Variant report

Variant	rs4814495
Chromosome Location	chr20:16404080-16404081
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1012904	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1012905	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1014888	0.83[ASN][1000 genomes]
rs11087166	0.89[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs1884660	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2144942	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2273425	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4332991	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4814491	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6043937	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6080256	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6105596	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6111101	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6111113	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs761901	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	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:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:16372600-16404600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr20:16378000-16404400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr20:16384000-16432600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr20:16385200-16404200	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr20:16385400-16404200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr20:16386200-16404400	Weak transcription	Rectal Smooth Muscle	rectum
7	chr20:16386400-16404200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr20:16387000-16404200	Weak transcription	Gastric	stomach
9	chr20:16387000-16406400	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr20:16387400-16404400	Weak transcription	Esophagus	oesophagus
11	chr20:16387400-16411800	Weak transcription	Colonic Mucosa	Colon
12	chr20:16389600-16404200	Weak transcription	A549	lung
13	chr20:16391600-16406400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr20:16391600-16410800	Weak transcription	Thymus	Thymus
15	chr20:16391800-16404200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr20:16391800-16404400	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr20:16391800-16409800	Weak transcription	Brain Angular Gyrus	brain
18	chr20:16391800-16414600	Weak transcription	Colon Smooth Muscle	Colon
19	chr20:16392000-16404200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr20:16392000-16405600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr20:16392000-16406400	Weak transcription	Brain Anterior Caudate	brain
22	chr20:16392000-16407000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr20:16392200-16404200	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr20:16392200-16412800	Weak transcription	Fetal Kidney	kidney
25	chr20:16392200-16453000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr20:16392400-16404200	Weak transcription	Primary B cells from peripheral blood	blood
27	chr20:16392400-16411600	Weak transcription	Brain Substantia Nigra	brain
28	chr20:16393800-16408200	Weak transcription	Small Intestine	intestine
29	chr20:16395200-16411400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr20:16396000-16411400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr20:16396200-16412800	Weak transcription	NHDF-Ad	bronchial
32	chr20:16396400-16411000	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr20:16396600-16404400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr20:16396600-16406800	Weak transcription	Placenta	Placenta
35	chr20:16397400-16412000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr20:16397800-16404200	Weak transcription	Spleen	Spleen
37	chr20:16398000-16404200	Weak transcription	Right Ventricle	heart
38	chr20:16398200-16417000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr20:16398200-16431000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr20:16398400-16404200	Weak transcription	HepG2	liver
41	chr20:16398400-16404600	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr20:16399200-16404200	Weak transcription	Primary hematopoietic stem cells	blood
43	chr20:16399200-16404200	Weak transcription	Left Ventricle	heart
44	chr20:16399400-16404200	Weak transcription	Pancreas	Pancrea
45	chr20:16399600-16404200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr20:16399600-16404200	Weak transcription	Primary B cells from cord blood	blood
47	chr20:16399600-16404200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr20:16399600-16404200	Weak transcription	Aorta	Aorta
49	chr20:16399600-16404200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr20:16399600-16404200	Weak transcription	Fetal Muscle Trunk	muscle

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