Variant report

Variant	rs2546197
Chromosome Location	chr5:95172281-95172282
allele	A/C
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	POLR2A	chr5:95169767-95172654	GM12891	blood:	n/a	n/a
2	IKZF1	chr5:95172167-95172709	GM12878	blood:	n/a	n/a
3	BATF	chr5:95172247-95172565	GM12878	blood:	n/a	n/a
4	NFIC	chr5:95172095-95172754	GM12878	blood:	n/a	n/a
5	BATF	chr5:95172192-95172615	GM12878	blood:	n/a	n/a
6	ATF2	chr5:95172148-95172612	GM12878	blood:	n/a	n/a
7	MYC	chr5:95172232-95172347	NB4	blood:	n/a	n/a
8	RUNX3	chr5:95172174-95172653	GM12878	blood:	n/a	n/a
9	MEF2A	chr5:95172176-95172687	GM12878	blood:	n/a	chr5:95172408-95172424 chr5:95172667-95172681 chr5:95172409-95172424 chr5:95172410-95172421 chr5:95172408-95172423 chr5:95172404-95172425
10	RUNX3	chr5:95172151-95172707	GM12878	blood:	n/a	n/a
11	NFATC1	chr5:95171989-95172558	GM12878	blood:	n/a	n/a
12	MEF2A	chr5:95172085-95172668	GM12878	blood:	n/a	chr5:95172408-95172424 chr5:95172409-95172424 chr5:95172410-95172421 chr5:95172408-95172423 chr5:95172404-95172425
13	FOS	chr5:95171783-95172540	HUVEC	blood vessel:	n/a	chr5:95171929-95171940 chr5:95172244-95172253
14	ATF2	chr5:95172123-95172700	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:95168597..95170209-chr5:95172089..95173618,2	K562	blood:
2	chr5:94981172..94985318-chr5:95169805..95176246,5	MCF-7	breast:
3	chr5:95157133..95161008-chr5:95170364..95173601,6	MCF-7	breast:
4	chr5:95131346..95133321-chr5:95171352..95173975,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000251000	TF binding region
ENSG00000173221	Chromatin interaction
ENSG00000175449	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11135438	0.85[EUR][1000 genomes]
rs11135439	0.84[YRI][hapmap]
rs11135440	0.83[EUR][1000 genomes]
rs11748451	0.85[EUR][1000 genomes]
rs12523597	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2547999	0.85[EUR][1000 genomes]
rs7726424	1.00[GIH][hapmap];0.90[TSI][hapmap];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7736003	0.81[EUR][1000 genomes]
rs871775	0.93[GIH][hapmap];0.84[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830409	chr5:95006686-95204496	Weak transcription Enhancers Strong transcription Flanking Active TSS 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	27 gene(s)	inside rSNPs	diseases
2	nsv1015180	chr5:95134357-95286446	Strong transcription Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv882389	chr5:95144952-95173887	Strong transcription Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2546197	OXT	trans	brain	seeQTL

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:95170600-95172400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr5:95170600-95172600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr5:95170800-95172400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
4	chr5:95170800-95172400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr5:95171000-95172400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr5:95171000-95172400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr5:95171000-95172400	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr5:95171000-95172400	Enhancers	Stomach Mucosa	stomach
9	chr5:95171000-95172600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr5:95171000-95172600	Enhancers	Fetal Heart	heart
11	chr5:95171000-95175400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr5:95171200-95172400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
13	chr5:95171200-95172400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
14	chr5:95171200-95172400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
15	chr5:95171200-95172600	Flanking Active TSS	Primary hematopoietic stem cells	blood
16	chr5:95171200-95172600	Flanking Active TSS	Dnd41	blood
17	chr5:95171200-95172800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
18	chr5:95171200-95177800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr5:95171400-95172400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr5:95171400-95172600	Flanking Active TSS	GM12878-XiMat	blood
21	chr5:95171400-95172800	Enhancers	Small Intestine	intestine
22	chr5:95171600-95172600	Enhancers	HSMM	muscle
23	chr5:95171600-95172600	Enhancers	HSMMtube	muscle
24	chr5:95171600-95172600	Enhancers	NHDF-Ad	bronchial
25	chr5:95171600-95173400	Weak transcription	Brain Substantia Nigra	brain
26	chr5:95171800-95172400	Weak transcription	Brain Cingulate Gyrus	brain
27	chr5:95171800-95172400	Enhancers	Duodenum Smooth Muscle	Duodenum
28	chr5:95171800-95172400	Enhancers	Right Atrium	heart
29	chr5:95171800-95172400	Enhancers	A549	lung
30	chr5:95171800-95172600	Enhancers	Primary B cells from peripheral blood	blood
31	chr5:95171800-95172600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
32	chr5:95171800-95172600	Enhancers	Brain Anterior Caudate	brain
33	chr5:95171800-95172600	Enhancers	Fetal Thymus	thymus
34	chr5:95171800-95172600	Enhancers	Rectal Mucosa Donor 29	rectum
35	chr5:95171800-95172600	Enhancers	Rectal Mucosa Donor 31	rectum
36	chr5:95171800-95172600	Enhancers	Sigmoid Colon	Sigmoid Colon
37	chr5:95171800-95172600	Enhancers	HepG2	liver
38	chr5:95171800-95172800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
39	chr5:95171800-95172800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
40	chr5:95171800-95172800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr5:95171800-95172800	Enhancers	Brain Hippocampus Middle	brain
42	chr5:95171800-95172800	Enhancers	NHLF	lung
43	chr5:95171800-95173400	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr5:95171800-95173800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr5:95171800-95174000	Weak transcription	Lung	lung
46	chr5:95171800-95174200	Weak transcription	Fetal Intestine Large	intestine
47	chr5:95171800-95175400	Weak transcription	Esophagus	oesophagus
48	chr5:95171800-95175600	Weak transcription	Gastric	stomach
49	chr5:95171800-95176200	Weak transcription	Placenta	Placenta
50	chr5:95171800-95177200	Weak transcription	Colonic Mucosa	Colon

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