Variant report

Variant	rs73772384
Chromosome Location	chr5:68626777-68626778
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:68626776-68626795	MCF-7	breast:	n/a	n/a
2	GATA3	chr5:68626561-68626883	T-47D	breast:	n/a	n/a
3	FOXA1	chr5:68626576-68626863	T-47D	breast:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:68626762..68628383-chr5:68787111..68789288,2	MCF-7	breast:
2	chr5:68485299..68487066-chr5:68626120..68629033,4	MCF-7	breast:
3	chr5:68626462..68633259-chr5:68656360..68665608,14	MCF-7	breast:
4	chr5:68606839..68610803-chr5:68625940..68628885,4	MCF-7	breast:
5	chr5:68626208..68627882-chr5:68665634..68668081,2	MCF-7	breast:
6	chr5:68625641..68627490-chr5:68628684..68631572,2	K562	blood:
7	chr5:68511595..68514121-chr5:68626401..68628217,2	MCF-7	breast:
8	chr5:68534808..68537076-chr5:68626446..68628069,2	MCF-7	breast:

No data

Variant related genes	Relation type
CHCHD2P2	TF binding region
ENSG00000085231	Chromatin interaction
ENSG00000153044	Chromatin interaction
ENSG00000134056	Chromatin interaction
ENSG00000152942	Chromatin interaction
ENSG00000213830	Chromatin interaction
ENSG00000197822	Chromatin interaction
ENSG00000215006	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs17236219	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17236380	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17236422	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17236450	1.00[AMR][1000 genomes]
rs17236618	1.00[EUR][1000 genomes]
rs17236639	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1873431	1.00[EUR][1000 genomes]
rs4252222	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4252226	1.00[EUR][1000 genomes]
rs4252229	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55754329	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55764482	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56112110	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56362385	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57344277	1.00[EUR][1000 genomes]
rs57402724	1.00[EUR][1000 genomes]
rs57714822	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58172827	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58381452	1.00[EUR][1000 genomes]
rs58742544	1.00[EUR][1000 genomes]
rs59233462	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59776629	1.00[EUR][1000 genomes]
rs59799008	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60644166	1.00[AMR][1000 genomes]
rs61244656	1.00[EUR][1000 genomes]
rs61290150	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6861518	1.00[EUR][1000 genomes]
rs6876889	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6893921	1.00[EUR][1000 genomes]
rs73772537	1.00[AMR][1000 genomes]
rs73772541	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73772542	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73772544	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73772545	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73772550	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7725200	1.00[EUR][1000 genomes]
rs8192269	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018151	chr5:68377118-68667581	Enhancers Active TSS Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv1035004	chr5:68405526-68670101	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	nsv969960	chr5:68613678-68646127	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	esv3515528	chr5:68624487-68653938	Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	esv3515529	chr5:68624487-68653938	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv881767	chr5:68625786-68733698	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:68565600-68627400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr5:68576400-68627600	Weak transcription	Brain Substantia Nigra	brain
3	chr5:68576400-68627800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr5:68576600-68627800	Weak transcription	Brain Angular Gyrus	brain
5	chr5:68577400-68628200	Weak transcription	Small Intestine	intestine
6	chr5:68577600-68627400	Weak transcription	NHEK	skin
7	chr5:68581600-68627600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr5:68581800-68626800	Weak transcription	Fetal Brain Female	brain
9	chr5:68581800-68627600	Weak transcription	Brain Anterior Caudate	brain
10	chr5:68591600-68627600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr5:68596000-68626800	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr5:68599600-68627800	Weak transcription	NH-A	brain
13	chr5:68601400-68627600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr5:68605600-68627400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr5:68609600-68627400	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr5:68609600-68627600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr5:68609800-68627200	Weak transcription	Rectal Smooth Muscle	rectum
18	chr5:68609800-68627400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr5:68609800-68627400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr5:68609800-68627400	Weak transcription	Esophagus	oesophagus
21	chr5:68609800-68627400	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr5:68609800-68627400	Weak transcription	GM12878-XiMat	blood
23	chr5:68609800-68627600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr5:68609800-68627600	Weak transcription	Fetal Thymus	thymus
25	chr5:68609800-68628200	Weak transcription	Right Ventricle	heart
26	chr5:68609800-68628400	Weak transcription	Lung	lung
27	chr5:68610000-68627400	Weak transcription	Dnd41	blood
28	chr5:68610400-68627600	Weak transcription	Primary B cells from peripheral blood	blood
29	chr5:68610600-68627800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr5:68611000-68628200	Weak transcription	Aorta	Aorta
31	chr5:68612400-68627400	Weak transcription	Adipose Nuclei	Adipose
32	chr5:68613800-68627200	Weak transcription	Primary hematopoietic stem cells	blood
33	chr5:68613800-68627400	Weak transcription	Primary B cells from cord blood	blood
34	chr5:68614200-68627400	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr5:68616400-68627400	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr5:68616600-68628200	Weak transcription	Left Ventricle	heart
37	chr5:68616800-68627200	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr5:68617000-68627400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr5:68617000-68627600	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr5:68617400-68627400	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr5:68618000-68627400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr5:68621000-68628200	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr5:68621400-68627600	Weak transcription	Primary T cells from cord blood	blood
44	chr5:68622000-68627400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr5:68622800-68627000	Weak transcription	Duodenum Mucosa	Duodenum
46	chr5:68622800-68627600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr5:68625800-68627200	Enhancers	HepG2	liver
48	chr5:68625800-68627400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr5:68625800-68627400	Enhancers	Primary neutrophils fromperipheralblood	blood
50	chr5:68626200-68627400	Weak transcription	K562	blood

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