Variant report

Variant	rs59898254
Chromosome Location	chr5:37750078-37750079
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10071815	1.00[EUR][1000 genomes]
rs13188890	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1549251	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1549252	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28377651	1.00[EUR][1000 genomes]
rs28874633	1.00[EUR][1000 genomes]
rs2910798	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2972941	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2973074	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs41270339	0.86[EUR][1000 genomes]
rs55654436	0.86[EUR][1000 genomes]
rs56279820	0.86[EUR][1000 genomes]
rs6451341	1.00[EUR][1000 genomes]
rs67885658	0.86[EUR][1000 genomes]
rs72743159	0.86[EUR][1000 genomes]
rs72743164	0.86[EUR][1000 genomes]
rs72743166	0.97[EUR][1000 genomes]
rs72743167	0.86[EUR][1000 genomes]
rs72743169	0.86[EUR][1000 genomes]
rs72743170	0.86[EUR][1000 genomes]
rs72743176	0.86[EUR][1000 genomes]
rs72743180	0.86[EUR][1000 genomes]
rs72743185	0.86[EUR][1000 genomes]
rs72743187	0.86[EUR][1000 genomes]
rs72743190	0.86[EUR][1000 genomes]
rs72743192	0.86[EUR][1000 genomes]
rs72743193	0.86[EUR][1000 genomes]
rs72743196	0.86[EUR][1000 genomes]
rs72743200	0.86[EUR][1000 genomes]
rs72743201	0.86[EUR][1000 genomes]
rs72743202	0.86[EUR][1000 genomes]
rs72745106	0.86[EUR][1000 genomes]
rs72745108	0.86[EUR][1000 genomes]
rs7448783	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7705963	1.00[EUR][1000 genomes]
rs7722257	1.00[EUR][1000 genomes]
rs7737640	1.00[EUR][1000 genomes]
rs9283746	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949716	chr5:37179341-37967352	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
2	nsv1023871	chr5:37330018-37804744	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv537729	chr5:37330018-37804744	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv597846	chr5:37430215-37813591	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv881383	chr5:37485316-37773877	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:37717800-37756200	Weak transcription	Right Ventricle	heart
2	chr5:37718400-37755800	Weak transcription	Spleen	Spleen
3	chr5:37721400-37764200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr5:37728000-37757200	Weak transcription	Rectal Smooth Muscle	rectum
5	chr5:37728000-37758800	Weak transcription	Brain Germinal Matrix	brain
6	chr5:37728800-37754400	Weak transcription	Placenta	Placenta
7	chr5:37729400-37753200	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr5:37729600-37755800	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr5:37730200-37752000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr5:37730200-37757000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr5:37730400-37752200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr5:37736200-37752200	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr5:37736200-37752400	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr5:37737800-37754000	Weak transcription	Left Ventricle	heart
15	chr5:37738400-37757200	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr5:37738800-37756400	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr5:37738800-37757400	Weak transcription	Brain Anterior Caudate	brain
18	chr5:37739000-37757200	Weak transcription	Duodenum Mucosa	Duodenum
19	chr5:37739200-37751200	Weak transcription	NHEK	skin
20	chr5:37739200-37757600	Weak transcription	A549	lung
21	chr5:37739400-37751200	Weak transcription	HMEC	breast
22	chr5:37739400-37752800	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr5:37739600-37757200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr5:37740800-37756200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr5:37741200-37757400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr5:37741800-37751200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr5:37742000-37751200	Weak transcription	HSMM	muscle
28	chr5:37742400-37751200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr5:37742400-37751200	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr5:37742400-37753200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr5:37742600-37751400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr5:37742800-37753400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr5:37743600-37752400	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr5:37743800-37751200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr5:37743800-37751400	Weak transcription	HSMMtube	muscle
36	chr5:37743800-37754800	Weak transcription	Liver	Liver
37	chr5:37744000-37751200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr5:37744200-37753200	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr5:37744200-37755000	Weak transcription	Ovary	ovary
40	chr5:37744200-37755800	Weak transcription	Gastric	stomach
41	chr5:37744200-37757200	Weak transcription	Dnd41	blood
42	chr5:37744200-37769200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr5:37744400-37751200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr5:37744400-37751400	Weak transcription	Primary B cells from cord blood	blood
45	chr5:37744400-37751800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr5:37744600-37754000	Weak transcription	Fetal Stomach	stomach
47	chr5:37744600-37754400	Weak transcription	Aorta	Aorta
48	chr5:37744600-37754600	Weak transcription	Primary T cells from cord blood	blood
49	chr5:37744600-37755400	Weak transcription	Primary B cells from peripheral blood	blood
50	chr5:37744600-37756800	Weak transcription	Monocytes-CD14+_RO01746	blood

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