Variant report

Variant	rs6874530
Chromosome Location	chr5:93349150-93349151
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10514379	0.84[AFR][1000 genomes]
rs17083418	0.84[AFR][1000 genomes]
rs61034760	0.84[AFR][1000 genomes]
rs73773535	0.84[AFR][1000 genomes]
rs73773542	1.00[AMR][1000 genomes]
rs73773558	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73773563	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7701447	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7703367	0.84[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532196	chr5:92933949-93573527	Strong transcription Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv882384	chr5:93136661-93380123	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:93297400-93349600	Weak transcription	Aorta	Aorta
2	chr5:93327000-93394600	Weak transcription	Small Intestine	intestine
3	chr5:93329200-93357000	Weak transcription	HSMM	muscle
4	chr5:93331000-93353000	Weak transcription	Fetal Thymus	thymus
5	chr5:93331600-93357200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr5:93337800-93350800	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr5:93338200-93350600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr5:93341200-93357400	Weak transcription	Fetal Stomach	stomach
9	chr5:93341600-93350800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr5:93345000-93395200	Weak transcription	Rectal Smooth Muscle	rectum
11	chr5:93345200-93350800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr5:93345400-93352400	Weak transcription	Ovary	ovary
13	chr5:93345800-93351400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr5:93345800-93351800	Weak transcription	Liver	Liver
15	chr5:93346400-93350600	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr5:93346400-93351600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr5:93346600-93350400	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr5:93346600-93350600	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr5:93346600-93356800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr5:93346600-93365800	Weak transcription	Left Ventricle	heart
21	chr5:93346600-93376400	Weak transcription	Fetal Muscle Trunk	muscle
22	chr5:93346800-93349600	Strong transcription	Primary T cells from cord blood	blood
23	chr5:93346800-93349600	Weak transcription	Duodenum Mucosa	Duodenum
24	chr5:93346800-93349600	Weak transcription	Lung	lung
25	chr5:93347000-93349800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr5:93347000-93356800	Weak transcription	NHDF-Ad	bronchial
27	chr5:93347000-93357000	Weak transcription	Pancreas	Pancrea
28	chr5:93347000-93357200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr5:93347000-93380000	Weak transcription	Thymus	Thymus
30	chr5:93347200-93351600	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr5:93347400-93354000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr5:93347400-93354600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr5:93347400-93357200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr5:93347600-93352200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr5:93347800-93349200	Enhancers	Placenta	Placenta
36	chr5:93347800-93350200	Strong transcription	Primary B cells from cord blood	blood
37	chr5:93348000-93349200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr5:93348000-93350600	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr5:93348000-93351600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr5:93348200-93349800	Strong transcription	Primary T helper cells fromperipheralblood	blood
41	chr5:93348200-93350200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr5:93348200-93350800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
43	chr5:93348200-93352800	Weak transcription	Stomach Smooth Muscle	stomach
44	chr5:93348400-93350600	Weak transcription	Brain Substantia Nigra	brain
45	chr5:93348400-93350800	Weak transcription	Dnd41	blood
46	chr5:93348400-93352800	Weak transcription	Fetal Lung	lung
47	chr5:93348400-93399000	Weak transcription	Esophagus	oesophagus
48	chr5:93348600-93349400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr5:93348600-93356800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr5:93348600-93361600	Weak transcription	Gastric	stomach

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