Variant report

Variant	rs73451873
Chromosome Location	chr11:46680714-46680715
allele	C/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	POLR2A	chr11:46680498-46680754	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:46678596..46681633-chr11:46687108..46691156,3	K562	blood:

Variant related genes	Relation type
ATG13	TF binding region
ENSG00000175224	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs11038924	1.00[AMR][1000 genomes]
rs12099188	1.00[AMR][1000 genomes]
rs3136464	1.00[AMR][1000 genomes]
rs3136477	1.00[AMR][1000 genomes]
rs3136492	1.00[AMR][1000 genomes]
rs36017347	1.00[AMR][1000 genomes]
rs57328824	1.00[AMR][1000 genomes]
rs57479473	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57923752	1.00[AMR][1000 genomes]
rs58634563	1.00[AMR][1000 genomes]
rs59488332	1.00[AMR][1000 genomes]
rs59664414	1.00[AMR][1000 genomes]
rs60026983	1.00[AMR][1000 genomes]
rs60147143	1.00[AMR][1000 genomes]
rs73449906	1.00[AMR][1000 genomes]
rs73449908	1.00[AMR][1000 genomes]
rs73449917	1.00[AMR][1000 genomes]
rs73449920	1.00[AMR][1000 genomes]
rs73449937	1.00[AMR][1000 genomes]
rs73449939	1.00[AMR][1000 genomes]
rs73449943	1.00[AMR][1000 genomes]
rs73449949	1.00[AMR][1000 genomes]
rs73449951	1.00[AMR][1000 genomes]
rs73449956	1.00[AMR][1000 genomes]
rs73449974	1.00[AMR][1000 genomes]
rs73449985	1.00[AMR][1000 genomes]
rs73449986	1.00[AMR][1000 genomes]
rs73450002	1.00[AMR][1000 genomes]
rs73451811	1.00[AMR][1000 genomes]
rs73451819	1.00[AMR][1000 genomes]
rs73451822	1.00[AMR][1000 genomes]
rs73451825	1.00[AMR][1000 genomes]
rs73451848	1.00[AMR][1000 genomes]
rs73451858	1.00[AMR][1000 genomes]
rs73451860	1.00[AMR][1000 genomes]
rs73451863	1.00[AMR][1000 genomes]
rs73451865	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73451868	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73451880	1.00[AMR][1000 genomes]
rs73451885	1.00[AMR][1000 genomes]
rs73451887	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73451898	1.00[AMR][1000 genomes]
rs73451902	1.00[AMR][1000 genomes]
rs73454010	0.93[AFR][1000 genomes]
rs73454018	0.93[AFR][1000 genomes]
rs73454026	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73454031	1.00[AMR][1000 genomes]
rs73454037	1.00[AMR][1000 genomes]
rs73454041	1.00[AMR][1000 genomes]
rs73454046	1.00[AMR][1000 genomes]
rs73454052	1.00[AMR][1000 genomes]
rs73454062	1.00[AMR][1000 genomes]
rs73467964	1.00[AMR][1000 genomes]
rs73467966	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044225	chr11:46472580-46771102	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv541030	chr11:46472580-46771102	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46641800-46680800	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr11:46642000-46685000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr11:46643600-46690800	Strong transcription	Primary T helper cells fromperipheralblood	blood
4	chr11:46652200-46695600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr11:46656600-46691200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr11:46659600-46695200	Strong transcription	Rectal Mucosa Donor 29	rectum
7	chr11:46661000-46681000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr11:46664000-46690600	Strong transcription	Primary T cells from cord blood	blood
9	chr11:46664200-46689600	Strong transcription	Dnd41	blood
10	chr11:46664200-46692600	Strong transcription	Duodenum Mucosa	Duodenum
11	chr11:46664200-46695400	Strong transcription	Primary B cells from peripheral blood	blood
12	chr11:46664400-46685400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr11:46664400-46691000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr11:46664400-46691400	Strong transcription	Fetal Thymus	thymus
15	chr11:46665600-46691000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr11:46665800-46685000	Strong transcription	Stomach Smooth Muscle	stomach
17	chr11:46665800-46688600	Strong transcription	Fetal Muscle Leg	muscle
18	chr11:46665800-46690600	Strong transcription	Primary T helper cells PMA-I stimulated	--
19	chr11:46665800-46695200	Strong transcription	HUES6 Cell Line	embryonic stem cell
20	chr11:46666000-46681800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
21	chr11:46666000-46691000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr11:46666000-46695400	Strong transcription	Sigmoid Colon	Sigmoid Colon
23	chr11:46666400-46682000	Strong transcription	Rectal Mucosa Donor 31	rectum
24	chr11:46667000-46690800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr11:46667000-46691000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr11:46667000-46691600	Strong transcription	Thymus	Thymus
27	chr11:46667200-46695400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr11:46667200-46695600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
29	chr11:46667200-46717000	Strong transcription	Brain Germinal Matrix	brain
30	chr11:46667400-46686800	Strong transcription	Lung	lung
31	chr11:46667400-46696000	Strong transcription	Fetal Brain Female	brain
32	chr11:46670400-46688200	Strong transcription	Duodenum Smooth Muscle	Duodenum
33	chr11:46670600-46681800	Strong transcription	H1 Cell Line	embryonic stem cell
34	chr11:46670600-46682000	Strong transcription	Skeletal Muscle Female	skeletal muscle
35	chr11:46670600-46691000	Strong transcription	Primary T cells fromperipheralblood	blood
36	chr11:46670600-46695600	Strong transcription	HUES64 Cell Line	embryonic stem cell
37	chr11:46670800-46682000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
38	chr11:46670800-46682000	Strong transcription	Fetal Kidney	kidney
39	chr11:46670800-46682600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr11:46670800-46685000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr11:46670800-46688200	Strong transcription	Fetal Muscle Trunk	muscle
42	chr11:46671200-46680800	Strong transcription	Liver	Liver
43	chr11:46671200-46682200	Strong transcription	Skeletal Muscle Male	skeletal muscle
44	chr11:46671400-46696000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr11:46671400-46696000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr11:46671600-46687800	Strong transcription	Cortex derived primary cultured neurospheres	brain
47	chr11:46671600-46688600	Strong transcription	Fetal Stomach	stomach
48	chr11:46672000-46684800	Weak transcription	Aorta	Aorta
49	chr11:46672200-46682600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr11:46672200-46685000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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