Variant report

Variant	rs654593
Chromosome Location	chr11:100846936-100846937
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: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs540089	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs569270	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs581468	0.96[CEU][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs608149	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs671333	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.95[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	chr11:100820400-100847000	Weak transcription	Fetal Kidney	kidney
5	chr11:100828800-100849400	Weak transcription	NHLF	lung
6	chr11:100829000-100849400	Weak transcription	HMEC	breast
7	chr11:100829600-100849400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr11:100830000-100847600	Weak transcription	Psoas Muscle	Psoas
9	chr11:100830600-100858200	Weak transcription	Colonic Mucosa	Colon
10	chr11:100832200-100849600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr11:100834000-100847400	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr11:100834400-100847000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr11:100834400-100847200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr11:100834400-100851600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr11:100834800-100847200	Weak transcription	Stomach Mucosa	stomach
16	chr11:100840400-100849200	Weak transcription	Dnd41	blood
17	chr11:100840800-100847200	Weak transcription	Osteobl	bone
18	chr11:100841400-100850000	Weak transcription	Pancreas	Pancrea
19	chr11:100841600-100847000	Weak transcription	Fetal Heart	heart
20	chr11:100841600-100852200	Weak transcription	Spleen	Spleen
21	chr11:100841800-100847000	Weak transcription	Right Atrium	heart
22	chr11:100841800-100849800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr11:100841800-100852200	Weak transcription	Esophagus	oesophagus
24	chr11:100844000-100860200	Strong transcription	Placenta	Placenta
25	chr11:100844200-100848400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr11:100844400-100848800	Strong transcription	HSMM	muscle
27	chr11:100844400-100850600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr11:100844600-100847000	Weak transcription	Primary T cells from cord blood	blood
29	chr11:100844600-100848200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr11:100844600-100848200	Strong transcription	Fetal Muscle Trunk	muscle
31	chr11:100844600-100848200	Strong transcription	Sigmoid Colon	Sigmoid Colon
32	chr11:100844600-100848400	Strong transcription	Rectal Mucosa Donor 29	rectum
33	chr11:100844600-100848600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr11:100844600-100848800	Strong transcription	Duodenum Mucosa	Duodenum
35	chr11:100844600-100849000	Strong transcription	Stomach Smooth Muscle	stomach
36	chr11:100844600-100849800	Strong transcription	Rectal Mucosa Donor 31	rectum
37	chr11:100844600-100850000	Strong transcription	Adipose Nuclei	Adipose
38	chr11:100844600-100850400	Strong transcription	Liver	Liver
39	chr11:100844800-100849800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr11:100844800-100863000	Weak transcription	Brain Anterior Caudate	brain
41	chr11:100845000-100848800	Strong transcription	Primary B cells from cord blood	blood
42	chr11:100845200-100848400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr11:100845200-100848800	Strong transcription	Duodenum Smooth Muscle	Duodenum
44	chr11:100845400-100847000	Strong transcription	Primary B cells from peripheral blood	blood
45	chr11:100845400-100848000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr11:100845400-100848600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr11:100845400-100849000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr11:100845400-100849200	Weak transcription	Lung	lung
49	chr11:100845400-100850000	Weak transcription	NHDF-Ad	bronchial
50	chr11:100845600-100849200	Strong transcription	Fetal Lung	lung

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