Variant report

Variant	rs2247213
Chromosome Location	chr1:221055463-221055464
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	CTBP2	chr1:221049806-221056533	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr1:221055147-221055821	H1-neurons	neurons:	n/a	n/a
3	POLR2A	chr1:221054124-221056451	HUVEC	blood vessel:	n/a	n/a
4	MAZ	chr1:221051935-221057120	IMR90	lung:	n/a	chr1:221052899-221052909 chr1:221052464-221052473 chr1:221052603-221052613
5	SUZ12	chr1:221054227-221056121	H1-hESC	embryonic stem cell:	n/a	n/a
6	SP1	chr1:221055435-221056096	H1-hESC	embryonic stem cell:	n/a	n/a
7	MXI1	chr1:221051833-221056348	IMR90	lung:	n/a	chr1:221051897-221051906
8	SUZ12	chr1:221052903-221055995	NT2-D1	testis:	n/a	n/a
9	POLR2A	chr1:221054077-221056927	HL-60	blood:	n/a	n/a
10	RAD21	chr1:221055423-221055970	H1-hESC	embryonic stem cell:	n/a	chr1:221055464-221055473

Variant related genes	Relation type
HLA-AS1	TF binding region

Extended variants
information (count: 10 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs1317189	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2184658	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2738752	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2738755	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2784250	0.87[AFR][1000 genomes]
rs3738182	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3806325	0.85[CHB][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	nsv997685	chr1:220993527-221863416	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv535299	chr1:220993527-221863416	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	esv1798350	chr1:221020278-221069740	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2247213	MOSC2	cis	lymphoblastoid	seeQTL
rs2247213	RP11-295M18.2	cis	lung	GTEx

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:221049600-221055600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr1:221049800-221055800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
3	chr1:221051200-221055600	Active TSS	Right Ventricle	heart
4	chr1:221051400-221056000	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
5	chr1:221051800-221055800	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr1:221052000-221055600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:221052000-221055800	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
8	chr1:221052000-221055800	Active TSS	Psoas Muscle	Psoas
9	chr1:221052000-221058000	Active TSS	Duodenum Smooth Muscle	Duodenum
10	chr1:221052200-221055800	Active TSS	Brain Substantia Nigra	brain
11	chr1:221052400-221056600	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
12	chr1:221052600-221055800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr1:221052600-221056400	Bivalent/Poised TSS	Fetal Intestine Large	intestine
14	chr1:221053000-221055800	Flanking Active TSS	Primary hematopoietic stem cells	blood
15	chr1:221053600-221057400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
16	chr1:221053800-221055600	Bivalent/Poised TSS	Colonic Mucosa	Colon
17	chr1:221054200-221056000	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
18	chr1:221054200-221056400	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr1:221054400-221056000	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
20	chr1:221054600-221055600	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
21	chr1:221054600-221055800	Transcr. at gene 5' and 3'	Colon Smooth Muscle	Colon
22	chr1:221054600-221055800	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
23	chr1:221054800-221056000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr1:221054800-221057400	Weak transcription	Gastric	stomach
25	chr1:221054800-221057600	Weak transcription	HSMMtube	muscle
26	chr1:221054800-221058400	Weak transcription	K562	blood
27	chr1:221054800-221061000	Weak transcription	HSMM	muscle
28	chr1:221055000-221055600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr1:221055000-221055800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
30	chr1:221055000-221055800	Enhancers	Pancreas	Pancrea
31	chr1:221055000-221055800	Enhancers	Hela-S3	cervix
32	chr1:221055000-221056000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
33	chr1:221055000-221056000	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
34	chr1:221055000-221056000	Flanking Bivalent TSS/Enh	Fetal Lung	lung
35	chr1:221055000-221056000	Bivalent Enhancer	Fetal Thymus	thymus
36	chr1:221055000-221056000	Transcr. at gene 5' and 3'	Rectal Smooth Muscle	rectum
37	chr1:221055000-221056200	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr1:221055000-221056400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr1:221055000-221056800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
40	chr1:221055000-221056800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
41	chr1:221055000-221057000	Transcr. at gene 5' and 3'	Primary neutrophils fromperipheralblood	blood
42	chr1:221055000-221058800	Weak transcription	Ovary	ovary
43	chr1:221055200-221055800	Enhancers	Primary B cells from cord blood	blood
44	chr1:221055200-221055800	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr1:221055200-221055800	Genic enhancers	Spleen	Spleen
46	chr1:221055200-221055800	Transcr. at gene 5' and 3'	HUVEC	blood vessel
47	chr1:221055200-221056000	Transcr. at gene 5' and 3'	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr1:221055200-221056000	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
49	chr1:221055200-221056000	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr1:221055200-221056000	Transcr. at gene 5' and 3'	Liver	Liver

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