Variant report

Variant	rs1346265
Chromosome Location	chr15:45695612-45695613
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:153)
CpG islands
(count:0)
Chromatin interactive
region (count:24)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:153 , 50 per page) page: 1 2 3 4

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	POLR2A	chr15:45694204-45695771	GM12878	blood:	n/a	n/a
3	YY1	chr15:45694328-45695871	HepG2	liver:	n/a	n/a
4	POLR2A	chr15:45695512-45695712	GM12878	blood:	n/a	n/a
5	POLR2A	chr15:45694917-45695716	ECC-1	luminal epithelium:	n/a	n/a
6	MAZ	chr15:45693871-45695868	K562	blood:	n/a	n/a
7	TBP	chr15:45695559-45695750	H1-hESC	embryonic stem cell:	n/a	n/a
8	GABPA	chr15:45695523-45695724	GM12878	blood:	n/a	n/a
9	POLR2A	chr15:45693891-45695837	HepG2	liver:	n/a	n/a
10	HMGN3	chr15:45694371-45696019	K562	blood:	n/a	n/a
11	MAX	chr15:45693960-45696081	Hela-S3	cervix:	n/a	n/a
12	GABPA	chr15:45695328-45695642	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr15:45695381-45695740	H1-hESC	embryonic stem cell:	n/a	n/a
14	SIN3AK20	chr15:45695340-45696042	MCF-7	breast:	n/a	n/a
15	POLR2A	chr15:45695474-45695678	A549	lung:	n/a	n/a
16	RCOR1	chr15:45693888-45696299	Hela-S3	cervix:	n/a	n/a
17	UBTF	chr15:45694004-45696027	K562	blood:	n/a	n/a
18	POLR2A	chr15:45694160-45695957	K562	blood:	n/a	n/a
19	BRCA1	chr15:45695536-45696114	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr15:45695500-45695902	GM12891	blood:	n/a	n/a
21	CTBP2	chr15:45694383-45695649	H1-hESC	embryonic stem cell:	n/a	n/a
22	MAX	chr15:45695449-45695887	K562	blood:	n/a	n/a
23	POLR2A	chr15:45694076-45696112	Hela-S3	cervix:	n/a	n/a
24	TAF1	chr15:45694183-45695801	HepG2	liver:	n/a	n/a
25	HCFC1	chr15:45693468-45696451	Hela-S3	cervix:	n/a	n/a
26	POLR2A	chr15:45693853-45695894	Raji	blood:	n/a	n/a
27	CHD1	chr15:45695541-45695898	GM12878	blood:	n/a	n/a
28	MYC	chr15:45694353-45696113	A549	lung:	n/a	n/a
29	ZC3H11A	chr15:45695455-45695655	K562	blood:	n/a	n/a
30	POLR2A	chr15:45693786-45695803	GM19099	blood:	n/a	n/a
31	POLR2A	chr15:45693986-45695826	GM19193	blood:	n/a	n/a
32	MAZ	chr15:45695540-45695762	HepG2	liver:	n/a	n/a
33	E2F6	chr15:45694256-45695779	K562	blood:	n/a	chr15:45694522-45694531 chr15:45695385-45695397
34	CREB1	chr15:45695336-45695921	HepG2	liver:	n/a	n/a
35	POLR2A	chr15:45694163-45695675	H1-hESC	embryonic stem cell:	n/a	n/a
36	YY1	chr15:45695425-45695891	GM12878	blood:	n/a	n/a
37	POLR2A	chr15:45693979-45696226	Hela-S3	cervix:	n/a	n/a
38	YY1	chr15:45695405-45695858	GM12878	blood:	n/a	n/a
39	YY1	chr15:45695330-45695874	K562	blood:	n/a	n/a
40	MYC	chr15:45694446-45695724	MCF-7	breast:	n/a	n/a
41	RUNX3	chr15:45694002-45695864	GM12878	blood:	n/a	n/a
42	CHD1	chr15:45695463-45696005	H1-hESC	embryonic stem cell:	n/a	n/a
43	SMARCB1	chr15:45694009-45695922	Hela-S3	cervix:	n/a	n/a
44	POLR2A	chr15:45695500-45695670	A549	lung:	n/a	n/a
45	POLR2A	chr15:45694187-45695963	K562	blood:	n/a	n/a
46	CTCF	chr15:45695520-45695670	AG04449	skin:	n/a	n/a
47	YY1	chr15:45695416-45695893	K562	blood:	n/a	n/a
48	UBTF	chr15:45694389-45695904	K562	blood:	n/a	n/a
49	MYC	chr15:45693997-45696053	MCF10A-Er-Src	breast:	n/a	n/a
50	CTCF	chr15:45695480-45695630	HepG2	liver:	n/a	n/a

No data

(count:24 , 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	chr15:45570708..45573284-chr15:45693152..45695793,2	MCF-7	breast:
8	chr15:45458882..45460694-chr15:45692968..45695992,3	MCF-7	breast:
9	chr15:45695514..45697340-chr15:45717063..45718801,2	MCF-7	breast:
10	chr15:45695053..45695706-chr18:48556571..48557508,2	Hela-S3	cervix:
11	chr15:45693513..45696404-chr15:45876472..45881031,4	MCF-7	breast:
12	chr15:45489573..45492565-chr15:45693942..45696435,3	MCF-7	breast:
13	chr15:45571345..45572149-chr15:45695156..45695671,2	MCF-7	breast:
14	chr15:45693986..45696362-chr15:45736299..45740535,4	MCF-7	breast:
15	chr15:45490733..45493253-chr15:45692978..45696308,3	K562	blood:
16	chr15:45694563..45696942-chr15:45878361..45881039,2	K562	blood:
17	chr15:45459427..45462384-chr15:45693635..45696116,3	K562	blood:
18	chr15:45693029..45695760-chr15:45741637..45746369,4	MCF-7	breast:
19	chr15:45694198..45696265-chr15:45878361..45881505,3	K562	blood:
20	chr15:45694962..45695650-chr19:1261794..1262312,2	Hela-S3	cervix:
21	chr15:45694923..45696490-chr15:45729274..45731615,2	K562	blood:
22	chr15:45693316..45695933-chr15:45878534..45881095,2	MCF-7	breast:
23	chr15:45493253..45495607-chr15:45694426..45696533,2	K562	blood:
24	chr1:40506186..40507999-chr15:45694737..45696787,2	MCF-7	breast:

No data

Variant related genes	Relation type
GATM	TF binding region
SPATA5L1	TF binding region
ENSG00000138606	Chromatin interaction
ENSG00000259520	Chromatin interaction
ENSG00000260035	Chromatin interaction
ENSG00000137857	Chromatin interaction
ENSG00000131236	Chromatin interaction
ENSG00000260170	Chromatin interaction
ENSG00000259539	Chromatin interaction
ENSG00000259932	Chromatin interaction
ENSG00000164924	Chromatin interaction
ENSG00000099622	Chromatin interaction
ENSG00000259519	Chromatin interaction
ENSG00000259354	Chromatin interaction
ENSG00000104164	Chromatin interaction
ENSG00000252285	Chromatin interaction
ENSG00000141646	Chromatin interaction
ENSG00000171763	Chromatin interaction

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs1055395	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11070455	1.00[EUR][1000 genomes]
rs1145072	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1145073	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1145075	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs1145082	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1145092	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1145094	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1153848	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs1153850	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1153851	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1153856	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1153859	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1403319	1.00[EUR][1000 genomes]
rs1464558	1.00[EUR][1000 genomes]
rs1706775	1.00[EUR][1000 genomes]
rs1706782	1.00[EUR][1000 genomes]
rs1706783	1.00[EUR][1000 genomes]
rs1706784	1.00[EUR][1000 genomes]
rs1706786	1.00[EUR][1000 genomes]
rs1706788	1.00[EUR][1000 genomes]
rs1706789	1.00[EUR][1000 genomes]
rs1706790	1.00[EUR][1000 genomes]
rs1706794	1.00[EUR][1000 genomes]
rs1706795	1.00[EUR][1000 genomes]
rs1706796	1.00[EUR][1000 genomes]
rs1706797	1.00[EUR][1000 genomes]
rs1719242	1.00[EUR][1000 genomes]
rs1719249	1.00[EUR][1000 genomes]
rs1834686	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs1874318	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2217121	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2413765	0.83[AMR][1000 genomes]
rs2433603	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2433604	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2433605	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2433606	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2433609	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2433610	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2453544	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2453547	0.83[AMR][1000 genomes]
rs2461704	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2467852	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2467855	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2467856	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2467857	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2467859	0.83[AMR][1000 genomes]
rs2486271	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2486273	0.82[AFR][1000 genomes]
rs2486289	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2486290	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2668740	1.00[EUR][1000 genomes]
rs2687513	1.00[EUR][1000 genomes]
rs57553327	1.00[EUR][1000 genomes]
rs7163395	1.00[EUR][1000 genomes]
rs7163751	1.00[EUR][1000 genomes]
rs7164252	1.00[EUR][1000 genomes]
rs7169175	1.00[EUR][1000 genomes]
rs7173541	1.00[EUR][1000 genomes]
rs7179186	1.00[EUR][1000 genomes]
rs7179844	1.00[EUR][1000 genomes]
rs74009622	1.00[EUR][1000 genomes]
rs8024550	0.83[AMR][1000 genomes]
rs8028061	1.00[EUR][1000 genomes]
rs8033329	1.00[EUR][1000 genomes]
rs8040380	1.00[EUR][1000 genomes]
rs9806260	1.00[EUR][1000 genomes]
rs9972564	1.00[EUR][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	chr15:45693600-45695800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
11	chr15:45693600-45695800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr15:45693600-45695800	Active TSS	Fetal Brain Male	brain
13	chr15:45693600-45695800	Active TSS	K562	blood
14	chr15:45693600-45696000	Active TSS	HUES64 Cell Line	embryonic stem cell
15	chr15:45693600-45696000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr15:45693600-45696000	Active TSS	Muscle Satellite Cultured Cells	--
17	chr15:45693600-45696000	Active TSS	Fetal Intestine Small	intestine
18	chr15:45693600-45696000	Active TSS	Fetal Stomach	stomach
19	chr15:45693600-45696200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr15:45693600-45696200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr15:45693600-45696200	Active TSS	NHDF-Ad	bronchial
22	chr15:45693600-45696200	Active TSS	NHLF	lung
23	chr15:45693600-45696400	Active TSS	A549	lung
24	chr15:45693600-45696600	Active TSS	ES-I3 Cell Line	embryonic stem cell
25	chr15:45693600-45696600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr15:45693600-45696600	Active TSS	Psoas Muscle	Psoas
27	chr15:45693600-45697000	Active TSS	HUES6 Cell Line	embryonic stem cell
28	chr15:45693600-45697200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr15:45693800-45695800	Active TSS	Brain Substantia Nigra	brain
30	chr15:45693800-45695800	Active TSS	Fetal Muscle Leg	muscle
31	chr15:45693800-45695800	Active TSS	Sigmoid Colon	Sigmoid Colon
32	chr15:45693800-45696000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr15:45693800-45696000	Active TSS	iPS-15b Cell Line	embryonic stem cell
34	chr15:45693800-45696000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr15:45693800-45696000	Active TSS	Colon Smooth Muscle	Colon
36	chr15:45693800-45696000	Active TSS	Esophagus	oesophagus
37	chr15:45693800-45696000	Active TSS	Gastric	stomach
38	chr15:45693800-45696000	Active TSS	Pancreas	Pancrea
39	chr15:45693800-45696000	Active TSS	Stomach Mucosa	stomach
40	chr15:45693800-45696000	Active TSS	NHEK	skin
41	chr15:45693800-45696200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
42	chr15:45693800-45696200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr15:45693800-45696200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
44	chr15:45693800-45696200	Active TSS	Fetal Muscle Trunk	muscle
45	chr15:45693800-45696200	Active TSS	Small Intestine	intestine
46	chr15:45693800-45696400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr15:45693800-45696400	Active TSS	Left Ventricle	heart
48	chr15:45693800-45696600	Active TSS	H9 Cell Line	embryonic stem cell
49	chr15:45693800-45696600	Active TSS	Ovary	ovary
50	chr15:45694000-45695800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived

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