Variant report

Variant	rs72718913
Chromosome Location	chr1:173020270-173020271
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	REST	chr1:173020087-173020388	PFSK-1	brain:	n/a	n/a
2	MAX	chr1:173019970-173020467	Hela-S3	cervix:	n/a	n/a
3	RAD21	chr1:173019994-173020369	Hela-S3	cervix:	n/a	n/a
4	FOS	chr1:173019968-173020422	MCF10A-Er-Src	breast:	n/a	n/a
5	CEBPB	chr1:173019801-173020275	Hela-S3	cervix:	n/a	n/a
6	STAT3	chr1:173020070-173020387	MCF10A-Er-Src	breast:	n/a	n/a
7	FOS	chr1:173019988-173020395	MCF10A-Er-Src	breast:	n/a	n/a
8	STAT3	chr1:173020016-173020390	MCF10A-Er-Src	breast:	n/a	n/a
9	TBP	chr1:173020002-173020314	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr1:173019699-173020557	HUVEC	blood vessel:	n/a	n/a
11	EP300	chr1:173019947-173020381	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr1:173019809-173020316	HUVEC	blood vessel:	n/a	n/a
13	FOS	chr1:173020057-173020390	MCF10A-Er-Src	breast:	n/a	n/a
14	POLR2A	chr1:173019980-173020379	MCF10A-Er-Src	breast:	n/a	n/a
15	MAFK	chr1:173020041-173020342	Hela-S3	cervix:	n/a	chr1:173020189-173020200 chr1:173020187-173020201 chr1:173020188-173020199 chr1:173020189-173020200
16	STAT3	chr1:173019904-173020368	MCF10A-Er-Src	breast:	n/a	n/a
17	SIN3AK20	chr1:173020025-173020320	PFSK-1	brain:	n/a	n/a
18	SMC3	chr1:173020024-173020365	Hela-S3	cervix:	n/a	n/a
19	GATA2	chr1:173019966-173020487	HUVEC	blood vessel:	n/a	chr1:173020410-173020417 chr1:173020403-173020424 chr1:173020410-173020417 chr1:173020405-173020421 chr1:173020410-173020417 chr1:173020405-173020421
20	MYC	chr1:173020054-173020514	MCF10A-Er-Src	breast:	n/a	n/a
21	NFIC	chr1:173019856-173020534	SK-N-SH	brain:	n/a	n/a
22	MYC	chr1:173019750-173020514	MCF10A-Er-Src	breast:	n/a	n/a
23	POLR2A	chr1:173019857-173020344	HUVEC	blood vessel:	n/a	n/a
24	STAT3	chr1:173019996-173020485	Hela-S3	cervix:	n/a	n/a

Variant related genes	Relation type
TNFSF18	TF binding region

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11576111	0.84[EUR][1000 genomes]
rs11590691	0.84[EUR][1000 genomes]
rs72718907	0.89[EUR][1000 genomes]
rs72718914	0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831904	chr1:172912110-173070429	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv533953	chr1:172939335-173133255	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:173017200-173020600	Flanking Active TSS	HUVEC	blood vessel
2	chr1:173017400-173020400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr1:173018400-173021600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr1:173019600-173021600	Enhancers	NHEK	skin
5	chr1:173019600-173022200	Enhancers	Duodenum Smooth Muscle	Duodenum
6	chr1:173019600-173022600	Enhancers	HMEC	breast
7	chr1:173019800-173020400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr1:173019800-173020400	Enhancers	Brain Germinal Matrix	brain
9	chr1:173019800-173020600	Enhancers	NH-A	brain
10	chr1:173019800-173020800	Enhancers	Muscle Satellite Cultured Cells	--
11	chr1:173019800-173021000	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr1:173019800-173021000	Enhancers	Monocytes-CD14+_RO01746	blood
13	chr1:173019800-173021200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr1:173019800-173021800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr1:173019800-173022000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr1:173019800-173022600	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr1:173019800-173022600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr1:173019800-173022600	Enhancers	Hela-S3	cervix
19	chr1:173020000-173020400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr1:173020000-173020600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr1:173020000-173020600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr1:173020000-173020600	Enhancers	HSMM	muscle
23	chr1:173020000-173020600	Enhancers	Osteobl	bone
24	chr1:173020000-173020800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr1:173020000-173021200	Enhancers	NHLF	lung
26	chr1:173020000-173022400	Enhancers	Liver	Liver
27	chr1:173020000-173022600	Enhancers	Stomach Mucosa	stomach
28	chr1:173020000-173023200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr1:173020200-173020400	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr1:173020200-173020400	Enhancers	GM12878-XiMat	blood
31	chr1:173020200-173020600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr1:173020200-173021000	Enhancers	Rectal Mucosa Donor 31	rectum
33	chr1:173020200-173021200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr1:173020200-173021400	Weak transcription	A549	lung
35	chr1:173020200-173022200	Enhancers	Adipose Nuclei	Adipose
36	chr1:173020200-173022200	Enhancers	Fetal Lung	lung

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