Variant report

Variant	rs480944
Chromosome Location	chr11:59527893-59527894
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:59527108..59529447-chr11:59575542..59578069,2	K562	blood:
2	chr11:59525592..59530085-chr11:59541874..59544413,4	MCF-7	breast:
3	chr11:59524561..59526544-chr11:59527654..59529309,2	K562	blood:

Variant related genes	Relation type
ENSG00000166902	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1151063	0.84[AMR][1000 genomes]
rs1151064	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs1287111	0.84[AMR][1000 genomes]
rs2509276	0.80[AMR][1000 genomes]
rs2957223	0.82[AMR][1000 genomes]
rs482355	0.80[AMR][1000 genomes]
rs485008	0.80[AMR][1000 genomes]
rs504016	0.84[AMR][1000 genomes]
rs511957	0.82[AMR][1000 genomes]
rs512194	0.84[AMR][1000 genomes]
rs512695	0.82[AMR][1000 genomes]
rs521330	0.80[AMR][1000 genomes]
rs529270	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs579373	0.82[AMR][1000 genomes]
rs580242	0.80[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2752406	chr11:59490424-59529524	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	n/a
2	esv2755215	chr11:59515524-59529524	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	n/a
3	nsv1046086	chr11:59520424-59561455	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:59523800-59532000	Weak transcription	Esophagus	oesophagus
2	chr11:59523800-59533600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr11:59524000-59539200	Weak transcription	Liver	Liver
4	chr11:59524200-59533800	Weak transcription	Fetal Heart	heart
5	chr11:59524200-59545200	Weak transcription	Brain Hippocampus Middle	brain
6	chr11:59524400-59534000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr11:59524400-59534200	Weak transcription	Aorta	Aorta
8	chr11:59524400-59542200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr11:59524400-59545600	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr11:59524400-59557000	Weak transcription	Rectal Smooth Muscle	rectum
11	chr11:59524600-59528600	Enhancers	Pancreas	Pancrea
12	chr11:59524600-59528800	Weak transcription	Right Ventricle	heart
13	chr11:59524600-59529000	Weak transcription	Psoas Muscle	Psoas
14	chr11:59524600-59533800	Weak transcription	Primary T cells from cord blood	blood
15	chr11:59524600-59534000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr11:59524600-59537200	Weak transcription	NHLF	lung
17	chr11:59524600-59538400	Weak transcription	Brain Anterior Caudate	brain
18	chr11:59524600-59557400	Weak transcription	Colon Smooth Muscle	Colon
19	chr11:59524600-59573800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr11:59524800-59528400	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr11:59524800-59529000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr11:59524800-59532800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr11:59524800-59533400	Weak transcription	Primary B cells from peripheral blood	blood
24	chr11:59524800-59534000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr11:59524800-59534200	Weak transcription	Spleen	Spleen
26	chr11:59524800-59536400	Weak transcription	NHDF-Ad	bronchial
27	chr11:59524800-59539400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr11:59524800-59540600	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr11:59524800-59543000	Weak transcription	A549	lung
30	chr11:59524800-59543800	Weak transcription	NH-A	brain
31	chr11:59524800-59553400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr11:59524800-59555400	Weak transcription	Stomach Smooth Muscle	stomach
33	chr11:59525000-59529400	Weak transcription	Adipose Nuclei	Adipose
34	chr11:59525000-59529600	Weak transcription	Colonic Mucosa	Colon
35	chr11:59525000-59529800	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr11:59525000-59529800	Weak transcription	Placenta	Placenta
37	chr11:59525000-59530400	Genic enhancers	Fetal Intestine Large	intestine
38	chr11:59525000-59531600	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr11:59525000-59533400	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr11:59525000-59539000	Weak transcription	HUVEC	blood vessel
41	chr11:59525200-59528200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr11:59525200-59529000	Weak transcription	Ovary	ovary
43	chr11:59525200-59530000	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr11:59525200-59530200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr11:59525200-59532600	Weak transcription	Small Intestine	intestine
46	chr11:59525200-59533600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr11:59525200-59537400	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr11:59525200-59540600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr11:59525200-59543600	Weak transcription	Hela-S3	cervix
50	chr11:59525400-59528200	Weak transcription	Rectal Mucosa Donor 31	rectum

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