Variant report

Variant	rs12419767
Chromosome Location	chr11:72598110-72598111
allele	A/C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:72596402..72598157-chr11:72611052..72613904,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs12287469	1.00[EUR][1000 genomes]
rs12418161	1.00[AFR][1000 genomes]
rs12421489	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs519201	1.00[EUR][1000 genomes]
rs55816648	1.00[EUR][1000 genomes]
rs56251316	1.00[EUR][1000 genomes]
rs57712040	1.00[EUR][1000 genomes]
rs58756839	1.00[EUR][1000 genomes]
rs59700555	1.00[EUR][1000 genomes]
rs60057195	1.00[EUR][1000 genomes]
rs61083756	1.00[EUR][1000 genomes]
rs615703	1.00[EUR][1000 genomes]
rs61661445	1.00[EUR][1000 genomes]
rs72477723	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs73543236	1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3394774	chr11:72320884-72694077	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72540200-72616600	Strong transcription	Primary B cells from peripheral blood	blood
2	chr11:72543200-72614800	Weak transcription	Psoas Muscle	Psoas
3	chr11:72543400-72603000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr11:72550000-72600400	Weak transcription	Pancreas	Pancrea
5	chr11:72567200-72612200	Weak transcription	Small Intestine	intestine
6	chr11:72575000-72599200	Weak transcription	Hela-S3	cervix
7	chr11:72576800-72602400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr11:72577200-72651600	Weak transcription	Gastric	stomach
9	chr11:72577400-72599600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr11:72581200-72600600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr11:72581200-72602800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr11:72581200-72609000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr11:72581400-72600400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr11:72581800-72619600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr11:72582600-72598400	Weak transcription	Fetal Kidney	kidney
16	chr11:72582600-72622000	Weak transcription	Fetal Heart	heart
17	chr11:72582800-72605800	Weak transcription	Colon Smooth Muscle	Colon
18	chr11:72586200-72601000	Weak transcription	Fetal Brain Male	brain
19	chr11:72587200-72602200	Weak transcription	Esophagus	oesophagus
20	chr11:72591400-72601400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr11:72592800-72601200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr11:72593200-72601600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr11:72593200-72615000	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr11:72593200-72616200	Strong transcription	Primary B cells from cord blood	blood
25	chr11:72593400-72601400	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr11:72593600-72601200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr11:72594000-72601400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr11:72594000-72601400	Strong transcription	Dnd41	blood
29	chr11:72594000-72602800	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr11:72594200-72619400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr11:72594400-72602200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr11:72594600-72600800	Strong transcription	Fetal Intestine Large	intestine
33	chr11:72594600-72601200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr11:72594800-72598200	Weak transcription	NH-A	brain
35	chr11:72594800-72613800	Weak transcription	Colonic Mucosa	Colon
36	chr11:72595000-72600400	Weak transcription	K562	blood
37	chr11:72595400-72602200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
38	chr11:72595600-72598200	Strong transcription	Lung	lung
39	chr11:72595600-72599000	Strong transcription	Thymus	Thymus
40	chr11:72595600-72601000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr11:72595600-72601200	Strong transcription	Fetal Muscle Trunk	muscle
42	chr11:72595600-72601400	Strong transcription	Primary T helper cells fromperipheralblood	blood
43	chr11:72595800-72599600	Strong transcription	Duodenum Mucosa	Duodenum
44	chr11:72595800-72599800	Strong transcription	Rectal Mucosa Donor 31	rectum
45	chr11:72595800-72600800	Strong transcription	Placenta	Placenta
46	chr11:72595800-72601200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr11:72595800-72601400	Strong transcription	Primary T cells fromperipheralblood	blood
48	chr11:72595800-72601400	Strong transcription	Liver	Liver
49	chr11:72595800-72601600	Strong transcription	Fetal Thymus	thymus
50	chr11:72596000-72599400	Strong transcription	Rectal Mucosa Donor 29	rectum

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