Variant report

Variant	rs72714914
Chromosome Location	chr1:161125072-161125073
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RCOR1	chr1:161124993-161125151	K562	blood:	n/a	n/a
2	POLR2A	chr1:161124975-161125158	K562	blood:	n/a	n/a
3	BACH1	chr1:161124926-161125126	K562	blood:	n/a	n/a
4	POLR2A	chr1:161124841-161125072	GM12878	blood:	n/a	n/a
5	CUX1	chr1:161124831-161125114	K562	blood:	n/a	n/a
6	ELK1	chr1:161125028-161125198	Hela-S3	cervix:	n/a	n/a
7	NRF1	chr1:161125018-161125253	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr1:161101013..161103871-chr1:161121699..161125704,9	K562	blood:
2	chr1:161100611..161104525-chr1:161121984..161125219,4	MCF-7	breast:
3	chr1:161086296..161092108-chr1:161121562..161126818,7	MCF-7	breast:
4	chr1:161122555..161125252-chr1:161276427..161278072,2	K562	blood:
5	chr1:161123124..161125693-chr1:161172039..161174239,2	K562	blood:
6	chr1:161087163..161090619-chr1:161122364..161125281,6	K562	blood:
7	chr1:161124455..161125079-chr17:56664764..56665602,2	MCF-7	breast:
8	chr1:161006846..161009787-chr1:161123441..161125743,2	MCF-7	breast:
9	chr1:161117574..161120298-chr1:161123992..161125741,2	MCF-7	breast:
10	chr1:161107047..161112354-chr1:161123158..161127240,7	K562	blood:
11	chr1:161100609..161105995-chr1:161120333..161125390,9	MCF-7	breast:
12	chr1:161085470..161090358-chr1:161122527..161126800,7	K562	blood:
13	chr1:161124193..161126969-chr1:161172467..161175682,3	K562	blood:

No data

Variant related genes	Relation type
USP21	TF binding region
ENSG00000158796	Chromatin interaction
ENSG00000158864	Chromatin interaction
ENSG00000158793	Chromatin interaction
ENSG00000158887	Chromatin interaction
ENSG00000270149	Chromatin interaction
ENSG00000215845	Chromatin interaction
ENSG00000143256	Chromatin interaction
ENSG00000238934	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11588018	1.00[AFR][1000 genomes]
rs72714915	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530077	chr1:160836448-161284904	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 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	chr1:161122800-161125200	Active TSS	Rectal Mucosa Donor 29	rectum
2	chr1:161123000-161125200	Active TSS	Rectal Smooth Muscle	rectum
3	chr1:161123400-161125200	Active TSS	Pancreas	Pancrea
4	chr1:161124000-161125200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr1:161124200-161125200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
6	chr1:161124200-161125200	Flanking Active TSS	Dnd41	blood
7	chr1:161124200-161125400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr1:161124200-161128600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr1:161124400-161125200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
10	chr1:161124400-161125200	Enhancers	Fetal Heart	heart
11	chr1:161124400-161125200	Enhancers	Spleen	Spleen
12	chr1:161124400-161125400	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr1:161124400-161126600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr1:161124400-161127800	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr1:161124400-161128600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr1:161124400-161128600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr1:161124400-161128600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr1:161124400-161128800	Weak transcription	Ovary	ovary
19	chr1:161124400-161129000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr1:161124400-161129000	Weak transcription	Aorta	Aorta
21	chr1:161124600-161125200	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr1:161124600-161125200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr1:161124600-161125200	Enhancers	Adipose Nuclei	Adipose
24	chr1:161124600-161125200	Enhancers	Brain Angular Gyrus	brain
25	chr1:161124600-161125200	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr1:161124600-161125200	Enhancers	HUVEC	blood vessel
27	chr1:161124600-161125400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr1:161124600-161125400	Enhancers	Brain Inferior Temporal Lobe	brain
29	chr1:161124600-161125400	Flanking Active TSS	Stomach Mucosa	stomach
30	chr1:161124600-161125600	Flanking Active TSS	GM12878-XiMat	blood
31	chr1:161124600-161125800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
32	chr1:161124600-161126400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr1:161124600-161126600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr1:161124600-161126600	Weak transcription	Fetal Muscle Trunk	muscle
35	chr1:161124600-161126600	Weak transcription	Left Ventricle	heart
36	chr1:161124600-161126800	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr1:161124600-161126800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr1:161124600-161126800	Weak transcription	Liver	Liver
39	chr1:161124600-161126800	Weak transcription	Esophagus	oesophagus
40	chr1:161124600-161126800	Weak transcription	Gastric	stomach
41	chr1:161124600-161126800	Weak transcription	Right Ventricle	heart
42	chr1:161124600-161127800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr1:161124600-161128400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr1:161124600-161128600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr1:161124600-161128600	Weak transcription	Fetal Brain Female	brain
46	chr1:161124600-161128600	Weak transcription	Lung	lung
47	chr1:161124800-161125200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr1:161124800-161125200	Enhancers	Primary B cells from peripheral blood	blood
49	chr1:161124800-161125200	Enhancers	Primary T cells fromperipheralblood	blood
50	chr1:161124800-161125200	Enhancers	Primary T regulatory cells fromperipheralblood	blood

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