Variant report

Variant	rs72997365
Chromosome Location	chr1:154949515-154949516
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:154949477..154951157-chr1:155056165..155059082,2	K562	blood:
2	chr1:154573844..154576580-chr1:154947411..154949636,2	K562	blood:
3	chr1:154948517..154951842-chr1:155034906..155036770,3	MCF-7	breast:
4	chr1:154947156..154950628-chr1:155023259..155025337,3	MCF-7	breast:
5	chr1:11968639..11970236-chr1:154947682..154949521,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SHC1-1	chr1:154949294-154949590	NONHSAT006659

No data

Variant related genes	Relation type
ENSG00000201801	Chromatin interaction
ENSG00000160710	Chromatin interaction
ENSG00000143590	Chromatin interaction
ENSG00000143537	Chromatin interaction
ENSG00000251246	Chromatin interaction
ENSG00000243364	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs2361537	1.00[AMR][1000 genomes]
rs61756357	1.00[AMR][1000 genomes]
rs72995422	1.00[AMR][1000 genomes]
rs72995425	1.00[AMR][1000 genomes]
rs72997354	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72997360	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72997362	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73009451	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv872453	chr1:154904840-154995503	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	147 gene(s)	inside rSNPs	diseases
3	nsv872454	chr1:154904840-155079477	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:154945800-154949600	Active TSS	H1 Cell Line	embryonic stem cell
2	chr1:154947600-154949600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr1:154948200-154955000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr1:154948400-154955400	Weak transcription	Gastric	stomach
5	chr1:154948400-154955800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr1:154948600-154950400	Transcr. at gene 5' and 3'	K562	blood
7	chr1:154948600-154955000	Weak transcription	Brain Angular Gyrus	brain
8	chr1:154948600-154955800	Weak transcription	Small Intestine	intestine
9	chr1:154948800-154949600	Enhancers	Primary B cells from peripheral blood	blood
10	chr1:154948800-154949600	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr1:154948800-154949600	Enhancers	Fetal Heart	heart
12	chr1:154948800-154949600	Transcr. at gene 5' and 3'	A549	lung
13	chr1:154948800-154950200	Weak transcription	Fetal Muscle Trunk	muscle
14	chr1:154948800-154950200	Flanking Active TSS	GM12878-XiMat	blood
15	chr1:154948800-154952000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr1:154948800-154952000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr1:154948800-154954800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr1:154948800-154954800	Weak transcription	Psoas Muscle	Psoas
19	chr1:154948800-154954800	Weak transcription	Rectal Smooth Muscle	rectum
20	chr1:154948800-154954800	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr1:154948800-154955000	Weak transcription	Brain Cingulate Gyrus	brain
22	chr1:154948800-154955000	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr1:154948800-154955000	Weak transcription	Left Ventricle	heart
24	chr1:154948800-154955200	Weak transcription	HSMMtube	muscle
25	chr1:154948800-154955800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr1:154948800-154955800	Weak transcription	Spleen	Spleen
27	chr1:154949000-154949600	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr1:154949000-154949600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
29	chr1:154949000-154949600	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr1:154949000-154949600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
31	chr1:154949000-154950000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr1:154949000-154950200	Weak transcription	Fetal Muscle Leg	muscle
33	chr1:154949000-154950400	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr1:154949000-154951000	Weak transcription	Pancreas	Pancrea
35	chr1:154949000-154951800	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr1:154949000-154954400	Weak transcription	Thymus	Thymus
37	chr1:154949000-154954800	Weak transcription	Fetal Brain Male	brain
38	chr1:154949000-154954800	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr1:154949000-154955000	Weak transcription	Primary T cells from cord blood	blood
40	chr1:154949000-154955000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr1:154949000-154955000	Weak transcription	Brain Anterior Caudate	brain
42	chr1:154949000-154955000	Weak transcription	Placenta	Placenta
43	chr1:154949000-154955000	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr1:154949000-154955000	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr1:154949000-154955000	Weak transcription	Stomach Smooth Muscle	stomach
46	chr1:154949000-154955400	Weak transcription	Aorta	Aorta
47	chr1:154949200-154949600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr1:154949200-154949600	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr1:154949200-154949600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr1:154949200-154949600	Enhancers	Fetal Lung	lung

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