Variant report

Variant	rs60422848
Chromosome Location	chr1:62333438-62333439
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10157116	0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12022000	0.90[ASN][1000 genomes]
rs12022830	0.98[ASN][1000 genomes]
rs12025222	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12029243	0.98[ASN][1000 genomes]
rs1286816	0.80[EUR][1000 genomes]
rs17380420	0.98[ASN][1000 genomes]
rs2275859	0.98[ASN][1000 genomes]
rs57557053	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58052322	0.98[ASN][1000 genomes]
rs58932514	0.98[ASN][1000 genomes]
rs7515512	1.00[ASN][1000 genomes]
rs7554677	0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1000294	chr1:61746280-62350718	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	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
3	nsv830004	chr1:62242944-62382228	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:62228600-62391800	Weak transcription	Small Intestine	intestine
2	chr1:62263800-62343600	Weak transcription	Colonic Mucosa	Colon
3	chr1:62264600-62335600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr1:62285600-62338000	Weak transcription	Fetal Kidney	kidney
5	chr1:62293800-62343200	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr1:62312800-62353200	Weak transcription	Colon Smooth Muscle	Colon
7	chr1:62313200-62339400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr1:62316200-62352200	Weak transcription	Brain Anterior Caudate	brain
9	chr1:62317800-62390400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr1:62319000-62373800	Weak transcription	Brain Angular Gyrus	brain
11	chr1:62320000-62334200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr1:62320200-62335400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr1:62320200-62349800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr1:62320400-62335200	Weak transcription	Brain Germinal Matrix	brain
15	chr1:62320800-62334400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr1:62320800-62334600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
17	chr1:62320800-62353200	Weak transcription	A549	lung
18	chr1:62321000-62343600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr1:62321400-62334200	Strong transcription	Primary T helper cells fromperipheralblood	blood
20	chr1:62321600-62333800	Strong transcription	Duodenum Mucosa	Duodenum
21	chr1:62321600-62353200	Weak transcription	Adipose Nuclei	Adipose
22	chr1:62322000-62335000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr1:62323600-62335200	Weak transcription	Primary B cells from peripheral blood	blood
24	chr1:62323600-62335400	Weak transcription	Fetal Brain Female	brain
25	chr1:62323800-62355200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr1:62324400-62361000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr1:62324600-62336000	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr1:62325000-62357400	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr1:62327800-62337800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr1:62328400-62335400	Weak transcription	Spleen	Spleen
31	chr1:62329800-62335800	Weak transcription	Brain Hippocampus Middle	brain
32	chr1:62330400-62343600	Weak transcription	Right Ventricle	heart
33	chr1:62330400-62345800	Weak transcription	Rectal Smooth Muscle	rectum
34	chr1:62330400-62361000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr1:62330600-62339400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr1:62330600-62349800	Weak transcription	Stomach Smooth Muscle	stomach
37	chr1:62330600-62350000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr1:62330800-62339200	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr1:62331600-62371800	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr1:62331800-62333600	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr1:62331800-62335200	Weak transcription	Fetal Intestine Small	intestine
42	chr1:62331800-62335200	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr1:62331800-62335400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr1:62331800-62335400	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr1:62331800-62335400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr1:62331800-62335400	Weak transcription	Aorta	Aorta
47	chr1:62331800-62335400	Weak transcription	Esophagus	oesophagus
48	chr1:62331800-62335400	Weak transcription	Fetal Intestine Large	intestine
49	chr1:62331800-62335400	Weak transcription	Lung	lung
50	chr1:62331800-62335400	Weak transcription	Ovary	ovary

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