Variant report

Variant	rs734854
Chromosome Location	chr15:74281848-74281849
allele	C/T
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	JUN	chr15:74281781-74282036	K562	blood:	n/a	chr15:74281910-74281917 chr15:74281910-74281919 chr15:74281910-74281918
2	FOSL1	chr15:74281584-74282289	HCT-116	colon:	n/a	chr15:74281910-74281917 chr15:74281910-74281919 chr15:74281910-74281918
3	FOS	chr15:74281674-74282087	MCF10A-Er-Src	breast:	n/a	chr15:74281910-74281917 chr15:74281910-74281919 chr15:74281908-74281919 chr15:74281910-74281918
4	JUND	chr15:74280035-74282439	SK-N-SH	brain:	n/a	chr15:74280603-74280614 chr15:74281363-74281374 chr15:74281361-74281371 chr15:74281910-74281917 chr15:74281360-74281372 chr15:74280607-74280615 chr15:74281361-74281371 chr15:74281910-74281919 chr15:74281361-74281371 chr15:74280605-74280617 chr15:74281361-74281371 chr15:74281910-74281918 chr15:74281361-74281370
5	STAT3	chr15:74281769-74282074	MCF10A-Er-Src	breast:	n/a	chr15:74281909-74281918 chr15:74281910-74281919
6	JUND	chr15:74281738-74282085	K562	blood:	n/a	chr15:74281910-74281917 chr15:74281910-74281919 chr15:74281910-74281918
7	MYC	chr15:74281713-74282059	MCF10A-Er-Src	breast:	n/a	chr15:74281909-74281918
8	FOSL2	chr15:74281661-74282201	A549	lung:	n/a	chr15:74281910-74281917 chr15:74281910-74281919 chr15:74281910-74281918
9	POLR2A	chr15:74281677-74282226	U87	brain:	n/a	n/a
10	MXI1	chr15:74281467-74282199	IMR90	lung:	n/a	n/a
11	FOSL2	chr15:74281646-74282078	SK-N-SH	brain:	n/a	chr15:74281910-74281917 chr15:74281910-74281919 chr15:74281910-74281918
12	MAX	chr15:74281679-74282046	SK-N-SH	brain:	n/a	chr15:74281909-74281918
13	FOS	chr15:74281738-74282289	MCF10A-Er-Src	breast:	n/a	chr15:74281910-74281917 chr15:74281910-74281919 chr15:74281908-74281919 chr15:74281910-74281918
14	FOSL2	chr15:74281619-74282196	SK-N-SH	brain:	n/a	chr15:74281910-74281917 chr15:74281910-74281919 chr15:74281910-74281918
15	JUND	chr15:74281730-74282096	Hela-S3	cervix:	n/a	chr15:74281910-74281917 chr15:74281910-74281919 chr15:74281910-74281918
16	POLR2A	chr15:74281656-74282248	U87	brain:	n/a	n/a
17	POLR2A	chr15:74281404-74281877	K562	blood:	n/a	n/a
18	MYC	chr15:74281658-74282060	MCF10A-Er-Src	breast:	n/a	chr15:74281909-74281918
19	TBP	chr15:74281674-74281874	K562	blood:	n/a	n/a
20	FOSL2	chr15:74281773-74282060	HepG2	liver:	n/a	chr15:74281910-74281917 chr15:74281910-74281919 chr15:74281910-74281918
21	POLR2A	chr15:74281836-74282184	HUVEC	blood vessel:	n/a	n/a
22	FOS	chr15:74281742-74282084	MCF10A-Er-Src	breast:	n/a	chr15:74281910-74281917 chr15:74281910-74281919 chr15:74281908-74281919 chr15:74281910-74281918
23	POLR2A	chr15:74281780-74282104	MCF10A-Er-Src	breast:	n/a	n/a
24	POLR2A	chr15:74281728-74282069	HCT-116	colon:	n/a	n/a
25	FOS	chr15:74281725-74282188	MCF10A-Er-Src	breast:	n/a	chr15:74281910-74281917 chr15:74281910-74281919 chr15:74281908-74281919 chr15:74281910-74281918
26	ELF1	chr15:74281734-74282014	K562	blood:	n/a	n/a
27	FOS	chr15:74281696-74282149	HUVEC	blood vessel:	n/a	chr15:74281910-74281917 chr15:74281910-74281919 chr15:74281908-74281919 chr15:74281910-74281918
28	MAX	chr15:74281633-74282124	SK-N-SH	brain:	n/a	chr15:74281909-74281918
29	STAT3	chr15:74281740-74281970	MCF10A-Er-Src	breast:	n/a	chr15:74281909-74281918 chr15:74281910-74281919
30	POLR2A	chr15:74281655-74282175	SK-N-SH	brain:	n/a	n/a
31	POLR2A	chr15:74281601-74282156	HUVEC	blood vessel:	n/a	n/a
32	STAT3	chr15:74281830-74282030	MCF10A-Er-Src	breast:	n/a	chr15:74281909-74281918 chr15:74281910-74281919
33	PBX3	chr15:74281646-74282191	SK-N-SH	brain:	n/a	n/a
34	POLR2A	chr15:74281477-74282264	U87	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:74276805..74281902-chr15:74284117..74288991,5	K562	blood:
2	chr15:74281335..74284539-chr15:74284801..74290369,7	MCF-7	breast:
3	chr15:74218722..74220775-chr15:74280163..74281867,2	MCF-7	breast:

Variant related genes	Relation type
STOML1	TF binding region
ENSG00000140464	Chromatin interaction
ENSG00000067221	Chromatin interaction
ENSG00000261801	Chromatin interaction
ENSG00000129038	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10162627	0.95[MEX][hapmap]
rs1052242	0.90[CHB][hapmap];0.90[CHD][hapmap];0.88[GIH][hapmap];0.95[JPT][hapmap];0.87[MEX][hapmap];0.87[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1052246	0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs10744964	0.84[EUR][1000 genomes]
rs10851866	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10851867	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10851868	0.95[CHB][hapmap];0.90[CHD][hapmap];0.87[GIH][hapmap];0.95[JPT][hapmap];0.83[MEX][hapmap];0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11072458	0.86[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs11072461	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11072462	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11072463	0.96[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11072464	0.95[MEX][hapmap]
rs11072469	0.82[CEU][hapmap]
rs11633520	0.81[AMR][1000 genomes]
rs11633735	0.96[AMR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11635930	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11636016	0.96[CEU][hapmap];0.95[MEX][hapmap];0.85[AMR][1000 genomes]
rs11636065	0.95[CHB][hapmap];0.90[CHD][hapmap];0.88[GIH][hapmap];0.95[JPT][hapmap];0.87[MEX][hapmap];0.87[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11636150	0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11854321	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11857498	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12442211	0.86[CHB][hapmap];0.88[CHD][hapmap];0.83[GIH][hapmap];0.84[JPT][hapmap];0.87[MEX][hapmap]
rs12592370	0.83[MEX][hapmap]
rs12593528	0.88[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12899085	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12902857	0.95[CHB][hapmap];0.90[CHD][hapmap];0.88[GIH][hapmap];0.95[JPT][hapmap];0.87[MEX][hapmap];0.87[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12902945	0.93[AMR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12908748	0.80[AMR][1000 genomes]
rs12910581	0.88[AMR][1000 genomes]
rs12911807	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12911984	0.96[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2165242	0.96[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2277599	0.95[CHB][hapmap];0.90[CHD][hapmap];0.88[GIH][hapmap];0.95[JPT][hapmap];0.83[MEX][hapmap];0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2304715	0.83[AMR][1000 genomes]
rs2304716	0.96[CEU][hapmap];0.95[CHB][hapmap];0.90[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.87[MEX][hapmap];0.91[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2304717	0.83[MEX][hapmap]
rs2304718	0.83[MEX][hapmap]
rs2415206	0.87[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs3784561	0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs3784562	1.00[CHB][hapmap];0.98[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.84[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4287518	0.96[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4547288	0.84[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4886820	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4886844	0.87[MEX][hapmap]
rs4886845	0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4886846	0.87[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs56194867	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7175324	0.81[AMR][1000 genomes]
rs7183908	0.85[ASN][1000 genomes]
rs743580	0.90[ASN][1000 genomes]
rs752004	0.95[CHB][hapmap];0.88[CHD][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs8027327	0.95[CHB][hapmap];0.94[JPT][hapmap];0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs8027447	0.94[CHB][hapmap];0.94[JPT][hapmap];0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs8028557	0.91[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs8038991	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8039404	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9479	0.95[CHB][hapmap];0.88[CHD][hapmap];0.95[JPT][hapmap];0.89[ASN][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:7)

SNP	Gene	Cis/trans	Tissue	Source
rs734854	DMBX1	trans	cerebellum	SCAN
rs734854	STOML1	cis	cerebellum	SCAN
rs734854	BBS4	cis	parietal	SCAN
rs734854	CYP11A1	cis	cerebellum	SCAN
rs734854	ADPGK	cis	parietal	SCAN
rs734854	LARP6	cis	parietal	SCAN
rs734854	STOML1	cis	parietal	SCAN

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:74272600-74283800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr15:74273800-74283600	Enhancers	HMEC	breast
3	chr15:74273800-74283600	Enhancers	NHDF-Ad	bronchial
4	chr15:74273800-74283800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr15:74274600-74284000	Weak transcription	Ovary	ovary
6	chr15:74274800-74283800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr15:74275000-74283600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr15:74275000-74284000	Weak transcription	Aorta	Aorta
9	chr15:74275800-74282800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr15:74276000-74282800	Weak transcription	Fetal Brain Male	brain
11	chr15:74276000-74283400	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr15:74276200-74282800	Genic enhancers	Fetal Muscle Leg	muscle
13	chr15:74276200-74283000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr15:74276600-74282200	Strong transcription	Fetal Brain Female	brain
15	chr15:74276600-74282800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr15:74276600-74283000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr15:74276800-74282000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr15:74277200-74282800	Weak transcription	Rectal Smooth Muscle	rectum
19	chr15:74277600-74283000	Weak transcription	Fetal Lung	lung
20	chr15:74277600-74283400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr15:74277800-74283400	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr15:74277800-74283600	Weak transcription	Primary neutrophils fromperipheralblood	blood
23	chr15:74277800-74283600	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr15:74278000-74282000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr15:74278000-74283400	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr15:74278400-74282200	Strong transcription	Fetal Stomach	stomach
27	chr15:74278400-74283000	Weak transcription	Fetal Heart	heart
28	chr15:74278400-74283000	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr15:74278600-74283000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr15:74278600-74283600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr15:74279200-74282200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr15:74279200-74283000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr15:74279200-74283400	Enhancers	HUVEC	blood vessel
34	chr15:74279400-74282600	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr15:74279400-74283800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr15:74279600-74283200	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr15:74279600-74283800	Enhancers	NH-A	brain
38	chr15:74279800-74282400	Weak transcription	Colon Smooth Muscle	Colon
39	chr15:74279800-74282800	Enhancers	Adipose Nuclei	Adipose
40	chr15:74279800-74283800	Enhancers	Stomach Mucosa	stomach
41	chr15:74280000-74282400	Enhancers	A549	lung
42	chr15:74280000-74283000	Weak transcription	Liver	Liver
43	chr15:74280200-74283600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr15:74280200-74283800	Enhancers	Esophagus	oesophagus
45	chr15:74280200-74284000	Enhancers	Sigmoid Colon	Sigmoid Colon
46	chr15:74280400-74282600	Enhancers	GM12878-XiMat	blood
47	chr15:74280400-74282800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr15:74280400-74282800	Genic enhancers	Left Ventricle	heart
49	chr15:74280400-74283000	Genic enhancers	Skeletal Muscle Male	skeletal muscle
50	chr15:74280600-74282800	Weak transcription	Fetal Intestine Large	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links