Variant report

Variant	rs11893547
Chromosome Location	chr2:73451404-73451405
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	POLR2A	chr2:73451280-73452042	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:73402189..73403780-chr2:73448975..73451788,2	K562	blood:
2	chr2:73444073..73447610-chr2:73450068..73454237,4	MCF-7	breast:

Variant related genes	Relation type
SMYD5	TF binding region
ENSG00000135632	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10048666	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10048720	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10048837	1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.92[TSI][hapmap];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10048838	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10175626	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10185970	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10189022	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10193579	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10195007	1.00[ASN][1000 genomes]
rs10195282	1.00[ASN][1000 genomes]
rs10198711	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11884073	0.89[ASN][1000 genomes]
rs11888772	0.82[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11902788	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs13009208	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13385938	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13386236	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13404992	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13409784	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs13415504	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs13423796	0.89[ASN][1000 genomes]
rs13424035	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17008829	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17008862	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17008864	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2043092	1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.92[TSI][hapmap];1.00[ASN][1000 genomes]
rs2288632	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28464603	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28494567	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3768636	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3820701	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.92[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs546576	1.00[JPT][hapmap]
rs57321619	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60913601	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61534579	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6757079	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72903461	0.89[ASN][1000 genomes]
rs7594590	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv2776	chr2:73431854-73482304	Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	26 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11893547	CD207	cis	parietal	SCAN
rs11893547	STAMBP	cis	cerebellum	SCAN

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:73442000-73453800	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr2:73442200-73453400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:73442200-73459600	Weak transcription	Right Atrium	heart
4	chr2:73442400-73451600	Weak transcription	Thymus	Thymus
5	chr2:73442400-73452400	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr2:73442400-73459400	Weak transcription	Fetal Brain Male	brain
7	chr2:73442600-73459600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr2:73442600-73459600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr2:73442600-73459600	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr2:73442800-73456400	Weak transcription	NH-A	brain
11	chr2:73442800-73459400	Weak transcription	Fetal Heart	heart
12	chr2:73442800-73459400	Weak transcription	Stomach Mucosa	stomach
13	chr2:73442800-73459600	Weak transcription	Small Intestine	intestine
14	chr2:73443000-73459600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr2:73444800-73456000	Strong transcription	HepG2	liver
16	chr2:73445000-73457600	Strong transcription	Fetal Intestine Small	intestine
17	chr2:73445200-73456000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr2:73445400-73453200	Strong transcription	Aorta	Aorta
19	chr2:73445400-73453400	Strong transcription	Primary T helper cells PMA-I stimulated	--
20	chr2:73445400-73454000	Strong transcription	Brain Inferior Temporal Lobe	brain
21	chr2:73445400-73455000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr2:73445400-73455800	Strong transcription	Primary T cells from cord blood	blood
23	chr2:73445400-73456200	Strong transcription	Primary T cells fromperipheralblood	blood
24	chr2:73445400-73457200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr2:73445400-73457600	Strong transcription	Fetal Stomach	stomach
26	chr2:73445600-73452200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr2:73445600-73452200	Strong transcription	Right Ventricle	heart
28	chr2:73445600-73453000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr2:73445600-73454600	Strong transcription	Primary B cells from peripheral blood	blood
30	chr2:73445600-73455600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr2:73445600-73456200	Strong transcription	Primary T helper cells fromperipheralblood	blood
32	chr2:73445600-73457200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr2:73445600-73457200	Strong transcription	Dnd41	blood
34	chr2:73445800-73451600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr2:73445800-73452600	Strong transcription	Lung	lung
36	chr2:73445800-73454200	Strong transcription	Ovary	ovary
37	chr2:73445800-73456000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr2:73445800-73457200	Strong transcription	Brain Anterior Caudate	brain
39	chr2:73445800-73457200	Strong transcription	Stomach Smooth Muscle	stomach
40	chr2:73445800-73457600	Strong transcription	Fetal Intestine Large	intestine
41	chr2:73445800-73458200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr2:73446000-73451600	Strong transcription	Primary hematopoietic stem cells	blood
43	chr2:73446000-73452000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr2:73446000-73452000	Strong transcription	Hela-S3	cervix
45	chr2:73446000-73452200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr2:73446000-73452600	Strong transcription	Duodenum Mucosa	Duodenum
47	chr2:73446000-73452800	Strong transcription	Adipose Nuclei	Adipose
48	chr2:73446000-73452800	Strong transcription	Spleen	Spleen
49	chr2:73446000-73453200	Strong transcription	Brain Angular Gyrus	brain
50	chr2:73446000-73454200	Strong transcription	H9 Cell Line	embryonic stem cell

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