Variant report

Variant	rs60599596
Chromosome Location	chr1:154782100-154782101
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:154775266..154779197-chr1:154780006..154783599,4	K562	blood:
2	chr1:154781476..154783319-chr1:154818716..154820251,2	K562	blood:
3	chr1:154780124..154782287-chr1:154785126..154787392,2	K562	blood:
4	chr1:154765367..154767444-chr1:154779834..154782157,2	MCF-7	breast:
5	chr1:154776317..154778555-chr1:154779828..154783662,3	MCF-7	breast:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12119516	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17663177	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17719419	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs58874821	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7417027	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7512194	0.83[AMR][1000 genomes];1.00[EUR][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	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
2	nsv532579	chr1:154548165-155262692	Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	575 gene(s)	inside rSNPs	diseases
3	nsv427797	chr1:154559115-154933717	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	nsv470740	chr1:154568683-154796895	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv464050	chr1:154568683-154801247	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv547958	chr1:154568683-154801247	Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:154764800-154782600	Weak transcription	Rectal Smooth Muscle	rectum
2	chr1:154776800-154786000	Weak transcription	Fetal Brain Female	brain
3	chr1:154777600-154783200	Enhancers	Brain Anterior Caudate	brain
4	chr1:154778400-154783800	Enhancers	Fetal Thymus	thymus
5	chr1:154778600-154782200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr1:154778600-154783200	Enhancers	HSMMtube	muscle
7	chr1:154779000-154782200	Weak transcription	Colon Smooth Muscle	Colon
8	chr1:154779000-154785800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr1:154779800-154782200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr1:154779800-154782200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr1:154779800-154782400	Weak transcription	Primary hematopoietic stem cells	blood
12	chr1:154779800-154786000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr1:154780000-154782200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr1:154780000-154782200	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr1:154780200-154782600	Genic enhancers	GM12878-XiMat	blood
16	chr1:154780200-154784200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr1:154780800-154782200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
18	chr1:154780800-154783400	Enhancers	Stomach Smooth Muscle	stomach
19	chr1:154780800-154783400	Enhancers	HSMM	muscle
20	chr1:154780800-154785400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr1:154780800-154786800	Weak transcription	Brain Substantia Nigra	brain
22	chr1:154781000-154782400	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr1:154781000-154785200	Weak transcription	Brain Cingulate Gyrus	brain
24	chr1:154781000-154785800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr1:154781200-154782400	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
26	chr1:154781200-154782400	Weak transcription	Esophagus	oesophagus
27	chr1:154781200-154783000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr1:154781200-154783200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr1:154781200-154783400	Enhancers	Thymus	Thymus
30	chr1:154781200-154784200	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr1:154781200-154784600	Enhancers	Fetal Muscle Leg	muscle
32	chr1:154781200-154785200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr1:154781400-154782200	Weak transcription	Fetal Stomach	stomach
34	chr1:154781400-154782400	Weak transcription	Stomach Mucosa	stomach
35	chr1:154781400-154785800	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr1:154781600-154783600	Enhancers	Fetal Muscle Trunk	muscle
37	chr1:154781600-154784200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr1:154781600-154784400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr1:154781800-154782800	Weak transcription	Right Ventricle	heart
40	chr1:154781800-154784000	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr1:154781800-154785400	Weak transcription	Right Atrium	heart
42	chr1:154781800-154786000	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr1:154782000-154782200	Enhancers	Brain Hippocampus Middle	brain
44	chr1:154782000-154782400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr1:154782000-154782400	Weak transcription	Left Ventricle	heart
46	chr1:154782000-154782400	Weak transcription	Spleen	Spleen
47	chr1:154782000-154783200	Bivalent Enhancer	Placenta	Placenta
48	chr1:154782000-154783400	Enhancers	Cortex derived primary cultured neurospheres	brain
49	chr1:154782000-154786200	Weak transcription	Psoas Muscle	Psoas

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