Variant report

Variant	rs74025850
Chromosome Location	chr15:75111152-75111153
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:119)
CpG islands
(count:61)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:119 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr15:75110964-75111442	K562	blood:	n/a	chr15:75111249-75111260
2	HDAC2	chr15:75110983-75111258	HepG2	liver:	n/a	n/a
3	MAX	chr15:75111056-75111318	K562	blood:	n/a	chr15:75111249-75111260
4	MAX	chr15:75110901-75111616	MCF-7	breast:	n/a	chr15:75111249-75111260
5	CBX3	chr15:75110895-75111349	K562	blood:	n/a	n/a
6	JUN	chr15:75111019-75111373	K562	blood:	n/a	chr15:75111159-75111168
7	SIN3AK20	chr15:75110742-75111495	MCF-7	breast:	n/a	n/a
8	JUN	chr15:75110970-75111348	Hela-S3	cervix:	n/a	chr15:75111159-75111168
9	SETDB1	chr15:75110856-75111296	U2OS	brain:	n/a	n/a
10	NR2F2	chr15:75110878-75111647	MCF-7	breast:	n/a	n/a
11	SMARCC2	chr15:75110972-75111631	Hela-S3	cervix:	n/a	chr15:75111159-75111168
12	MAX	chr15:75110943-75111421	Hela-S3	cervix:	n/a	chr15:75111249-75111260
13	HCFC1	chr15:75110330-75111624	Hela-S3	cervix:	n/a	n/a
14	SMARCB1	chr15:75110962-75111879	Hela-S3	cervix:	n/a	chr15:75111159-75111168
15	ELF1	chr15:75110938-75111336	GM12878	blood:	n/a	chr15:75111166-75111179
16	CHD2	chr15:75110995-75111353	Hela-S3	cervix:	n/a	n/a
17	JUND	chr15:75110953-75111275	HepG2	liver:	n/a	chr15:75111157-75111168 chr15:75111159-75111168
18	FOSL2	chr15:75110886-75111365	A549	lung:	n/a	chr15:75111158-75111169 chr15:75111159-75111168
19	GTF2F1	chr15:75110998-75111389	Hela-S3	cervix:	n/a	n/a
20	JUN	chr15:75111007-75111323	HUVEC	blood vessel:	n/a	chr15:75111159-75111168
21	MXI1	chr15:75110920-75111430	HepG2	liver:	n/a	n/a
22	MAZ	chr15:75111018-75111313	HepG2	liver:	n/a	chr15:75111249-75111260
23	POLR2A	chr15:75110887-75111330	Hela-S3	cervix:	n/a	n/a
24	SMARCC1	chr15:75111020-75112075	Hela-S3	cervix:	n/a	chr15:75111159-75111168
25	USF2	chr15:75111066-75111383	HepG2	liver:	n/a	n/a
26	ELK1	chr15:75110921-75111363	Hela-S3	cervix:	n/a	n/a
27	CEBPB	chr15:75110858-75111310	Hela-S3	cervix:	n/a	n/a
28	FOSL1	chr15:75110993-75111307	K562	blood:	n/a	chr15:75111157-75111168 chr15:75111159-75111168
29	GABPA	chr15:75110969-75111209	Hela-S3	cervix:	n/a	n/a
30	ELF1	chr15:75110888-75111489	MCF-7	breast:	n/a	chr15:75111166-75111179
31	MAX	chr15:75110955-75111376	HepG2	liver:	n/a	chr15:75111249-75111260
32	JUND	chr15:75110941-75111308	A549	lung:	n/a	chr15:75111157-75111168 chr15:75111159-75111168
33	ELF1	chr15:75110902-75111539	MCF-7	breast:	n/a	chr15:75111166-75111179
34	MAZ	chr15:75110966-75111386	Hela-S3	cervix:	n/a	chr15:75111249-75111260
35	FOS	chr15:75110974-75111338	MCF10A-Er-Src	breast:	n/a	chr15:75111157-75111168 chr15:75111159-75111168
36	JUND	chr15:75110941-75111361	HepG2	liver:	n/a	chr15:75111157-75111168 chr15:75111159-75111168
37	BHLHE40	chr15:75110979-75111416	K562	blood:	n/a	n/a
38	SMC3	chr15:75110923-75111393	Hela-S3	cervix:	n/a	n/a
39	KAP1	chr15:75110973-75111332	U2OS	brain:	n/a	n/a
40	RCOR1	chr15:75111002-75111252	K562	blood:	n/a	n/a
41	MYC	chr15:75111100-75111342	MCF-7	breast:	n/a	chr15:75111249-75111260
42	MAZ	chr15:75111002-75111365	K562	blood:	n/a	chr15:75111249-75111260
43	NFYA	chr15:75110963-75111316	Hela-S3	cervix:	n/a	n/a
44	GABPA	chr15:75110872-75111338	K562	blood:	n/a	n/a
45	MAX	chr15:75110965-75111440	Hela-S3	cervix:	n/a	chr15:75111249-75111260
46	RFX5	chr15:75111086-75111404	HepG2	liver:	n/a	n/a
47	RAD21	chr15:75110961-75111341	Hela-S3	cervix:	n/a	n/a
48	NR2F2	chr15:75110960-75111556	K562	blood:	n/a	n/a
49	POLR2A	chr15:75110876-75111392	HCT-116	colon:	n/a	n/a
50	MAX	chr15:75110895-75111405	ECC-1	luminal epithelium:	n/a	chr15:75111249-75111260

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:75111129-75111179	PFSK-1	brain:	n/a
2	chr15:75111129-75111179	NHBE	bronchial:	n/a
3	chr15:75111129-75111179	CMK	blood:	n/a
4	chr15:75111129-75111179	NT2-D1	testis:	n/a
5	chr15:75111129-75111179	K562	blood:	n/a
6	chr15:75111129-75111179	SK-N-SH_RA	brain:	n/a
7	chr15:75111129-75111179	NHDF-neo	bronchial:	n/a
8	chr15:75111129-75111179	GM12878	blood:	n/a
9	chr15:75111129-75111179	AG10803	skin:	n/a
10	chr15:75111129-75111179	NB4	blood:	n/a
11	chr15:75111129-75111179	ovcar-3	ovarian:	n/a
12	chr15:75111129-75111179	HIPEpiC	eye:	n/a
13	chr15:75111129-75111179	HMEC	breast:	n/a
14	chr15:75111129-75111179	HCT-116	colon:	n/a
15	chr15:75111129-75111179	HPAEpiC	pulmonary alveolar:	n/a
16	chr15:75111129-75111179	LNCaP	prostate:	n/a
17	chr15:75111129-75111179	MCF10A-Er-Src	breast:	n/a
18	chr15:75111129-75111179	AG04450	lung:	fetal
19	chr15:75111129-75111179	HRPEpiC	eye:	n/a
20	chr15:75111129-75111179	GM19239	blood:	n/a
21	chr15:75111129-75111179	ECC-1	luminal epithelium:	n/a
22	chr15:75111129-75111179	HEK293	kidney:	embryo
23	chr15:75111129-75111179	HCF	heart:	n/a
24	chr15:75111129-75111179	AG04449	skin:	fetal
25	chr15:75111129-75111179	NH-A	brain:	n/a
26	chr15:75111129-75111179	HUVEC	blood vessel:	n/a
27	chr15:75111129-75111179	Caco-2	colon:	n/a
28	chr15:75111129-75111179	BJ	skin:	n/a
29	chr15:75111129-75111179	HEEpiC	esophagus:	n/a
30	chr15:75111129-75111179	SKMC	muscle:	n/a
31	chr15:75111129-75111179	U87	brain:	n/a
32	chr15:75111129-75111179	Jurkat	blood:	n/a
33	chr15:75111129-75111179	Hepatocyte	liver:	n/a
34	chr15:75111129-75111179	BE2_C	brain:	n/a
35	chr15:75111129-75111179	RPTEC	kidney:	n/a
36	chr15:75111129-75111179	HNPCEpiC	eye:	n/a
37	chr15:75111129-75111179	MCF-7	breast:	n/a
38	chr15:75111129-75111179	AG09319	gingival:	n/a
39	chr15:75111129-75111179	HRE	kidney:	n/a
40	chr15:75111129-75111179	AoSMC	blood vessel:	n/a
41	chr15:75111129-75111179	AG09309	skin:	n/a
42	chr15:75111129-75111179	GM06990	blood:	n/a
43	chr15:75111129-75111179	GM12892	blood:	n/a
44	chr15:75111129-75111179	H1-hESC	embryonic stem cell:	embryo
45	chr15:75111129-75111179	HAEpiC	amniotic membrane:	n/a
46	chr15:75111129-75111179	PANC-1	pancreas:	n/a
47	chr15:75111129-75111179	HL-60	blood:	n/a
48	chr15:75111129-75111179	A549	lung:	n/a
49	chr15:75111129-75111179	SK-N-MC	brain:	n/a
50	chr15:75111129-75111179	IMR90	lung:	fetal

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:75074156..75079604-chr15:75107384..75112501,9	MCF-7	breast:
2	chr15:75109533..75111240-chr15:75228886..75230754,2	MCF-7	breast:
3	chr15:75109449..75112132-chr15:75112266..75114045,2	MCF-7	breast:
4	chr15:75081235..75085402-chr15:75108223..75111318,4	MCF-7	breast:
5	chr15:75072350..75078841-chr15:75107920..75114107,12	MCF-7	breast:
6	chr15:75109719..75111456-chr15:75185022..75186522,2	MCF-7	breast:
7	chr15:74907471..74909461-chr15:75108949..75111187,2	MCF-7	breast:
8	chr15:75108356..75114001-chr15:75126388..75130558,9	MCF-7	breast:
9	chr15:75109652..75112640-chr15:76193633..76196409,2	K562	blood:
10	chr15:75106165..75113668-chr15:75132311..75136608,10	MCF-7	breast:
11	chr15:75110559..75112836-chr15:75746524..75748233,2	K562	blood:
12	chr15:75110223..75112810-chr15:75165268..75167627,2	MCF-7	breast:
13	chr15:74753371..74753902-chr15:75110864..75111756,2	Hela-S3	cervix:
14	chr15:75080218..75087203-chr15:75106250..75113071,13	MCF-7	breast:

No data

Variant related genes	Relation type
LMAN1L	TF binding region
ENSG00000261606	TF binding region
ENSG00000261606	CpG island
LMAN1L	CpG island
ENSG00000140474	Chromatin interaction
ENSG00000264386	Chromatin interaction
ENSG00000179335	Chromatin interaction
ENSG00000103653	Chromatin interaction
ENSG00000140497	Chromatin interaction
ENSG00000167196	Chromatin interaction
ENSG00000138629	Chromatin interaction
ENSG00000247240	Chromatin interaction
ENSG00000261606	Chromatin interaction
ENSG00000260919	Chromatin interaction
ENSG00000169375	Chromatin interaction
ENSG00000140506	Chromatin interaction
ENSG00000178741	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11633539	0.85[AFR][1000 genomes]
rs16973048	0.82[AFR][1000 genomes]
rs34945944	0.80[AFR][1000 genomes]
rs35603757	0.85[AFR][1000 genomes]
rs35738366	0.85[AFR][1000 genomes]
rs56748048	0.85[AFR][1000 genomes]
rs60757109	0.82[AFR][1000 genomes]
rs61671857	1.00[AFR][1000 genomes]
rs74025851	0.91[AFR][1000 genomes]
rs74025852	0.85[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv904380	chr15:74869438-75142761	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	nsv833055	chr15:74988344-75166288	Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
3	nsv520527	chr15:75108636-75122856	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv904381	chr15:75108636-75242155	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:75101800-75113200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr15:75107000-75112200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr15:75107200-75111200	Enhancers	Rectal Mucosa Donor 31	rectum
4	chr15:75107200-75111400	Enhancers	Esophagus	oesophagus
5	chr15:75107200-75111800	Enhancers	Colonic Mucosa	Colon
6	chr15:75107200-75112400	Enhancers	Rectal Mucosa Donor 29	rectum
7	chr15:75107200-75114400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr15:75108000-75113000	Weak transcription	Right Atrium	heart
9	chr15:75108200-75111400	Weak transcription	HSMMtube	muscle
10	chr15:75108600-75111400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr15:75108600-75111600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr15:75108800-75111400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr15:75108800-75112600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr15:75109000-75111400	Enhancers	H1 Cell Line	embryonic stem cell
15	chr15:75109000-75111600	Enhancers	Placenta	Placenta
16	chr15:75109000-75111600	Enhancers	HMEC	breast
17	chr15:75109000-75111800	Enhancers	Spleen	Spleen
18	chr15:75109200-75111600	Enhancers	NHEK	skin
19	chr15:75109200-75112000	Enhancers	Duodenum Mucosa	Duodenum
20	chr15:75109400-75111200	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr15:75109400-75111600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr15:75109400-75111600	Enhancers	Lung	lung
23	chr15:75109400-75111600	Enhancers	Right Ventricle	heart
24	chr15:75109400-75111600	Enhancers	Stomach Mucosa	stomach
25	chr15:75109400-75111600	Enhancers	HUVEC	blood vessel
26	chr15:75109400-75111600	Enhancers	K562	blood
27	chr15:75109400-75113800	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr15:75109600-75111400	Enhancers	NHDF-Ad	bronchial
29	chr15:75109600-75113200	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr15:75109600-75113600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr15:75109800-75111400	Enhancers	Muscle Satellite Cultured Cells	--
32	chr15:75109800-75112000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr15:75109800-75113000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr15:75109800-75116800	Weak transcription	Brain Anterior Caudate	brain
35	chr15:75110000-75111200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr15:75110000-75111200	Weak transcription	Fetal Intestine Large	intestine
37	chr15:75110000-75111400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
38	chr15:75110000-75113000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr15:75110000-75113000	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr15:75110400-75111200	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr15:75110400-75111400	Enhancers	Gastric	stomach
42	chr15:75110400-75111800	Enhancers	A549	lung
43	chr15:75110600-75111400	Enhancers	NHLF	lung
44	chr15:75110600-75111600	Enhancers	Primary monocytes fromperipheralblood	blood
45	chr15:75110600-75111600	Enhancers	Monocytes-CD14+_RO01746	blood
46	chr15:75110600-75111800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
47	chr15:75110600-75111800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
48	chr15:75110600-75111800	Enhancers	Sigmoid Colon	Sigmoid Colon
49	chr15:75110800-75111200	Enhancers	HepG2	liver
50	chr15:75110800-75111400	Enhancers	Primary T killer memory cells from peripheral blood	blood

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