Variant report

Variant	rs3784291
Chromosome Location	chr15:50475335-50475336
allele	G/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	MAX	chr15:50473527-50475924	MCF-7	breast:	n/a	chr15:50474123-50474132 chr15:50474330-50474337 chr15:50474511-50474520
2	SMARCC1	chr15:50473774-50476040	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr15:50473952-50475413	H1-hESC	embryonic stem cell:	n/a	n/a
4	SMC3	chr15:50474095-50476014	Hela-S3	cervix:	n/a	chr15:50474366-50474380
5	MAX	chr15:50474087-50475975	Hela-S3	cervix:	n/a	chr15:50474123-50474132 chr15:50474330-50474337 chr15:50474511-50474520
6	MAX	chr15:50474113-50475356	HepG2	liver:	n/a	chr15:50474123-50474132 chr15:50474330-50474337 chr15:50474511-50474520
7	MYC	chr15:50474126-50475994	NB4	blood:	n/a	chr15:50474330-50474337 chr15:50474511-50474520
8	MAX	chr15:50474133-50475981	NB4	blood:	n/a	chr15:50474330-50474337 chr15:50474511-50474520
9	POLR2A	chr15:50474157-50475342	NB4	blood:	n/a	n/a
10	MAX	chr15:50473595-50475412	MCF-7	breast:	n/a	chr15:50474123-50474132 chr15:50474330-50474337 chr15:50474511-50474520
11	HA-E2F1	chr15:50473931-50475953	MCF-7	breast:	n/a	chr15:50474373-50474382
12	RCOR1	chr15:50474129-50476016	Hela-S3	cervix:	n/a	n/a
13	RFX5	chr15:50474218-50475961	Hela-S3	cervix:	n/a	chr15:50474408-50474417
14	GTF2F1	chr15:50474908-50475987	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr15:50473723-50475990	Hela-S3	cervix:	n/a	n/a
16	ELF1	chr15:50473606-50476198	MCF-7	breast:	n/a	chr15:50474375-50474387 chr15:50474439-50474451
17	POLR2A	chr15:50474139-50476125	Hela-S3	cervix:	n/a	n/a
18	HDAC2	chr15:50473644-50476019	MCF-7	breast:	n/a	n/a
19	ZEB1	chr15:50474098-50475411	HepG2	liver:	n/a	n/a
20	MXI1	chr15:50474135-50475997	Hela-S3	cervix:	n/a	n/a
21	RAD21	chr15:50474226-50475997	Hela-S3	cervix:	n/a	chr15:50474366-50474380 chr15:50474365-50474384
22	E2F6	chr15:50473853-50475364	H1-hESC	embryonic stem cell:	n/a	chr15:50474373-50474382
23	MAX	chr15:50473990-50475375	A549	lung:	n/a	chr15:50474123-50474132 chr15:50474330-50474337 chr15:50474511-50474520

No.	Distal block	Cell Line	Cell type
1	chr15:50475267..50477449-chr15:50487507..50490048,2	K562	blood:
2	chr15:50473541..50475661-chr15:50496786..50499425,2	MCF-7	breast:
3	chr15:50475076..50477234-chr15:50491575..50493600,2	MCF-7	breast:
4	chr15:50473948..50476834-chr15:50511893..50514231,2	MCF-7	breast:
5	chr15:50471646..50476620-chr15:50646050..50650091,9	MCF-7	breast:
6	chr15:50473235..50476211-chr15:50645559..50648841,7	MCF-7	breast:

Variant related genes	Relation type
ATP8B4	TF binding region
ENSG00000140284	Chromatin interaction
ENSG00000104064	Chromatin interaction
ENSG00000244879	Chromatin interaction
ENSG00000200605	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1365506	0.91[ASN][1000 genomes]
rs16963400	0.91[ASN][1000 genomes]
rs16963414	1.00[EUR][1000 genomes]
rs16963459	1.00[EUR][1000 genomes]
rs16963481	1.00[EUR][1000 genomes]
rs16963485	1.00[EUR][1000 genomes]
rs16963493	1.00[EUR][1000 genomes]
rs16963496	1.00[EUR][1000 genomes]
rs17848325	1.00[EUR][1000 genomes]
rs2238294	1.00[EUR][1000 genomes]
rs58548530	1.00[EUR][1000 genomes]
rs60425623	1.00[EUR][1000 genomes]
rs61699680	1.00[EUR][1000 genomes]
rs7163360	1.00[EUR][1000 genomes]
rs7163895	1.00[EUR][1000 genomes]
rs73395108	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73409113	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044277	chr15:49921547-50702386	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv542380	chr15:49921547-50702386	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv1035983	chr15:50223334-50595170	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv542382	chr15:50223334-50595170	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv904209	chr15:50444824-50482133	Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:50473600-50475600	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr15:50473800-50475600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
3	chr15:50473800-50475800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
4	chr15:50474000-50475400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
5	chr15:50474000-50475400	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr15:50474000-50475400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr15:50474000-50475400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr15:50474000-50475400	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
9	chr15:50474000-50475400	Bivalent/Poised TSS	Fetal Stomach	stomach
10	chr15:50474000-50475600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr15:50474000-50475800	Flanking Active TSS	Primary hematopoietic stem cells	blood
12	chr15:50474000-50476000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
13	chr15:50474000-50476000	Bivalent/Poised TSS	Fetal Intestine Large	intestine
14	chr15:50474000-50476000	Bivalent/Poised TSS	Fetal Kidney	kidney
15	chr15:50474000-50476000	Active TSS	Rectal Mucosa Donor 31	rectum
16	chr15:50474000-50476200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr15:50474200-50475400	Active TSS	Primary T helper naive cells from peripheral blood	blood
18	chr15:50474200-50475400	Bivalent/Poised TSS	Small Intestine	intestine
19	chr15:50474200-50475400	Active TSS	Hela-S3	cervix
20	chr15:50474200-50477400	Active TSS	Liver	Liver
21	chr15:50474400-50475400	Active TSS	Rectal Mucosa Donor 29	rectum
22	chr15:50474400-50475600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr15:50474600-50475400	Flanking Bivalent TSS/Enh	NH-A	brain
24	chr15:50474600-50475600	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
25	chr15:50474600-50475800	Flanking Active TSS	Pancreas	Pancrea
26	chr15:50474800-50475400	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr15:50474800-50475400	Flanking Active TSS	Primary B cells from cord blood	blood
28	chr15:50474800-50475400	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
29	chr15:50474800-50475400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr15:50474800-50475400	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
31	chr15:50474800-50475400	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
32	chr15:50474800-50475400	Flanking Active TSS	Esophagus	oesophagus
33	chr15:50474800-50475400	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
34	chr15:50474800-50475400	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
35	chr15:50474800-50475400	Flanking Bivalent TSS/Enh	NHEK	skin
36	chr15:50474800-50475800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
37	chr15:50474800-50476000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr15:50475000-50475400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
39	chr15:50475000-50475400	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
40	chr15:50475000-50475400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
41	chr15:50475000-50475400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
42	chr15:50475000-50475400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
43	chr15:50475000-50475400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
44	chr15:50475000-50475400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
45	chr15:50475000-50475400	Flanking Active TSS	Brain Angular Gyrus	brain
46	chr15:50475000-50475400	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
47	chr15:50475000-50475400	Flanking Bivalent TSS/Enh	Brain Inferior Temporal Lobe	brain
48	chr15:50475000-50475400	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
49	chr15:50475000-50475600	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
50	chr15:50475000-50475600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood

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