Variant report

Variant	rs2304715
Chromosome Location	chr15:74284406-74284407
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:74284366-74284786	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr15:74284339-74284921	GM19193	blood:	n/a	n/a
3	IRF1	chr15:74283930-74284890	K562	blood:	n/a	chr15:74284629-74284643 chr15:74284114-74284127 chr15:74284114-74284128
4	PML	chr15:74284371-74284941	MCF-7	breast:	n/a	n/a
5	POLR2A	chr15:74284009-74284618	K562	blood:	n/a	n/a
6	STAT5A	chr15:74284365-74284962	GM12878	blood:	n/a	n/a
7	POLR2A	chr15:74284365-74284692	GM12878	blood:	n/a	n/a
8	TAL1	chr15:74283888-74284406	K562	blood:	n/a	chr15:74284197-74284205
9	SIN3AK20	chr15:74284067-74285006	MCF-7	breast:	n/a	n/a
10	RUNX3	chr15:74284379-74284918	GM12878	blood:	n/a	n/a
11	ETS1	chr15:74284224-74284939	K562	blood:	n/a	chr15:74284653-74284662 chr15:74284649-74284659
12	POLR2A	chr15:74284352-74284792	HUVEC	blood vessel:	n/a	n/a
13	MXI1	chr15:74284353-74284808	H1-hESC	embryonic stem cell:	n/a	n/a
14	MTA3	chr15:74284355-74284999	GM12878	blood:	n/a	n/a
15	MAX	chr15:74284395-74284869	HepG2	liver:	n/a	chr15:74284632-74284642 chr15:74284398-74284408
16	MAX	chr15:74284390-74284872	GM12878	blood:	n/a	chr15:74284632-74284642 chr15:74284398-74284408
17	POLR2A	chr15:74284290-74284978	GM12892	blood:	n/a	n/a
18	POLR2A	chr15:74283943-74284961	K562	blood:	n/a	n/a
19	POLR2A	chr15:74283688-74284776	K562	blood:	n/a	n/a
20	MAX	chr15:74284401-74284953	H1-hESC	embryonic stem cell:	n/a	chr15:74284632-74284642
21	POLR2A	chr15:74284346-74285018	SK-N-SH	brain:	n/a	n/a
22	POLR2A	chr15:74284400-74284969	NB4	blood:	n/a	n/a
23	RCOR1	chr15:74283743-74284890	K562	blood:	n/a	n/a
24	POLR2A	chr15:74284352-74284917	GM12878	blood:	n/a	n/a
25	TCF3	chr15:74284402-74284903	GM12878	blood:	n/a	n/a
26	CCNT2	chr15:74284009-74284897	K562	blood:	n/a	n/a
27	SIN3AK20	chr15:74284212-74285068	MCF-7	breast:	n/a	n/a
28	MAX	chr15:74284345-74284998	ECC-1	luminal epithelium:	n/a	chr15:74284632-74284642 chr15:74284398-74284408
29	SIN3AK20	chr15:74284283-74284897	SK-N-SH	brain:	n/a	n/a
30	POLR2A	chr15:74284330-74284715	GM12891	blood:	n/a	n/a
31	SIN3AK20	chr15:74284207-74284947	PANC-1	pancreas:	n/a	n/a
32	SIN3AK20	chr15:74284401-74284774	HepG2	liver:	n/a	n/a
33	SIN3AK20	chr15:74284400-74284822	PFSK-1	brain:	n/a	n/a
34	POLR2A	chr15:74283680-74285040	K562	blood:	n/a	n/a
35	MXI1	chr15:74284264-74284883	Hela-S3	cervix:	n/a	n/a
36	HCFC1	chr15:74283453-74285154	Hela-S3	cervix:	n/a	n/a
37	MAX	chr15:74283719-74284919	K562	blood:	n/a	chr15:74284632-74284642 chr15:74284398-74284408
38	POLR2A	chr15:74284359-74284903	GM19099	blood:	n/a	n/a
39	MAX	chr15:74284364-74284929	A549	lung:	n/a	chr15:74284632-74284642 chr15:74284398-74284408
40	POLR2A	chr15:74284309-74285068	HUVEC	blood vessel:	n/a	n/a
41	CTCF	chr15:74284257-74285210	SK-N-SH	brain:	n/a	chr15:74284266-74284279
42	POLR2A	chr15:74284346-74285011	Raji	blood:	n/a	n/a
43	GATA1	chr15:74283743-74285019	K562	blood:	n/a	chr15:74284150-74284166 chr15:74284152-74284164 chr15:74284153-74284162
44	POLR2A	chr15:74284228-74285003	HUVEC	blood vessel:	n/a	n/a
45	ELF1	chr15:74284311-74284873	K562	blood:	n/a	chr15:74284650-74284663 chr15:74284590-74284599 chr15:74284720-74284729 chr15:74284586-74284598 chr15:74284651-74284662 chr15:74284652-74284661 chr15:74284399-74284411
46	MAX	chr15:74284304-74285020	A549	lung:	n/a	chr15:74284632-74284642 chr15:74284398-74284408
47	MXI1	chr15:74283772-74284853	K562	blood:	n/a	n/a
48	TCF12	chr15:74284373-74285074	ECC-1	luminal epithelium:	n/a	n/a
49	YY1	chr15:74284343-74284917	GM12892	blood:	n/a	n/a
50	MAZ	chr15:74283923-74284936	K562	blood:	n/a	chr15:74284632-74284642 chr15:74284398-74284408

No.	Distal block	Cell Line	Cell type
1	chr15:74282640..74284615-chr15:74313984..74316844,2	MCF-7	breast:
2	chr15:74284343..74287090-chr15:74322488..74325455,2	K562	blood:
3	chr15:74281335..74284539-chr15:74284801..74290369,7	MCF-7	breast:
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:

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

Extended variants
information (count: 46 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10162627	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1052242	0.80[AMR][1000 genomes]
rs11072460	0.83[AFR][1000 genomes]
rs11072461	0.81[AMR][1000 genomes]
rs11072462	0.81[AMR][1000 genomes]
rs11072463	0.81[AMR][1000 genomes]
rs11072464	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11072465	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11072466	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11072467	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11072469	0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11633520	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11635930	0.81[AMR][1000 genomes]
rs11636016	0.89[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs11636065	0.80[AMR][1000 genomes]
rs11857498	0.81[AMR][1000 genomes]
rs12592370	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12593528	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12901603	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12902857	0.80[AMR][1000 genomes]
rs12904213	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12908748	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12911807	0.81[AMR][1000 genomes]
rs12912395	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12917179	0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2304717	0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2304718	0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2415188	0.83[AFR][1000 genomes]
rs3784561	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3784562	0.82[EUR][1000 genomes]
rs4886820	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4886844	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4886846	0.80[AMR][1000 genomes]
rs56194867	0.81[AMR][1000 genomes]
rs734854	0.83[AMR][1000 genomes]
rs8027774	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8028557	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs8038991	0.81[AMR][1000 genomes]
rs8039276	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8039404	0.81[AMR][1000 genomes]
rs8043489	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9630436	0.83[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
rs2304715	STOML1	cis	lung	GTEx

Chromatin state (count:127 , 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	chr15:74283400-74284800	Active TSS	Right Atrium	heart
5	chr15:74283400-74285000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr15:74283600-74284600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr15:74283600-74284800	Active TSS	iPS-15b Cell Line	embryonic stem cell
8	chr15:74283600-74285200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr15:74283600-74285200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
10	chr15:74283800-74284600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr15:74283800-74284600	Flanking Active TSS	Primary B cells from cord blood	blood
12	chr15:74283800-74284800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr15:74283800-74284800	Active TSS	HUES48 Cell Line	embryonic stem cell
14	chr15:74283800-74284800	Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr15:74283800-74284800	Active TSS	iPS-18 Cell Line	embryonic stem cell
16	chr15:74283800-74284800	Active TSS	Left Ventricle	heart
17	chr15:74283800-74285000	Active TSS	H9 Cell Line	embryonic stem cell
18	chr15:74283800-74285000	Active TSS	Fetal Kidney	kidney
19	chr15:74283800-74285000	Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr15:74283800-74285000	Active TSS	Psoas Muscle	Psoas
21	chr15:74283800-74285200	Flanking Active TSS	Primary hematopoietic stem cells	blood
22	chr15:74284000-74284600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
23	chr15:74284000-74284600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr15:74284000-74284600	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr15:74284000-74284600	Active TSS	Aorta	Aorta
26	chr15:74284000-74284600	Active TSS	Gastric	stomach
27	chr15:74284000-74284600	Flanking Active TSS	Placenta Amnion	Placenta Amnion
28	chr15:74284000-74284600	Active TSS	Sigmoid Colon	Sigmoid Colon
29	chr15:74284000-74284600	Flanking Active TSS	Spleen	Spleen
30	chr15:74284000-74284600	Active TSS	NHDF-Ad	bronchial
31	chr15:74284000-74284800	Active TSS	H1 Cell Line	embryonic stem cell
32	chr15:74284000-74284800	Active TSS	Primary T cells from cord blood	blood
33	chr15:74284000-74284800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr15:74284000-74284800	Active TSS	Brain Angular Gyrus	brain
35	chr15:74284000-74284800	Active TSS	Brain Substantia Nigra	brain
36	chr15:74284000-74284800	Active TSS	Esophagus	oesophagus
37	chr15:74284000-74284800	Active TSS	Fetal Intestine Large	intestine
38	chr15:74284000-74284800	Active TSS	Pancreas	Pancrea
39	chr15:74284000-74284800	Active TSS	Right Ventricle	heart
40	chr15:74284000-74284800	Active TSS	A549	lung
41	chr15:74284000-74284800	Active TSS	GM12878-XiMat	blood
42	chr15:74284000-74285000	Active TSS	ES-I3 Cell Line	embryonic stem cell
43	chr15:74284000-74285000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr15:74284000-74285000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
45	chr15:74284000-74285000	Active TSS	Ovary	ovary
46	chr15:74284000-74285000	Active TSS	HepG2	liver
47	chr15:74284000-74285200	Active TSS	Brain Germinal Matrix	brain
48	chr15:74284200-74284600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr15:74284200-74284600	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr15:74284200-74284600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links