Variant report

Variant	rs17679259
Chromosome Location	chr14:103895302-103895303
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	IRF1	chr14:103894489-103895704	K562	blood:	n/a	chr14:103895250-103895264 chr14:103895254-103895268 chr14:103895252-103895265 chr14:103895256-103895270 chr14:103895254-103895264 chr14:103895253-103895265 chr14:103895253-103895265 chr14:103895254-103895265 chr14:103895255-103895266 chr14:103895246-103895266 chr14:103895251-103895265
2	FOS	chr14:103895166-103895356	MCF10A-Er-Src	breast:	n/a	chr14:103895251-103895263
3	STAT3	chr14:103895107-103895326	MCF10A-Er-Src	breast:	n/a	chr14:103895254-103895265
4	STAT3	chr14:103895096-103895458	MCF10A-Er-Src	breast:	n/a	chr14:103895254-103895265
5	IRF1	chr14:103894514-103895451	K562	blood:	n/a	chr14:103895250-103895264 chr14:103895254-103895268 chr14:103895252-103895265 chr14:103895256-103895270 chr14:103895254-103895264 chr14:103895253-103895265 chr14:103895253-103895265 chr14:103895254-103895265 chr14:103895255-103895266 chr14:103895246-103895266 chr14:103895251-103895265
6	IRF1	chr14:103895186-103895362	K562	blood:	n/a	chr14:103895250-103895264 chr14:103895254-103895268 chr14:103895252-103895265 chr14:103895256-103895270 chr14:103895254-103895264 chr14:103895253-103895265 chr14:103895253-103895265 chr14:103895254-103895265 chr14:103895255-103895266 chr14:103895246-103895266 chr14:103895251-103895265

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:103893677..103895539-chr14:103987804..103990047,2	K562	blood:

Variant related genes	Relation type
MARK3	TF binding region
ENSG00000166165	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs17617994	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17679127	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2296485	1.00[JPT][hapmap]
rs3759582	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8014182	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049747	chr14:103126148-103955984	Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	113 gene(s)	inside rSNPs	diseases
2	nsv534254	chr14:103470073-104023906	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases
3	nsv9168	chr14:103531729-103913306	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
4	esv3332028	chr14:103581471-104328811	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	162 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:103862000-103919400	Weak transcription	Colonic Mucosa	Colon
2	chr14:103874600-103900800	Weak transcription	Rectal Smooth Muscle	rectum
3	chr14:103879000-103914200	Weak transcription	Esophagus	oesophagus
4	chr14:103879000-103941400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr14:103880400-103904600	Weak transcription	Fetal Kidney	kidney
6	chr14:103881000-103900600	Weak transcription	Placenta	Placenta
7	chr14:103883400-103900000	Weak transcription	Fetal Thymus	thymus
8	chr14:103883800-103896800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr14:103884000-103895400	Weak transcription	Stomach Mucosa	stomach
10	chr14:103884200-103897200	Weak transcription	Fetal Intestine Small	intestine
11	chr14:103888200-103895600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr14:103888200-103900400	Weak transcription	HepG2	liver
13	chr14:103889400-103917800	Weak transcription	Gastric	stomach
14	chr14:103889800-103895600	Weak transcription	Right Ventricle	heart
15	chr14:103890000-103896800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr14:103890000-103900200	Weak transcription	Stomach Smooth Muscle	stomach
17	chr14:103890000-103900400	Weak transcription	Aorta	Aorta
18	chr14:103890000-103922400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr14:103890200-103900200	Weak transcription	NHLF	lung
20	chr14:103890200-103900400	Weak transcription	Thymus	Thymus
21	chr14:103890200-103900600	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr14:103890200-103900600	Weak transcription	HSMMtube	muscle
23	chr14:103890200-103905600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr14:103890200-103914200	Weak transcription	Lung	lung
25	chr14:103890800-103897800	Weak transcription	Fetal Stomach	stomach
26	chr14:103891000-103904000	Weak transcription	Fetal Muscle Trunk	muscle
27	chr14:103891200-103900000	Weak transcription	Primary B cells from cord blood	blood
28	chr14:103891200-103900400	Weak transcription	Fetal Intestine Large	intestine
29	chr14:103891800-103895400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr14:103892000-103895800	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr14:103892000-103896200	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr14:103892000-103896200	Enhancers	Primary T helper cells PMA-I stimulated	--
33	chr14:103892200-103895400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr14:103892200-103895800	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr14:103892200-103896000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
36	chr14:103892800-103895400	Enhancers	NH-A	brain
37	chr14:103892800-103895600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr14:103892800-103896000	Enhancers	K562	blood
39	chr14:103893000-103895600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr14:103893000-103895800	Enhancers	Brain Inferior Temporal Lobe	brain
41	chr14:103893000-103904600	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr14:103893200-103905600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr14:103893400-103895800	Enhancers	Primary T helper cells fromperipheralblood	blood
44	chr14:103893400-103896000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
45	chr14:103893400-103896000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
46	chr14:103893600-103895400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr14:103893600-103895800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr14:103893600-103895800	Enhancers	NHDF-Ad	bronchial
49	chr14:103893600-103895800	Enhancers	Osteobl	bone
50	chr14:103893600-103896000	Enhancers	Primary monocytes fromperipheralblood	blood

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