Variant report

Variant	rs11821823
Chromosome Location	chr11:73594005-73594006
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	chr11:73593743-73594053	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:73587101..73589496-chr11:73591176..73595056,3	MCF-7	breast:
2	chr11:73592356..73594853-chr11:73596827..73598504,2	MCF-7	breast:

Variant related genes	Relation type
PAAF1	TF binding region
ENSG00000175575	Chromatin interaction
ENSG00000181924	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs11822264	1.00[EUR][1000 genomes]
rs11822794	1.00[EUR][1000 genomes]
rs11823400	1.00[EUR][1000 genomes]
rs11824937	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11825819	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11826017	1.00[EUR][1000 genomes]
rs11827951	1.00[EUR][1000 genomes]
rs11828393	1.00[EUR][1000 genomes]
rs11829005	1.00[EUR][1000 genomes]
rs11829012	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17132408	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17132421	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17132422	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17132438	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17132488	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17132555	1.00[EUR][1000 genomes]
rs45476292	1.00[EUR][1000 genomes]
rs45570334	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55840703	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55893487	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55939206	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56117405	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56168571	0.87[AMR][1000 genomes]
rs56340309	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56378817	1.00[EUR][1000 genomes]
rs56723437	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56767203	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57579114	1.00[EUR][1000 genomes]
rs58792356	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59621450	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60093210	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60520592	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60924318	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61085412	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61581672	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61616797	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61701946	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7110607	1.00[EUR][1000 genomes]
rs73543094	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530624	chr11:73114283-73646329	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv492091	chr11:73285970-73844424	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
3	nsv530641	chr11:73358393-73638725	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	nsv1038105	chr11:73552023-73673836	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv1035977	chr11:73581224-73617653	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73588600-73594800	Weak transcription	Ovary	ovary
2	chr11:73588600-73599400	Weak transcription	Left Ventricle	heart
3	chr11:73588600-73610200	Weak transcription	Gastric	stomach
4	chr11:73588600-73610200	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr11:73588600-73611200	Weak transcription	Aorta	Aorta
6	chr11:73588800-73594400	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr11:73588800-73594400	Weak transcription	Fetal Brain Female	brain
8	chr11:73588800-73594600	Weak transcription	Placenta	Placenta
9	chr11:73588800-73594800	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr11:73588800-73594800	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr11:73588800-73595000	Weak transcription	Thymus	Thymus
12	chr11:73588800-73595200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr11:73588800-73597000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr11:73588800-73597800	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr11:73588800-73598000	Weak transcription	Primary B cells from peripheral blood	blood
16	chr11:73588800-73598200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr11:73588800-73598400	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr11:73588800-73598400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr11:73588800-73598400	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr11:73588800-73599400	Weak transcription	Fetal Heart	heart
21	chr11:73588800-73599400	Weak transcription	Psoas Muscle	Psoas
22	chr11:73588800-73599400	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr11:73588800-73599400	Weak transcription	HSMMtube	muscle
24	chr11:73588800-73599800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr11:73588800-73599800	Weak transcription	Colon Smooth Muscle	Colon
26	chr11:73588800-73599800	Weak transcription	NHLF	lung
27	chr11:73588800-73600000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr11:73588800-73600000	Weak transcription	HMEC	breast
29	chr11:73588800-73600000	Weak transcription	NHDF-Ad	bronchial
30	chr11:73588800-73600200	Weak transcription	Brain Angular Gyrus	brain
31	chr11:73588800-73600200	Weak transcription	NH-A	brain
32	chr11:73588800-73600600	Weak transcription	Primary neutrophils fromperipheralblood	blood
33	chr11:73588800-73600800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr11:73588800-73604200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr11:73588800-73604800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr11:73588800-73606200	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr11:73588800-73607000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr11:73588800-73610200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr11:73588800-73610600	Weak transcription	Spleen	Spleen
40	chr11:73588800-73610800	Weak transcription	Lung	lung
41	chr11:73588800-73610800	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr11:73588800-73611200	Weak transcription	Right Ventricle	heart
43	chr11:73588800-73622000	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr11:73588800-73623000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr11:73588800-73625200	Weak transcription	Small Intestine	intestine
46	chr11:73588800-73630000	Weak transcription	Colonic Mucosa	Colon
47	chr11:73588800-73630200	Weak transcription	HUVEC	blood vessel
48	chr11:73589000-73594200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr11:73589000-73594400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr11:73589000-73594600	Weak transcription	Primary T cells fromperipheralblood	blood

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