Variant report

Variant	rs57557053
Chromosome Location	chr1:62323744-62323745
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:62319433..62321663-chr1:62323711..62326271,2	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10157116	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12022000	0.90[ASN][1000 genomes]
rs12022830	0.98[ASN][1000 genomes]
rs12025222	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12029243	0.98[ASN][1000 genomes]
rs17380420	0.98[ASN][1000 genomes]
rs2275859	0.98[ASN][1000 genomes]
rs58052322	0.98[ASN][1000 genomes]
rs58932514	0.98[ASN][1000 genomes]
rs60422848	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7515512	1.00[AFR][1000 genomes];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	chr1:62271800-62329800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr1:62285600-62338000	Weak transcription	Fetal Kidney	kidney
6	chr1:62290800-62326000	Weak transcription	Left Ventricle	heart
7	chr1:62293800-62343200	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr1:62294400-62330200	Weak transcription	Fetal Stomach	stomach
9	chr1:62294800-62324000	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr1:62298000-62330000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr1:62301400-62331400	Weak transcription	Psoas Muscle	Psoas
12	chr1:62302600-62331400	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr1:62308800-62331600	Weak transcription	Stomach Mucosa	stomach
14	chr1:62309400-62331400	Weak transcription	Gastric	stomach
15	chr1:62312800-62353200	Weak transcription	Colon Smooth Muscle	Colon
16	chr1:62313000-62330200	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr1:62313200-62339400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr1:62316200-62352200	Weak transcription	Brain Anterior Caudate	brain
19	chr1:62316600-62323800	Weak transcription	Aorta	Aorta
20	chr1:62317200-62325800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr1:62317200-62326200	Weak transcription	Lung	lung
22	chr1:62317800-62390400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr1:62318400-62326200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr1:62319000-62373800	Weak transcription	Brain Angular Gyrus	brain
25	chr1:62319800-62329800	Weak transcription	HepG2	liver
26	chr1:62320000-62325000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr1:62320000-62334200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr1:62320200-62330000	Weak transcription	Fetal Lung	lung
29	chr1:62320200-62335400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr1:62320200-62349800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr1:62320400-62335200	Weak transcription	Brain Germinal Matrix	brain
32	chr1:62320600-62325000	Strong transcription	HUES64 Cell Line	embryonic stem cell
33	chr1:62320800-62323800	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr1:62320800-62331800	Strong transcription	Fetal Intestine Small	intestine
35	chr1:62320800-62334400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr1:62320800-62334600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
37	chr1:62320800-62353200	Weak transcription	A549	lung
38	chr1:62321000-62325200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr1:62321000-62332000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr1:62321000-62343600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr1:62321200-62323800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr1:62321200-62324800	Strong transcription	Rectal Mucosa Donor 29	rectum
43	chr1:62321200-62331800	Strong transcription	HUES48 Cell Line	embryonic stem cell
44	chr1:62321400-62326200	Strong transcription	Primary T helper cells PMA-I stimulated	--
45	chr1:62321400-62326200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr1:62321400-62333200	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr1:62321400-62334200	Strong transcription	Primary T helper cells fromperipheralblood	blood
48	chr1:62321600-62324000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
49	chr1:62321600-62324400	Strong transcription	Esophagus	oesophagus
50	chr1:62321600-62324800	Strong transcription	iPS-18 Cell Line	embryonic stem cell

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