Variant report

Variant	rs74125059
Chromosome Location	chr1:151024535-151024536
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:150995615..151002939-chr1:151018225..151024612,15	MCF-7	breast:
2	chr1:151023633..151025803-chr1:151140394..151141946,2	MCF-7	breast:
3	chr1:150988741..150990309-chr1:151021860..151024811,2	MCF-7	breast:
4	chr1:151023693..151025920-chr1:151138332..151139840,2	K562	blood:
5	chr1:150977593..150980039-chr1:151024223..151025813,3	K562	blood:
6	chr1:151022097..151024795-chr1:151070842..151073434,2	K562	blood:

Variant related genes	Relation type
ENSG00000163155	Chromatin interaction
ENSG00000163156	Chromatin interaction
ENSG00000143363	Chromatin interaction
ENSG00000143409	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]
rs74125062	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	chr1:151021400-151024800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:151021400-151025600	Weak transcription	Small Intestine	intestine
4	chr1:151021400-151028000	Weak transcription	Psoas Muscle	Psoas
5	chr1:151021400-151029000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr1:151021400-151030000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr1:151021600-151024600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr1:151021600-151024800	Weak transcription	HUVEC	blood vessel
9	chr1:151022000-151026800	Genic enhancers	K562	blood
10	chr1:151022000-151030000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:151022400-151026600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr1:151022400-151027600	Strong transcription	Fetal Thymus	thymus
13	chr1:151022400-151027600	Strong transcription	GM12878-XiMat	blood
14	chr1:151022400-151028000	Strong transcription	Osteobl	bone
15	chr1:151022400-151028600	Strong transcription	Muscle Satellite Cultured Cells	--
16	chr1:151022400-151029000	Strong transcription	NH-A	brain
17	chr1:151022400-151029200	Strong transcription	Fetal Muscle Trunk	muscle
18	chr1:151022400-151029200	Strong transcription	NHDF-Ad	bronchial
19	chr1:151022400-151029400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
20	chr1:151022600-151025200	Strong transcription	Primary B cells from cord blood	blood
21	chr1:151022600-151025200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr1:151022600-151027000	Strong transcription	HMEC	breast
23	chr1:151022600-151028000	Strong transcription	Primary hematopoietic stem cells	blood
24	chr1:151022600-151028000	Strong transcription	Brain Substantia Nigra	brain
25	chr1:151022600-151028200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr1:151022600-151028600	Strong transcription	HSMM	muscle
27	chr1:151022600-151029200	Strong transcription	HUES6 Cell Line	embryonic stem cell
28	chr1:151022800-151027200	Strong transcription	Primary neutrophils fromperipheralblood	blood
29	chr1:151022800-151027800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr1:151022800-151027800	Strong transcription	Skeletal Muscle Female	skeletal muscle
31	chr1:151022800-151028000	Strong transcription	Fetal Muscle Leg	muscle
32	chr1:151022800-151029400	Strong transcription	Cortex derived primary cultured neurospheres	brain
33	chr1:151022800-151029600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr1:151022800-151029600	Strong transcription	HUES48 Cell Line	embryonic stem cell
35	chr1:151023000-151026400	Strong transcription	NHEK	skin
36	chr1:151023000-151026600	Weak transcription	Fetal Brain Male	brain
37	chr1:151023000-151026800	Weak transcription	Fetal Heart	heart
38	chr1:151023000-151027600	Strong transcription	Primary monocytes fromperipheralblood	blood
39	chr1:151023000-151027600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr1:151023000-151027800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr1:151023000-151027800	Strong transcription	Adipose Nuclei	Adipose
42	chr1:151023000-151027800	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr1:151023000-151027800	Strong transcription	Stomach Smooth Muscle	stomach
44	chr1:151023000-151028000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
45	chr1:151023000-151028200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
46	chr1:151023000-151028600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr1:151023200-151027200	Genic enhancers	Primary T helper cells fromperipheralblood	blood
48	chr1:151023200-151027400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr1:151023200-151027400	Strong transcription	Placenta	Placenta
50	chr1:151023200-151027800	Strong transcription	Liver	Liver

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