Variant report

Variant	rs12418344
Chromosome Location	chr11:100846505-100846506
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: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs12416898	1.00[EUR][1000 genomes]
rs12417055	0.81[EUR][1000 genomes]
rs12417295	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12417366	1.00[EUR][1000 genomes]
rs12417367	1.00[EUR][1000 genomes]
rs12417981	1.00[EUR][1000 genomes]
rs12418330	1.00[EUR][1000 genomes]
rs12418450	1.00[EUR][1000 genomes]
rs12418561	1.00[EUR][1000 genomes]
rs12418769	1.00[EUR][1000 genomes]
rs12419150	1.00[EUR][1000 genomes]
rs12419214	1.00[EUR][1000 genomes]
rs12420084	1.00[EUR][1000 genomes]
rs12420453	1.00[EUR][1000 genomes]
rs12420466	1.00[EUR][1000 genomes]
rs12420698	1.00[EUR][1000 genomes]
rs12420922	1.00[EUR][1000 genomes]
rs12421386	1.00[EUR][1000 genomes]
rs12421655	0.81[EUR][1000 genomes]
rs12422140	1.00[EUR][1000 genomes]
rs1943499	0.81[EUR][1000 genomes]
rs2186784	1.00[EUR][1000 genomes]
rs2277274	1.00[EUR][1000 genomes]
rs2277275	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2407822	0.81[EUR][1000 genomes]
rs28492796	1.00[EUR][1000 genomes]
rs3843607	1.00[EUR][1000 genomes]
rs3886266	1.00[EUR][1000 genomes]
rs4587692	0.81[EUR][1000 genomes]
rs60423120	1.00[EUR][1000 genomes]
rs60612076	1.00[EUR][1000 genomes]
rs61995873	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	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:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:100800200-100846600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr11:100808000-100846600	Weak transcription	Ovary	ovary
3	chr11:100810000-100852200	Weak transcription	Small Intestine	intestine
4	chr11:100810600-100848400	Weak transcription	Rectal Smooth Muscle	rectum
5	chr11:100813000-100848600	Weak transcription	A549	lung
6	chr11:100813200-100846600	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr11:100820400-100847000	Weak transcription	Fetal Kidney	kidney
8	chr11:100827400-100846600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr11:100828800-100849400	Weak transcription	NHLF	lung
10	chr11:100829000-100849400	Weak transcription	HMEC	breast
11	chr11:100829200-100846800	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr11:100829600-100849400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr11:100830000-100847600	Weak transcription	Psoas Muscle	Psoas
14	chr11:100830600-100858200	Weak transcription	Colonic Mucosa	Colon
15	chr11:100832200-100849600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr11:100834000-100847400	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr11:100834400-100847000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr11:100834400-100847200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr11:100834400-100851600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr11:100834800-100847200	Weak transcription	Stomach Mucosa	stomach
21	chr11:100835600-100846600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr11:100835800-100846600	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr11:100836600-100846600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr11:100836600-100846600	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr11:100838800-100846600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr11:100840000-100846600	Weak transcription	HSMMtube	muscle
27	chr11:100840400-100849200	Weak transcription	Dnd41	blood
28	chr11:100840800-100847200	Weak transcription	Osteobl	bone
29	chr11:100841000-100846600	Weak transcription	Gastric	stomach
30	chr11:100841400-100850000	Weak transcription	Pancreas	Pancrea
31	chr11:100841600-100847000	Weak transcription	Fetal Heart	heart
32	chr11:100841600-100852200	Weak transcription	Spleen	Spleen
33	chr11:100841800-100846600	Weak transcription	Fetal Muscle Leg	muscle
34	chr11:100841800-100846600	Weak transcription	Left Ventricle	heart
35	chr11:100841800-100846600	Weak transcription	Right Ventricle	heart
36	chr11:100841800-100846800	Weak transcription	Fetal Intestine Small	intestine
37	chr11:100841800-100847000	Weak transcription	Right Atrium	heart
38	chr11:100841800-100849800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr11:100841800-100852200	Weak transcription	Esophagus	oesophagus
40	chr11:100843400-100846800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr11:100844000-100860200	Strong transcription	Placenta	Placenta
42	chr11:100844200-100848400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr11:100844400-100848800	Strong transcription	HSMM	muscle
44	chr11:100844400-100850600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr11:100844600-100847000	Weak transcription	Primary T cells from cord blood	blood
46	chr11:100844600-100848200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr11:100844600-100848200	Strong transcription	Fetal Muscle Trunk	muscle
48	chr11:100844600-100848200	Strong transcription	Sigmoid Colon	Sigmoid Colon
49	chr11:100844600-100848400	Strong transcription	Rectal Mucosa Donor 29	rectum
50	chr11:100844600-100848600	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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