Variant report

Variant	rs58247244
Chromosome Location	chr1:214810768-214810769
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:214808186..214810904-chr1:214813905..214816278,2	K562	blood:
2	chr1:214801262..214803726-chr1:214809634..214812012,2	MCF-7	breast:
3	chr1:214810454..214812694-chr1:214817423..214819818,2	K562	blood:
4	chr1:214800940..214802210-chr1:214810478..214811783,6	MCF-7	breast:
5	chr1:214804097..214807282-chr1:214807582..214811109,4	K562	blood:
6	chr1:214515058..214515630-chr1:214810706..214811356,2	MCF-7	breast:
7	chr1:214800806..214805673-chr1:214807375..214811280,6	MCF-7	breast:
8	chr1:214387921..214391479-chr1:214808622..214812122,3	MCF-7	breast:
9	chr1:214804097..214806246-chr1:214807582..214811806,3	K562	blood:

No data

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10494983	0.97[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs10494984	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11120372	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11805402	0.90[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12058704	0.97[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12060367	0.97[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12067133	0.97[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12071057	0.97[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12081395	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12096879	0.97[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12097817	0.97[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12097854	0.97[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12404854	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12405890	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12405995	0.97[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12408129	0.97[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12408153	0.97[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12410075	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17023274	0.97[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs17023275	0.97[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs17023278	0.97[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs17023282	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs17023284	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17023293	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17023299	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17023338	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17023380	0.97[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs17023384	0.97[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2070065	0.82[ASN][1000 genomes]
rs2070066	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2280049	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2292377	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2292378	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2292379	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2666839	0.82[ASN][1000 genomes]
rs3748692	0.97[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3748693	0.82[ASN][1000 genomes]
rs3748695	0.97[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs3748696	0.97[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs3748698	0.97[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs3790646	0.97[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3790647	0.97[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3790648	0.97[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs3790649	0.97[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs3795514	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3795516	0.97[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3795517	0.97[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3795518	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3795519	0.97[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3795520	0.97[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3795522	0.97[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3795523	0.97[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3795524	0.97[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs41303281	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58724390	0.97[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs59918378	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60944459	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61546198	0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs6669573	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[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	nsv1004475	chr1:214763778-215013375	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1005669	chr1:214774522-214994142	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv997864	chr1:214778658-214994142	Enhancers Genic enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1002937	chr1:214793813-214994142	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv1013284	chr1:214799847-214951184	Genic enhancers Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	nsv873165	chr1:214802299-214889859	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:214777600-214810800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr1:214777600-214838600	Weak transcription	Esophagus	oesophagus
3	chr1:214777800-214838400	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr1:214778000-214839200	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr1:214781200-214818000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr1:214783200-214817800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr1:214783400-214838800	Weak transcription	Fetal Kidney	kidney
8	chr1:214784600-214834000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:214785600-214819400	Strong transcription	K562	blood
10	chr1:214785600-214843800	Strong transcription	Fetal Thymus	thymus
11	chr1:214786200-214843000	Strong transcription	HUES64 Cell Line	embryonic stem cell
12	chr1:214786600-214833800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr1:214786600-214843200	Strong transcription	HUES6 Cell Line	embryonic stem cell
14	chr1:214786800-214843800	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr1:214787600-214842200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
16	chr1:214788200-214820600	Weak transcription	Fetal Heart	heart
17	chr1:214789000-214837400	Weak transcription	Small Intestine	intestine
18	chr1:214794400-214833200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr1:214795200-214838600	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr1:214801000-214812000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr1:214801000-214839600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr1:214801000-214843000	Strong transcription	HUES48 Cell Line	embryonic stem cell
23	chr1:214801200-214846000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
24	chr1:214801600-214811000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr1:214801600-214811000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr1:214801800-214816400	Strong transcription	Hela-S3	cervix
27	chr1:214801800-214841400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr1:214801800-214842600	Strong transcription	A549	lung
29	chr1:214801800-214844800	Strong transcription	H1 Cell Line	embryonic stem cell
30	chr1:214802000-214820400	Strong transcription	Primary neutrophils fromperipheralblood	blood
31	chr1:214802000-214842000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr1:214802400-214841600	Strong transcription	Primary monocytes fromperipheralblood	blood
33	chr1:214803200-214820000	Strong transcription	GM12878-XiMat	blood
34	chr1:214803400-214820400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr1:214804000-214858200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr1:214804200-214839400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr1:214804400-214816200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr1:214804600-214811000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr1:214804600-214818200	Weak transcription	Placenta	Placenta
40	chr1:214805800-214845800	Strong transcription	Dnd41	blood
41	chr1:214806000-214811200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr1:214806000-214812000	Weak transcription	Primary T cells fromperipheralblood	blood
43	chr1:214806000-214813200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr1:214806000-214840200	Weak transcription	Fetal Intestine Small	intestine
45	chr1:214806200-214810800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr1:214806200-214810800	Weak transcription	Primary T helper cells fromperipheralblood	blood
47	chr1:214806200-214811000	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr1:214806400-214810800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr1:214806400-214810800	Weak transcription	Primary T helper cells PMA-I stimulated	--
50	chr1:214806400-214811000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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