Variant report

Variant	rs2973338
Chromosome Location	chr5:80896523-80896524
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:80895098..80897934-chr5:80899967..80903607,4	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1436498	0.95[AFR][1000 genomes]
rs1436499	1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2917542	0.87[ASN][1000 genomes]
rs2917544	0.91[ASN][1000 genomes]
rs2973344	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34359067	0.87[ASN][1000 genomes]
rs382297	1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs384433	1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs386874	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs402352	1.00[YRI][hapmap]
rs413472	0.97[ASN][1000 genomes]
rs428986	0.81[EUR][1000 genomes]
rs432617	1.00[YRI][hapmap]
rs6898782	0.97[ASN][1000 genomes]
rs724913	1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7702428	0.89[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	nsv882233	chr5:80849084-81049187	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv882234	chr5:80853708-80966666	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv525437	chr5:80876359-80964452	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80883200-80905800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr5:80883800-80909200	Weak transcription	HSMM	muscle
3	chr5:80885200-80905400	Weak transcription	Pancreas	Pancrea
4	chr5:80886800-80905400	Weak transcription	Brain Substantia Nigra	brain
5	chr5:80887000-80905600	Weak transcription	Brain Anterior Caudate	brain
6	chr5:80887000-80922400	Weak transcription	Psoas Muscle	Psoas
7	chr5:80887200-80898000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr5:80887200-80905400	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr5:80887200-80911200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr5:80887400-80904600	Weak transcription	Osteobl	bone
11	chr5:80888600-80905200	Weak transcription	Brain Germinal Matrix	brain
12	chr5:80888600-80905400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr5:80888800-80897600	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr5:80888800-80905600	Weak transcription	Fetal Stomach	stomach
15	chr5:80892000-80905600	Weak transcription	Gastric	stomach
16	chr5:80892800-80904600	Weak transcription	Fetal Brain Male	brain
17	chr5:80893000-80900400	Weak transcription	Rectal Smooth Muscle	rectum
18	chr5:80893400-80898800	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr5:80893400-80926000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr5:80893600-80905600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr5:80893600-80905600	Weak transcription	Aorta	Aorta
22	chr5:80893600-80909600	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr5:80893800-80903000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr5:80894000-80897800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr5:80894000-80901600	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr5:80894200-80899200	Strong transcription	Fetal Thymus	thymus
27	chr5:80894400-80905200	Weak transcription	Fetal Intestine Large	intestine
28	chr5:80894400-80905400	Weak transcription	Fetal Brain Female	brain
29	chr5:80894400-80905800	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr5:80894600-80897600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr5:80894600-80898600	Weak transcription	Stomach Smooth Muscle	stomach
32	chr5:80894600-80905600	Weak transcription	Primary T helper cells PMA-I stimulated	--
33	chr5:80894600-80905600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr5:80894600-80905600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr5:80894600-80905600	Weak transcription	Fetal Muscle Trunk	muscle
36	chr5:80894600-80905600	Weak transcription	Left Ventricle	heart
37	chr5:80894800-80897600	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr5:80894800-80899400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr5:80894800-80900000	Weak transcription	Primary T helper cells fromperipheralblood	blood
40	chr5:80894800-80905400	Weak transcription	Fetal Kidney	kidney
41	chr5:80894800-80905600	Weak transcription	Adipose Nuclei	Adipose
42	chr5:80895000-80898200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr5:80895000-80900200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr5:80895000-80905400	Weak transcription	Fetal Muscle Leg	muscle
45	chr5:80895000-80905600	Weak transcription	Brain Hippocampus Middle	brain
46	chr5:80895200-80905400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr5:80895200-80909600	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr5:80895400-80897000	Weak transcription	Primary B cells from peripheral blood	blood
49	chr5:80895400-80898600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr5:80895400-80904800	Weak transcription	Cortex derived primary cultured neurospheres	brain

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