Variant report

Variant	rs7155910
Chromosome Location	chr14:71274677-71274678
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	HCFC1	chr14:71274546-71277238	Hela-S3	cervix:	n/a	n/a
2	SIN3AK20	chr14:71274569-71277236	MCF-7	breast:	n/a	n/a
3	CEBPB	chr14:71274641-71275231	H1-hESC	embryonic stem cell:	n/a	n/a
4	EBF1	chr14:71274668-71274938	GM12878	blood:	n/a	chr14:71274780-71274791
5	MAX	chr14:71274553-71277076	MCF-7	breast:	n/a	chr14:71276868-71276877 chr14:71275152-71275162
6	HDAC2	chr14:71274522-71277115	MCF-7	breast:	n/a	chr14:71274540-71274554 chr14:71274699-71274713 chr14:71276765-71276784 chr14:71274698-71274712
7	ZNF263	chr14:71274656-71277729	HEK293-T-REx	kidney:	n/a	n/a
8	SIN3A	chr14:71274633-71277438	H1-hESC	embryonic stem cell:	n/a	n/a
9	MTA3	chr14:71274553-71275326	GM12878	blood:	n/a	n/a
10	CEBPB	chr14:71274605-71274864	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:71273334..71275325-chr14:71487514..71489742,2	MCF-7	breast:
2	chr14:71106760..71110006-chr14:71274602..71279359,4	MCF-7	breast:
3	chr14:70233095..70235215-chr14:71274129..71276265,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000259153	TF binding region
ENSG00000259115	Chromatin interaction
ENSG00000133985	Chromatin interaction
ENSG00000100650	Chromatin interaction
ENSG00000245466	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1034769	0.91[CHB][hapmap]
rs11626917	0.82[ASN][1000 genomes]
rs12589737	0.91[CHB][hapmap];0.83[JPT][hapmap]
rs1476609	0.91[CHB][hapmap];0.83[CHD][hapmap];0.83[JPT][hapmap]
rs2023955	1.00[CHB][hapmap];0.92[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2107665	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2107666	0.91[CHB][hapmap];0.83[JPT][hapmap]
rs2332455	0.91[CHB][hapmap];0.83[JPT][hapmap]
rs2332456	0.81[CHB][hapmap]
rs2332458	0.89[CHB][hapmap];0.83[JPT][hapmap]
rs3814872	0.91[CHB][hapmap];0.83[JPT][hapmap]
rs4528504	0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4899367	0.85[GIH][hapmap];0.93[MKK][hapmap];0.86[TSI][hapmap];1.00[YRI][hapmap]
rs4899368	0.83[CHB][hapmap];0.83[JPT][hapmap]
rs4902852	0.91[CHB][hapmap];0.83[JPT][hapmap]
rs4902860	0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4902863	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[ASN][1000 genomes]
rs7140653	0.91[CHB][hapmap];0.83[JPT][hapmap]
rs7152516	0.81[CHB][hapmap];1.00[JPT][hapmap]
rs7157775	0.93[ASN][1000 genomes]
rs8006424	0.93[MKK][hapmap];0.86[TSI][hapmap];1.00[YRI][hapmap]
rs8007131	0.91[CHB][hapmap];0.90[JPT][hapmap]
rs8011507	0.91[CHB][hapmap];0.83[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1039460	chr14:71176898-71371125	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv1041980	chr14:71196358-71767339	Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv542125	chr14:71196358-71767339	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv1035416	chr14:71212882-71623271	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	nsv542126	chr14:71212882-71623271	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
6	nsv1049741	chr14:71233043-71462509	Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv1037839	chr14:71263886-71625114	Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
8	nsv542127	chr14:71263886-71625114	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
9	nsv1038007	chr14:71269747-71667680	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
10	esv3375447	chr14:71274499-71276497	Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7155910	MAP3K9	cis	cerebellum	SCAN

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:71257800-71274800	Weak transcription	Colonic Mucosa	Colon
2	chr14:71260000-71274800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr14:71268800-71275000	Weak transcription	Gastric	stomach
4	chr14:71269200-71274800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr14:71273000-71280600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr14:71274200-71275000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr14:71274200-71278800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr14:71274200-71279400	Active TSS	HMEC	breast
9	chr14:71274400-71274800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
10	chr14:71274400-71274800	Bivalent Enhancer	Brain Germinal Matrix	brain
11	chr14:71274400-71274800	Enhancers	Fetal Brain Male	brain
12	chr14:71274400-71275000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
13	chr14:71274400-71275000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
14	chr14:71274400-71275000	Flanking Active TSS	NHEK	skin
15	chr14:71274400-71275200	Flanking Active TSS	GM12878-XiMat	blood
16	chr14:71274400-71276800	Active TSS	Breast Myoepithelial Primary Cells	Breast
17	chr14:71274400-71277600	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr14:71274400-71277800	Active TSS	H1 Cell Line	embryonic stem cell
19	chr14:71274400-71277800	Active TSS	HUES6 Cell Line	embryonic stem cell
20	chr14:71274400-71278200	Active TSS	iPS-20b Cell Line	embryonic stem cell
21	chr14:71274600-71274800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
22	chr14:71274600-71274800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr14:71274600-71274800	Flanking Active TSS	H9 Cell Line	embryonic stem cell
24	chr14:71274600-71274800	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr14:71274600-71274800	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr14:71274600-71274800	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
27	chr14:71274600-71274800	Bivalent Enhancer	Primary T cells from cord blood	blood
28	chr14:71274600-71274800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
29	chr14:71274600-71274800	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
30	chr14:71274600-71274800	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr14:71274600-71274800	Flanking Active TSS	Brain Angular Gyrus	brain
32	chr14:71274600-71274800	Active TSS	Brain Inferior Temporal Lobe	brain
33	chr14:71274600-71274800	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
34	chr14:71274600-71274800	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
35	chr14:71274600-71274800	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
36	chr14:71274600-71274800	Bivalent Enhancer	Fetal Kidney	kidney
37	chr14:71274600-71274800	Enhancers	Placenta	Placenta
38	chr14:71274600-71274800	Active TSS	Right Atrium	heart
39	chr14:71274600-71274800	Enhancers	Right Ventricle	heart
40	chr14:71274600-71274800	Bivalent Enhancer	Stomach Mucosa	stomach
41	chr14:71274600-71274800	Bivalent Enhancer	NH-A	brain
42	chr14:71274600-71275000	Enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr14:71274600-71275000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
44	chr14:71274600-71275000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
45	chr14:71274600-71275000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
46	chr14:71274600-71275000	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
47	chr14:71274600-71275000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
48	chr14:71274600-71275000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr14:71274600-71275000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
50	chr14:71274600-71275000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin

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