Variant report

Variant	rs13400421
Chromosome Location	chr2:112914329-112914330
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	POLR2A	chr2:112914204-112914387	HepG2	liver:	n/a	n/a
2	EGR1	chr2:112914074-112914417	K562	blood:	n/a	chr2:112914231-112914245 chr2:112914213-112914227 chr2:112914214-112914228 chr2:112914215-112914225 chr2:112914215-112914225 chr2:112914214-112914225 chr2:112914214-112914225
3	JUND	chr2:112914207-112914514	K562	blood:	n/a	chr2:112914403-112914413 chr2:112914403-112914412 chr2:112914404-112914413 chr2:112914403-112914413 chr2:112914400-112914411 chr2:112914402-112914414 chr2:112914402-112914413 chr2:112914405-112914412
4	MAZ	chr2:112914128-112914567	HepG2	liver:	n/a	n/a
5	EGR1	chr2:112913958-112914493	MCF-7	breast:	n/a	chr2:112914231-112914245 chr2:112914213-112914227 chr2:112914214-112914228 chr2:112914215-112914225 chr2:112914215-112914225 chr2:112914214-112914225 chr2:112914214-112914225
6	FOS	chr2:112914266-112914494	MCF10A-Er-Src	breast:	n/a	chr2:112914403-112914413 chr2:112914403-112914412 chr2:112914404-112914413 chr2:112914403-112914413 chr2:112914400-112914411 chr2:112914402-112914414 chr2:112914405-112914412
7	RFX5	chr2:112914304-112914487	HepG2	liver:	n/a	n/a
8	TEAD4	chr2:112914186-112914619	HepG2	liver:	n/a	n/a
9	TBP	chr2:112914228-112914445	HepG2	liver:	n/a	n/a
10	FOS	chr2:112914296-112914505	MCF10A-Er-Src	breast:	n/a	chr2:112914403-112914413 chr2:112914403-112914412 chr2:112914404-112914413 chr2:112914403-112914413 chr2:112914400-112914411 chr2:112914402-112914414 chr2:112914405-112914412
11	JUND	chr2:112914239-112914562	HepG2	liver:	n/a	chr2:112914403-112914413 chr2:112914403-112914412 chr2:112914404-112914413 chr2:112914403-112914413 chr2:112914400-112914411 chr2:112914402-112914414 chr2:112914402-112914413 chr2:112914405-112914412
12	UBTF	chr2:112914247-112914530	K562	blood:	n/a	n/a
13	RCOR1	chr2:112914217-112914417	K562	blood:	n/a	n/a
14	TBP	chr2:112914216-112914483	H1-hESC	embryonic stem cell:	n/a	n/a
15	MAX	chr2:112914153-112914329	K562	blood:	n/a	n/a
16	FOSL2	chr2:112914290-112914577	HepG2	liver:	n/a	chr2:112914403-112914413 chr2:112914403-112914412 chr2:112914404-112914413 chr2:112914403-112914413 chr2:112914400-112914411 chr2:112914402-112914414 chr2:112914405-112914412
17	CHD2	chr2:112914177-112914337	HepG2	liver:	n/a	n/a
18	FOS	chr2:112914294-112914479	MCF10A-Er-Src	breast:	n/a	chr2:112914403-112914413 chr2:112914403-112914412 chr2:112914404-112914413 chr2:112914403-112914413 chr2:112914400-112914411 chr2:112914402-112914414 chr2:112914405-112914412
19	BHLHE40	chr2:112914311-112914346	K562	blood:	n/a	n/a
20	JUND	chr2:112914247-112914550	H1-hESC	embryonic stem cell:	n/a	chr2:112914403-112914413 chr2:112914403-112914412 chr2:112914404-112914413 chr2:112914403-112914413 chr2:112914400-112914411 chr2:112914402-112914414 chr2:112914402-112914413 chr2:112914405-112914412
21	FOSL2	chr2:112914180-112914625	SK-N-SH	brain:	n/a	chr2:112914403-112914413 chr2:112914403-112914412 chr2:112914404-112914413 chr2:112914403-112914413 chr2:112914400-112914411 chr2:112914402-112914414 chr2:112914405-112914412
22	UBTF	chr2:112914160-112914488	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:112912607..112915274-chr2:112919768..112922184,2	K562	blood:

Variant related genes	Relation type
FBLN7	TF binding region

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11677075	0.85[ASN][1000 genomes]
rs12185740	0.87[ASN][1000 genomes]
rs2872109	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4318395	0.96[ASN][1000 genomes]
rs62157841	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7349410	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9917306	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874863	chr2:112591224-113157344	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised 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 miRNA target site	57 gene(s)	inside rSNPs	diseases
2	nsv874864	chr2:112617280-113104142	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv874865	chr2:112623098-113049274	Enhancers Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
4	esv3422414	chr2:112883450-113200285	Strong transcription Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	nsv874866	chr2:112906599-112991098	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:112896400-112934600	Weak transcription	Aorta	Aorta
2	chr2:112898200-112915000	Weak transcription	Pancreas	Pancrea
3	chr2:112900600-112931400	Weak transcription	Fetal Lung	lung
4	chr2:112907200-112920400	Weak transcription	Right Atrium	heart
5	chr2:112907600-112914400	Enhancers	HSMMtube	muscle
6	chr2:112911800-112914800	Enhancers	Fetal Thymus	thymus
7	chr2:112912000-112915200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr2:112912200-112914400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr2:112912200-112914600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr2:112912200-112914600	Enhancers	Fetal Muscle Leg	muscle
11	chr2:112912400-112915000	Enhancers	Primary B cells from peripheral blood	blood
12	chr2:112912600-112914400	Enhancers	Primary hematopoietic stem cells	blood
13	chr2:112912600-112927200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr2:112912800-112914400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
15	chr2:112912800-112914400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
16	chr2:112912800-112914400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
17	chr2:112912800-112914600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr2:112912800-112914600	Enhancers	Spleen	Spleen
19	chr2:112913000-112914400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
20	chr2:112913000-112914400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr2:112913000-112914600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
22	chr2:112913000-112914600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
23	chr2:112913000-112914600	Enhancers	Muscle Satellite Cultured Cells	--
24	chr2:112913000-112914600	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr2:112913000-112914600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr2:112913000-112914600	Enhancers	Adipose Nuclei	Adipose
27	chr2:112913000-112915200	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr2:112913200-112914400	Enhancers	Brain Substantia Nigra	brain
29	chr2:112913200-112914600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr2:112913200-112914600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr2:112913200-112914600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr2:112913200-112914600	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr2:112913200-112914600	Enhancers	GM12878-XiMat	blood
34	chr2:112913200-112915200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr2:112913400-112914600	Enhancers	Fetal Muscle Trunk	muscle
36	chr2:112913400-112922400	Weak transcription	Fetal Stomach	stomach
37	chr2:112913600-112914400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr2:112913600-112914600	Enhancers	H1 Cell Line	embryonic stem cell
39	chr2:112913600-112914600	Enhancers	Brain Cingulate Gyrus	brain
40	chr2:112913800-112914400	Enhancers	Primary T cells from cord blood	blood
41	chr2:112913800-112914400	Enhancers	K562	blood
42	chr2:112913800-112914600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr2:112913800-112914600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr2:112913800-112914600	Enhancers	Thymus	Thymus
45	chr2:112913800-112918200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr2:112913800-112923800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr2:112914000-112914400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr2:112914000-112914400	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr2:112914000-112914400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr2:112914000-112914400	Flanking Active TSS	Osteobl	bone

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