Variant report

Variant	rs2467852
Chromosome Location	chr15:45695341-45695342
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:88)
CpG islands
(count:0)
Chromatin interactive
region (count:25)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:88 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:45693983-45695356	Hela-S3	cervix:	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	chr15:45694009-45695355	GM18526	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	POLR2A	chr15:45693891-45695837	HepG2	liver:	n/a	n/a
8	HMGN3	chr15:45694371-45696019	K562	blood:	n/a	n/a
9	MAX	chr15:45694427-45695347	H1-hESC	embryonic stem cell:	n/a	n/a
10	MAX	chr15:45693960-45696081	Hela-S3	cervix:	n/a	n/a
11	GABPA	chr15:45695328-45695642	H1-hESC	embryonic stem cell:	n/a	n/a
12	SIN3AK20	chr15:45695340-45696042	MCF-7	breast:	n/a	n/a
13	RCOR1	chr15:45693888-45696299	Hela-S3	cervix:	n/a	n/a
14	UBTF	chr15:45694004-45696027	K562	blood:	n/a	n/a
15	POLR2A	chr15:45694160-45695957	K562	blood:	n/a	n/a
16	CTBP2	chr15:45694383-45695649	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr15:45694239-45695368	A549	lung:	n/a	n/a
18	POLR2A	chr15:45695284-45695450	ProgFib	skin:	n/a	n/a
19	POLR2A	chr15:45694076-45696112	Hela-S3	cervix:	n/a	n/a
20	TAF1	chr15:45694183-45695801	HepG2	liver:	n/a	n/a
21	HCFC1	chr15:45693468-45696451	Hela-S3	cervix:	n/a	n/a
22	POLR2A	chr15:45693853-45695894	Raji	blood:	n/a	n/a
23	MYC	chr15:45694353-45696113	A549	lung:	n/a	n/a
24	POLR2A	chr15:45693786-45695803	GM19099	blood:	n/a	n/a
25	POLR2A	chr15:45693986-45695826	GM19193	blood:	n/a	n/a
26	E2F6	chr15:45694256-45695779	K562	blood:	n/a	chr15:45694522-45694531 chr15:45695385-45695397
27	CREB1	chr15:45695336-45695921	HepG2	liver:	n/a	n/a
28	POLR2A	chr15:45694163-45695675	H1-hESC	embryonic stem cell:	n/a	n/a
29	POLR2A	chr15:45693979-45696226	Hela-S3	cervix:	n/a	n/a
30	YY1	chr15:45695330-45695874	K562	blood:	n/a	n/a
31	MYC	chr15:45694446-45695724	MCF-7	breast:	n/a	n/a
32	RUNX3	chr15:45694002-45695864	GM12878	blood:	n/a	n/a
33	SMARCB1	chr15:45694009-45695922	Hela-S3	cervix:	n/a	n/a
34	POLR2A	chr15:45694187-45695963	K562	blood:	n/a	n/a
35	UBTF	chr15:45694389-45695904	K562	blood:	n/a	n/a
36	MYC	chr15:45693997-45696053	MCF10A-Er-Src	breast:	n/a	n/a
37	MAX	chr15:45694209-45695828	A549	lung:	n/a	n/a
38	POLR2A	chr15:45694149-45696035	Hela-S3	cervix:	n/a	n/a
39	POLR2A	chr15:45695315-45695658	A549	lung:	n/a	n/a
40	NRF1	chr15:45693847-45695368	SK-N-SH	brain:	n/a	chr15:45694521-45694535 chr15:45694523-45694532 chr15:45694562-45694569 chr15:45694521-45694530 chr15:45694521-45694532 chr15:45694521-45694532
41	TCF3	chr15:45694585-45695453	GM12878	blood:	n/a	n/a
42	CHD1	chr15:45693376-45696375	IMR90	lung:	n/a	n/a
43	MYC	chr15:45694021-45695930	K562	blood:	n/a	n/a
44	POLR2A	chr15:45693844-45695916	H1-hESC	embryonic stem cell:	n/a	n/a
45	GTF2F1	chr15:45695323-45695679	H1-hESC	embryonic stem cell:	n/a	n/a
46	POLR2A	chr15:45694152-45695812	GM12892	blood:	n/a	n/a
47	HA-E2F1	chr15:45694178-45696079	MCF-7	breast:	n/a	chr15:45694522-45694531
48	MAX	chr15:45694149-45695988	A549	lung:	n/a	n/a
49	CREB1	chr15:45695338-45695842	K562	blood:	n/a	n/a
50	POLR2A	chr15:45694177-45695774	A549	lung:	n/a	n/a

No data

(count:25 , 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	chr15:45695053..45695706-chr18:48556571..48557508,2	Hela-S3	cervix:
10	chr15:45693513..45696404-chr15:45876472..45881031,4	MCF-7	breast:
11	chr15:45489573..45492565-chr15:45693942..45696435,3	MCF-7	breast:
12	chr15:45571345..45572149-chr15:45695156..45695671,2	MCF-7	breast:
13	chr15:45693986..45696362-chr15:45736299..45740535,4	MCF-7	breast:
14	chr15:45497455..45498005-chr15:45694577..45695511,2	K562	blood:
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	chr15:45694529..45695513-chr17:27046875..27047495,2	Hela-S3	cervix:
20	chr15:45694198..45696265-chr15:45878361..45881505,3	K562	blood:
21	chr15:45694962..45695650-chr19:1261794..1262312,2	Hela-S3	cervix:
22	chr15:45694923..45696490-chr15:45729274..45731615,2	K562	blood:
23	chr15:45693316..45695933-chr15:45878534..45881095,2	MCF-7	breast:
24	chr15:45493253..45495607-chr15:45694426..45696533,2	K562	blood:
25	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
ENSG00000198242	Chromatin interaction
ENSG00000164924	Chromatin interaction
ENSG00000259539	Chromatin interaction
ENSG00000259520	Chromatin interaction
ENSG00000259519	Chromatin interaction
ENSG00000138606	Chromatin interaction
ENSG00000259932	Chromatin interaction
ENSG00000252285	Chromatin interaction
ENSG00000104164	Chromatin interaction
ENSG00000171763	Chromatin interaction
ENSG00000137857	Chromatin interaction
ENSG00000141646	Chromatin interaction
ENSG00000260035	Chromatin interaction
ENSG00000099622	Chromatin interaction
ENSG00000131236	Chromatin interaction
ENSG00000260170	Chromatin interaction
ENSG00000259354	Chromatin interaction

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs1055395	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11070455	1.00[EUR][1000 genomes]
rs1145072	0.94[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	0.83[AMR][1000 genomes]
rs1145082	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1145092	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1145094	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1153848	0.83[AMR][1000 genomes]
rs1153850	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1153851	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1153856	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1153859	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1346265	0.97[AFR][1000 genomes];1.00[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	0.83[AMR][1000 genomes]
rs1874318	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2217121	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2413765	0.83[AMR][1000 genomes]
rs2433603	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2433604	0.82[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	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2433610	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2453544	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2453547	0.83[AMR][1000 genomes]
rs2461704	0.89[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	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	chr15:45693400-45695600	Active TSS	Brain Anterior Caudate	brain
5	chr15:45693400-45696000	Active TSS	iPS-18 Cell Line	embryonic stem cell
6	chr15:45693400-45696000	Active TSS	Duodenum Smooth Muscle	Duodenum
7	chr15:45693400-45696200	Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr15:45693400-45696600	Active TSS	H1 Cell Line	embryonic stem cell
9	chr15:45693400-45697000	Active TSS	Fetal Intestine Large	intestine
10	chr15:45693400-45697600	Active TSS	GM12878-XiMat	blood
11	chr15:45693600-45695400	Active TSS	Right Ventricle	heart
12	chr15:45693600-45695600	Active TSS	Fetal Thymus	thymus
13	chr15:45693600-45695800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
14	chr15:45693600-45695800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr15:45693600-45695800	Active TSS	Fetal Brain Male	brain
16	chr15:45693600-45695800	Active TSS	K562	blood
17	chr15:45693600-45696000	Active TSS	HUES64 Cell Line	embryonic stem cell
18	chr15:45693600-45696000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr15:45693600-45696000	Active TSS	Muscle Satellite Cultured Cells	--
20	chr15:45693600-45696000	Active TSS	Fetal Intestine Small	intestine
21	chr15:45693600-45696000	Active TSS	Fetal Stomach	stomach
22	chr15:45693600-45696200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr15:45693600-45696200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr15:45693600-45696200	Active TSS	NHDF-Ad	bronchial
25	chr15:45693600-45696200	Active TSS	NHLF	lung
26	chr15:45693600-45696400	Active TSS	A549	lung
27	chr15:45693600-45696600	Active TSS	ES-I3 Cell Line	embryonic stem cell
28	chr15:45693600-45696600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr15:45693600-45696600	Active TSS	Psoas Muscle	Psoas
30	chr15:45693600-45697000	Active TSS	HUES6 Cell Line	embryonic stem cell
31	chr15:45693600-45697200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr15:45693800-45695400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr15:45693800-45695600	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
34	chr15:45693800-45695600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
35	chr15:45693800-45695600	Active TSS	Placenta	Placenta
36	chr15:45693800-45695800	Active TSS	Brain Substantia Nigra	brain
37	chr15:45693800-45695800	Active TSS	Fetal Muscle Leg	muscle
38	chr15:45693800-45695800	Active TSS	Sigmoid Colon	Sigmoid Colon
39	chr15:45693800-45696000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr15:45693800-45696000	Active TSS	iPS-15b Cell Line	embryonic stem cell
41	chr15:45693800-45696000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr15:45693800-45696000	Active TSS	Colon Smooth Muscle	Colon
43	chr15:45693800-45696000	Active TSS	Esophagus	oesophagus
44	chr15:45693800-45696000	Active TSS	Gastric	stomach
45	chr15:45693800-45696000	Active TSS	Pancreas	Pancrea
46	chr15:45693800-45696000	Active TSS	Stomach Mucosa	stomach
47	chr15:45693800-45696000	Active TSS	NHEK	skin
48	chr15:45693800-45696200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
49	chr15:45693800-45696200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr15:45693800-45696200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood

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