Variant report

Variant	rs11633520
Chromosome Location	chr15:74284805-74284806
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:486)
CpG islands
(count:122)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:486 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCLAF1	chr15:74284461-74284981	GM12878	blood:	n/a	chr15:74284585-74284598
2	CTCF	chr15:74284660-74284810	GM12874	blood:	n/a	n/a
3	CTCF	chr15:74284557-74284881	Hela-S3	cervix:	n/a	n/a
4	CTCF	chr15:74284700-74284850	GM12864	blood:	n/a	n/a
5	POLR2A	chr15:74284471-74284822	A549	lung:	n/a	n/a
6	CTCF	chr15:74284680-74284830	GM12875	blood:	n/a	n/a
7	POLR2A	chr15:74284339-74284921	GM19193	blood:	n/a	n/a
8	GATA3	chr15:74284491-74284837	T-47D	breast:	n/a	n/a
9	IRF1	chr15:74283930-74284890	K562	blood:	n/a	chr15:74284629-74284643 chr15:74284114-74284127 chr15:74284114-74284128
10	CTCF	chr15:74284660-74284810	BE2_C	brain:	n/a	n/a
11	HEY1	chr15:74284444-74284962	K562	blood:	n/a	chr15:74284588-74284603 chr15:74284599-74284614
12	PML	chr15:74284371-74284941	MCF-7	breast:	n/a	n/a
13	ETS1	chr15:74284450-74284870	GM12878	blood:	n/a	chr15:74284653-74284662 chr15:74284649-74284659
14	POLR2A	chr15:74284423-74284851	Hela-S3	cervix:	n/a	n/a
15	STAT5A	chr15:74284365-74284962	GM12878	blood:	n/a	n/a
16	CTCF	chr15:74284700-74284850	MCF-7	breast:	n/a	n/a
17	CTCF	chr15:74284720-74284870	GM06990	blood:	n/a	n/a
18	EGR1	chr15:74284494-74284949	H1-hESC	embryonic stem cell:	n/a	chr15:74284633-74284643
19	YY1	chr15:74284464-74284810	GM12891	blood:	n/a	n/a
20	SIN3AK20	chr15:74284067-74285006	MCF-7	breast:	n/a	n/a
21	SIX5	chr15:74284519-74284885	GM12878	blood:	n/a	n/a
22	CTCF	chr15:74284700-74284850	K562	blood:	n/a	n/a
23	RUNX3	chr15:74284379-74284918	GM12878	blood:	n/a	n/a
24	CTCF	chr15:74284700-74284850	SK-N-SH_RA	brain:	n/a	n/a
25	CTCF	chr15:74284660-74284810	WERI-Rb-1	eye:	n/a	n/a
26	CTCF	chr15:74284601-74284863	LNCaP	prostate:	n/a	n/a
27	E2F4	chr15:74284464-74284839	MCF10A-Er-Src	breast:	n/a	chr15:74284587-74284596
28	ETS1	chr15:74284224-74284939	K562	blood:	n/a	chr15:74284653-74284662 chr15:74284649-74284659
29	CTCF	chr15:74284589-74284891	A549	lung:	n/a	n/a
30	TCF7L2	chr15:74284562-74284830	PANC-1	pancreas:	n/a	n/a
31	CTCF	chr15:74284680-74284830	Hela-S3	cervix:	n/a	n/a
32	CTCF	chr15:74284720-74284870	GM12864	blood:	n/a	n/a
33	JUND	chr15:74284516-74284820	H1-hESC	embryonic stem cell:	n/a	n/a
34	CTCF	chr15:74284680-74284830	GM12871	blood:	n/a	n/a
35	STAT1	chr15:74284543-74284895	GM12878	blood:	n/a	n/a
36	MXI1	chr15:74284353-74284808	H1-hESC	embryonic stem cell:	n/a	n/a
37	CTCFL	chr15:74284523-74284825	K562	blood:	n/a	chr15:74284738-74284747
38	ETS1	chr15:74284424-74284922	GM12878	blood:	n/a	chr15:74284653-74284662 chr15:74284649-74284659
39	CTCF	chr15:74284680-74284830	GM12872	blood:	n/a	n/a
40	PAX5	chr15:74284542-74284838	GM12878	blood:	n/a	n/a
41	FOXP2	chr15:74284443-74284841	PFSK-1	brain:	n/a	n/a
42	WRNIP1	chr15:74284512-74284851	GM12878	blood:	n/a	n/a
43	MTA3	chr15:74284355-74284999	GM12878	blood:	n/a	n/a
44	MAX	chr15:74284395-74284869	HepG2	liver:	n/a	chr15:74284632-74284642 chr15:74284398-74284408
45	MAX	chr15:74284390-74284872	GM12878	blood:	n/a	chr15:74284632-74284642 chr15:74284398-74284408
46	CTCF	chr15:74284680-74284830	GM12874	blood:	n/a	n/a
47	POLR2A	chr15:74284290-74284978	GM12892	blood:	n/a	n/a
48	CTCF	chr15:74284700-74284850	GM12873	blood:	n/a	n/a
49	CHD2	chr15:74284424-74284896	Hela-S3	cervix:	n/a	chr15:74284583-74284593
50	CTCF	chr15:74284506-74284932	T-47D	breast:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:74284791-74284841	MCF10A-Er-Src	breast:	n/a
2	chr15:74284791-74284841	AG09319	gingival:	n/a
3	chr15:74284791-74284841	PrEC	prostate:	n/a
4	chr15:74284791-74284841	HNPCEpiC	eye:	n/a
5	chr15:74284801-74284851	AG09319	gingival:	n/a
6	chr15:74284801-74284851	U87	brain:	n/a
7	chr15:74284801-74284851	ovcar-3	ovarian:	n/a
8	chr15:74284801-74284851	HEEpiC	esophagus:	n/a
9	chr15:74284791-74284841	HAEpiC	amniotic membrane:	n/a
10	chr15:74284791-74284841	HRCEpiC	kidney:	n/a
11	chr15:74284791-74284841	GM19239	blood:	n/a
12	chr15:74284801-74284851	GM12891	blood:	n/a
13	chr15:74284801-74284851	SK-N-SH	brain:	n/a
14	chr15:74284791-74284841	HL-60	blood:	n/a
15	chr15:74284801-74284851	HCT-116	colon:	n/a
16	chr15:74284791-74284841	HEK293	kidney:	embryo
17	chr15:74284801-74284851	HIPEpiC	eye:	n/a
18	chr15:74284801-74284851	HPAEpiC	pulmonary alveolar:	n/a
19	chr15:74284791-74284841	HEEpiC	esophagus:	n/a
20	chr15:74284791-74284841	SKMC	muscle:	n/a
21	chr15:74284791-74284841	PANC-1	pancreas:	n/a
22	chr15:74284801-74284851	BJ	skin:	n/a
23	chr15:74284791-74284841	HIPEpiC	eye:	n/a
24	chr15:74284801-74284851	Hepatocyte	liver:	n/a
25	chr15:74284791-74284841	GM12878	blood:	n/a
26	chr15:74284801-74284851	Caco-2	colon:	n/a
27	chr15:74284791-74284841	HPAEpiC	pulmonary alveolar:	n/a
28	chr15:74284791-74284841	MCF-7	breast:	n/a
29	chr15:74284801-74284851	HRE	kidney:	n/a
30	chr15:74284801-74284851	HCPEpiC	choroid plexus:	n/a
31	chr15:74284801-74284851	NB4	blood:	n/a
32	chr15:74284791-74284841	SK-N-SH_RA	brain:	n/a
33	chr15:74284801-74284851	AG04450	lung:	fetal
34	chr15:74284801-74284851	RPTEC	kidney:	n/a
35	chr15:74284801-74284851	NHDF-neo	bronchial:	n/a
36	chr15:74284791-74284841	ProgFib	skin:	n/a
37	chr15:74284791-74284841	AG09309	skin:	n/a
38	chr15:74284791-74284841	AG04449	skin:	fetal
39	chr15:74284801-74284851	SAEC	small airway:	n/a
40	chr15:74284801-74284851	AoSMC	blood vessel:	n/a
41	chr15:74284791-74284841	Hepatocyte	liver:	n/a
42	chr15:74284801-74284851	HAEpiC	amniotic membrane:	n/a
43	chr15:74284801-74284851	HUVEC	blood vessel:	n/a
44	chr15:74284801-74284851	NH-A	brain:	n/a
45	chr15:74284791-74284841	GM06990	blood:	n/a
46	chr15:74284791-74284841	HepG2	liver:	n/a
47	chr15:74284801-74284851	T-47D	breast:	n/a
48	chr15:74284791-74284841	Hela-S3	cervix:	n/a
49	chr15:74284791-74284841	RPTEC	kidney:	n/a
50	chr15:74284801-74284851	Jurkat	blood:	n/a

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:74284343..74287090-chr15:74322488..74325455,2	K562	blood:
2	chr15:74281335..74284539-chr15:74284801..74290369,7	MCF-7	breast:
3	chr15:74284750..74286727-chr15:74339557..74341307,2	K562	blood:
4	chr15:74276805..74281902-chr15:74284117..74288991,5	K562	blood:
5	chr15:74283818..74286051-chr15:74906696..74909135,2	MCF-7	breast:
6	chr15:74278701..74281213-chr15:74283008..74286318,3	MCF-7	breast:

No data

Variant related genes	Relation type
PML	TF binding region
STOML1	TF binding region
STOML1	CpG island
PML	CpG island
ENSG00000260919	Chromatin interaction
ENSG00000067221	Chromatin interaction
ENSG00000179335	Chromatin interaction
ENSG00000140464	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10162627	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11072460	0.81[AFR][1000 genomes]
rs11072464	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11072465	0.89[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11072466	0.89[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11072467	0.89[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11072469	0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11636016	0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12592370	0.89[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12593528	0.81[EUR][1000 genomes]
rs12901603	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12904213	0.90[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12908748	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12912395	0.86[ASN][1000 genomes]
rs12917179	0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2304715	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2304717	0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2304718	0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2415188	0.81[AFR][1000 genomes]
rs3784561	0.81[EUR][1000 genomes]
rs3784562	0.81[EUR][1000 genomes]
rs4886820	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4886844	0.90[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs734854	0.81[AMR][1000 genomes]
rs8027774	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8028557	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs8039276	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8043489	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9630436	0.81[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	esv2758387	chr15:74215114-74464916	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	esv2760040	chr15:74215114-74464916	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv428308	chr15:74215114-74464916	Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv833052	chr15:74250378-74377150	Genic enhancers Enhancers Transcr. at gene 5' and 3' Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11633520	STOML1	cis	Esophagus Mucosa	GTEx

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:74282800-74285800	Flanking Active TSS	Adipose Nuclei	Adipose
2	chr15:74283000-74285200	Enhancers	Fetal Heart	heart
3	chr15:74283200-74285400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr15:74283400-74285000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr15:74283600-74285200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr15:74283600-74285200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
7	chr15:74283800-74285000	Active TSS	H9 Cell Line	embryonic stem cell
8	chr15:74283800-74285000	Active TSS	Fetal Kidney	kidney
9	chr15:74283800-74285000	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr15:74283800-74285000	Active TSS	Psoas Muscle	Psoas
11	chr15:74283800-74285200	Flanking Active TSS	Primary hematopoietic stem cells	blood
12	chr15:74284000-74285000	Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr15:74284000-74285000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr15:74284000-74285000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
15	chr15:74284000-74285000	Active TSS	Ovary	ovary
16	chr15:74284000-74285000	Active TSS	HepG2	liver
17	chr15:74284000-74285200	Active TSS	Brain Germinal Matrix	brain
18	chr15:74284200-74285000	Active TSS	iPS-20b Cell Line	embryonic stem cell
19	chr15:74284200-74285000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr15:74284200-74285000	Active TSS	Primary T killer memory cells from peripheral blood	blood
21	chr15:74284200-74285000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr15:74284200-74285000	Active TSS	Brain Cingulate Gyrus	brain
23	chr15:74284200-74285000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
24	chr15:74284200-74285000	Active TSS	Colon Smooth Muscle	Colon
25	chr15:74284200-74285000	Active TSS	Duodenum Smooth Muscle	Duodenum
26	chr15:74284200-74285000	Active TSS	Fetal Brain Female	brain
27	chr15:74284400-74285000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr15:74284400-74285200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr15:74284400-74286200	Enhancers	Fetal Brain Male	brain
30	chr15:74284600-74285000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr15:74284600-74285000	Enhancers	Aorta	Aorta
32	chr15:74284600-74285000	Flanking Active TSS	Colonic Mucosa	Colon
33	chr15:74284600-74285000	Weak transcription	NHLF	lung
34	chr15:74284600-74285400	Weak transcription	NHDF-Ad	bronchial
35	chr15:74284600-74286200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr15:74284600-74286400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr15:74284600-74286400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr15:74284600-74286400	Weak transcription	Small Intestine	intestine
39	chr15:74284600-74286600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
40	chr15:74284600-74286600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr15:74284600-74286600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr15:74284600-74286600	Enhancers	Gastric	stomach
43	chr15:74284600-74286600	Enhancers	Lung	lung
44	chr15:74284600-74286600	Enhancers	Placenta Amnion	Placenta Amnion
45	chr15:74284600-74286600	Enhancers	Spleen	Spleen
46	chr15:74284800-74285000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr15:74284800-74285000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr15:74284800-74285000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
49	chr15:74284800-74285000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
50	chr15:74284800-74285000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell

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