Variant report

Variant	rs4814490
Chromosome Location	chr20:16384576-16384577
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11906365	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11906447	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16997573	0.87[AFR][1000 genomes]
rs3746785	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4813220	1.00[CEU][hapmap]
rs4814484	0.92[JPT][hapmap]
rs59212194	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61323052	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6135750	1.00[CEU][hapmap];0.91[MEX][hapmap]
rs6135751	1.00[CEU][hapmap]
rs8117188	1.00[CEU][hapmap]

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	nsv833931	chr20:16308276-16460596	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:16343600-16384600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr20:16345000-16391200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr20:16345400-16391000	Weak transcription	Brain Germinal Matrix	brain
4	chr20:16346600-16393600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr20:16347600-16392000	Weak transcription	Fetal Kidney	kidney
6	chr20:16355400-16385200	Weak transcription	Brain Substantia Nigra	brain
7	chr20:16357800-16385400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr20:16359800-16387800	Weak transcription	Placenta	Placenta
9	chr20:16360600-16385200	Weak transcription	Primary hematopoietic stem cells	blood
10	chr20:16360800-16385000	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr20:16360800-16385200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr20:16364600-16385400	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr20:16366400-16391400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr20:16367200-16387800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr20:16372200-16389400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr20:16372400-16389200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr20:16372600-16388200	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr20:16372600-16404600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr20:16372800-16385400	Weak transcription	Spleen	Spleen
20	chr20:16375400-16392600	Weak transcription	NH-A	brain
21	chr20:16375400-16396400	Weak transcription	Stomach Mucosa	stomach
22	chr20:16377000-16389400	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr20:16378000-16384600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr20:16378000-16385400	Weak transcription	Pancreas	Pancrea
25	chr20:16378000-16388000	Weak transcription	HSMM	muscle
26	chr20:16378000-16388200	Weak transcription	Osteobl	bone
27	chr20:16378000-16391200	Weak transcription	Brain Cingulate Gyrus	brain
28	chr20:16378000-16404400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr20:16378200-16385600	Weak transcription	Brain Angular Gyrus	brain
30	chr20:16378600-16385600	Weak transcription	Colon Smooth Muscle	Colon
31	chr20:16378600-16388400	Weak transcription	Fetal Brain Female	brain
32	chr20:16378600-16391200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr20:16378800-16391200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr20:16378800-16393400	Strong transcription	Rectal Mucosa Donor 29	rectum
35	chr20:16379000-16385400	Weak transcription	Fetal Lung	lung
36	chr20:16379000-16392800	Strong transcription	Rectal Mucosa Donor 31	rectum
37	chr20:16379200-16395800	Weak transcription	NHDF-Ad	bronchial
38	chr20:16379600-16385200	Weak transcription	Right Ventricle	heart
39	chr20:16379800-16387200	Strong transcription	Primary T cells from cord blood	blood
40	chr20:16379800-16388200	Strong transcription	Stomach Smooth Muscle	stomach
41	chr20:16380200-16387400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
42	chr20:16380600-16385400	Weak transcription	Fetal Intestine Small	intestine
43	chr20:16380800-16385400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr20:16380800-16385400	Weak transcription	Gastric	stomach
45	chr20:16381000-16385400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr20:16381200-16388000	Weak transcription	A549	lung
47	chr20:16381400-16385400	Weak transcription	Rectal Smooth Muscle	rectum
48	chr20:16381400-16385600	Weak transcription	Brain Hippocampus Middle	brain
49	chr20:16381400-16389600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr20:16381400-16391400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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