Variant report

Variant	rs73451865
Chromosome Location	chr11:46673312-46673313
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:46671904..46674251-chr11:46675583..46677958,3	K562	blood:

Extended variants
information (count: 57 )
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	0.94[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]
rs73451868	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73451873	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73451880	1.00[AMR][1000 genomes]
rs73451885	1.00[AMR][1000 genomes]
rs73451887	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73451898	1.00[AMR][1000 genomes]
rs73451902	1.00[AMR][1000 genomes]
rs73454010	0.87[AFR][1000 genomes]
rs73454018	0.87[AFR][1000 genomes]
rs73454026	0.87[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:3 , 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
3	nsv897321	chr11:46515902-46673344	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 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	chr11:46652200-46678400	Weak transcription	Fetal Brain Male	brain
5	chr11:46652200-46695600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr11:46656600-46691200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr11:46659600-46695200	Strong transcription	Rectal Mucosa Donor 29	rectum
8	chr11:46661000-46681000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr11:46662400-46676200	Weak transcription	Stomach Mucosa	stomach
10	chr11:46664000-46680400	Strong transcription	Fetal Intestine Large	intestine
11	chr11:46664000-46690600	Strong transcription	Primary T cells from cord blood	blood
12	chr11:46664200-46680600	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr11:46664200-46680600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr11:46664200-46689600	Strong transcription	Dnd41	blood
15	chr11:46664200-46692600	Strong transcription	Duodenum Mucosa	Duodenum
16	chr11:46664200-46695400	Strong transcription	Primary B cells from peripheral blood	blood
17	chr11:46664400-46685400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr11:46664400-46691000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr11:46664400-46691400	Strong transcription	Fetal Thymus	thymus
20	chr11:46664800-46679800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr11:46665200-46675000	Strong transcription	HUES48 Cell Line	embryonic stem cell
22	chr11:46665400-46675000	Strong transcription	Primary B cells from cord blood	blood
23	chr11:46665600-46680600	Strong transcription	Primary neutrophils fromperipheralblood	blood
24	chr11:46665600-46691000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr11:46665800-46679200	Strong transcription	Placenta	Placenta
26	chr11:46665800-46685000	Strong transcription	Stomach Smooth Muscle	stomach
27	chr11:46665800-46688600	Strong transcription	Fetal Muscle Leg	muscle
28	chr11:46665800-46690600	Strong transcription	Primary T helper cells PMA-I stimulated	--
29	chr11:46665800-46695200	Strong transcription	HUES6 Cell Line	embryonic stem cell
30	chr11:46666000-46681800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
31	chr11:46666000-46691000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr11:46666000-46695400	Strong transcription	Sigmoid Colon	Sigmoid Colon
33	chr11:46666200-46674600	Strong transcription	Primary T killer memory cells from peripheral blood	blood
34	chr11:46666400-46682000	Strong transcription	Rectal Mucosa Donor 31	rectum
35	chr11:46666800-46674400	Strong transcription	Placenta Amnion	Placenta Amnion
36	chr11:46667000-46690800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr11:46667000-46691000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr11:46667000-46691600	Strong transcription	Thymus	Thymus
39	chr11:46667200-46674600	Strong transcription	Primary T helper naive cells from peripheral blood	blood
40	chr11:46667200-46695400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr11:46667200-46695600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
42	chr11:46667200-46717000	Strong transcription	Brain Germinal Matrix	brain
43	chr11:46667400-46686800	Strong transcription	Lung	lung
44	chr11:46667400-46696000	Strong transcription	Fetal Brain Female	brain
45	chr11:46667800-46674200	Weak transcription	NHEK	skin
46	chr11:46668400-46679000	Weak transcription	Psoas Muscle	Psoas
47	chr11:46668600-46673800	Strong transcription	Colonic Mucosa	Colon
48	chr11:46669400-46673400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr11:46669800-46674800	Weak transcription	Pancreas	Pancrea
50	chr11:46670400-46688200	Strong transcription	Duodenum Smooth Muscle	Duodenum

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