Variant report

Variant	rs73327183
Chromosome Location	chr17:45283481-45283482
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RELA	chr17:45282073-45283533	GM18951	blood:	n/a	n/a
2	MAX	chr17:45282867-45283536	HCT-116	colon:	n/a	n/a
3	IKZF1	chr17:45281264-45283770	GM12878	blood:	n/a	n/a
4	MTA3	chr17:45282009-45283661	GM12878	blood:	n/a	n/a
5	MAX	chr17:45282863-45283492	ECC-1	luminal epithelium:	n/a	n/a
6	MXI1	chr17:45282000-45283531	IMR90	lung:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:45273543..45276290-chr17:45282146..45284491,3	K562	blood:
2	chr17:45273712..45279094-chr17:45279285..45284499,7	K562	blood:
3	chr17:45265425..45269379-chr17:45279788..45284697,6	K562	blood:
4	chr17:45281266..45284177-chr17:45290868..45295313,4	K562	blood:
5	chr17:45264174..45269379-chr17:45283146..45288200,6	K562	blood:

No data

Variant related genes	Relation type
MYL4	TF binding region
ENSG00000004897	Chromatin interaction
ENSG00000198336	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]
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]
rs73327198	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:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45281000-45283600	Enhancers	Primary hematopoietic stem cells	blood
2	chr17:45281000-45283600	Enhancers	Placenta	Placenta
3	chr17:45281000-45283600	Flanking Active TSS	GM12878-XiMat	blood
4	chr17:45281000-45283600	Enhancers	HMEC	breast
5	chr17:45281000-45283600	Enhancers	NHLF	lung
6	chr17:45281000-45283800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr17:45281000-45286000	Enhancers	Fetal Muscle Leg	muscle
8	chr17:45281000-45288400	Enhancers	Fetal Thymus	thymus
9	chr17:45281200-45283600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr17:45281200-45284400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr17:45281400-45283600	Enhancers	Placenta Amnion	Placenta Amnion
12	chr17:45281400-45285000	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr17:45281600-45283600	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr17:45281800-45283600	Enhancers	Fetal Brain Male	brain
15	chr17:45282000-45283600	Enhancers	Fetal Intestine Small	intestine
16	chr17:45282200-45283600	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr17:45282200-45283600	Enhancers	Fetal Intestine Large	intestine
18	chr17:45282200-45283600	Enhancers	Stomach Mucosa	stomach
19	chr17:45282200-45283800	Enhancers	Fetal Kidney	kidney
20	chr17:45282200-45284000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr17:45282400-45283600	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
22	chr17:45282400-45283600	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr17:45282600-45283600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr17:45282600-45286000	Enhancers	K562	blood
25	chr17:45282600-45287400	Weak transcription	Lung	lung
26	chr17:45282800-45284000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr17:45282800-45284400	Enhancers	Primary T killer memory cells from peripheral blood	blood
28	chr17:45282800-45285600	Weak transcription	Spleen	Spleen
29	chr17:45282800-45285800	Enhancers	Fetal Heart	heart
30	chr17:45283000-45283600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr17:45283000-45283600	Enhancers	Osteobl	bone
32	chr17:45283000-45284600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
33	chr17:45283000-45284800	Enhancers	HSMMtube	muscle
34	chr17:45283000-45285000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr17:45283000-45285400	Enhancers	Primary T helper cells fromperipheralblood	blood
36	chr17:45283000-45285400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr17:45283000-45285600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
38	chr17:45283000-45285800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
39	chr17:45283000-45286200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
40	chr17:45283000-45287400	Weak transcription	Fetal Lung	lung
41	chr17:45283000-45289600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr17:45283200-45283800	Enhancers	NHDF-Ad	bronchial
43	chr17:45283200-45284000	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr17:45283200-45284200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr17:45283200-45284200	Enhancers	HSMM	muscle
46	chr17:45283200-45284400	Weak transcription	Pancreas	Pancrea
47	chr17:45283200-45285000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
48	chr17:45283200-45285000	Enhancers	Rectal Mucosa Donor 29	rectum
49	chr17:45283200-45285000	Enhancers	Right Atrium	heart
50	chr17:45283200-45286000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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