Variant report

Variant	rs12146658
Chromosome Location	chr11:73142675-73142676
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:73142035..73144285-chr11:73145065..73148000,2	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs11823289	0.93[AMR][1000 genomes]
rs12287163	0.92[AFR][1000 genomes]
rs34304845	0.93[AMR][1000 genomes]
rs56021202	0.82[AFR][1000 genomes]
rs56045329	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs56128908	0.85[AFR][1000 genomes]
rs56135026	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs56187614	0.93[AMR][1000 genomes]
rs56193465	0.85[AMR][1000 genomes]
rs56317898	0.86[AFR][1000 genomes]
rs57288336	0.93[AMR][1000 genomes]
rs58602796	0.86[AFR][1000 genomes]
rs58619954	0.93[AMR][1000 genomes]
rs59151156	0.84[AFR][1000 genomes]
rs59212255	0.93[AMR][1000 genomes]
rs59570366	0.81[AFR][1000 genomes]
rs60578483	0.93[AMR][1000 genomes]
rs61527032	0.85[AMR][1000 genomes]
rs6592525	0.93[AMR][1000 genomes]
rs7104483	0.99[AFR][1000 genomes]
rs7105000	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs7118920	0.86[AFR][1000 genomes]
rs7120131	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs7126544	0.86[AFR][1000 genomes]
rs7128786	0.85[AMR][1000 genomes]
rs7128980	0.93[AMR][1000 genomes]
rs7924394	0.85[AMR][1000 genomes]
rs7928848	0.84[AFR][1000 genomes]
rs7931840	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs7932197	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs7933274	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs7945984	1.00[AFR][1000 genomes];0.93[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	esv3395161	chr11:73084616-73461577	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	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

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73115200-73149400	Weak transcription	Fetal Kidney	kidney
2	chr11:73120800-73149000	Weak transcription	Fetal Lung	lung
3	chr11:73120800-73149800	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr11:73120800-73150000	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr11:73121000-73150200	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr11:73122400-73163200	Weak transcription	Aorta	Aorta
7	chr11:73122800-73149600	Weak transcription	Gastric	stomach
8	chr11:73123800-73209600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr11:73126600-73149400	Weak transcription	Small Intestine	intestine
10	chr11:73129400-73152400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr11:73129600-73147000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr11:73129600-73149400	Weak transcription	Liver	Liver
13	chr11:73129600-73150000	Weak transcription	Fetal Intestine Small	intestine
14	chr11:73130800-73150000	Weak transcription	Duodenum Mucosa	Duodenum
15	chr11:73131000-73190000	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr11:73131200-73142800	Weak transcription	Brain Germinal Matrix	brain
17	chr11:73131200-73143200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr11:73131200-73149800	Weak transcription	Fetal Brain Female	brain
19	chr11:73131600-73145600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr11:73132000-73143400	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr11:73132000-73145200	Weak transcription	Primary B cells from peripheral blood	blood
22	chr11:73132000-73150200	Weak transcription	HepG2	liver
23	chr11:73132600-73162600	Weak transcription	Primary B cells from cord blood	blood
24	chr11:73133000-73146000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr11:73133200-73145600	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr11:73133200-73147000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr11:73137000-73143000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr11:73137600-73150000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr11:73137600-73150000	Weak transcription	Fetal Stomach	stomach
30	chr11:73137800-73148600	Weak transcription	Brain Cingulate Gyrus	brain
31	chr11:73137800-73156800	Weak transcription	Adipose Nuclei	Adipose
32	chr11:73138000-73149800	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr11:73138000-73152000	Weak transcription	HSMM	muscle
34	chr11:73138000-73176800	Weak transcription	Rectal Smooth Muscle	rectum
35	chr11:73138200-73157400	Weak transcription	Primary monocytes fromperipheralblood	blood
36	chr11:73138400-73150000	Weak transcription	Fetal Muscle Trunk	muscle
37	chr11:73138600-73147400	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr11:73138600-73150000	Weak transcription	Right Ventricle	heart
39	chr11:73139200-73145600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr11:73139200-73147800	Weak transcription	Brain Anterior Caudate	brain
41	chr11:73139200-73177800	Weak transcription	Fetal Thymus	thymus
42	chr11:73139400-73149400	Weak transcription	Fetal Heart	heart
43	chr11:73140200-73149800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr11:73140800-73145600	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr11:73140800-73145600	Weak transcription	Brain Substantia Nigra	brain
46	chr11:73140800-73145800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr11:73140800-73147400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr11:73140800-73150000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr11:73141000-73143000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr11:73141200-73145000	Weak transcription	NHLF	lung

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