Variant report

Variant	rs11621195
Chromosome Location	chr14:65035365-65035366
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10891	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11620680	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11621442	0.83[EUR][1000 genomes]
rs11622028	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11622591	1.00[AFR][1000 genomes]
rs11623381	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11624854	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11627525	1.00[AFR][1000 genomes]
rs11627602	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11628524	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11629135	0.83[EUR][1000 genomes]
rs17824827	0.87[ASN][1000 genomes]
rs2123456	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2123457	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2236222	0.81[EUR][1000 genomes]
rs3742609	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs45511097	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55766182	1.00[AFR][1000 genomes]
rs55791907	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56007903	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56403644	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57451210	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs58644746	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs59587911	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7146831	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs723594	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73269771	0.90[EUR][1000 genomes]
rs74056329	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs74056334	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs74056445	0.84[EUR][1000 genomes]
rs8007506	0.87[ASN][1000 genomes]
rs8012229	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049097	chr14:65027753-65202018	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65021600-65047600	Weak transcription	Pancreas	Pancrea
2	chr14:65028200-65039400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr14:65029200-65035800	Weak transcription	Placenta	Placenta
4	chr14:65029400-65035600	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr14:65029400-65039400	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr14:65030600-65039600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr14:65031000-65035800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr14:65031000-65035800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr14:65031000-65039000	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr14:65033200-65036400	Enhancers	Colon Smooth Muscle	Colon
11	chr14:65033200-65037000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr14:65033400-65040000	Weak transcription	Gastric	stomach
13	chr14:65033600-65035800	Weak transcription	Fetal Muscle Trunk	muscle
14	chr14:65033600-65036800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr14:65033600-65039200	Weak transcription	Aorta	Aorta
16	chr14:65033600-65039400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr14:65033800-65035400	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr14:65033800-65035600	Weak transcription	Adipose Nuclei	Adipose
19	chr14:65033800-65035800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr14:65033800-65035800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr14:65033800-65035800	Weak transcription	Brain Germinal Matrix	brain
22	chr14:65033800-65036400	Enhancers	HUVEC	blood vessel
23	chr14:65033800-65036600	Weak transcription	Psoas Muscle	Psoas
24	chr14:65033800-65039400	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr14:65033800-65039400	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr14:65033800-65039400	Weak transcription	Brain Angular Gyrus	brain
27	chr14:65033800-65040000	Weak transcription	Esophagus	oesophagus
28	chr14:65034000-65035400	Weak transcription	Fetal Kidney	kidney
29	chr14:65034000-65035600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr14:65034000-65035600	Weak transcription	Fetal Lung	lung
31	chr14:65034000-65035800	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr14:65034000-65039000	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr14:65034200-65035400	Weak transcription	Brain Cingulate Gyrus	brain
34	chr14:65034200-65035600	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr14:65034200-65035600	Weak transcription	Brain Substantia Nigra	brain
36	chr14:65034400-65039200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr14:65034800-65035600	Enhancers	A549	lung
38	chr14:65034800-65039200	Weak transcription	Fetal Muscle Leg	muscle
39	chr14:65035000-65036000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr14:65035000-65036000	Enhancers	Brain Hippocampus Middle	brain
41	chr14:65035000-65036400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr14:65035000-65036400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr14:65035000-65036800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr14:65035000-65037600	Enhancers	Hela-S3	cervix
45	chr14:65035200-65035800	Enhancers	Stomach Smooth Muscle	stomach
46	chr14:65035200-65036000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr14:65035200-65036200	Enhancers	Rectal Smooth Muscle	rectum
48	chr14:65035200-65036400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr14:65035200-65036400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr14:65035200-65036400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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