Variant report

Variant	rs74125063
Chromosome Location	chr1:151028125-151028126
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:29)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:29 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:151027735-151029650	GM12878	blood:	n/a	n/a
2	POLR2A	chr1:151019747-151029675	K562	blood:	n/a	n/a
3	TAL1	chr1:151027279-151028190	K562	blood:	n/a	n/a
4	POLR2A	chr1:151027303-151028204	K562	blood:	n/a	n/a
5	POLR2A	chr1:151023510-151029710	K562	blood:	n/a	n/a
6	TEAD4	chr1:151027186-151028128	K562	blood:	n/a	n/a
7	NR2F2	chr1:151027131-151028879	K562	blood:	n/a	n/a
8	POLR2A	chr1:151027298-151029427	K562	blood:	n/a	n/a
9	POLR2A	chr1:151027701-151029673	GM12892	blood:	n/a	n/a
10	POLR2A	chr1:151027984-151028214	GM12878	blood:	n/a	n/a
11	POLR2A	chr1:151027353-151029436	K562	blood:	n/a	n/a
12	POLR2A	chr1:151027549-151028445	GM12892	blood:	n/a	n/a
13	POLR2A	chr1:151026611-151028365	K562	blood:	n/a	n/a
14	CHD2	chr1:151027496-151028160	K562	blood:	n/a	n/a
15	POLR2A	chr1:151027375-151028855	PFSK-1	brain:	n/a	n/a
16	POLR2A	chr1:151021903-151029745	GM12878	blood:	n/a	n/a
17	CUX1	chr1:151027192-151028246	K562	blood:	n/a	n/a
18	RCOR1	chr1:151027322-151028168	K562	blood:	n/a	n/a
19	POLR2A	chr1:151027220-151029690	K562	blood:	n/a	n/a
20	CEBPB	chr1:151027386-151028163	K562	blood:	n/a	chr1:151027868-151027879
21	TRIM28	chr1:151027327-151028133	K562	blood:	n/a	n/a
22	POLR2A	chr1:151027670-151028296	GM12891	blood:	n/a	n/a
23	POLR2A	chr1:151027402-151028537	K562	blood:	n/a	n/a
24	JUND	chr1:151027353-151028205	K562	blood:	n/a	n/a
25	TBL1XR1	chr1:151027059-151028132	K562	blood:	n/a	n/a
26	POLR2A	chr1:151027457-151029400	K562	blood:	n/a	n/a
27	POLR2A	chr1:151027637-151028330	GM12892	blood:	n/a	n/a
28	POLR2A	chr1:151028104-151028142	HepG2	liver:	n/a	n/a
29	POLR2A	chr1:151027138-151029730	GM12878	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:151005028..151012583-chr1:151026392..151034442,13	K562	blood:
2	chr1:150950574..150954547-chr1:151027400..151032185,6	MCF-7	breast:
3	chr1:151027302..151028913-chr1:151103376..151105048,2	MCF-7	breast:
4	chr1:150980774..150986118-chr1:151028117..151032528,6	MCF-7	breast:
5	chr1:151027658..151029409-chr1:151300296..151301858,2	K562	blood:
6	chr1:150976723..150987587-chr1:151024685..151036322,24	MCF-7	breast:
7	chr1:151027474..151029846-chr1:151254006..151256082,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CDC42SE1-1	chr1:151028059-151028469	NONHSAT006355

No data

Variant related genes	Relation type
MLLT11	TF binding region
ENSG00000143373	Chromatin interaction
ENSG00000143363	Chromatin interaction
ENSG00000143412	Chromatin interaction
ENSG00000261168	Chromatin interaction
ENSG00000273481	Chromatin interaction
ENSG00000232671	Chromatin interaction
ENSG00000143409	Chromatin interaction
ENSG00000163141	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs41299635	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41310891	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55716130	1.00[AMR][1000 genomes]
rs55935377	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57330524	1.00[AMR][1000 genomes]
rs58618837	1.00[AMR][1000 genomes]
rs58763463	1.00[AMR][1000 genomes]
rs59737164	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60636837	1.00[AMR][1000 genomes]
rs60865304	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74125051	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74125053	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74125059	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74125062	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74125065	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74125077	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74125079	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74125080	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74125087	1.00[AMR][1000 genomes]
rs74125088	1.00[AMR][1000 genomes]
rs74125093	1.00[AMR][1000 genomes]
rs74127505	1.00[AMR][1000 genomes]
rs74127506	1.00[AMR][1000 genomes]
rs74127513	1.00[AMR][1000 genomes]
rs74127514	1.00[AMR][1000 genomes]
rs74127515	1.00[AMR][1000 genomes]
rs74127528	1.00[AMR][1000 genomes]
rs74127529	1.00[AMR][1000 genomes]
rs74127530	1.00[AMR][1000 genomes]
rs74127531	1.00[AMR][1000 genomes]
rs74127535	1.00[AMR][1000 genomes]
rs74127536	1.00[AMR][1000 genomes]
rs74127539	1.00[AMR][1000 genomes]
rs74127540	1.00[AMR][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	nsv1001897	chr1:150743271-151241600	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv535158	chr1:150743271-151241600	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
3	nsv522840	chr1:150933723-151347746	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	169 gene(s)	inside rSNPs	diseases
4	nsv916272	chr1:150961809-151557253	Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	219 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151021200-151030400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:151021400-151029000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:151021400-151030000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:151022000-151030000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:151022400-151028600	Strong transcription	Muscle Satellite Cultured Cells	--
6	chr1:151022400-151029000	Strong transcription	NH-A	brain
7	chr1:151022400-151029200	Strong transcription	Fetal Muscle Trunk	muscle
8	chr1:151022400-151029200	Strong transcription	NHDF-Ad	bronchial
9	chr1:151022400-151029400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
10	chr1:151022600-151028200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr1:151022600-151028600	Strong transcription	HSMM	muscle
12	chr1:151022600-151029200	Strong transcription	HUES6 Cell Line	embryonic stem cell
13	chr1:151022800-151029400	Strong transcription	Cortex derived primary cultured neurospheres	brain
14	chr1:151022800-151029600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr1:151022800-151029600	Strong transcription	HUES48 Cell Line	embryonic stem cell
16	chr1:151023000-151028200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
17	chr1:151023000-151028600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr1:151023200-151028200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr1:151023200-151028200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr1:151023200-151028600	Strong transcription	HSMMtube	muscle
21	chr1:151023200-151029600	Strong transcription	HUES64 Cell Line	embryonic stem cell
22	chr1:151023400-151028200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr1:151023400-151029200	Strong transcription	Fetal Brain Female	brain
24	chr1:151023600-151028200	Strong transcription	Brain Inferior Temporal Lobe	brain
25	chr1:151023600-151028200	Strong transcription	Rectal Smooth Muscle	rectum
26	chr1:151023600-151028200	Strong transcription	Dnd41	blood
27	chr1:151023600-151028600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr1:151023800-151028600	Strong transcription	NHLF	lung
29	chr1:151023800-151029000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
30	chr1:151024000-151028200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr1:151024000-151028200	Strong transcription	Duodenum Smooth Muscle	Duodenum
32	chr1:151024000-151028200	Strong transcription	Gastric	stomach
33	chr1:151024000-151028600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr1:151024000-151028600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr1:151024000-151028600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr1:151024000-151028600	Strong transcription	Brain Hippocampus Middle	brain
37	chr1:151024000-151028600	Strong transcription	Fetal Stomach	stomach
38	chr1:151024000-151028800	Strong transcription	Brain Cingulate Gyrus	brain
39	chr1:151024000-151029000	Strong transcription	Fetal Lung	lung
40	chr1:151024200-151028600	Strong transcription	Brain Anterior Caudate	brain
41	chr1:151024200-151029200	Strong transcription	Brain Angular Gyrus	brain
42	chr1:151024200-151029400	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr1:151024200-151030000	Strong transcription	ES-I3 Cell Line	embryonic stem cell
44	chr1:151024200-151030200	Strong transcription	H9 Cell Line	embryonic stem cell
45	chr1:151024400-151028200	Strong transcription	A549	lung
46	chr1:151024400-151028800	Strong transcription	Brain Germinal Matrix	brain
47	chr1:151024400-151029000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr1:151024400-151029200	Strong transcription	H1 Cell Line	embryonic stem cell
49	chr1:151024400-151029400	Strong transcription	Aorta	Aorta
50	chr1:151024600-151028600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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