Variant report

Variant	rs2482860
Chromosome Location	chr1:62385270-62385271
allele	C/T
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:16)

rs_ID	r²[population]
rs2151124	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2251182	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2482861	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2482862	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2482863	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2482865	0.86[EUR][1000 genomes]
rs2482868	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2482881	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2482886	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2482888	0.87[EUR][1000 genomes]
rs2482889	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2498954	0.84[ASN][1000 genomes]
rs2498955	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2498958	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2498962	0.86[ASN][1000 genomes]
rs2498968	0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3693319	chr1:62207254-62402549	Bivalent/Poised TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv518627	chr1:62279594-62517947	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv522020	chr1:62279594-62517947	Active TSS ZNF genes & repeats Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv531876	chr1:62302313-62504349	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:62228600-62391800	Weak transcription	Small Intestine	intestine
2	chr1:62317800-62390400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr1:62336000-62408600	Weak transcription	Pancreas	Pancrea
4	chr1:62340400-62399200	Weak transcription	Primary hematopoietic stem cells	blood
5	chr1:62346000-62389400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr1:62346200-62417600	Weak transcription	Rectal Smooth Muscle	rectum
7	chr1:62350200-62397600	Weak transcription	Esophagus	oesophagus
8	chr1:62350600-62391600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr1:62350600-62428200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr1:62350800-62395800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr1:62350800-62397800	Weak transcription	Primary T cells from cord blood	blood
12	chr1:62350800-62417600	Weak transcription	Ovary	ovary
13	chr1:62353600-62396000	Weak transcription	Fetal Kidney	kidney
14	chr1:62353800-62385400	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr1:62353800-62408800	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr1:62361200-62390800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr1:62361600-62391800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr1:62361600-62408800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr1:62362000-62408600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr1:62363000-62391800	Weak transcription	Stomach Mucosa	stomach
21	chr1:62363400-62391400	Weak transcription	A549	lung
22	chr1:62372400-62408800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr1:62372400-62417600	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr1:62373400-62387400	Weak transcription	NHEK	skin
25	chr1:62374400-62388000	Weak transcription	HMEC	breast
26	chr1:62374600-62410600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr1:62374800-62386400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr1:62375200-62404600	Weak transcription	Stomach Smooth Muscle	stomach
29	chr1:62375600-62386000	Weak transcription	Lung	lung
30	chr1:62376200-62417600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr1:62376400-62386000	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr1:62377200-62396600	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr1:62379200-62387000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr1:62379400-62393600	Weak transcription	Right Ventricle	heart
35	chr1:62379800-62392800	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr1:62380600-62408600	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr1:62380800-62386600	Weak transcription	Right Atrium	heart
38	chr1:62380800-62390200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr1:62380800-62395800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr1:62380800-62410000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr1:62381000-62385600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr1:62381000-62393200	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr1:62381000-62393600	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chr1:62381000-62408200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr1:62381000-62416000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr1:62381200-62394600	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr1:62381200-62417400	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr1:62381200-62418400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr1:62381600-62402800	Weak transcription	HepG2	liver
50	chr1:62382400-62393400	Weak transcription	Liver	Liver

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