Variant report

Variant	rs2812203
Chromosome Location	chr13:50703690-50703691
allele	C/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	RUNX3	chr13:50702687-50703711	GM12878	blood:	n/a	n/a
2	E2F6	chr13:50703389-50705088	H1-hESC	embryonic stem cell:	n/a	chr13:50704371-50704383
3	POLR2A	chr13:50697801-50703833	H1-neurons	neurons:	n/a	n/a
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	EBF1	chr13:50703458-50703821	GM12878	blood:	n/a	chr13:50703698-50703708 chr13:50703697-50703708 chr13:50703697-50703710 chr13:50703699-50703708
7	MTA3	chr13:50702658-50704187	GM12878	blood:	n/a	n/a
8	USF1	chr13:50703630-50704055	H1-hESC	embryonic stem cell:	n/a	n/a
9	MAX	chr13:50703638-50704966	H1-hESC	embryonic stem cell:	n/a	chr13:50704050-50704060
10	MAX	chr13:50703334-50703760	GM12878	blood:	n/a	n/a
11	MAX	chr13:50703654-50704892	H1-hESC	embryonic stem cell:	n/a	chr13:50704050-50704060
12	USF1	chr13:50703688-50704032	H1-hESC	embryonic stem cell:	n/a	n/a
13	EBF1	chr13:50702929-50703919	GM12878	blood:	n/a	chr13:50703698-50703708 chr13:50703697-50703708 chr13:50703697-50703710 chr13:50703699-50703708
14	EBF1	chr13:50703450-50703866	GM12878	blood:	n/a	chr13:50703698-50703708 chr13:50703697-50703708 chr13:50703697-50703710 chr13:50703699-50703708
15	NFIC	chr13:50702752-50703695	GM12878	blood:	n/a	n/a
16	FOXM1	chr13:50702626-50703713	GM12878	blood:	n/a	n/a
17	POLR2A	chr13:50697768-50704046	H1-neurons	neurons:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr13:50702418..50705052-chr13:50749467..50751961,2	K562	blood:
2	chr13:50661950..50663880-chr13:50702187..50703696,2	MCF-7	breast:
3	chr13:50652169..50667024-chr13:50693268..50703943,57	K562	blood:
4	chr13:50702118..50703932-chr13:50761814..50763532,2	K562	blood:
5	chr13:50701973..50704283-chr13:50721601..50723228,2	MCF-7	breast:
6	chr13:50703614..50705801-chr13:50707682..50709905,3	MCF-7	breast:
7	chr13:50654107..50658671-chr13:50702301..50706921,6	MCF-7	breast:
8	chr13:50653006..50665770-chr13:50696335..50703879,43	K562	blood:
9	chr13:50703622..50705304-chr13:50709940..50712751,2	K562	blood:

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

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs12876820	1.00[AFR][1000 genomes]
rs1523178	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2066590	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2066593	0.85[ASN][1000 genomes]
rs2740509	0.93[ASN][1000 genomes]
rs2760911	0.93[ASN][1000 genomes]
rs9316484	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9526636	0.89[EUR][1000 genomes]
rs9535415	0.82[AMR][1000 genomes];0.86[EUR][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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2812203	TRIM13	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50700600-50703800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
2	chr13:50701000-50703800	Weak transcription	HSMM	muscle
3	chr13:50701200-50704200	Weak transcription	A549	lung
4	chr13:50701400-50703800	Weak transcription	Hela-S3	cervix
5	chr13:50701600-50705800	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
6	chr13:50701800-50704000	Weak transcription	Gastric	stomach
7	chr13:50702000-50703800	Bivalent Enhancer	Fetal Lung	lung
8	chr13:50702200-50703800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
9	chr13:50702200-50704000	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
10	chr13:50702400-50703800	Weak transcription	Left Ventricle	heart
11	chr13:50702400-50704000	Bivalent Enhancer	Fetal Intestine Large	intestine
12	chr13:50702400-50704000	Bivalent Enhancer	Fetal Intestine Small	intestine
13	chr13:50702600-50704200	Flanking Bivalent TSS/Enh	GM12878-XiMat	blood
14	chr13:50702600-50704400	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
15	chr13:50702800-50704600	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
16	chr13:50703000-50703800	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr13:50703000-50704200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr13:50703000-50705400	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
19	chr13:50703000-50705400	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
20	chr13:50703200-50703800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
21	chr13:50703200-50704000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr13:50703200-50704000	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
23	chr13:50703200-50705600	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
24	chr13:50703400-50703800	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
25	chr13:50703400-50703800	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr13:50703400-50703800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr13:50703400-50703800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
28	chr13:50703400-50703800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr13:50703400-50703800	Bivalent Enhancer	Brain Germinal Matrix	brain
30	chr13:50703400-50703800	Bivalent Enhancer	Colonic Mucosa	Colon
31	chr13:50703400-50703800	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
32	chr13:50703400-50703800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
33	chr13:50703400-50703800	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
34	chr13:50703400-50704000	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr13:50703400-50704000	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
36	chr13:50703400-50704000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr13:50703400-50704000	Flanking Bivalent TSS/Enh	Primary T helper memory cells from peripheral blood 2	blood
38	chr13:50703400-50704000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr13:50703400-50704000	Bivalent Enhancer	Fetal Stomach	stomach
40	chr13:50703400-50704000	Flanking Active TSS	Osteobl	bone
41	chr13:50703400-50704200	Enhancers	Lung	lung
42	chr13:50703400-50704200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
43	chr13:50703400-50704200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
44	chr13:50703400-50705400	Bivalent/Poised TSS	Brain Anterior Caudate	brain
45	chr13:50703400-50705600	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
46	chr13:50703400-50705600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr13:50703400-50706000	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
48	chr13:50703400-50706000	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
49	chr13:50703600-50703800	Flanking Bivalent TSS/Enh	ES-WA7 Cell Line	embryonic stem cell
50	chr13:50703600-50703800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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