Variant report

Variant	rs4982182
Chromosome Location	chr14:34935048-34935049
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	chr14:34934223-34935184	GM12878	blood:	n/a	chr14:34935103-34935118 chr14:34934831-34934845 chr14:34934640-34934655
2	MAFK	chr14:34934100-34935091	HepG2	liver:	n/a	chr14:34934831-34934845 chr14:34934640-34934655
3	JUN	chr14:34934128-34935472	K562	blood:	n/a	chr14:34934378-34934391 chr14:34935328-34935337
4	IRF1	chr14:34934204-34935048	K562	blood:	n/a	chr14:34934808-34934822 chr14:34934808-34934821 chr14:34934806-34934820 chr14:34934808-34934821 chr14:34934807-34934821 chr14:34934807-34934818 chr14:34934808-34934819 chr14:34934803-34934820 chr14:34934809-34934819 chr14:34934808-34934821 chr14:34934805-34934819 chr14:34934809-34934823
5	MAFF	chr14:34934229-34935130	K562	blood:	n/a	chr14:34934639-34934657
6	SPI1	chr14:34934405-34935089	HL-60	blood:	n/a	chr14:34934910-34934919

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:34934706..34936748-chr14:34939832..34941960,2	MCF-7	breast:

Variant related genes	Relation type
EGLN3	TF binding region
SPTSSA	TF binding region

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10137714	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12434081	0.93[EUR][1000 genomes]
rs28635949	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4982180	0.93[EUR][1000 genomes]
rs4982183	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57186368	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61472699	0.87[EUR][1000 genomes]
rs7152281	0.92[EUR][1000 genomes]
rs7156841	0.93[EUR][1000 genomes]
rs74046057	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040980	chr14:34345018-35255592	Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
2	nsv1051104	chr14:34592378-35007083	Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv949738	chr14:34616331-34990688	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv564192	chr14:34725233-34996507	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv564193	chr14:34728127-35000188	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	nsv528989	chr14:34744426-34998705	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	nsv1054949	chr14:34834260-34992049	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
8	nsv542025	chr14:34834260-34992049	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
9	nsv1050218	chr14:34851521-34969433	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
10	nsv1048369	chr14:34886956-34974774	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
11	nsv901600	chr14:34895977-35010041	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:34932200-34938000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr14:34932200-34938200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr14:34932400-34936000	Weak transcription	Spleen	Spleen
4	chr14:34932400-34937000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr14:34932400-34937000	Weak transcription	Liver	Liver
6	chr14:34932400-34938200	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr14:34932400-34938200	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr14:34932400-34942200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr14:34932600-34938200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr14:34932600-34938200	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr14:34932600-34944600	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr14:34932600-34945000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr14:34934200-34935400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
14	chr14:34934200-34935600	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr14:34934400-34935200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr14:34934400-34935400	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr14:34934600-34935600	Enhancers	Primary neutrophils fromperipheralblood	blood
18	chr14:34935000-34935200	Enhancers	Primary hematopoietic stem cells	blood
19	chr14:34935000-34935200	Enhancers	Duodenum Mucosa	Duodenum
20	chr14:34935000-34935200	Enhancers	Rectal Mucosa Donor 29	rectum
21	chr14:34935000-34935200	Enhancers	HUVEC	blood vessel
22	chr14:34935000-34935400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr14:34935000-34935400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr14:34935000-34935600	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr14:34935000-34935600	Bivalent Enhancer	HepG2	liver
26	chr14:34935000-34936000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr14:34935000-34936200	Weak transcription	Fetal Intestine Large	intestine
28	chr14:34935000-34936600	Weak transcription	Fetal Intestine Small	intestine
29	chr14:34935000-34937000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr14:34935000-34937000	Weak transcription	A549	lung
31	chr14:34935000-34937400	Enhancers	K562	blood
32	chr14:34935000-34937400	Weak transcription	NHLF	lung

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