Variant report

Variant	rs2812204
Chromosome Location	chr13:50704593-50704594
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	E2F6	chr13:50703389-50705088	H1-hESC	embryonic stem cell:	n/a	chr13:50704371-50704383
2	RAD21	chr13:50704349-50704764	H1-hESC	embryonic stem cell:	n/a	chr13:50704391-50704404 chr13:50704432-50704442
3	MAX	chr13:50704443-50705105	SK-N-SH	brain:	n/a	chr13:50705002-50705011
4	SUZ12	chr13:50703396-50705109	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTBP2	chr13:50703428-50705400	H1-hESC	embryonic stem cell:	n/a	n/a
6	E2F4	chr13:50704492-50704629	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr13:50704421-50705134	MCF10A-Er-Src	breast:	n/a	n/a
8	MAX	chr13:50703638-50704966	H1-hESC	embryonic stem cell:	n/a	chr13:50704050-50704060
9	MAX	chr13:50704129-50705120	ECC-1	luminal epithelium:	n/a	chr13:50705002-50705011
10	SIN3A	chr13:50703934-50705416	H1-hESC	embryonic stem cell:	n/a	chr13:50704965-50704978 chr13:50704525-50704536 chr13:50704785-50704798 chr13:50704980-50704991
11	E2F6	chr13:50704244-50704733	A549	lung:	n/a	chr13:50704371-50704383
12	MAX	chr13:50703654-50704892	H1-hESC	embryonic stem cell:	n/a	chr13:50704050-50704060
13	E2F6	chr13:50704094-50704875	A549	lung:	n/a	chr13:50704371-50704383
14	ZNF143	chr13:50704398-50704835	H1-hESC	embryonic stem cell:	n/a	chr13:50704547-50704557
15	MAX	chr13:50704233-50705049	A549	lung:	n/a	chr13:50705002-50705011
16	MAX	chr13:50704062-50705085	ECC-1	luminal epithelium:	n/a	chr13:50705002-50705011
17	POLR2A	chr13:50704423-50705058	MCF10A-Er-Src	breast:	n/a	n/a
18	POLR2A	chr13:50704411-50707365	H1-neurons	neurons:	n/a	n/a
19	POLR2A	chr13:50704593-50704602	MCF-7	breast:	n/a	n/a
20	MAZ	chr13:50704428-50704724	HepG2	liver:	n/a	n/a
21	MAX	chr13:50704221-50705027	SK-N-SH	brain:	n/a	chr13:50705002-50705011
22	E2F6	chr13:50703702-50704972	H1-hESC	embryonic stem cell:	n/a	chr13:50704371-50704383
23	POLR2A	chr13:50704342-50707314	H1-neurons	neurons:	n/a	n/a
24	MAX	chr13:50704073-50705165	A549	lung:	n/a	chr13:50705002-50705011

No.	Distal block	Cell Line	Cell type
1	chr13:50702418..50705052-chr13:50749467..50751961,2	K562	blood:
2	chr13:50703614..50705801-chr13:50707682..50709905,3	MCF-7	breast:
3	chr13:50654107..50658671-chr13:50702301..50706921,6	MCF-7	breast:
4	chr13:50703622..50705304-chr13:50709940..50712751,2	K562	blood:

Variant related genes	Relation type
DLEU2	TF binding region
ENSG00000231607	Chromatin interaction
ENSG00000176124	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1326120	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2066549	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2066558	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2066572	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2066575	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2066585	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2066587	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2066591	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2066594	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2242482	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2687951	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2740508	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2740544	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2740545	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2760914	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2803839	0.88[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2812216	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2812217	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2812222	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4942901	0.88[AMR][1000 genomes]
rs9568363	0.85[AMR][1000 genomes]
rs9568364	0.85[AMR][1000 genomes]
rs9596215	0.83[AMR][1000 genomes]
rs9596219	0.88[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs9596220	0.88[AMR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035151	chr13:50513535-51167850	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1254 gene(s)	inside rSNPs	diseases
2	esv2753964	chr13:50545399-51421199	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
3	esv2753492	chr13:50550081-51461720	Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
4	esv2752608	chr13:50550099-51054499	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1249 gene(s)	inside rSNPs	diseases
5	nsv832608	chr13:50678628-50888413	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
6	nsv1041501	chr13:50683189-50795195	Flanking Active TSS Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2812204	DLEU2///DLEU2L	trans	lymphoblastoid	RTeQTL
rs2812204	DLEU2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50701600-50705800	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
2	chr13:50702800-50704600	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
3	chr13:50703000-50705400	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
4	chr13:50703000-50705400	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
5	chr13:50703200-50705600	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
6	chr13:50703400-50705400	Bivalent/Poised TSS	Brain Anterior Caudate	brain
7	chr13:50703400-50705600	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
8	chr13:50703400-50705600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr13:50703400-50706000	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
10	chr13:50703400-50706000	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
11	chr13:50703600-50704600	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
12	chr13:50703600-50705000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
13	chr13:50703600-50705000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr13:50703600-50705200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr13:50703600-50705200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr13:50703600-50705200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr13:50703600-50705200	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
18	chr13:50703600-50705200	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
19	chr13:50703600-50705200	Active TSS	NHDF-Ad	bronchial
20	chr13:50703600-50705400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
21	chr13:50703600-50705400	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
22	chr13:50703600-50705400	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
23	chr13:50703600-50705400	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
24	chr13:50703600-50705600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
25	chr13:50703600-50705600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
26	chr13:50703600-50705600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr13:50703600-50705600	Flanking Active TSS	Primary B cells from cord blood	blood
28	chr13:50703600-50705600	Flanking Bivalent TSS/Enh	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr13:50703600-50705600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr13:50703600-50705600	Flanking Bivalent TSS/Enh	Thymus	Thymus
31	chr13:50703600-50705800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
32	chr13:50703800-50704600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
33	chr13:50703800-50704600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr13:50703800-50704800	Flanking Bivalent TSS/Enh	NH-A	brain
35	chr13:50703800-50705000	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr13:50703800-50705000	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
37	chr13:50703800-50705000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
38	chr13:50703800-50705000	Bivalent/Poised TSS	Esophagus	oesophagus
39	chr13:50703800-50705200	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
40	chr13:50703800-50705200	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
41	chr13:50703800-50705200	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
42	chr13:50703800-50705200	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
43	chr13:50703800-50705200	Active TSS	Left Ventricle	heart
44	chr13:50703800-50705200	Active TSS	Hela-S3	cervix
45	chr13:50703800-50705400	Active TSS	HSMM	muscle
46	chr13:50703800-50705600	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
47	chr13:50703800-50705600	Flanking Bivalent TSS/Enh	NHEK	skin
48	chr13:50703800-50705800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr13:50703800-50705800	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
50	chr13:50704000-50704600	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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