Variant report

Variant	rs72696231
Chromosome Location	chr1:154151506-154151507
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:13 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EBF1	chr1:154151466-154151920	GM12878	blood:	n/a	chr1:154151687-154151698
2	POLR2A	chr1:154150348-154151930	K562	blood:	n/a	n/a
3	MXI1	chr1:154151476-154151789	K562	blood:	n/a	n/a
4	WRNIP1	chr1:154150635-154152055	GM12878	blood:	n/a	n/a
5	FOXA1	chr1:154151453-154151949	HepG2	liver:	n/a	n/a
6	GATA1	chr1:154151356-154152011	PBDE	blood:	n/a	n/a
7	POLR2A	chr1:154151286-154151526	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr1:154150303-154151881	PFSK-1	brain:	n/a	n/a
9	POLR2A	chr1:154150328-154151967	A549	lung:	n/a	n/a
10	GATA3	chr1:154151453-154151640	SH-SY5Y	brain:	n/a	n/a
11	GATA2	chr1:154151432-154151672	SH-SY5Y	brain:	n/a	n/a
12	POLR2A	chr1:154150022-154152203	GM12878	blood:	n/a	n/a
13	POLR2A	chr1:154151211-154151641	Hela-S3	cervix:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:153962189..153967020-chr1:154149779..154153923,7	MCF-7	breast:
2	chr1:154130046..154131854-chr1:154151201..154154094,2	K562	blood:
3	chr1:154145134..154153289-chr1:154153487..154160631,22	K562	blood:
4	chr1:154151092..154152714-chr1:154192379..154194732,2	MCF-7	breast:
5	chr1:153961881..153966027-chr1:154151379..154156773,10	MCF-7	breast:
6	chr1:154142747..154146273-chr1:154146772..154152940,5	K562	blood:
7	chr1:153961855..153964878-chr1:154149314..154153044,5	K562	blood:
8	chr1:154151312..154154033-chr1:154243382..154245997,2	K562	blood:
9	chr1:154149113..154161877-chr1:154185436..154196776,24	K562	blood:
10	chr1:154150174..154152704-chr1:154242243..154245750,3	MCF-7	breast:

No data

Variant related genes	Relation type
TPM3	TF binding region
ENSG00000143549	Chromatin interaction
ENSG00000143575	Chromatin interaction
ENSG00000143569	Chromatin interaction
ENSG00000177954	Chromatin interaction
ENSG00000143612	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1488085	1.00[AFR][1000 genomes]
rs16835819	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16835877	1.00[AFR][1000 genomes]
rs34806329	1.00[AFR][1000 genomes]
rs55680156	1.00[AFR][1000 genomes]
rs72696240	1.00[AFR][1000 genomes]
rs72696254	1.00[AFR][1000 genomes]
rs72696264	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999364	chr1:153622634-154419436	Strong transcription Genic enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	286 gene(s)	inside rSNPs	diseases
2	nsv535175	chr1:153622634-154419436	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	286 gene(s)	inside rSNPs	diseases
3	nsv532551	chr1:153732039-154192279	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	233 gene(s)	inside rSNPs	diseases
4	esv1830240	chr1:153885261-154370938	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription 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	239 gene(s)	inside rSNPs	diseases
5	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
6	nsv1000402	chr1:153991106-154527053	Strong transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	106 gene(s)	inside rSNPs	diseases
7	nsv1000153	chr1:154074249-154152417	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:154142400-154152000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:154143800-154153600	Genic enhancers	Skeletal Muscle Male	skeletal muscle
3	chr1:154144200-154154400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr1:154145800-154153400	Weak transcription	Fetal Kidney	kidney
5	chr1:154147200-154152400	Genic enhancers	Primary B cells from peripheral blood	blood
6	chr1:154147800-154152400	Genic enhancers	Primary monocytes fromperipheralblood	blood
7	chr1:154148200-154153800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr1:154148400-154152400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr1:154148400-154152800	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr1:154148400-154152800	Genic enhancers	Fetal Thymus	thymus
11	chr1:154148400-154153000	Genic enhancers	Fetal Muscle Leg	muscle
12	chr1:154148600-154152400	Enhancers	Gastric	stomach
13	chr1:154148600-154152600	Enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr1:154148600-154152600	Enhancers	Stomach Mucosa	stomach
15	chr1:154148600-154152800	Genic enhancers	HMEC	breast
16	chr1:154148600-154154400	Enhancers	Brain Angular Gyrus	brain
17	chr1:154148600-154155000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr1:154148800-154151600	Enhancers	Adipose Nuclei	Adipose
19	chr1:154148800-154151800	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr1:154148800-154151800	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr1:154148800-154152000	Enhancers	Rectal Mucosa Donor 31	rectum
22	chr1:154148800-154152400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
23	chr1:154148800-154153200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr1:154148800-154154400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
25	chr1:154149000-154153400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr1:154149200-154153400	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr1:154149400-154154400	Enhancers	Spleen	Spleen
28	chr1:154149600-154151600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr1:154149600-154151800	Enhancers	Brain Cingulate Gyrus	brain
30	chr1:154149600-154151800	Genic enhancers	Sigmoid Colon	Sigmoid Colon
31	chr1:154149600-154152600	Enhancers	Placenta	Placenta
32	chr1:154149600-154152600	Genic enhancers	A549	lung
33	chr1:154149600-154153000	Strong transcription	Fetal Muscle Trunk	muscle
34	chr1:154149600-154153200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr1:154149600-154153800	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
36	chr1:154149800-154152000	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
37	chr1:154149800-154152600	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr1:154149800-154152600	Genic enhancers	Thymus	Thymus
39	chr1:154149800-154153200	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr1:154149800-154154600	Enhancers	Fetal Heart	heart
41	chr1:154150000-154151600	Flanking Active TSS	Primary hematopoietic stem cells	blood
42	chr1:154150000-154152000	Enhancers	Right Ventricle	heart
43	chr1:154150000-154152200	Genic enhancers	Left Ventricle	heart
44	chr1:154150000-154152400	Genic enhancers	H1 Cell Line	embryonic stem cell
45	chr1:154150000-154153000	Enhancers	Right Atrium	heart
46	chr1:154150000-154153000	Transcr. at gene 5' and 3'	K562	blood
47	chr1:154150000-154153200	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr1:154150000-154153600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr1:154150000-154153600	Transcr. at gene 5' and 3'	HUVEC	blood vessel
50	chr1:154150000-154153800	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood

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