Variant report

Variant	rs2604454
Chromosome Location	chr15:59098732-59098733
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11071398	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2555357	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs387812	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs411007	0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs421829	0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs446126	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs452698	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs514049	0.81[ASN][1000 genomes]
rs682619	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs688756	0.86[ASN][1000 genomes]
rs72745027	0.89[ASN][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	esv34110	chr15:58949991-59381634	Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	esv1843037	chr15:59005922-59115159	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
3	esv1826703	chr15:59005922-59213678	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	esv1798487	chr15:59027139-59213678	Strong transcription Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
5	nsv428638	chr15:59032300-59126567	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:59064600-59102800	Weak transcription	Lung	lung
2	chr15:59064600-59102800	Weak transcription	Pancreas	Pancrea
3	chr15:59064600-59103200	Weak transcription	Esophagus	oesophagus
4	chr15:59064600-59145600	Weak transcription	Gastric	stomach
5	chr15:59065200-59117800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr15:59065800-59102800	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr15:59065800-59103200	Weak transcription	NH-A	brain
8	chr15:59065800-59142800	Weak transcription	Aorta	Aorta
9	chr15:59066000-59102400	Weak transcription	HSMM	muscle
10	chr15:59066600-59102400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr15:59067000-59102400	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr15:59067000-59102800	Weak transcription	Stomach Smooth Muscle	stomach
13	chr15:59067000-59102800	Weak transcription	NHDF-Ad	bronchial
14	chr15:59067000-59157800	Weak transcription	Hela-S3	cervix
15	chr15:59067200-59103200	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr15:59067400-59102600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr15:59067400-59102800	Weak transcription	Brain Angular Gyrus	brain
18	chr15:59067400-59111400	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr15:59067800-59105000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr15:59069400-59103600	Weak transcription	Brain Germinal Matrix	brain
21	chr15:59069600-59106000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr15:59069600-59119000	Weak transcription	Fetal Brain Male	brain
23	chr15:59069800-59102600	Weak transcription	HUVEC	blood vessel
24	chr15:59069800-59121400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr15:59072000-59105600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr15:59075000-59102800	Weak transcription	Brain Hippocampus Middle	brain
27	chr15:59075000-59139800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr15:59075800-59102800	Weak transcription	Brain Anterior Caudate	brain
29	chr15:59077400-59102000	Weak transcription	NHLF	lung
30	chr15:59077600-59102200	Weak transcription	Fetal Brain Female	brain
31	chr15:59077800-59103000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr15:59077800-59122000	Weak transcription	Brain Substantia Nigra	brain
33	chr15:59077800-59153600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr15:59078200-59102800	Weak transcription	Ovary	ovary
35	chr15:59079000-59102600	Weak transcription	HSMMtube	muscle
36	chr15:59081800-59102000	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr15:59083000-59101200	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr15:59083000-59102800	Weak transcription	Dnd41	blood
39	chr15:59083800-59102600	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr15:59084800-59102800	Weak transcription	Thymus	Thymus
41	chr15:59085000-59102400	Weak transcription	Liver	Liver
42	chr15:59085200-59099800	Weak transcription	Primary B cells from cord blood	blood
43	chr15:59085200-59102600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr15:59086200-59125800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr15:59086400-59125800	Weak transcription	Right Ventricle	heart
46	chr15:59086600-59102800	Weak transcription	Fetal Kidney	kidney
47	chr15:59087200-59104600	Weak transcription	HMEC	breast
48	chr15:59088400-59100200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr15:59088400-59102800	Weak transcription	Primary T helper cells PMA-I stimulated	--
50	chr15:59088400-59103000	Weak transcription	Spleen	Spleen

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