Variant report

Variant	rs59061110
Chromosome Location	chr2:54898571-54898572
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1431973	1.00[AMR][1000 genomes]
rs1431974	1.00[AMR][1000 genomes]
rs55633042	1.00[AMR][1000 genomes]
rs56196255	1.00[AMR][1000 genomes]
rs56951671	1.00[AMR][1000 genomes]
rs57086836	0.81[AFR][1000 genomes]
rs57406175	1.00[AMR][1000 genomes]
rs57539931	1.00[AMR][1000 genomes]
rs57926982	1.00[AMR][1000 genomes]
rs58204287	1.00[AMR][1000 genomes]
rs58924163	1.00[AMR][1000 genomes]
rs58987524	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59402608	1.00[AMR][1000 genomes]
rs60293507	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60542617	1.00[AMR][1000 genomes]
rs60611759	1.00[AMR][1000 genomes]
rs60965135	0.85[AFR][1000 genomes]
rs6740921	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	0.84[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	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
2	nsv582024	chr2:54894649-54999712	Active TSS Bivalent Enhancer Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54861800-54898600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
2	chr2:54863000-54898600	Strong transcription	Primary T helper cells fromperipheralblood	blood
3	chr2:54863000-54899400	Strong transcription	Primary T cells from cord blood	blood
4	chr2:54863800-54898600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr2:54868800-54898600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
6	chr2:54869600-54898600	Strong transcription	Fetal Thymus	thymus
7	chr2:54883000-54899400	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr2:54889200-54898600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr2:54891000-54899400	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr2:54891200-54899800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr2:54893000-54898600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
12	chr2:54893200-54898600	Strong transcription	HUES48 Cell Line	embryonic stem cell
13	chr2:54893200-54898600	Strong transcription	HUES6 Cell Line	embryonic stem cell
14	chr2:54893200-54898800	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr2:54893400-54898600	Strong transcription	Rectal Mucosa Donor 31	rectum
16	chr2:54893800-54898600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr2:54893800-54899600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr2:54893800-54900200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr2:54894000-54898600	Strong transcription	HUVEC	blood vessel
20	chr2:54894000-54899400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr2:54894000-54899600	Strong transcription	NH-A	brain
22	chr2:54894400-54898600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr2:54894600-54898800	Strong transcription	Fetal Brain Female	brain
24	chr2:54894600-54902200	Weak transcription	Psoas Muscle	Psoas
25	chr2:54894800-54900400	Weak transcription	Small Intestine	intestine
26	chr2:54894800-54900600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr2:54895200-54898800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr2:54895200-54900400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr2:54895400-54898600	Strong transcription	Cortex derived primary cultured neurospheres	brain
30	chr2:54895400-54898600	Strong transcription	Duodenum Mucosa	Duodenum
31	chr2:54895400-54900200	Strong transcription	Fetal Muscle Leg	muscle
32	chr2:54895400-54900400	Enhancers	Primary monocytes fromperipheralblood	blood
33	chr2:54895600-54899400	Strong transcription	Fetal Muscle Trunk	muscle
34	chr2:54895800-54899800	Weak transcription	Right Atrium	heart
35	chr2:54895800-54900000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr2:54895800-54900600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr2:54895800-54902200	Weak transcription	Ovary	ovary
38	chr2:54896200-54899800	Weak transcription	Esophagus	oesophagus
39	chr2:54896600-54899200	Genic enhancers	HSMMtube	muscle
40	chr2:54896600-54899400	Genic enhancers	HSMM	muscle
41	chr2:54896800-54900600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr2:54896800-54902400	Weak transcription	K562	blood
43	chr2:54897000-54898600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr2:54897000-54898600	Strong transcription	Fetal Kidney	kidney
45	chr2:54897000-54898600	Strong transcription	Rectal Mucosa Donor 29	rectum
46	chr2:54897000-54900400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr2:54897000-54900600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr2:54897000-54903800	Weak transcription	Brain Germinal Matrix	brain
49	chr2:54897200-54898600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr2:54897200-54898600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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