Variant report

Variant	rs59167843
Chromosome Location	chr2:53935111-53935112
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs13012697	1.00[AMR][1000 genomes]
rs17045119	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61226930	1.00[AMR][1000 genomes]
rs73934724	1.00[AMR][1000 genomes]
rs73934977	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73934979	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73937405	1.00[AMR][1000 genomes]
rs7563334	1.00[AMR][1000 genomes]
rs7599068	1.00[AMR][1000 genomes]
rs7605590	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916267	chr2:53747525-53955999	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv984439	chr2:53861720-53955437	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1003263	chr2:53863287-54055359	Strong transcription Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv535720	chr2:53863287-54055359	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv1011449	chr2:53894529-53947781	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1009107	chr2:53896767-53946913	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv1014949	chr2:53896767-53947781	Strong transcription ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv1011400	chr2:53899956-53947781	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv834058	chr2:53900674-54072011	Strong transcription Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
10	esv1844655	chr2:53929855-53972693	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:53888400-53935200	Weak transcription	Fetal Brain Male	brain
2	chr2:53888600-53935200	Weak transcription	Hela-S3	cervix
3	chr2:53889000-53935800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr2:53896800-53936600	Weak transcription	Aorta	Aorta
5	chr2:53898000-53957400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr2:53898200-53935400	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr2:53898200-53935400	Weak transcription	Fetal Kidney	kidney
8	chr2:53900600-53935600	Weak transcription	K562	blood
9	chr2:53900800-53936400	Weak transcription	NH-A	brain
10	chr2:53900800-53936800	Weak transcription	NHLF	lung
11	chr2:53906800-53935200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr2:53908600-53982200	Weak transcription	Small Intestine	intestine
13	chr2:53909000-53935200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr2:53910000-53935200	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr2:53910000-53941600	Weak transcription	Colon Smooth Muscle	Colon
16	chr2:53910000-53994000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr2:53910200-53990600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr2:53911400-53935400	Weak transcription	Right Ventricle	heart
19	chr2:53911600-53936200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr2:53912400-53936200	Weak transcription	Gastric	stomach
21	chr2:53913000-53936200	Weak transcription	Spleen	Spleen
22	chr2:53917600-53936200	Weak transcription	Esophagus	oesophagus
23	chr2:53918400-53994000	Weak transcription	Fetal Heart	heart
24	chr2:53919000-53935800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr2:53921800-53935800	Weak transcription	Brain Substantia Nigra	brain
26	chr2:53922400-53935200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr2:53924400-53935400	Weak transcription	Colonic Mucosa	Colon
28	chr2:53925000-53936200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr2:53925200-53935200	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr2:53925200-53935400	Weak transcription	Rectal Smooth Muscle	rectum
31	chr2:53925400-53935800	Weak transcription	A549	lung
32	chr2:53925400-53979400	Weak transcription	Psoas Muscle	Psoas
33	chr2:53926000-53935800	Weak transcription	HSMMtube	muscle
34	chr2:53926800-53936000	Weak transcription	Brain Hippocampus Middle	brain
35	chr2:53927000-53935800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr2:53927600-53935200	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr2:53927600-53935200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr2:53927600-53935200	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr2:53927600-53935200	Weak transcription	Primary hematopoietic stem cells	blood
40	chr2:53927600-53935200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr2:53927600-53935200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr2:53927600-53935200	Weak transcription	Placenta	Placenta
43	chr2:53927600-53935200	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr2:53927600-53935400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr2:53927600-53935800	Weak transcription	Left Ventricle	heart
46	chr2:53927600-53936400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr2:53927600-53937200	Weak transcription	HSMM	muscle
48	chr2:53927600-53960200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr2:53927800-53935400	Weak transcription	Primary T helper cells PMA-I stimulated	--
50	chr2:53929800-53935200	Weak transcription	Pancreatic Islets	Pancreatic Islet

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