Variant report

Variant	rs569270
Chromosome Location	chr11:100847050-100847051
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:100842079..100843901-chr11:100845694..100847786,2	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs540089	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs557834	0.86[AFR][1000 genomes]
rs581468	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs608149	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs654593	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs671333	0.95[AMR][1000 genomes];0.94[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	nsv1048356	chr11:100713096-101058995	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv541154	chr11:100713096-101058995	Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:100810000-100852200	Weak transcription	Small Intestine	intestine
2	chr11:100810600-100848400	Weak transcription	Rectal Smooth Muscle	rectum
3	chr11:100813000-100848600	Weak transcription	A549	lung
4	chr11:100828800-100849400	Weak transcription	NHLF	lung
5	chr11:100829000-100849400	Weak transcription	HMEC	breast
6	chr11:100829600-100849400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr11:100830000-100847600	Weak transcription	Psoas Muscle	Psoas
8	chr11:100830600-100858200	Weak transcription	Colonic Mucosa	Colon
9	chr11:100832200-100849600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr11:100834000-100847400	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr11:100834400-100847200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr11:100834400-100851600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr11:100834800-100847200	Weak transcription	Stomach Mucosa	stomach
14	chr11:100840400-100849200	Weak transcription	Dnd41	blood
15	chr11:100840800-100847200	Weak transcription	Osteobl	bone
16	chr11:100841400-100850000	Weak transcription	Pancreas	Pancrea
17	chr11:100841600-100852200	Weak transcription	Spleen	Spleen
18	chr11:100841800-100849800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr11:100841800-100852200	Weak transcription	Esophagus	oesophagus
20	chr11:100844000-100860200	Strong transcription	Placenta	Placenta
21	chr11:100844200-100848400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr11:100844400-100848800	Strong transcription	HSMM	muscle
23	chr11:100844400-100850600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr11:100844600-100848200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr11:100844600-100848200	Strong transcription	Fetal Muscle Trunk	muscle
26	chr11:100844600-100848200	Strong transcription	Sigmoid Colon	Sigmoid Colon
27	chr11:100844600-100848400	Strong transcription	Rectal Mucosa Donor 29	rectum
28	chr11:100844600-100848600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
29	chr11:100844600-100848800	Strong transcription	Duodenum Mucosa	Duodenum
30	chr11:100844600-100849000	Strong transcription	Stomach Smooth Muscle	stomach
31	chr11:100844600-100849800	Strong transcription	Rectal Mucosa Donor 31	rectum
32	chr11:100844600-100850000	Strong transcription	Adipose Nuclei	Adipose
33	chr11:100844600-100850400	Strong transcription	Liver	Liver
34	chr11:100844800-100849800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr11:100844800-100863000	Weak transcription	Brain Anterior Caudate	brain
36	chr11:100845000-100848800	Strong transcription	Primary B cells from cord blood	blood
37	chr11:100845200-100848400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr11:100845200-100848800	Strong transcription	Duodenum Smooth Muscle	Duodenum
39	chr11:100845400-100848000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr11:100845400-100848600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr11:100845400-100849000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr11:100845400-100849200	Weak transcription	Lung	lung
43	chr11:100845400-100850000	Weak transcription	NHDF-Ad	bronchial
44	chr11:100845600-100849200	Strong transcription	Fetal Lung	lung
45	chr11:100845800-100848200	Strong transcription	Cortex derived primary cultured neurospheres	brain
46	chr11:100845800-100850800	Weak transcription	K562	blood
47	chr11:100846200-100848600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr11:100846200-100848600	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr11:100846200-100848800	Strong transcription	NH-A	brain
50	chr11:100846200-100857400	Weak transcription	Fetal Brain Male	brain

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