Variant report

Variant	rs26172
Chromosome Location	chr5:14581335-14581336
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	MAFK	chr5:14581328-14581426	HepG2	liver:	n/a	n/a
2	MXI1	chr5:14580413-14583453	SK-N-SH	brain:	n/a	n/a
3	TFAP2C	chr5:14580637-14582592	Hela-S3	cervix:	n/a	chr5:14581896-14581911 chr5:14581016-14581031
4	REST	chr5:14581334-14582917	H1-neurons	neurons:	n/a	chr5:14582204-14582214 chr5:14581990-14582003 chr5:14581746-14581764
5	MAX	chr5:14581313-14582916	A549	lung:	n/a	chr5:14581882-14581892
6	SMARCB1	chr5:14581333-14582735	Hela-S3	cervix:	n/a	n/a
7	TFAP2A	chr5:14580683-14582513	Hela-S3	cervix:	n/a	chr5:14581018-14581033 chr5:14581019-14581030 chr5:14581539-14581551 chr5:14582448-14582460 chr5:14582449-14582457 chr5:14581539-14581550 chr5:14581539-14581551 chr5:14581019-14581030 chr5:14581019-14581030 chr5:14582449-14582457 chr5:14582449-14582457 chr5:14581019-14581030
8	MAFK	chr5:14580576-14581573	Hela-S3	cervix:	n/a	chr5:14581156-14581171
9	RCOR1	chr5:14580445-14582019	Hela-S3	cervix:	n/a	n/a
10	SPI1	chr5:14580927-14581396	HL-60	blood:	n/a	chr5:14581154-14581167 chr5:14581154-14581167 chr5:14581155-14581168

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:14497681..14499439-chr5:14580941..14582507,2	MCF-7	breast:

Variant related genes	Relation type
FAM105A	TF binding region
ENSG00000038382	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs13172589	0.89[CHB][hapmap];0.86[JPT][hapmap];0.88[ASN][1000 genomes]
rs152621	0.89[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs152765	0.97[ASN][1000 genomes]
rs25959	0.89[CHB][hapmap];0.86[JPT][hapmap]
rs25960	0.89[CHB][hapmap];0.88[ASN][1000 genomes]
rs25961	0.89[CHB][hapmap];0.84[CHD][hapmap];0.86[JPT][hapmap]
rs26177	1.00[CHB][hapmap];0.84[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.90[ASN][1000 genomes]
rs26179	0.84[ASN][1000 genomes]
rs31971	0.88[ASN][1000 genomes]
rs31972	0.86[ASN][1000 genomes]
rs31974	0.89[CHB][hapmap];0.84[CHD][hapmap];0.86[JPT][hapmap];0.88[ASN][1000 genomes]
rs31975	0.88[CHB][hapmap];0.86[JPT][hapmap];0.88[ASN][1000 genomes]
rs31976	0.90[ASN][1000 genomes]
rs36103605	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026914	chr5:14237782-14751588	Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1018187	chr5:14385164-15127103	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv830211	chr5:14474675-14675776	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv1032951	chr5:14529579-14667342	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	esv1796116	chr5:14572712-14582501	Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
6	nsv523575	chr5:14575698-14581556	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
7	esv1793651	chr5:14575698-14584695	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
8	esv1837962	chr5:14578546-14582501	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
9	esv1837207	chr5:14578799-14582501	Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14575200-14581400	Weak transcription	Pancreas	Pancrea
2	chr5:14580600-14581400	Bivalent Enhancer	Colon Smooth Muscle	Colon
3	chr5:14580800-14581400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr5:14580800-14581400	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr5:14580800-14581400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr5:14580800-14581400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr5:14580800-14581400	Enhancers	Fetal Intestine Large	intestine
8	chr5:14580800-14581400	Bivalent Enhancer	Fetal Lung	lung
9	chr5:14580800-14581400	Bivalent Enhancer	Fetal Muscle Leg	muscle
10	chr5:14580800-14581400	Bivalent Enhancer	Fetal Thymus	thymus
11	chr5:14580800-14581400	Bivalent Enhancer	HepG2	liver
12	chr5:14580800-14581600	Enhancers	Fetal Brain Male	brain
13	chr5:14580800-14581600	Flanking Active TSS	Hela-S3	cervix
14	chr5:14580800-14581600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
15	chr5:14580800-14583400	Active TSS	Brain Inferior Temporal Lobe	brain
16	chr5:14580800-14583400	Active TSS	Colonic Mucosa	Colon
17	chr5:14581000-14581400	Enhancers	Brain Cingulate Gyrus	brain
18	chr5:14581000-14581400	Enhancers	Fetal Intestine Small	intestine
19	chr5:14581000-14581400	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr5:14581000-14581600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
21	chr5:14581000-14581600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
22	chr5:14581000-14581600	Bivalent Enhancer	Stomach Mucosa	stomach
23	chr5:14581000-14583200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
24	chr5:14581000-14583400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
25	chr5:14581200-14581400	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
26	chr5:14581200-14581400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
27	chr5:14581200-14581400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
28	chr5:14581200-14581400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
29	chr5:14581200-14581400	Enhancers	Primary T helper naive cells from peripheral blood	blood
30	chr5:14581200-14581400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
31	chr5:14581200-14581400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
32	chr5:14581200-14581400	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr5:14581200-14581400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
34	chr5:14581200-14581400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
35	chr5:14581200-14581400	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr5:14581200-14581400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr5:14581200-14581400	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
38	chr5:14581200-14581400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr5:14581200-14581400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr5:14581200-14581400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr5:14581200-14581400	Enhancers	Liver	Liver
42	chr5:14581200-14581400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
43	chr5:14581200-14581400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
44	chr5:14581200-14581400	Flanking Active TSS	Fetal Kidney	kidney
45	chr5:14581200-14581400	Flanking Active TSS	Fetal Stomach	stomach
46	chr5:14581200-14581400	Active TSS	Right Ventricle	heart
47	chr5:14581200-14581400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
48	chr5:14581200-14581400	Bivalent/Poised TSS	Thymus	Thymus
49	chr5:14581200-14581400	Flanking Active TSS	A549	lung
50	chr5:14581200-14581400	Bivalent Enhancer	GM12878-XiMat	blood

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