Variant report

Variant	rs12421489
Chromosome Location	chr11:72749144-72749145
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs12419767	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs72477723	1.00[AFR][1000 genomes];0.94[AMR][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	esv2422418	chr11:72646518-72807865	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv555411	chr11:72647296-72800970	Flanking Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72724400-72761000	Weak transcription	HSMM	muscle
2	chr11:72730800-72751000	Weak transcription	HSMMtube	muscle
3	chr11:72734200-72755200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr11:72736600-72750200	Weak transcription	Psoas Muscle	Psoas
5	chr11:72739200-72759200	Weak transcription	Aorta	Aorta
6	chr11:72739400-72753000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr11:72739400-72765800	Weak transcription	Spleen	Spleen
8	chr11:72739600-72757800	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr11:72739600-72759200	Weak transcription	Osteobl	bone
10	chr11:72740000-72753200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr11:72740000-72757400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr11:72740000-72758400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr11:72740000-72758800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr11:72740000-72759200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr11:72740000-72771800	Weak transcription	Fetal Stomach	stomach
16	chr11:72740800-72749400	Weak transcription	Fetal Intestine Large	intestine
17	chr11:72740800-72750200	Weak transcription	Ovary	ovary
18	chr11:72740800-72751000	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr11:72740800-72758400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr11:72741400-72749400	Weak transcription	Primary hematopoietic stem cells	blood
21	chr11:72741400-72749400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr11:72741400-72750200	Weak transcription	Lung	lung
23	chr11:72741400-72765000	Weak transcription	Fetal Heart	heart
24	chr11:72741600-72749400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr11:72741600-72749800	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr11:72742000-72757800	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr11:72743800-72758800	Weak transcription	HUVEC	blood vessel
28	chr11:72744000-72750200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr11:72744200-72759200	Weak transcription	Pancreas	Pancrea
30	chr11:72744600-72758600	Weak transcription	Fetal Intestine Small	intestine
31	chr11:72745600-72751200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr11:72745600-72761000	Weak transcription	Brain Cingulate Gyrus	brain
33	chr11:72746000-72751200	Weak transcription	Brain Hippocampus Middle	brain
34	chr11:72746000-72751400	Strong transcription	GM12878-XiMat	blood
35	chr11:72746200-72759200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr11:72746400-72749600	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr11:72746400-72749800	Weak transcription	Liver	Liver
38	chr11:72746400-72759200	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr11:72746600-72750000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr11:72746600-72751200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr11:72746600-72753400	Weak transcription	Fetal Lung	lung
42	chr11:72746600-72754000	Strong transcription	Primary B cells from peripheral blood	blood
43	chr11:72746600-72758400	Weak transcription	Primary T cells from cord blood	blood
44	chr11:72746600-72758400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr11:72746600-72758600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr11:72746600-72759200	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr11:72746600-72759400	Weak transcription	Left Ventricle	heart
48	chr11:72746600-72824600	Weak transcription	Thymus	Thymus
49	chr11:72746800-72759200	Weak transcription	Fetal Thymus	thymus
50	chr11:72747200-72752400	Strong transcription	Primary B cells from cord blood	blood

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