Variant report

Variant	rs17520854
Chromosome Location	chr2:53942589-53942590
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:53925981..53927589-chr2:53940700..53943084,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs17045203	0.85[AMR][1000 genomes]
rs2287340	0.83[AMR][1000 genomes]
rs2692535	0.87[AMR][1000 genomes]
rs2949813	0.87[AMR][1000 genomes]
rs3770395	0.81[AMR][1000 genomes]
rs3770397	0.81[AMR][1000 genomes]
rs3922262	0.87[AMR][1000 genomes]
rs55897904	0.85[AMR][1000 genomes]
rs58326257	0.81[AMR][1000 genomes]
rs62137573	0.85[AMR][1000 genomes]
rs62137606	0.81[AMR][1000 genomes]
rs62137610	0.85[AMR][1000 genomes]
rs62137611	0.87[AMR][1000 genomes]
rs62137612	0.87[AMR][1000 genomes]
rs72901256	0.85[AMR][1000 genomes]
rs7600817	0.81[AMR][1000 genomes]
rs805403	1.00[AFR][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:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:53898000-53957400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr2:53908600-53982200	Weak transcription	Small Intestine	intestine
3	chr2:53910000-53994000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr2:53910200-53990600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr2:53918400-53994000	Weak transcription	Fetal Heart	heart
6	chr2:53925400-53979400	Weak transcription	Psoas Muscle	Psoas
7	chr2:53927600-53960200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr2:53933800-53944000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr2:53936600-53944200	Strong transcription	Primary T helper cells PMA-I stimulated	--
10	chr2:53936600-53945400	Weak transcription	Colonic Mucosa	Colon
11	chr2:53936600-53968400	Weak transcription	Pancreas	Pancrea
12	chr2:53936600-53978600	Weak transcription	Hela-S3	cervix
13	chr2:53936800-53985400	Weak transcription	Stomach Smooth Muscle	stomach
14	chr2:53937000-53943400	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr2:53937000-53944200	Strong transcription	Primary B cells from peripheral blood	blood
16	chr2:53937000-53983800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr2:53937000-53994400	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr2:53937200-53943200	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr2:53937200-53944000	Strong transcription	Primary T helper cells fromperipheralblood	blood
20	chr2:53937200-53944800	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr2:53937200-53949400	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr2:53937200-53954000	Weak transcription	Fetal Muscle Trunk	muscle
23	chr2:53937200-53955800	Weak transcription	Brain Substantia Nigra	brain
24	chr2:53937200-53961400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr2:53937200-53964400	Weak transcription	Aorta	Aorta
26	chr2:53937200-53966800	Weak transcription	Gastric	stomach
27	chr2:53937200-53978600	Weak transcription	NH-A	brain
28	chr2:53937200-53983600	Weak transcription	Right Ventricle	heart
29	chr2:53937200-53994200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr2:53937400-53943200	Weak transcription	Ovary	ovary
31	chr2:53937400-53944000	Strong transcription	Fetal Thymus	thymus
32	chr2:53937400-53945000	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr2:53937400-53945200	Weak transcription	Brain Germinal Matrix	brain
34	chr2:53937400-53945200	Weak transcription	Spleen	Spleen
35	chr2:53937400-53946200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr2:53937400-53949600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr2:53937400-53954000	Weak transcription	Primary neutrophils fromperipheralblood	blood
38	chr2:53937400-53964000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr2:53937400-53979600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr2:53937400-53990200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr2:53937400-53994400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr2:53937600-53943400	Weak transcription	Stomach Mucosa	stomach
43	chr2:53937600-53961600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr2:53937800-53944200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr2:53937800-53957000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr2:53938000-53944000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr2:53938000-53944400	Strong transcription	Monocytes-CD14+_RO01746	blood
48	chr2:53938000-53956400	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr2:53938000-53961400	Weak transcription	NHEK	skin
50	chr2:53938000-53974800	Weak transcription	H1 Cell Line	embryonic stem cell

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