Variant report

Variant	rs1519074
Chromosome Location	chr11:108047982-108047983
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	chr11:108046670..108049307-chr11:108065336..108067903,2	K562	blood:
2	chr11:108026155..108028288-chr11:108047248..108050243,2	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs3092991	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4753835	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4754296	0.89[AMR][1000 genomes]
rs4754300	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4988023	0.80[EUR][1000 genomes]
rs55788757	0.87[AMR][1000 genomes]
rs55985317	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61913672	0.82[AMR][1000 genomes]
rs61913679	0.89[AMR][1000 genomes]
rs73006208	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73006226	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73006241	0.89[AMR][1000 genomes];0.97[EUR][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	nsv533794	chr11:107349817-108093259	Bivalent Enhancer Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv1040522	chr11:107969357-108049672	Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:107993200-108069600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:108002200-108069600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
3	chr11:108002800-108048000	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr11:108009200-108071000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr11:108009400-108062600	Strong transcription	Primary T cells from cord blood	blood
6	chr11:108009400-108068400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr11:108009600-108049000	Strong transcription	Placenta	Placenta
8	chr11:108009600-108068200	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr11:108009800-108048000	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr11:108010600-108071200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr11:108010800-108049200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr11:108017000-108075000	Strong transcription	Dnd41	blood
13	chr11:108022800-108052600	Weak transcription	Spleen	Spleen
14	chr11:108023000-108053000	Weak transcription	Pancreas	Pancrea
15	chr11:108023000-108055400	Weak transcription	Esophagus	oesophagus
16	chr11:108023800-108053200	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr11:108024800-108070400	Strong transcription	HUES6 Cell Line	embryonic stem cell
18	chr11:108026200-108072200	Strong transcription	Fetal Thymus	thymus
19	chr11:108026800-108071000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr11:108027000-108069800	Strong transcription	H1 Cell Line	embryonic stem cell
21	chr11:108028800-108068000	Strong transcription	Primary neutrophils fromperipheralblood	blood
22	chr11:108029200-108067800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr11:108030000-108048800	Strong transcription	Fetal Intestine Large	intestine
24	chr11:108032600-108075000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr11:108032800-108051800	Weak transcription	Gastric	stomach
26	chr11:108033400-108051800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr11:108033400-108053200	Weak transcription	Aorta	Aorta
28	chr11:108035400-108059600	Weak transcription	HSMMtube	muscle
29	chr11:108037200-108052800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr11:108038400-108052200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr11:108039400-108068200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr11:108039800-108049000	Strong transcription	K562	blood
33	chr11:108040200-108057400	Weak transcription	Hela-S3	cervix
34	chr11:108040400-108053200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr11:108040400-108074000	Weak transcription	Fetal Brain Male	brain
36	chr11:108040600-108048600	Weak transcription	HepG2	liver
37	chr11:108040600-108051200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr11:108040600-108051800	Weak transcription	Right Ventricle	heart
39	chr11:108040600-108053000	Weak transcription	Fetal Heart	heart
40	chr11:108040600-108053400	Weak transcription	Colon Smooth Muscle	Colon
41	chr11:108040800-108053000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr11:108040800-108069600	Weak transcription	Psoas Muscle	Psoas
43	chr11:108041200-108054600	Weak transcription	Brain Substantia Nigra	brain
44	chr11:108041400-108050800	Weak transcription	Brain Anterior Caudate	brain
45	chr11:108041400-108053400	Weak transcription	Brain Cingulate Gyrus	brain
46	chr11:108041400-108059000	Weak transcription	NHLF	lung
47	chr11:108041400-108059200	Weak transcription	Brain Angular Gyrus	brain
48	chr11:108041600-108074000	Weak transcription	Small Intestine	intestine
49	chr11:108041800-108053200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr11:108041800-108068000	Strong transcription	Primary T helper cells fromperipheralblood	blood

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