Variant report

Variant	rs2920140
Chromosome Location	chr11:4084191-4084192
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	chr11:4083954..4086302-chr11:4087607..4091172,3	K562	blood:
2	chr11:4082609..4084818-chr11:4091785..4094735,2	K562	blood:

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10742229	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11030814	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11602757	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1442725	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1465952	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2289570	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2898950	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2920137	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2920141	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2920142	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2923947	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2923951	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2923952	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2923954	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2959060	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2959061	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2959064	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2959067	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs2959069	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2959071	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2959072	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2959073	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35695744	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3794051	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3794052	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4910595	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4910874	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4910881	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4910883	0.87[AFR][1000 genomes]
rs7104462	0.89[AFR][1000 genomes]
rs7109811	0.88[AMR][1000 genomes]
rs7924858	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7926908	0.81[EUR][1000 genomes]
rs7927493	0.88[EUR][1000 genomes]
rs7930739	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7938946	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7940635	0.84[EUR][1000 genomes]
rs7945918	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs894455	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs894457	1.00[ASN][1000 genomes]
rs9735835	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][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	nsv896896	chr11:4010409-4185595	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv1042719	chr11:4017541-4101609	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	esv2758253	chr11:4055945-4510188	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
4	esv2759797	chr11:4055945-4510188	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
5	nsv428248	chr11:4055945-4510188	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:4066200-4104200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr11:4066400-4107800	Weak transcription	Small Intestine	intestine
3	chr11:4066600-4085800	Weak transcription	Pancreas	Pancrea
4	chr11:4067000-4087400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr11:4067800-4093200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr11:4070800-4108600	Weak transcription	HSMM	muscle
7	chr11:4073000-4093200	Weak transcription	Fetal Intestine Small	intestine
8	chr11:4076000-4087000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr11:4076200-4103000	Weak transcription	Fetal Intestine Large	intestine
10	chr11:4076600-4085200	Strong transcription	Dnd41	blood
11	chr11:4078000-4093200	Weak transcription	Brain Cingulate Gyrus	brain
12	chr11:4078800-4084400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr11:4079000-4093000	Weak transcription	Brain Germinal Matrix	brain
14	chr11:4079000-4112600	Weak transcription	Fetal Brain Female	brain
15	chr11:4079200-4085200	Strong transcription	Primary T cells fromperipheralblood	blood
16	chr11:4079400-4085600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr11:4079400-4085800	Weak transcription	Fetal Heart	heart
18	chr11:4079600-4087200	Weak transcription	NH-A	brain
19	chr11:4079800-4084600	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr11:4079800-4085800	Weak transcription	Rectal Smooth Muscle	rectum
21	chr11:4079800-4093200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr11:4080000-4084400	Strong transcription	Primary T helper cells fromperipheralblood	blood
23	chr11:4080000-4086200	Strong transcription	Primary neutrophils fromperipheralblood	blood
24	chr11:4080200-4088000	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr11:4080400-4085400	Strong transcription	Primary B cells from cord blood	blood
26	chr11:4080400-4087800	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr11:4080600-4084200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
28	chr11:4080800-4084200	Strong transcription	Primary hematopoietic stem cells	blood
29	chr11:4081000-4085800	Weak transcription	Right Ventricle	heart
30	chr11:4081000-4089800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr11:4081000-4090000	Weak transcription	Brain Hippocampus Middle	brain
32	chr11:4081000-4090000	Weak transcription	Esophagus	oesophagus
33	chr11:4081000-4101800	Weak transcription	Lung	lung
34	chr11:4081000-4104600	Weak transcription	Colonic Mucosa	Colon
35	chr11:4081200-4093000	Weak transcription	Fetal Kidney	kidney
36	chr11:4081200-4095400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr11:4081400-4095600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr11:4081600-4085600	Weak transcription	Gastric	stomach
39	chr11:4081600-4086000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr11:4081600-4086400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr11:4081600-4092800	Weak transcription	Fetal Stomach	stomach
42	chr11:4081800-4084800	Weak transcription	NHLF	lung
43	chr11:4081800-4085400	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr11:4081800-4085800	Weak transcription	Left Ventricle	heart
45	chr11:4081800-4095200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr11:4081800-4095600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr11:4082000-4085800	Weak transcription	Aorta	Aorta
48	chr11:4082000-4085800	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr11:4082000-4087000	Weak transcription	Brain Angular Gyrus	brain
50	chr11:4082000-4093400	Weak transcription	Brain Inferior Temporal Lobe	brain

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