Variant report

Variant	rs73490761
Chromosome Location	chr11:75003757-75003758
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:75003195..75007314-chr11:75009381..75012419,4	K562	blood:
2	chr11:74999592..75002232-chr11:75002266..75004639,2	MCF-7	breast:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1109407	1.00[EUR][1000 genomes]
rs11236363	1.00[EUR][1000 genomes]
rs11236364	1.00[EUR][1000 genomes]
rs12274382	1.00[EUR][1000 genomes]
rs12287059	1.00[EUR][1000 genomes]
rs34348607	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35232368	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35315061	1.00[EUR][1000 genomes]
rs35891965	1.00[EUR][1000 genomes]
rs35969092	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57096650	1.00[EUR][1000 genomes]
rs60146945	1.00[AMR][1000 genomes]
rs61334831	1.00[EUR][1000 genomes]
rs61392501	1.00[EUR][1000 genomes]
rs73488706	1.00[EUR][1000 genomes]
rs73488721	1.00[EUR][1000 genomes]
rs73488794	1.00[AMR][1000 genomes]
rs73488800	1.00[AMR][1000 genomes]
rs73490707	1.00[AMR][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	nsv1049887	chr11:74937977-75040438	Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv1036292	chr11:74937977-75059496	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	65 gene(s)	inside rSNPs	diseases
3	nsv1041640	chr11:74945824-75174688	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	94 gene(s)	inside rSNPs	diseases
4	nsv832211	chr11:74945839-75106125	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	66 gene(s)	inside rSNPs	diseases
5	nsv522447	chr11:74982939-75068767	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA	57 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:74972400-75004400	Weak transcription	Fetal Brain Male	brain
2	chr11:74988200-75008600	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr11:74988200-75012400	Weak transcription	Small Intestine	intestine
4	chr11:74988400-75005400	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr11:74988800-75004200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr11:74990000-75003800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr11:74991400-75004000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr11:74991600-75004200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr11:74991600-75007800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr11:74991800-75004200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr11:74992000-75004000	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr11:74992400-75003800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr11:74992400-75008600	Strong transcription	Primary T cells from cord blood	blood
14	chr11:74992800-75008000	Strong transcription	Fetal Intestine Small	intestine
15	chr11:74993400-75013200	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr11:74994800-75004200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr11:74995600-75004000	Weak transcription	Left Ventricle	heart
18	chr11:74996800-75017800	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr11:74997800-75013600	Weak transcription	Esophagus	oesophagus
20	chr11:74998400-75004000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr11:74998400-75004600	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr11:74998400-75007000	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr11:74998600-75004200	Weak transcription	Fetal Lung	lung
24	chr11:74998600-75004400	Weak transcription	Fetal Heart	heart
25	chr11:74998600-75012200	Weak transcription	Stomach Mucosa	stomach
26	chr11:74998600-75020200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr11:74998600-75021000	Weak transcription	Rectal Smooth Muscle	rectum
28	chr11:74998800-75004600	Weak transcription	Fetal Brain Female	brain
29	chr11:74998800-75006000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr11:74998800-75012400	Weak transcription	Liver	Liver
31	chr11:74998800-75012400	Weak transcription	Colonic Mucosa	Colon
32	chr11:74998800-75041400	Weak transcription	Brain Germinal Matrix	brain
33	chr11:74999000-75011400	Weak transcription	Fetal Thymus	thymus
34	chr11:74999800-75006400	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr11:75000200-75037600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr11:75000400-75004000	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr11:75000400-75033000	Weak transcription	Primary T helper cells fromperipheralblood	blood
38	chr11:75000600-75012200	Weak transcription	Brain Angular Gyrus	brain
39	chr11:75000600-75012200	Weak transcription	Brain Anterior Caudate	brain
40	chr11:75000600-75021400	Weak transcription	HSMMtube	muscle
41	chr11:75000800-75003800	Weak transcription	Colon Smooth Muscle	Colon
42	chr11:75000800-75016600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr11:75000800-75018800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr11:75000800-75023000	Weak transcription	Ovary	ovary
45	chr11:75001000-75006400	Weak transcription	Brain Hippocampus Middle	brain
46	chr11:75001000-75014800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr11:75001200-75005600	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr11:75001200-75012200	Weak transcription	Right Ventricle	heart
49	chr11:75001200-75012200	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr11:75001200-75013200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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