Variant report

Variant	rs73327198
Chromosome Location	chr17:45285377-45285378
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EBF1	chr17:45285112-45285391	GM12878	blood:	n/a	chr17:45285243-45285254

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:45285328-45285378	A549	lung:	n/a
2	chr17:45285328-45285378	PrEC	prostate:	n/a
3	chr17:45285328-45285378	LNCaP	prostate:	n/a
4	chr17:45285328-45285378	K562	blood:	n/a
5	chr17:45285328-45285378	HRE	kidney:	n/a
6	chr17:45285328-45285378	HCM	heart:	n/a
7	chr17:45285328-45285378	NH-A	brain:	n/a
8	chr17:45285328-45285378	MCF10A-Er-Src	breast:	n/a
9	chr17:45285328-45285378	GM06990	blood:	n/a
10	chr17:45285328-45285378	PFSK-1	brain:	n/a
11	chr17:45285328-45285378	AoSMC	blood vessel:	n/a
12	chr17:45285328-45285378	AG09319	gingival:	n/a
13	chr17:45285328-45285378	HUVEC	blood vessel:	n/a
14	chr17:45285328-45285378	GM12891	blood:	n/a
15	chr17:45285328-45285378	HPAEpiC	pulmonary alveolar:	n/a
16	chr17:45285328-45285378	NHBE	bronchial:	n/a
17	chr17:45285328-45285378	HNPCEpiC	eye:	n/a
18	chr17:45285328-45285378	NT2-D1	testis:	n/a
19	chr17:45285328-45285378	Hepatocyte	liver:	n/a
20	chr17:45285328-45285378	HepG2	liver:	n/a
21	chr17:45285328-45285378	SK-N-SH	brain:	n/a
22	chr17:45285328-45285378	Hela-S3	cervix:	n/a
23	chr17:45285328-45285378	HIPEpiC	eye:	n/a
24	chr17:45285328-45285378	U87	brain:	n/a
25	chr17:45285328-45285378	SKMC	muscle:	n/a
26	chr17:45285328-45285378	HCF	heart:	n/a
27	chr17:45285328-45285378	AG04449	skin:	fetal
28	chr17:45285328-45285378	HEEpiC	esophagus:	n/a
29	chr17:45285328-45285378	HRCEpiC	kidney:	n/a
30	chr17:45285328-45285378	GM12892	blood:	n/a
31	chr17:45285328-45285378	GM19239	blood:	n/a
32	chr17:45285328-45285378	ovcar-3	ovarian:	n/a
33	chr17:45285328-45285378	H1-hESC	embryonic stem cell:	embryo
34	chr17:45285328-45285378	ECC-1	luminal epithelium:	n/a
35	chr17:45285328-45285378	HAEpiC	amniotic membrane:	n/a
36	chr17:45285328-45285378	CMK	blood:	n/a
37	chr17:45285328-45285378	HRPEpiC	eye:	n/a
38	chr17:45285328-45285378	MCF-7	breast:	n/a
39	chr17:45285328-45285378	HEK293	kidney:	embryo
40	chr17:45285328-45285378	SK-N-MC	brain:	n/a
41	chr17:45285328-45285378	HCT-116	colon:	n/a
42	chr17:45285328-45285378	HL-60	blood:	n/a
43	chr17:45285328-45285378	AG10803	skin:	n/a
44	chr17:45285328-45285378	ProgFib	skin:	n/a
45	chr17:45285328-45285378	GM12878	blood:	n/a
46	chr17:45285328-45285378	Jurkat	blood:	n/a
47	chr17:45285328-45285378	PANC-1	pancreas:	n/a
48	chr17:45285328-45285378	RPTEC	kidney:	n/a
49	chr17:45285328-45285378	BJ	skin:	n/a
50	chr17:45285328-45285378	SK-N-SH_RA	brain:	n/a

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:45264884..45268790-chr17:45285196..45288860,4	K562	blood:
2	chr17:45264174..45269379-chr17:45283146..45288200,6	K562	blood:

No data

Variant related genes	Relation type
MYL4	TF binding region
MYL4	CpG island
ENSG00000004897	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs11570469	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11869037	1.00[AFR][1000 genomes]
rs57661742	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58260762	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59764111	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60947665	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61255112	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61335303	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6504778	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7213590	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7217466	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7226301	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73314394	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73314397	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73314399	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73316005	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73316007	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73316010	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73316013	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73316024	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73316035	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73316039	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73316047	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73316050	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73316051	1.00[AFR][1000 genomes]
rs73317687	1.00[AMR][1000 genomes]
rs73319518	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73319525	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73319528	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73319530	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73319536	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73327177	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73327180	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73327183	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73327187	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73327190	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73327192	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73327197	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73329106	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73329111	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73329112	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8071472	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8078960	0.87[AFR][1000 genomes];1.00[AMR][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	nsv1062983	chr17:45030095-45789543	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45281000-45286000	Enhancers	Fetal Muscle Leg	muscle
2	chr17:45281000-45288400	Enhancers	Fetal Thymus	thymus
3	chr17:45282600-45286000	Enhancers	K562	blood
4	chr17:45282600-45287400	Weak transcription	Lung	lung
5	chr17:45282800-45285600	Weak transcription	Spleen	Spleen
6	chr17:45282800-45285800	Enhancers	Fetal Heart	heart
7	chr17:45283000-45285400	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr17:45283000-45285400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr17:45283000-45285600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr17:45283000-45285800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr17:45283000-45286200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr17:45283000-45287400	Weak transcription	Fetal Lung	lung
13	chr17:45283000-45289600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr17:45283200-45286000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr17:45283400-45285400	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr17:45283400-45285600	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr17:45283400-45285800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
18	chr17:45283400-45286000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr17:45283400-45286000	Weak transcription	Fetal Stomach	stomach
20	chr17:45283400-45286000	Weak transcription	Left Ventricle	heart
21	chr17:45283400-45286000	Weak transcription	Right Ventricle	heart
22	chr17:45283400-45286000	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr17:45283400-45287000	Enhancers	Primary B cells from cord blood	blood
24	chr17:45283400-45287000	Enhancers	Primary B cells from peripheral blood	blood
25	chr17:45283400-45287400	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr17:45283400-45287600	Weak transcription	Psoas Muscle	Psoas
27	chr17:45283400-45287800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr17:45283400-45288000	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr17:45283600-45286000	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr17:45283600-45286200	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr17:45283600-45286400	Weak transcription	Fetal Brain Male	brain
32	chr17:45283600-45286600	Enhancers	GM12878-XiMat	blood
33	chr17:45283600-45287800	Weak transcription	Osteobl	bone
34	chr17:45283800-45286000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr17:45283800-45286200	Weak transcription	NHDF-Ad	bronchial
36	chr17:45284000-45286000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr17:45284000-45286000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr17:45284200-45285800	Weak transcription	HSMM	muscle
39	chr17:45284200-45286200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr17:45284400-45293400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr17:45284600-45285600	Weak transcription	Fetal Muscle Trunk	muscle
42	chr17:45284600-45286000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr17:45284600-45286000	Weak transcription	Placenta	Placenta
44	chr17:45284800-45285800	Weak transcription	HSMMtube	muscle
45	chr17:45284800-45286000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr17:45285000-45286000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr17:45285000-45286000	Weak transcription	Primary T cells fromperipheralblood	blood
48	chr17:45285000-45286000	Weak transcription	Right Atrium	heart
49	chr17:45285000-45287400	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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