Variant report

Variant	rs351224
Chromosome Location	chr15:74487036-74487037
allele	A/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	EBF1	chr15:74486827-74487093	GM12878	blood:	n/a	n/a
2	BATF	chr15:74486777-74487103	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:74485403..74487595-chr15:74523951..74526382,2	K562	blood:
2	chr15:74481853..74488513-chr15:74489689..74497281,13	MCF-7	breast:
3	chr15:74483505..74486452-chr15:74486727..74489080,2	MCF-7	breast:
4	chr15:74473602..74475447-chr15:74485969..74488494,2	MCF-7	breast:

Variant related genes	Relation type
STRA6	TF binding region
ENSG00000137868	Chromatin interaction
ENSG00000259264	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10851870	0.86[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs17386715	0.81[CEU][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2629727	0.89[CEU][hapmap];0.85[YRI][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs351156	0.82[AFR][1000 genomes]
rs351219	1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs351220	0.97[ASN][1000 genomes]
rs351222	0.95[CHB][hapmap];0.94[JPT][hapmap];0.81[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs351223	1.00[ASW][hapmap];0.92[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.93[LWK][hapmap];0.90[MEX][hapmap];0.80[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs531491	0.94[ASW][hapmap];0.85[MEX][hapmap];0.89[TSI][hapmap];0.89[YRI][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833053	chr15:74360156-74555140	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv1050884	chr15:74394983-74489413	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv833054	chr15:74457643-74625283	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv904345	chr15:74458181-74526596	Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv904346	chr15:74458181-74548773	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv904347	chr15:74462629-74537101	Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv904348	chr15:74462629-74542686	Genic enhancers Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:74466200-74492800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr15:74469200-74491800	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr15:74469400-74487600	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr15:74469400-74493200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr15:74470800-74492800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr15:74473600-74488200	Weak transcription	Right Atrium	heart
7	chr15:74474600-74487200	Weak transcription	Fetal Intestine Small	intestine
8	chr15:74478600-74491400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr15:74480600-74491800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr15:74481000-74488400	Weak transcription	Right Ventricle	heart
11	chr15:74482800-74488000	Strong transcription	Fetal Stomach	stomach
12	chr15:74483800-74488200	Enhancers	Hela-S3	cervix
13	chr15:74484000-74490000	Enhancers	HSMM	muscle
14	chr15:74484600-74487400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr15:74484800-74487600	Enhancers	GM12878-XiMat	blood
16	chr15:74484800-74488800	Enhancers	Muscle Satellite Cultured Cells	--
17	chr15:74485000-74487200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr15:74485000-74487400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr15:74485000-74487600	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr15:74485000-74488200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr15:74485000-74489800	Enhancers	NH-A	brain
22	chr15:74485200-74487200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr15:74485200-74487600	Weak transcription	Lung	lung
24	chr15:74485200-74488000	Genic enhancers	A549	lung
25	chr15:74485400-74487600	Weak transcription	Fetal Muscle Leg	muscle
26	chr15:74485400-74493000	Weak transcription	Fetal Thymus	thymus
27	chr15:74485800-74491000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr15:74485800-74492600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr15:74486000-74488400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr15:74486000-74490200	Enhancers	Esophagus	oesophagus
31	chr15:74486200-74487600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr15:74486200-74488000	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr15:74486400-74487400	Strong transcription	Placenta	Placenta
34	chr15:74486400-74488400	Weak transcription	NHDF-Ad	bronchial
35	chr15:74486400-74491400	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr15:74486600-74487600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr15:74486600-74487600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr15:74486600-74488000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr15:74486600-74488400	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr15:74486600-74488400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr15:74486800-74487800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr15:74486800-74488000	Strong transcription	HUES6 Cell Line	embryonic stem cell
43	chr15:74486800-74488200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr15:74486800-74488400	Weak transcription	HMEC	breast
45	chr15:74486800-74488600	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr15:74486800-74488600	Weak transcription	NHLF	lung
47	chr15:74487000-74488200	Weak transcription	Osteobl	bone
48	chr15:74487000-74488400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr15:74487000-74488600	Weak transcription	NHEK	skin

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