Variant report

Variant	rs58987524
Chromosome Location	chr2:54840971-54840972
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	chr2:54837203..54842761-chr2:54843020..54847377,6	K562	blood:
2	chr2:54815292..54817560-chr2:54840163..54841990,2	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1431973	1.00[AMR][1000 genomes]
rs1431974	1.00[AMR][1000 genomes]
rs3796015	0.80[AFR][1000 genomes]
rs41281495	0.81[AFR][1000 genomes]
rs55633042	1.00[AMR][1000 genomes]
rs56196255	1.00[AMR][1000 genomes]
rs56951671	1.00[AMR][1000 genomes]
rs57086836	0.85[AFR][1000 genomes]
rs57406175	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57539931	1.00[AMR][1000 genomes]
rs57926982	1.00[AMR][1000 genomes]
rs58204287	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58920119	0.81[AFR][1000 genomes]
rs58924163	1.00[AMR][1000 genomes]
rs59061110	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59402608	1.00[AMR][1000 genomes]
rs60293507	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60542617	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60611759	1.00[AMR][1000 genomes]
rs6740921	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73934512	1.00[AMR][1000 genomes]
rs73934514	1.00[AMR][1000 genomes]
rs73934808	1.00[AMR][1000 genomes]
rs73934809	1.00[AMR][1000 genomes]
rs73937514	1.00[AMR][1000 genomes]
rs73938306	1.00[AMR][1000 genomes]
rs7570695	0.96[AFR][1000 genomes];1.00[AMR][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	nsv998277	chr2:54710337-54849648	Genic enhancers Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	esv33638	chr2:54765256-55109455	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54829800-54859800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr2:54832400-54843400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr2:54832400-54843800	Weak transcription	Brain Germinal Matrix	brain
4	chr2:54833000-54841000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr2:54833400-54843400	Weak transcription	Fetal Brain Male	brain
6	chr2:54835400-54842600	Enhancers	Fetal Heart	heart
7	chr2:54836200-54842600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr2:54836800-54841400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr2:54837400-54841600	Genic enhancers	HepG2	liver
10	chr2:54837400-54842800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr2:54837800-54842600	Weak transcription	Small Intestine	intestine
12	chr2:54838200-54842600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr2:54838200-54842800	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr2:54838200-54843400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr2:54838600-54845600	Strong transcription	GM12878-XiMat	blood
16	chr2:54838800-54841000	Strong transcription	Sigmoid Colon	Sigmoid Colon
17	chr2:54838800-54841200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr2:54838800-54843800	Genic enhancers	Brain Hippocampus Middle	brain
19	chr2:54838800-54845800	Strong transcription	Primary B cells from cord blood	blood
20	chr2:54838800-54845800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr2:54838800-54846200	Enhancers	Right Atrium	heart
22	chr2:54838800-54848800	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr2:54838800-54860200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr2:54838800-54893400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr2:54839000-54846800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr2:54839000-54848200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr2:54839000-54864200	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr2:54839200-54841200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr2:54839200-54841200	Genic enhancers	Fetal Muscle Leg	muscle
30	chr2:54839200-54841600	Genic enhancers	Adipose Nuclei	Adipose
31	chr2:54839200-54841600	Enhancers	Psoas Muscle	Psoas
32	chr2:54839200-54841600	Genic enhancers	HSMM	muscle
33	chr2:54839200-54841800	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr2:54839200-54841800	Genic enhancers	Lung	lung
35	chr2:54839200-54841800	Genic enhancers	Right Ventricle	heart
36	chr2:54839200-54841800	Genic enhancers	Spleen	Spleen
37	chr2:54839200-54842200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
38	chr2:54839200-54842800	Strong transcription	Primary T cells from cord blood	blood
39	chr2:54839200-54843200	Genic enhancers	Brain Anterior Caudate	brain
40	chr2:54839200-54843200	Strong transcription	Fetal Intestine Small	intestine
41	chr2:54839200-54844600	Strong transcription	Primary T helper cells fromperipheralblood	blood
42	chr2:54839200-54845000	Strong transcription	Primary T helper cells PMA-I stimulated	--
43	chr2:54839200-54845200	Strong transcription	Primary hematopoietic stem cells	blood
44	chr2:54839200-54845200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr2:54839200-54845200	Strong transcription	Fetal Stomach	stomach
46	chr2:54839200-54845400	Strong transcription	Primary B cells from peripheral blood	blood
47	chr2:54839200-54845400	Strong transcription	Thymus	Thymus
48	chr2:54839200-54845600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr2:54839200-54845600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr2:54839200-54845600	Strong transcription	Rectal Mucosa Donor 29	rectum

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