Variant report

Variant	rs60282844
Chromosome Location	chr1:154128571-154128572
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:154126854-154128608	PFSK-1	brain:	n/a	n/a
2	POLR2A	chr1:154126091-154128677	PFSK-1	brain:	n/a	n/a
3	POLR2A	chr1:154126172-154128709	PANC-1	pancreas:	n/a	n/a
4	POLR2A	chr1:154126864-154128753	GM12878	blood:	n/a	n/a
5	POLR2A	chr1:154126845-154129319	GM12892	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:153962389..153965646-chr1:154127758..154130394,3	K562	blood:
2	chr1:154128396..154132314-chr1:154154377..154157554,5	MCF-7	breast:
3	chr1:154122896..154125457-chr1:154127729..154131254,3	MCF-7	breast:
4	chr1:154127794..154129352-chr1:154153718..154155371,2	K562	blood:

No data

Variant related genes	Relation type
NUP210L	TF binding region
ENSG00000143549	Chromatin interaction
ENSG00000177954	Chromatin interaction

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

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

rs_ID	r²[population]
rs11265238	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11802893	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12026177	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12028949	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12038362	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16835846	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16835852	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28372838	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3002660	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34128679	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34335016	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35761479	0.84[EUR][1000 genomes]
rs3811455	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3935419	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4433384	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4620534	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6676022	0.82[EUR][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	nsv999364	chr1:153622634-154419436	Strong transcription Genic enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	286 gene(s)	inside rSNPs	diseases
2	nsv535175	chr1:153622634-154419436	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	286 gene(s)	inside rSNPs	diseases
3	nsv532551	chr1:153732039-154192279	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	233 gene(s)	inside rSNPs	diseases
4	esv1830240	chr1:153885261-154370938	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	239 gene(s)	inside rSNPs	diseases
5	nsv948413	chr1:153974621-154797272	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
6	nsv1000402	chr1:153991106-154527053	Strong transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	106 gene(s)	inside rSNPs	diseases
7	nsv520398	chr1:154068196-154141908	Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
8	nsv1000153	chr1:154074249-154152417	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
9	nsv872451	chr1:154101519-154139757	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
10	nsv946404	chr1:154128123-154130312	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:154112200-154138400	Weak transcription	Psoas Muscle	Psoas
2	chr1:154124400-154129800	Weak transcription	Left Ventricle	heart
3	chr1:154125000-154130400	Weak transcription	Brain Hippocampus Middle	brain
4	chr1:154125200-154131000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
5	chr1:154125600-154129800	Weak transcription	Brain Angular Gyrus	brain
6	chr1:154125600-154129800	Weak transcription	Gastric	stomach
7	chr1:154125600-154130000	Weak transcription	Brain Germinal Matrix	brain
8	chr1:154125800-154129600	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr1:154126200-154128600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr1:154126200-154128800	Genic enhancers	Primary hematopoietic stem cells	blood
11	chr1:154126200-154128800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr1:154126200-154129400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr1:154126200-154129400	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
14	chr1:154126200-154129600	Weak transcription	HSMMtube	muscle
15	chr1:154126200-154130400	Genic enhancers	Primary T cells fromperipheralblood	blood
16	chr1:154126400-154128600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr1:154126400-154128600	Strong transcription	Thymus	Thymus
18	chr1:154126400-154129600	Genic enhancers	K562	blood
19	chr1:154126400-154129600	Genic enhancers	NHLF	lung
20	chr1:154126400-154129800	Strong transcription	Primary B cells from peripheral blood	blood
21	chr1:154126400-154129800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
22	chr1:154126400-154130400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr1:154126400-154133000	Weak transcription	Ovary	ovary
24	chr1:154126400-154146000	Strong transcription	HMEC	breast
25	chr1:154126600-154129600	Weak transcription	HepG2	liver
26	chr1:154126600-154130200	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
27	chr1:154126800-154128600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr1:154126800-154129800	Strong transcription	GM12878-XiMat	blood
29	chr1:154126800-154130000	Genic enhancers	Primary T helper cells PMA-I stimulated	--
30	chr1:154126800-154130200	Weak transcription	Fetal Brain Male	brain
31	chr1:154126800-154131600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr1:154127000-154129400	Genic enhancers	Primary T helper cells fromperipheralblood	blood
33	chr1:154127000-154129600	Strong transcription	Dnd41	blood
34	chr1:154127000-154130200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr1:154127000-154130200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr1:154127000-154130200	Genic enhancers	Primary neutrophils fromperipheralblood	blood
37	chr1:154127000-154130200	Strong transcription	Fetal Intestine Small	intestine
38	chr1:154127000-154131800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
39	chr1:154127000-154143400	Strong transcription	Muscle Satellite Cultured Cells	--
40	chr1:154127000-154143600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr1:154127000-154148400	Strong transcription	Fetal Intestine Large	intestine
42	chr1:154127000-154149600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr1:154127200-154128600	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
44	chr1:154127200-154129800	Strong transcription	Primary monocytes fromperipheralblood	blood
45	chr1:154127200-154130000	Strong transcription	Monocytes-CD14+_RO01746	blood
46	chr1:154127200-154131600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr1:154127200-154131600	Genic enhancers	Placenta	Placenta
48	chr1:154127200-154132400	Genic enhancers	Fetal Thymus	thymus
49	chr1:154127200-154146000	Strong transcription	Fetal Brain Female	brain
50	chr1:154127400-154128600	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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