Variant report

Variant	rs11621682
Chromosome Location	chr14:68294577-68294578
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

rs_ID	r²[population]
rs11626809	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12878157	1.00[AFR][1000 genomes]
rs34612763	1.00[AFR][1000 genomes]
rs72725106	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72725112	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][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	nsv1042536	chr14:68136913-68343198	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv542122	chr14:68136913-68343198	Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv1054697	chr14:68202004-68345982	Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68287200-68303600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr14:68287400-68296400	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr14:68287400-68297200	Weak transcription	Fetal Muscle Trunk	muscle
4	chr14:68287400-68304800	Weak transcription	Lung	lung
5	chr14:68287400-68312800	Weak transcription	Aorta	Aorta
6	chr14:68287400-68312800	Weak transcription	Esophagus	oesophagus
7	chr14:68287400-68315200	Weak transcription	Stomach Smooth Muscle	stomach
8	chr14:68287600-68295000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr14:68287600-68295400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr14:68287600-68296000	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr14:68287600-68298000	Weak transcription	Brain Anterior Caudate	brain
12	chr14:68287600-68301400	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr14:68287600-68302800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr14:68287600-68303600	Weak transcription	Colon Smooth Muscle	Colon
15	chr14:68287600-68303800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr14:68287600-68304800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr14:68287600-68306000	Weak transcription	Rectal Smooth Muscle	rectum
18	chr14:68287600-68317800	Weak transcription	Spleen	Spleen
19	chr14:68287800-68295200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr14:68287800-68295400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr14:68287800-68296200	Weak transcription	Brain Substantia Nigra	brain
22	chr14:68287800-68300600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr14:68287800-68304800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr14:68287800-68305000	Weak transcription	Fetal Kidney	kidney
25	chr14:68287800-68306400	Weak transcription	Fetal Lung	lung
26	chr14:68287800-68310600	Weak transcription	Brain Hippocampus Middle	brain
27	chr14:68287800-68318200	Weak transcription	Duodenum Mucosa	Duodenum
28	chr14:68288000-68295000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr14:68288000-68295400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr14:68288000-68296000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr14:68288000-68297200	Weak transcription	Primary T cells from cord blood	blood
32	chr14:68288000-68298800	Weak transcription	Adipose Nuclei	Adipose
33	chr14:68288000-68300200	Weak transcription	NHEK	skin
34	chr14:68288000-68306400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr14:68288000-68306400	Weak transcription	HepG2	liver
36	chr14:68288000-68306800	Weak transcription	A549	lung
37	chr14:68288200-68295800	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr14:68288200-68298200	Weak transcription	HMEC	breast
39	chr14:68288200-68302400	Weak transcription	GM12878-XiMat	blood
40	chr14:68288200-68304000	Weak transcription	K562	blood
41	chr14:68288200-68306200	Weak transcription	NHDF-Ad	bronchial
42	chr14:68288400-68298200	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr14:68288400-68303800	Weak transcription	Liver	Liver
44	chr14:68289600-68304800	Weak transcription	Fetal Intestine Large	intestine
45	chr14:68290600-68295000	Strong transcription	HUES64 Cell Line	embryonic stem cell
46	chr14:68290800-68294600	Strong transcription	Fetal Muscle Leg	muscle
47	chr14:68290800-68294800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr14:68290800-68294800	Strong transcription	Fetal Thymus	thymus
49	chr14:68291000-68295600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr14:68291200-68294600	Strong transcription	Dnd41	blood

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