Variant report

Variant	rs73333443
Chromosome Location	chr5:126117168-126117169
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

No data

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

No.	Distal block	Cell Line	Cell type
1	chr5:125877878..125880557-chr5:126115918..126118031,2	MCF-7	breast:
2	chr5:126111234..126115600-chr5:126116361..126125062,16	K562	blood:
3	chr5:126116007..126118146-chr5:126123068..126125342,2	K562	blood:
4	chr5:125928101..125931036-chr5:126115969..126118451,2	MCF-7	breast:
5	chr5:125990916..125992707-chr5:126114445..126117654,3	K562	blood:
6	chr5:126089250..126100296-chr5:126109758..126119075,20	K562	blood:
7	chr5:126112480..126114366-chr5:126115512..126117384,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000164904	Chromatin interaction
ENSG00000252185	Chromatin interaction
ENSG00000113368	Chromatin interaction
ENSG00000251072	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs56893573	1.00[AMR][1000 genomes]
rs57813213	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59087318	1.00[AMR][1000 genomes]
rs61089732	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61548555	1.00[AMR][1000 genomes]
rs61661009	1.00[AMR][1000 genomes]
rs73333414	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73333419	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73333420	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73333425	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73333427	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73333429	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73333434	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73333442	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73333449	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73333453	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73333456	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73333460	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73333464	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73333466	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73333497	1.00[AMR][1000 genomes]
rs7731899	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7731916	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7732208	0.93[AFR][1000 genomes];1.00[AMR][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	nsv949054	chr5:125918148-126254480	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	nsv534292	chr5:125993451-126259315	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126114600-126118600	Weak transcription	Gastric	stomach
2	chr5:126114600-126141600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr5:126114600-126142000	Weak transcription	Spleen	Spleen
4	chr5:126114600-126161600	Weak transcription	Ovary	ovary
5	chr5:126115000-126140400	Weak transcription	Fetal Intestine Large	intestine
6	chr5:126115200-126118200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr5:126115200-126122400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr5:126115200-126123600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr5:126115200-126123600	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr5:126115800-126131800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr5:126115800-126137400	Weak transcription	HSMM	muscle
12	chr5:126115800-126145800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr5:126116000-126119400	Weak transcription	HMEC	breast
14	chr5:126116000-126123800	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr5:126116000-126141600	Weak transcription	Fetal Stomach	stomach
16	chr5:126116200-126117200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr5:126116200-126117800	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr5:126116200-126117800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
19	chr5:126116400-126117200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr5:126116400-126117200	Enhancers	Monocytes-CD14+_RO01746	blood
21	chr5:126116400-126117400	Weak transcription	K562	blood
22	chr5:126116400-126117600	Weak transcription	Fetal Heart	heart
23	chr5:126116400-126117600	Weak transcription	NHDF-Ad	bronchial
24	chr5:126116400-126117800	Strong transcription	HUES6 Cell Line	embryonic stem cell
25	chr5:126116400-126118000	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr5:126116400-126119200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr5:126116400-126119600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr5:126116400-126122200	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr5:126116400-126122200	Weak transcription	Fetal Kidney	kidney
30	chr5:126116400-126123600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr5:126116400-126123800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr5:126116400-126124800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr5:126116400-126125000	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr5:126116400-126125200	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr5:126116400-126128600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr5:126116400-126128600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr5:126116400-126128800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr5:126116400-126128800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr5:126116400-126130000	Weak transcription	Fetal Lung	lung
40	chr5:126116400-126137000	Weak transcription	Primary T cells from cord blood	blood
41	chr5:126116400-126140000	Weak transcription	Primary hematopoietic stem cells	blood
42	chr5:126116400-126140200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr5:126116400-126140200	Weak transcription	Thymus	Thymus
44	chr5:126116400-126141000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr5:126116400-126143400	Weak transcription	Primary B cells from cord blood	blood
46	chr5:126116600-126117600	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr5:126116600-126117600	Weak transcription	A549	lung
48	chr5:126116600-126117600	Weak transcription	HepG2	liver
49	chr5:126116600-126118200	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr5:126116600-126118800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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