Variant report

Variant	rs74125062
Chromosome Location	chr1:151027353-151027354
allele	C/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:3)
LncRNA
region (count:0)
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	chr1:151019747-151029675	K562	blood:	n/a	n/a
2	TAL1	chr1:151027279-151028190	K562	blood:	n/a	n/a
3	POLR2A	chr1:151027303-151028204	K562	blood:	n/a	n/a
4	POLR2A	chr1:151023510-151029710	K562	blood:	n/a	n/a
5	TEAD4	chr1:151027186-151028128	K562	blood:	n/a	n/a
6	EP300	chr1:151027281-151028100	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	USF1	chr1:151027303-151027753	K562	blood:	n/a	n/a
10	RCOR1	chr1:151027312-151028075	K562	blood:	n/a	n/a
11	STAT5A	chr1:151027322-151028035	K562	blood:	n/a	n/a
12	POLR2A	chr1:151027353-151029436	K562	blood:	n/a	n/a
13	POLR2A	chr1:151026611-151028365	K562	blood:	n/a	n/a
14	IRF1	chr1:151027302-151028042	K562	blood:	n/a	n/a
15	POLR2A	chr1:151021903-151029745	GM12878	blood:	n/a	n/a
16	CUX1	chr1:151027192-151028246	K562	blood:	n/a	n/a
17	RCOR1	chr1:151027322-151028168	K562	blood:	n/a	n/a
18	TEAD4	chr1:151027217-151027874	K562	blood:	n/a	n/a
19	EP300	chr1:151027304-151028055	K562	blood:	n/a	n/a
20	POLR2A	chr1:151027220-151029690	K562	blood:	n/a	n/a
21	TRIM28	chr1:151027327-151028133	K562	blood:	n/a	n/a
22	GATA2	chr1:151027291-151027813	K562	blood:	n/a	n/a
23	CBX3	chr1:151027250-151028103	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	ARID3A	chr1:151027277-151027919	K562	blood:	n/a	n/a
27	MAZ	chr1:151027284-151027846	K562	blood:	n/a	n/a
28	PML	chr1:151027256-151028067	K562	blood:	n/a	n/a
29	POLR2A	chr1:151027138-151029730	GM12878	blood:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:151005028..151012583-chr1:151026392..151034442,13	K562	blood:
2	chr1:151027302..151028913-chr1:151103376..151105048,2	MCF-7	breast:
3	chr1:150976723..150987587-chr1:151024685..151036322,24	MCF-7	breast:

No data

Variant related genes	Relation type
MLLT11	TF binding region
ENSG00000163141	Chromatin interaction
ENSG00000143409	Chromatin interaction
ENSG00000261168	Chromatin interaction
ENSG00000143363	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]
rs74125063	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:126 , 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	chr1:151021400-151028000	Weak transcription	Psoas Muscle	Psoas
3	chr1:151021400-151029000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr1:151021400-151030000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr1:151022000-151030000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:151022400-151027600	Strong transcription	Fetal Thymus	thymus
7	chr1:151022400-151027600	Strong transcription	GM12878-XiMat	blood
8	chr1:151022400-151028000	Strong transcription	Osteobl	bone
9	chr1:151022400-151028600	Strong transcription	Muscle Satellite Cultured Cells	--
10	chr1:151022400-151029000	Strong transcription	NH-A	brain
11	chr1:151022400-151029200	Strong transcription	Fetal Muscle Trunk	muscle
12	chr1:151022400-151029200	Strong transcription	NHDF-Ad	bronchial
13	chr1:151022400-151029400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
14	chr1:151022600-151028000	Strong transcription	Primary hematopoietic stem cells	blood
15	chr1:151022600-151028000	Strong transcription	Brain Substantia Nigra	brain
16	chr1:151022600-151028200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr1:151022600-151028600	Strong transcription	HSMM	muscle
18	chr1:151022600-151029200	Strong transcription	HUES6 Cell Line	embryonic stem cell
19	chr1:151022800-151027800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr1:151022800-151027800	Strong transcription	Skeletal Muscle Female	skeletal muscle
21	chr1:151022800-151028000	Strong transcription	Fetal Muscle Leg	muscle
22	chr1:151022800-151029400	Strong transcription	Cortex derived primary cultured neurospheres	brain
23	chr1:151022800-151029600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr1:151022800-151029600	Strong transcription	HUES48 Cell Line	embryonic stem cell
25	chr1:151023000-151027600	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr1:151023000-151027600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr1:151023000-151027800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr1:151023000-151027800	Strong transcription	Adipose Nuclei	Adipose
29	chr1:151023000-151027800	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr1:151023000-151027800	Strong transcription	Stomach Smooth Muscle	stomach
31	chr1:151023000-151028000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
32	chr1:151023000-151028200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr1:151023000-151028600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr1:151023200-151027400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr1:151023200-151027400	Strong transcription	Placenta	Placenta
36	chr1:151023200-151027800	Strong transcription	Liver	Liver
37	chr1:151023200-151028200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr1:151023200-151028200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr1:151023200-151028600	Strong transcription	HSMMtube	muscle
40	chr1:151023200-151029600	Strong transcription	HUES64 Cell Line	embryonic stem cell
41	chr1:151023400-151028200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr1:151023400-151029200	Strong transcription	Fetal Brain Female	brain
43	chr1:151023600-151027600	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
44	chr1:151023600-151027600	Strong transcription	Duodenum Mucosa	Duodenum
45	chr1:151023600-151028200	Strong transcription	Brain Inferior Temporal Lobe	brain
46	chr1:151023600-151028200	Strong transcription	Rectal Smooth Muscle	rectum
47	chr1:151023600-151028200	Strong transcription	Dnd41	blood
48	chr1:151023600-151028600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr1:151023800-151027400	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
50	chr1:151023800-151028600	Strong transcription	NHLF	lung

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