Variant report

Variant	rs712551
Chromosome Location	chr5:114960333-114960334
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:114880215..114881730-chr5:114959993..114961960,2	K562	blood:
2	chr5:114936247..114938177-chr5:114959534..114962655,3	K562	blood:
3	chr5:114934797..114939548-chr5:114953575..114961976,8	K562	blood:
4	chr5:114919821..114922254-chr5:114958227..114960432,2	K562	blood:
5	chr5:114823713..114825523-chr5:114959295..114961713,2	K562	blood:
6	chr5:114959789..114964126-chr5:115174280..115179155,11	MCF-7	breast:
7	chr5:114959972..114961559-chr5:114968559..114970452,2	K562	blood:
8	chr5:114958936..114960751-chr5:115402229..115404106,2	K562	blood:
9	chr5:114630095..114632050-chr5:114960167..114962829,2	MCF-7	breast:
10	chr5:114960090..114964183-chr5:115419193..115421485,4	MCF-7	breast:
11	chr5:114959625..114963439-chr5:115175786..115178902,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000145780	Chromatin interaction
ENSG00000249944	Chromatin interaction
ENSG00000243414	Chromatin interaction
ENSG00000177879	Chromatin interaction
ENSG00000145782	Chromatin interaction
ENSG00000145781	Chromatin interaction
ENSG00000164221	Chromatin interaction
ENSG00000134970	Chromatin interaction
ENSG00000249249	Chromatin interaction
ENSG00000271918	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10055677	0.95[ASN][1000 genomes]
rs13186296	0.92[ASN][1000 genomes]
rs171773	0.83[EUR][1000 genomes]
rs2559990	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs256941	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs256942	0.84[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs256943	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs256947	0.95[ASN][1000 genomes]
rs256948	0.80[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs256949	0.94[ASN][1000 genomes]
rs256950	0.95[ASN][1000 genomes]
rs256951	0.95[ASN][1000 genomes]
rs256952	0.95[ASN][1000 genomes]
rs256953	0.95[ASN][1000 genomes]
rs256954	0.95[ASN][1000 genomes]
rs256962	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs256968	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs256994	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs256996	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs377290	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3822579	0.92[ASN][1000 genomes]
rs387718	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs400570	0.85[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs413059	0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs416234	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs424434	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs428191	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62371215	0.82[ASN][1000 genomes]
rs698366	0.85[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs698367	0.84[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs712550	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7702283	0.95[ASN][1000 genomes]
rs7702869	0.94[ASN][1000 genomes]
rs7702881	0.94[ASN][1000 genomes]
rs790824	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs790825	0.87[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs9326969	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv916273	chr5:114656592-115089901	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv868915	chr5:114723371-115252527	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:114957400-114960400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
2	chr5:114958000-114960400	Enhancers	Fetal Heart	heart
3	chr5:114958000-114960600	Enhancers	Primary B cells from peripheral blood	blood
4	chr5:114958000-114960600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr5:114958000-114961200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr5:114958200-114960400	Enhancers	Primary T cells fromperipheralblood	blood
7	chr5:114958400-114960400	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr5:114958600-114960600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr5:114958600-114960800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr5:114958800-114960400	Transcr. at gene 5' and 3'	K562	blood
11	chr5:114958800-114960600	Enhancers	Spleen	Spleen
12	chr5:114958800-114960800	Enhancers	Placenta Amnion	Placenta Amnion
13	chr5:114958800-114960800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
14	chr5:114958800-114961000	Flanking Active TSS	Liver	Liver
15	chr5:114958800-114962400	Active TSS	Aorta	Aorta
16	chr5:114959000-114961000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr5:114959200-114960400	Flanking Active TSS	HMEC	breast
18	chr5:114959200-114960600	Flanking Active TSS	Osteobl	bone
19	chr5:114959200-114960800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr5:114959200-114960800	Flanking Active TSS	HUVEC	blood vessel
21	chr5:114959200-114961000	Flanking Active TSS	Duodenum Mucosa	Duodenum
22	chr5:114959200-114962400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr5:114959400-114960400	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr5:114959400-114960600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
25	chr5:114959400-114960600	Flanking Active TSS	Brain Hippocampus Middle	brain
26	chr5:114959400-114960600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
27	chr5:114959400-114960600	Flanking Active TSS	Hela-S3	cervix
28	chr5:114959400-114960600	Flanking Active TSS	NH-A	brain
29	chr5:114959400-114960600	Flanking Active TSS	NHEK	skin
30	chr5:114959400-114961000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr5:114959400-114962400	Active TSS	Fetal Intestine Large	intestine
32	chr5:114959400-114962400	Active TSS	Left Ventricle	heart
33	chr5:114959600-114960600	Enhancers	Primary neutrophils fromperipheralblood	blood
34	chr5:114959600-114960800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
35	chr5:114959600-114961000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
36	chr5:114959600-114961000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
37	chr5:114959600-114961200	Flanking Active TSS	Adipose Nuclei	Adipose
38	chr5:114959600-114961400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
39	chr5:114959600-114962600	Active TSS	ES-I3 Cell Line	embryonic stem cell
40	chr5:114959600-114962800	Active TSS	GM12878-XiMat	blood
41	chr5:114959800-114960600	Flanking Active TSS	Fetal Brain Female	brain
42	chr5:114959800-114960600	Flanking Active TSS	Psoas Muscle	Psoas
43	chr5:114959800-114960600	Flanking Active TSS	Right Ventricle	heart
44	chr5:114959800-114960600	Flanking Active TSS	A549	lung
45	chr5:114959800-114960800	Enhancers	Primary monocytes fromperipheralblood	blood
46	chr5:114959800-114960800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
47	chr5:114959800-114960800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
48	chr5:114959800-114960800	Flanking Active TSS	Colonic Mucosa	Colon
49	chr5:114959800-114961000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr5:114959800-114961000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell

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