Variant report

Variant	rs2291838
Chromosome Location	chr1:220161859-220161860
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RELA	chr1:220161636-220162142	GM12878	blood:	n/a	n/a
2	NFYB	chr1:220161698-220161941	GM12878	blood:	n/a	n/a
3	NRF1	chr1:220161577-220161860	GM12878	blood:	n/a	n/a
4	IRF3	chr1:220161825-220161982	GM12878	blood:	n/a	n/a
5	EBF1	chr1:220161685-220162043	GM12878	blood:	n/a	n/a
6	BATF	chr1:220161821-220162147	GM12878	blood:	n/a	n/a
7	EP300	chr1:220161543-220162139	GM12878	blood:	n/a	n/a
8	MXI1	chr1:220161765-220161983	GM12878	blood:	n/a	n/a
9	TBP	chr1:220161283-220162009	GM12878	blood:	n/a	n/a
10	POLR2A	chr1:220161313-220168073	K562	blood:	n/a	n/a
11	ATF2	chr1:220161520-220162244	GM12878	blood:	n/a	n/a
12	TBL1XR1	chr1:220161686-220162113	GM12878	blood:	n/a	n/a
13	ZNF143	chr1:220161746-220162061	GM12878	blood:	n/a	n/a
14	BCLAF1	chr1:220161550-220162282	GM12878	blood:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:220153591..220159773-chr1:220159981..220165102,9	K562	blood:
2	chr1:220161264..220163445-chr1:220234115..220237098,2	K562	blood:

No data

Variant related genes	Relation type
EPRS	TF binding region
ENSG00000238798	TF binding region
ENSG00000136628	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10495143	0.97[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs10779393	0.97[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs10863523	0.97[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs12046562	0.84[ASN][1000 genomes]
rs12048112	0.84[ASN][1000 genomes]
rs12058150	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2291836	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2789798	0.80[ASN][1000 genomes]
rs3767669	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3767670	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3767671	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3820457	0.81[ASN][1000 genomes]
rs61421597	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61830401	0.81[ASN][1000 genomes]
rs6669906	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6699641	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427930	chr1:220120379-220333434	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	744 gene(s)	inside rSNPs	diseases
2	nsv998124	chr1:220132739-220189211	Strong transcription Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	n/a
3	nsv832636	chr1:220139697-220294352	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	738 gene(s)	inside rSNPs	diseases
4	esv1798515	chr1:220157811-220167371	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220132800-220177000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:220140000-220167400	Weak transcription	Gastric	stomach
3	chr1:220140600-220162400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
4	chr1:220140600-220162400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr1:220140600-220163000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr1:220140800-220162400	Strong transcription	Fetal Intestine Large	intestine
7	chr1:220140800-220162400	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr1:220140800-220163200	Strong transcription	Primary T cells from cord blood	blood
9	chr1:220140800-220164000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr1:220140800-220173400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr1:220140800-220192400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr1:220141000-220163000	Strong transcription	HUES64 Cell Line	embryonic stem cell
13	chr1:220141000-220163200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:220141000-220163400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr1:220141200-220162000	Strong transcription	Adipose Nuclei	Adipose
16	chr1:220141200-220162800	Strong transcription	Duodenum Mucosa	Duodenum
17	chr1:220141200-220163200	Strong transcription	HSMM	muscle
18	chr1:220141200-220192200	Weak transcription	Fetal Kidney	kidney
19	chr1:220141400-220162000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr1:220141400-220162200	Strong transcription	Primary T cells fromperipheralblood	blood
21	chr1:220141400-220162200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr1:220141400-220163400	Strong transcription	Dnd41	blood
23	chr1:220141400-220165400	Strong transcription	Primary T helper cells PMA-I stimulated	--
24	chr1:220141600-220162000	Strong transcription	HUES48 Cell Line	embryonic stem cell
25	chr1:220141600-220162200	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr1:220142200-220164000	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr1:220142600-220169400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr1:220145800-220162000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr1:220146400-220182800	Weak transcription	Spleen	Spleen
30	chr1:220147200-220169400	Weak transcription	Fetal Heart	heart
31	chr1:220147800-220163400	Strong transcription	K562	blood
32	chr1:220148200-220162200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr1:220148400-220162400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr1:220148600-220162000	Strong transcription	Osteobl	bone
35	chr1:220148600-220162200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr1:220149000-220167400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr1:220149200-220163400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr1:220149400-220162200	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr1:220149400-220178200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
40	chr1:220149600-220166800	Weak transcription	Stomach Mucosa	stomach
41	chr1:220151200-220162200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
42	chr1:220151600-220162200	Strong transcription	Skeletal Muscle Female	skeletal muscle
43	chr1:220151800-220162000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
44	chr1:220153600-220169200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr1:220154200-220169200	Weak transcription	Fetal Brain Male	brain
46	chr1:220154400-220169200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr1:220154400-220169200	Weak transcription	Fetal Lung	lung
48	chr1:220154600-220166200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr1:220154600-220167000	Weak transcription	Aorta	Aorta
50	chr1:220154600-220169000	Weak transcription	Small Intestine	intestine

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