Variant report

Variant	rs12102136
Chromosome Location	chr15:76026852-76026853
allele	A/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	EBF1	chr15:76026809-76027043	GM12878	blood:	n/a	chr15:76026959-76026970
2	EBF1	chr15:76026795-76027119	GM12878	blood:	n/a	chr15:76026959-76026970
3	USF1	chr15:76026791-76026988	GM12878	blood:	n/a	n/a
4	USF1	chr15:76026770-76027133	ECC-1	luminal epithelium:	n/a	n/a
5	USF1	chr15:76026788-76027049	ECC-1	luminal epithelium:	n/a	n/a
6	EBF1	chr15:76026755-76027037	GM12878	blood:	n/a	chr15:76026959-76026970
7	BHLHE40	chr15:76026708-76027114	GM12878	blood:	n/a	n/a
8	PAX5	chr15:76026801-76027013	GM12878	blood:	n/a	n/a
9	USF1	chr15:76026753-76027018	K562	blood:	n/a	n/a
10	USF2	chr15:76026779-76027081	GM12878	blood:	n/a	n/a
11	PAX5	chr15:76026769-76027022	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:76021736..76024634-chr15:76026770..76028436,2	MCF-7	breast:
2	chr15:76026055..76028108-chr15:76032882..76034389,2	K562	blood:
3	chr15:75985273..75987777-chr15:76025449..76027210,2	K562	blood:

Variant related genes	Relation type
ENSG00000256530	TF binding region
ENSG00000260288	TF binding region

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs16967294	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16967508	1.00[EUR][1000 genomes]
rs28372561	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28395383	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28396803	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28398053	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28412110	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28413637	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28414758	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28420558	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28432282	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28447345	1.00[EUR][1000 genomes]
rs28450740	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28461701	1.00[EUR][1000 genomes]
rs28504376	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28505697	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28510991	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28519586	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28521156	1.00[EUR][1000 genomes]
rs28530778	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28533248	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28550881	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28567605	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28628290	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28628820	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28645531	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28664638	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28677951	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28695912	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28711283	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28727341	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3991368	1.00[AMR][1000 genomes]
rs56686272	1.00[AMR][1000 genomes]
rs57267837	1.00[AMR][1000 genomes]
rs58167659	1.00[AMR][1000 genomes]
rs58689645	1.00[AMR][1000 genomes]
rs58840197	1.00[EUR][1000 genomes]
rs59944002	1.00[AMR][1000 genomes]
rs60159975	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60465775	1.00[AMR][1000 genomes]
rs60544586	1.00[AMR][1000 genomes]
rs73439281	1.00[AMR][1000 genomes]
rs73439290	1.00[AMR][1000 genomes]
rs73439302	1.00[AMR][1000 genomes]
rs73442996	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73444997	1.00[AMR][1000 genomes]
rs74026527	1.00[EUR][1000 genomes]
rs8026666	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs8033538	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8041384	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	esv3445070	chr15:75623136-76045948	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
2	nsv531903	chr15:75889302-76342128	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
3	nsv527186	chr15:75924443-76107730	Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	69 gene(s)	inside rSNPs	diseases
4	nsv904392	chr15:75930757-76039262	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
5	nsv904394	chr15:75948671-76039262	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv904396	chr15:75961518-76071105	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:76013800-76029800	Weak transcription	HSMM	muscle
2	chr15:76020600-76030200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr15:76021000-76030200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr15:76021000-76030200	Weak transcription	HMEC	breast
5	chr15:76021400-76029600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr15:76022000-76028800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr15:76023800-76027000	Enhancers	Placenta	Placenta
8	chr15:76024000-76027200	Enhancers	Fetal Kidney	kidney
9	chr15:76024200-76027800	Enhancers	Spleen	Spleen
10	chr15:76024200-76029400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr15:76024200-76029400	Weak transcription	Fetal Brain Female	brain
12	chr15:76024400-76027000	Enhancers	Rectal Smooth Muscle	rectum
13	chr15:76024400-76030400	Weak transcription	Primary B cells from cord blood	blood
14	chr15:76024600-76030200	Weak transcription	Brain Hippocampus Middle	brain
15	chr15:76024800-76029600	Weak transcription	Brain Germinal Matrix	brain
16	chr15:76024800-76030400	Weak transcription	Primary hematopoietic stem cells	blood
17	chr15:76025000-76030200	Weak transcription	NHDF-Ad	bronchial
18	chr15:76025000-76030400	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr15:76025200-76027200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr15:76025200-76027200	Enhancers	Placenta Amnion	Placenta Amnion
21	chr15:76025200-76027800	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr15:76025200-76028200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr15:76025200-76028800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr15:76025200-76029200	Weak transcription	Brain Angular Gyrus	brain
25	chr15:76025200-76030200	Weak transcription	Colonic Mucosa	Colon
26	chr15:76025200-76030200	Weak transcription	Fetal Heart	heart
27	chr15:76025200-76030200	Weak transcription	Fetal Intestine Large	intestine
28	chr15:76025200-76030400	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr15:76025200-76030400	Weak transcription	Right Atrium	heart
30	chr15:76025400-76027000	Enhancers	Colon Smooth Muscle	Colon
31	chr15:76025400-76027200	Enhancers	Stomach Smooth Muscle	stomach
32	chr15:76025400-76027200	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr15:76025400-76028600	Weak transcription	Esophagus	oesophagus
34	chr15:76025400-76028800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr15:76025400-76029400	Weak transcription	Adipose Nuclei	Adipose
36	chr15:76025400-76029600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr15:76025400-76030200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr15:76025400-76030200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr15:76025400-76030200	Weak transcription	Primary T helper cells fromperipheralblood	blood
40	chr15:76025400-76030200	Weak transcription	K562	blood
41	chr15:76025400-76030400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr15:76025600-76027600	Weak transcription	Fetal Thymus	thymus
43	chr15:76025600-76028600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr15:76025600-76028800	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr15:76025600-76028800	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr15:76025600-76028800	Weak transcription	Stomach Mucosa	stomach
47	chr15:76025600-76029400	Weak transcription	Fetal Brain Male	brain
48	chr15:76025600-76029600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr15:76025600-76029600	Weak transcription	Liver	Liver
50	chr15:76025600-76029800	Weak transcription	HUES48 Cell Line	embryonic stem cell

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