Variant report

Variant	rs11821860
Chromosome Location	chr11:47555003-47555004
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:47554883..47557632-chr11:47576101..47578756,2	K562	blood:
2	chr11:47543706..47547000-chr11:47553093..47555540,3	K562	blood:
3	chr11:47553390..47555536-chr11:47600207..47602219,2	K562	blood:
4	chr11:47553494..47556204-chr11:47558570..47560706,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000149187	Chromatin interaction
ENSG00000213619	Chromatin interaction
ENSG00000123444	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1044269	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11039278	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11819955	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11820650	0.85[ASN][1000 genomes]
rs11821273	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11821917	0.83[ASN][1000 genomes]
rs11822402	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11823490	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11824864	0.83[ASN][1000 genomes]
rs11824971	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11824990	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11828339	0.80[ASN][1000 genomes]
rs17198158	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17790804	0.85[ASN][1000 genomes]
rs2242511	0.82[ASN][1000 genomes]
rs3781628	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs3847503	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4384349	0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4752783	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4752839	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4752843	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4752992	0.83[ASN][1000 genomes]
rs58119589	0.83[ASN][1000 genomes]
rs59631865	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs60882887	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60929305	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61000762	0.84[ASN][1000 genomes]
rs7115371	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs753812	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7944532	0.83[ASN][1000 genomes]
rs9666924	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][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	nsv897325	chr11:47411736-47600438	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv1036011	chr11:47413060-47582279	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases
3	nsv832142	chr11:47517955-47681310	Weak transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47546000-47572400	Weak transcription	Fetal Intestine Large	intestine
2	chr11:47546200-47560400	Weak transcription	Esophagus	oesophagus
3	chr11:47546400-47558000	Weak transcription	Fetal Lung	lung
4	chr11:47546400-47560400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr11:47546400-47560800	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr11:47546400-47561200	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr11:47546400-47564200	Weak transcription	Thymus	Thymus
8	chr11:47546400-47573400	Weak transcription	Colonic Mucosa	Colon
9	chr11:47546400-47573600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:47546600-47561000	Weak transcription	Stomach Mucosa	stomach
11	chr11:47546800-47559000	Strong transcription	Fetal Intestine Small	intestine
12	chr11:47546800-47560200	Weak transcription	Primary hematopoietic stem cells	blood
13	chr11:47547000-47557800	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr11:47547200-47555200	Weak transcription	Primary B cells from cord blood	blood
15	chr11:47547200-47559600	Weak transcription	HUVEC	blood vessel
16	chr11:47547400-47558000	Weak transcription	Small Intestine	intestine
17	chr11:47547400-47560400	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr11:47547400-47560800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr11:47547800-47562000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr11:47548200-47560400	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr11:47549000-47559400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr11:47549200-47556400	Weak transcription	Primary T cells from cord blood	blood
23	chr11:47550000-47556400	Weak transcription	A549	lung
24	chr11:47550400-47559200	Weak transcription	NHEK	skin
25	chr11:47550600-47561000	Weak transcription	Placenta	Placenta
26	chr11:47550800-47558000	Weak transcription	Fetal Muscle Trunk	muscle
27	chr11:47551000-47563200	Enhancers	Fetal Brain Male	brain
28	chr11:47551200-47559000	Weak transcription	Psoas Muscle	Psoas
29	chr11:47551400-47557600	Weak transcription	Fetal Thymus	thymus
30	chr11:47551800-47555400	Enhancers	Brain Anterior Caudate	brain
31	chr11:47552000-47555600	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr11:47552200-47555600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
33	chr11:47552200-47556000	Enhancers	Duodenum Smooth Muscle	Duodenum
34	chr11:47552200-47560400	Weak transcription	HMEC	breast
35	chr11:47552400-47556800	Weak transcription	Primary neutrophils fromperipheralblood	blood
36	chr11:47552600-47555800	Enhancers	Liver	Liver
37	chr11:47552600-47560800	Weak transcription	Pancreas	Pancrea
38	chr11:47553000-47555400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr11:47553000-47556800	Weak transcription	Lung	lung
40	chr11:47553000-47557800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr11:47553000-47557800	Weak transcription	Spleen	Spleen
42	chr11:47553000-47573200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr11:47553200-47555200	Enhancers	Brain Substantia Nigra	brain
44	chr11:47553200-47555400	Enhancers	Rectal Smooth Muscle	rectum
45	chr11:47553200-47555800	Enhancers	Muscle Satellite Cultured Cells	--
46	chr11:47553200-47556400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr11:47553200-47556800	Enhancers	Adipose Nuclei	Adipose
48	chr11:47553600-47555200	Strong transcription	Fetal Muscle Leg	muscle
49	chr11:47553600-47555800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr11:47553600-47555800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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