Variant report

Variant	rs72671983
Chromosome Location	chr1:45142164-45142165
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:34)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:34 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr1:45142066-45143303	HCT-116	colon:	n/a	n/a
2	ATF2	chr1:45141982-45142640	GM12878	blood:	n/a	n/a
3	SPI1	chr1:45142080-45143071	HL-60	blood:	n/a	n/a
4	POLR2A	chr1:45142110-45142607	HL-60	blood:	n/a	n/a
5	BCLAF1	chr1:45141982-45143243	GM12878	blood:	n/a	n/a
6	NR2F2	chr1:45142125-45142616	K562	blood:	n/a	n/a
7	CBX3	chr1:45142115-45142585	K562	blood:	n/a	n/a
8	RCOR1	chr1:45141816-45143125	IMR90	lung:	n/a	n/a
9	MTA3	chr1:45141604-45143332	GM12878	blood:	n/a	n/a
10	CEBPB	chr1:45142085-45143635	HCT-116	colon:	n/a	chr1:45142961-45142972
11	SPI1	chr1:45142134-45142732	GM12891	blood:	n/a	n/a
12	BATF	chr1:45142163-45142518	GM12878	blood:	n/a	n/a
13	PML	chr1:45141971-45143233	GM12878	blood:	n/a	n/a
14	GATA2	chr1:45142149-45142553	HUVEC	blood vessel:	n/a	n/a
15	STAT3	chr1:45142074-45142445	MCF10A-Er-Src	breast:	n/a	n/a
16	FOXM1	chr1:45142074-45143262	GM12878	blood:	n/a	n/a
17	SPI1	chr1:45141817-45142712	GM12878	blood:	n/a	n/a
18	ELF1	chr1:45142140-45142523	K562	blood:	n/a	chr1:45142323-45142336
19	RCOR1	chr1:45142137-45142565	K562	blood:	n/a	n/a
20	POLR2A	chr1:45142158-45142521	SK-N-SH	brain:	n/a	n/a
21	TEAD4	chr1:45142044-45143234	K562	blood:	n/a	n/a
22	RUNX3	chr1:45142052-45143231	GM12878	blood:	n/a	n/a
23	SPI1	chr1:45142159-45142545	GM12891	blood:	n/a	n/a
24	FOS	chr1:45141962-45142499	HUVEC	blood vessel:	n/a	n/a
25	NR2F2	chr1:45142004-45142677	K562	blood:	n/a	n/a
26	RCOR1	chr1:45142150-45143109	K562	blood:	n/a	n/a
27	POLR2A	chr1:45142026-45142541	HCT-116	colon:	n/a	n/a
28	IKZF1	chr1:45141795-45143127	GM12878	blood:	n/a	n/a
29	PML	chr1:45142121-45142510	K562	blood:	n/a	n/a
30	NFIC	chr1:45141946-45143245	GM12878	blood:	n/a	n/a
31	POLR2A	chr1:45142024-45142543	HUVEC	blood vessel:	n/a	n/a
32	RUNX3	chr1:45142057-45143190	GM12878	blood:	n/a	n/a
33	ELF1	chr1:45142110-45142541	HepG2	liver:	n/a	chr1:45142323-45142336
34	SPI1	chr1:45142158-45142690	HL-60	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:45100964..45102855-chr1:45141535..45143464,3	K562	blood:
2	chr1:45140788..45143214-chr1:45143227..45145914,3	K562	blood:
3	chr1:45095169..45100377-chr1:45133934..45142864,15	K562	blood:
4	chr1:45141360..45143507-chr1:45193675..45195240,2	MCF-7	breast:
5	chr1:45140169..45143277-chr1:45195258..45198293,3	MCF-7	breast:
6	chr1:45141963..45146217-chr1:45184774..45188907,4	MCF-7	breast:
7	chr1:45105542..45109261-chr1:45139821..45142236,3	K562	blood:

No data

Variant related genes	Relation type
TMEM53	TF binding region
ENSG00000199377	Chromatin interaction
ENSG00000187147	Chromatin interaction
ENSG00000200169	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs166612	0.88[EUR][1000 genomes]
rs6698388	0.81[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	nsv533037	chr1:44361728-45333408	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	469 gene(s)	inside rSNPs	diseases
2	nsv1004861	chr1:44843654-45210176	Flanking Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	346 gene(s)	inside rSNPs	diseases
3	nsv534940	chr1:44843654-45210176	Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	346 gene(s)	inside rSNPs	diseases
4	nsv998476	chr1:45001278-45311757	Flanking Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	426 gene(s)	inside rSNPs	diseases
5	nsv534941	chr1:45001278-45311757	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	426 gene(s)	inside rSNPs	diseases
6	nsv1014894	chr1:45139123-45397943	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	414 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45140400-45143400	Enhancers	Small Intestine	intestine
2	chr1:45140600-45142200	Enhancers	Spleen	Spleen
3	chr1:45140600-45142600	Weak transcription	Gastric	stomach
4	chr1:45140600-45150200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr1:45140800-45142200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr1:45140800-45142600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr1:45140800-45143000	Enhancers	Primary B cells from peripheral blood	blood
8	chr1:45140800-45143000	Enhancers	Placenta	Placenta
9	chr1:45140800-45143000	Enhancers	Fetal Thymus	thymus
10	chr1:45140800-45143000	Enhancers	HUVEC	blood vessel
11	chr1:45140800-45143600	Enhancers	Fetal Intestine Large	intestine
12	chr1:45140800-45143600	Enhancers	Stomach Mucosa	stomach
13	chr1:45140800-45143800	Enhancers	Colonic Mucosa	Colon
14	chr1:45140800-45144000	Enhancers	Primary B cells from cord blood	blood
15	chr1:45140800-45145000	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr1:45140800-45146800	Weak transcription	Esophagus	oesophagus
17	chr1:45141000-45142200	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr1:45141000-45142200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr1:45141000-45142200	Weak transcription	Fetal Heart	heart
20	chr1:45141000-45142400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr1:45141000-45142400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr1:45141000-45142400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr1:45141000-45142400	Enhancers	HSMMtube	muscle
24	chr1:45141000-45142600	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr1:45141000-45142600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr1:45141000-45142600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr1:45141000-45143000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr1:45141000-45143400	Enhancers	Fetal Intestine Small	intestine
29	chr1:45141000-45143600	Enhancers	NHDF-Ad	bronchial
30	chr1:45141000-45143800	Enhancers	Primary hematopoietic stem cells	blood
31	chr1:45141000-45143800	Enhancers	Rectal Mucosa Donor 31	rectum
32	chr1:45141000-45144000	Enhancers	Duodenum Mucosa	Duodenum
33	chr1:45141000-45144400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr1:45141000-45144800	Enhancers	Primary neutrophils fromperipheralblood	blood
35	chr1:45141000-45144800	Enhancers	Liver	Liver
36	chr1:45141000-45144800	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr1:45141000-45145000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr1:45141000-45145200	Enhancers	Adipose Nuclei	Adipose
39	chr1:45141000-45146000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr1:45141000-45147000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr1:45141000-45147400	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr1:45141000-45154200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
43	chr1:45141000-45154800	Weak transcription	Ovary	ovary
44	chr1:45141200-45142200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr1:45141200-45142800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr1:45141200-45142800	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr1:45141200-45142800	Weak transcription	Brain Substantia Nigra	brain
48	chr1:45141200-45143000	Weak transcription	Fetal Stomach	stomach
49	chr1:45141200-45143000	Enhancers	Skeletal Muscle Male	skeletal muscle
50	chr1:45141200-45143400	Enhancers	Rectal Mucosa Donor 29	rectum

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