR][1000 genomes]
rs1145075	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1145082	0.83[AMR][1000 genomes]
rs1145094	0.93[YRI][hapmap]
rs1145095	0.81[AMR][1000 genomes]
rs1145096	0.81[AMR][1000 genomes]
rs1145099	0.93[YRI][hapmap];0.81[AMR][1000 genomes]
rs1153833	0.81[AMR][1000 genomes]
rs1153850	0.93[YRI][hapmap];0.81[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs1153851	0.93[YRI][hapmap];0.83[AMR][1000 genomes]
rs1153856	0.93[YRI][hapmap];0.83[AMR][1000 genomes]
rs1346265	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs1706800	0.88[YRI][hapmap];0.81[AMR][1000 genomes]
rs1706801	0.97[YRI][hapmap];0.81[AMR][1000 genomes]
rs1706802	0.81[AMR][1000 genomes]
rs1719248	0.81[AMR][1000 genomes]
rs1834686	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1874318	0.83[AMR][1000 genomes]
rs2217121	0.93[YRI][hapmap];0.83[AMR][1000 genomes]
rs2413765	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2433604	0.93[YRI][hapmap]
rs2433605	0.83[AMR][1000 genomes]
rs2433606	0.83[AMR][1000 genomes]
rs2433609	0.83[AMR][1000 genomes]
rs2453544	0.83[AMR][1000 genomes]
rs2453547	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2461704	0.83[AMR][1000 genomes]
rs2467850	0.86[AFR][1000 genomes]
rs2467852	0.83[AMR][1000 genomes]
rs2467856	0.83[AMR][1000 genomes]
rs2467857	0.83[AMR][1000 genomes]
rs2467859	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2486271	0.93[YRI][hapmap];0.83[AMR][1000 genomes]
rs2486289	0.83[AMR][1000 genomes]
rs2486290	0.83[AMR][1000 genomes]
rs2789612	0.81[AMR][1000 genomes]
rs8024550	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916374	chr15:45058112-45769052	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
2	nsv932147	chr15:45319178-45872076	Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv869616	chr15:45401411-45736209	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
4	nsv569315	chr15:45446156-45772448	Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
5	nsv469721	chr15:45608881-45788002	Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS 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	54 gene(s)	inside rSNPs	diseases
6	nsv482380	chr15:45608881-45788002	Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:45693200-45696000	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr15:45693200-45696400	Active TSS	Aorta	Aorta
3	chr15:45693200-45696800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr15:45693400-45696000	Active TSS	iPS-18 Cell Line	embryonic stem cell
5	chr15:45693400-45696000	Active TSS	Duodenum Smooth Muscle	Duodenum
6	chr15:45693400-45696200	Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr15:45693400-45696600	Active TSS	H1 Cell Line	embryonic stem cell
8	chr15:45693400-45697000	Active TSS	Fetal Intestine Large	intestine
9	chr15:45693400-45697600	Active TSS	GM12878-XiMat	blood
10	chr15:45693600-45696000	Active TSS	HUES64 Cell Line	embryonic stem cell
11	chr15:45693600-45696000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr15:45693600-45696000	Active TSS	Muscle Satellite Cultured Cells	--
13	chr15:45693600-45696000	Active TSS	Fetal Intestine Small	intestine
14	chr15:45693600-45696000	Active TSS	Fetal Stomach	stomach
15	chr15:45693600-45696200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr15:45693600-45696200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr15:45693600-45696200	Active TSS	NHDF-Ad	bronchial
18	chr15:45693600-45696200	Active TSS	NHLF	lung
19	chr15:45693600-45696400	Active TSS	A549	lung
20	chr15:45693600-45696600	Active TSS	ES-I3 Cell Line	embryonic stem cell
21	chr15:45693600-45696600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr15:45693600-45696600	Active TSS	Psoas Muscle	Psoas
23	chr15:45693600-45697000	Active TSS	HUES6 Cell Line	embryonic stem cell
24	chr15:45693600-45697200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr15:45693800-45696000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr15:45693800-45696000	Active TSS	iPS-15b Cell Line	embryonic stem cell
27	chr15:45693800-45696000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr15:45693800-45696000	Active TSS	Colon Smooth Muscle	Colon
29	chr15:45693800-45696000	Active TSS	Esophagus	oesophagus
30	chr15:45693800-45696000	Active TSS	Gastric	stomach
31	chr15:45693800-45696000	Active TSS	Pancreas	Pancrea
32	chr15:45693800-45696000	Active TSS	Stomach Mucosa	stomach
33	chr15:45693800-45696000	Active TSS	NHEK	skin
34	chr15:45693800-45696200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
35	chr15:45693800-45696200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr15:45693800-45696200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
37	chr15:45693800-45696200	Active TSS	Fetal Muscle Trunk	muscle
38	chr15:45693800-45696200	Active TSS	Small Intestine	intestine
39	chr15:45693800-45696400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr15:45693800-45696400	Active TSS	Left Ventricle	heart
41	chr15:45693800-45696600	Active TSS	H9 Cell Line	embryonic stem cell
42	chr15:45693800-45696600	Active TSS	Ovary	ovary
43	chr15:45694000-45696000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr15:45694000-45696000	Active TSS	HUES48 Cell Line	embryonic stem cell
45	chr15:45694000-45696000	Active TSS	Primary T killer memory cells from peripheral blood	blood
46	chr15:45694000-45696000	Active TSS	Brain Angular Gyrus	brain
47	chr15:45694000-45696000	Active TSS	Lung	lung
48	chr15:45694000-45696000	Active TSS	Placenta Amnion	Placenta Amnion
49	chr15:45694000-45696200	Active TSS	Fetal Brain Female	brain
50	chr15:45694000-45696200	Active TSS	Fetal Kidney	kidney

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