Variant report

Variant	rs60535592
Chromosome Location	chr5:36902291-36902292
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10214226	1.00[EUR][1000 genomes]
rs16903380	1.00[EUR][1000 genomes]
rs16903415	1.00[EUR][1000 genomes]
rs2001478	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57402531	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57591687	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59713841	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60213369	1.00[EUR][1000 genomes]
rs60605472	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv492319	chr5:36570707-37061019	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv525478	chr5:36804225-37349895	Strong transcription Transcr. at gene 5' and 3' Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
3	nsv532133	chr5:36834932-36906436	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
4	esv1793961	chr5:36866835-37361728	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
5	nsv530225	chr5:36886635-37331912	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
6	nsv830264	chr5:36887002-36941494	Strong transcription Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv1024051	chr5:36899712-37303001	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
8	nsv537725	chr5:36899712-37303001	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:36886400-36904800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr5:36886600-36904800	Weak transcription	Right Ventricle	heart
3	chr5:36886600-36909200	Weak transcription	Left Ventricle	heart
4	chr5:36886600-36910400	Weak transcription	Ovary	ovary
5	chr5:36888200-36902400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr5:36888200-36910400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr5:36888800-36911000	Weak transcription	Fetal Lung	lung
8	chr5:36895800-36918800	Weak transcription	Small Intestine	intestine
9	chr5:36895800-36928600	Weak transcription	HSMM	muscle
10	chr5:36896200-36908000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr5:36896400-36904600	Weak transcription	Primary T cells from cord blood	blood
12	chr5:36896600-36904400	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr5:36897400-36904200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr5:36897800-36903600	Weak transcription	NHLF	lung
15	chr5:36898000-36902800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr5:36898000-36907200	Weak transcription	Stomach Mucosa	stomach
17	chr5:36898400-36905600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr5:36899000-36904200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr5:36899000-36926400	Weak transcription	Gastric	stomach
20	chr5:36899600-36902600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr5:36899800-36904200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr5:36900000-36902400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr5:36900000-36902800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr5:36900200-36908400	Weak transcription	Colon Smooth Muscle	Colon
25	chr5:36900600-36902400	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr5:36900600-36902600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr5:36900600-36904600	Weak transcription	Psoas Muscle	Psoas
28	chr5:36900600-36904800	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr5:36901000-36904600	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr5:36901000-36908800	Weak transcription	Fetal Heart	heart
31	chr5:36901200-36903000	ZNF genes & repeats	Primary B cells from peripheral blood	blood
32	chr5:36901200-36904600	Weak transcription	Primary neutrophils fromperipheralblood	blood
33	chr5:36901800-36902400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr5:36902000-36911400	Enhancers	Primary T helper cells fromperipheralblood	blood
35	chr5:36902200-36902800	ZNF genes & repeats	Brain Hippocampus Middle	brain
36	chr5:36902200-36903400	ZNF genes & repeats	Primary B cells from cord blood	blood
37	chr5:36902200-36903600	Enhancers	Primary T killer memory cells from peripheral blood	blood

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