Variant report

Variant	rs28591094
Chromosome Location	chr4:99556965-99556966
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:99547655..99549957-chr4:99555367..99557808,2	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10022548	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28574900	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs28722480	0.80[AMR][1000 genomes]
rs28732372	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6532756	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9991354	0.91[AMR][1000 genomes];0.91[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	nsv594940	chr4:99542475-99573350	Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs28591094	RP11-1299A16.3	cis	Muscle Skeletal	GTEx

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:99546600-99560000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr4:99546800-99559800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr4:99547800-99559200	Weak transcription	Stomach Mucosa	stomach
4	chr4:99548000-99560600	Weak transcription	Right Atrium	heart
5	chr4:99548000-99569200	Weak transcription	Gastric	stomach
6	chr4:99548000-99577000	Weak transcription	Esophagus	oesophagus
7	chr4:99548400-99563600	Weak transcription	HSMM	muscle
8	chr4:99549600-99563200	Weak transcription	HMEC	breast
9	chr4:99549800-99563600	Weak transcription	NHEK	skin
10	chr4:99550000-99563600	Weak transcription	HUVEC	blood vessel
11	chr4:99551800-99563200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr4:99552200-99559400	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr4:99552600-99569600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr4:99552800-99559200	Weak transcription	Placenta	Placenta
15	chr4:99552800-99560000	Weak transcription	Thymus	Thymus
16	chr4:99552800-99560200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr4:99552800-99569200	Weak transcription	Fetal Stomach	stomach
18	chr4:99553000-99559200	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr4:99553000-99559400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr4:99553200-99559400	Weak transcription	NHLF	lung
21	chr4:99553200-99564200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr4:99553600-99557400	Weak transcription	Fetal Heart	heart
23	chr4:99553600-99560000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr4:99554000-99558000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr4:99554000-99558400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr4:99554000-99564000	Weak transcription	Osteobl	bone
27	chr4:99554200-99558000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr4:99554200-99558000	Weak transcription	Brain Substantia Nigra	brain
29	chr4:99554200-99558200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr4:99554200-99558400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr4:99554200-99559200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr4:99554200-99559200	Weak transcription	NHDF-Ad	bronchial
33	chr4:99554200-99562600	Weak transcription	NH-A	brain
34	chr4:99554200-99564200	Weak transcription	Pancreas	Pancrea
35	chr4:99554200-99569200	Weak transcription	Spleen	Spleen
36	chr4:99554400-99558200	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr4:99554400-99564200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr4:99554800-99557200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr4:99555000-99561600	Weak transcription	Fetal Brain Male	brain
40	chr4:99555800-99557600	Enhancers	Fetal Brain Female	brain
41	chr4:99555800-99563200	Enhancers	Brain Cingulate Gyrus	brain
42	chr4:99556000-99558000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr4:99556400-99559800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr4:99556600-99558000	Weak transcription	Brain Hippocampus Middle	brain
45	chr4:99556600-99559200	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr4:99556600-99559200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr4:99556600-99560000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr4:99556600-99560600	Enhancers	Brain Anterior Caudate	brain
49	chr4:99556800-99557000	Enhancers	Sigmoid Colon	Sigmoid Colon
50	chr4:99556800-99558000	Weak transcription	Brain Angular Gyrus	brain

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