Variant report

Variant	rs73005493
Chromosome Location	chr1:154723360-154723361
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:154721999..154724952-chr1:154768870..154770453,2	MCF-7	breast:
2	chr1:154672946..154674462-chr1:154723185..154725531,2	MCF-7	breast:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1395561	1.00[AMR][1000 genomes]
rs16836381	1.00[AMR][1000 genomes]
rs55799808	1.00[AMR][1000 genomes]
rs6656385	1.00[AMR][1000 genomes]
rs6657775	1.00[AMR][1000 genomes]
rs6681539	1.00[AMR][1000 genomes]
rs6682049	1.00[AMR][1000 genomes]
rs6699247	1.00[AMR][1000 genomes]
rs6703251	1.00[AMR][1000 genomes]
rs73005428	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73005429	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73005497	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73007703	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74115892	1.00[AMR][1000 genomes]
rs74116261	1.00[AMR][1000 genomes]
rs74116267	1.00[AMR][1000 genomes]
rs74119104	1.00[AMR][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:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:154704800-154723800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr1:154715800-154725200	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr1:154717000-154732800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr1:154718000-154727600	Weak transcription	Psoas Muscle	Psoas
5	chr1:154720600-154724600	Enhancers	Fetal Muscle Leg	muscle
6	chr1:154720600-154731600	Weak transcription	Spleen	Spleen
7	chr1:154720800-154723800	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr1:154720800-154726000	Enhancers	Fetal Thymus	thymus
9	chr1:154720800-154728800	Weak transcription	Lung	lung
10	chr1:154721000-154723400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr1:154721000-154724600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:154721000-154725000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr1:154721200-154723800	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr1:154721400-154723600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr1:154721400-154723600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr1:154721400-154723800	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr1:154721400-154724000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr1:154721600-154723800	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr1:154721600-154728400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr1:154721800-154723600	Weak transcription	Thymus	Thymus
21	chr1:154721800-154723800	Weak transcription	Brain Hippocampus Middle	brain
22	chr1:154722000-154723600	Weak transcription	Colon Smooth Muscle	Colon
23	chr1:154722000-154724200	Weak transcription	Primary T cells from cord blood	blood
24	chr1:154722200-154723800	Weak transcription	Brain Anterior Caudate	brain
25	chr1:154722200-154724200	Enhancers	Fetal Muscle Trunk	muscle
26	chr1:154722400-154723400	Weak transcription	GM12878-XiMat	blood
27	chr1:154722400-154723400	Weak transcription	HSMM	muscle
28	chr1:154722400-154723600	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr1:154722400-154724000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr1:154722400-154724200	Enhancers	Skeletal Muscle Male	skeletal muscle
31	chr1:154722600-154723800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr1:154722800-154723600	Weak transcription	HSMMtube	muscle
33	chr1:154722800-154723800	Weak transcription	Brain Substantia Nigra	brain
34	chr1:154723000-154723400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr1:154723000-154723800	Weak transcription	Brain Germinal Matrix	brain
36	chr1:154723000-154723800	Enhancers	Monocytes-CD14+_RO01746	blood
37	chr1:154723000-154724600	Enhancers	Fetal Brain Female	brain
38	chr1:154723200-154723600	Genic enhancers	Fetal Stomach	stomach
39	chr1:154723200-154724200	Enhancers	Skeletal Muscle Female	skeletal muscle
40	chr1:154723200-154725000	Enhancers	Fetal Brain Male	brain
41	chr1:154723200-154725200	Enhancers	Primary monocytes fromperipheralblood	blood

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