Variant report

Variant	rs58151499
Chromosome Location	chr5:68391096-68391097
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:68388349..68391314-chr5:68786934..68789626,2	MCF-7	breast:
2	chr5:68388706..68391393-chr5:68627238..68631529,6	MCF-7	breast:
3	chr5:68387785..68391337-chr5:68461261..68464730,5	K562	blood:
4	chr5:68388226..68392530-chr5:68662317..68667070,8	K562	blood:
5	chr5:68388860..68391967-chr5:68513712..68515652,4	K562	blood:
6	chr5:68387450..68391238-chr5:68664593..68668133,5	MCF-7	breast:
7	chr5:68388388..68391466-chr5:68512032..68515267,4	MCF-7	breast:
8	chr5:68337727..68340697-chr5:68388577..68391488,3	MCF-7	breast:
9	chr5:68389720..68391335-chr5:68512201..68513725,2	MCF-7	breast:
10	chr5:68388464..68391397-chr5:68483791..68487195,4	K562	blood:
11	chr5:68389331..68393521-chr5:68397846..68403936,9	K562	blood:
12	chr5:68388570..68392149-chr5:68396982..68399420,3	MCF-7	breast:
13	chr5:68388453..68391488-chr5:68483791..68487092,6	K562	blood:
14	chr5:68389777..68391751-chr5:68483907..68486743,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000183323	Chromatin interaction
ENSG00000250237	Chromatin interaction
ENSG00000134056	Chromatin interaction
ENSG00000153044	Chromatin interaction
ENSG00000134057	Chromatin interaction
ENSG00000145740	Chromatin interaction
ENSG00000152942	Chromatin interaction
ENSG00000197822	Chromatin interaction
ENSG00000085231	Chromatin interaction
ENSG00000215006	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10454824	0.94[AFR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10940199	0.96[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11743118	0.83[ASN][1000 genomes]
rs12519270	0.96[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12522805	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13185437	0.90[ASN][1000 genomes]
rs16898486	0.96[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16898499	0.87[AFR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4976217	0.95[ASN][1000 genomes]
rs58575768	0.95[AFR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59734653	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67722222	0.93[ASN][1000 genomes]
rs7718228	0.95[AFR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7719198	0.90[AFR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7719482	0.89[AFR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7733034	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	esv3391099	chr5:68377245-68400350	Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
3	nsv881765	chr5:68379836-68448694	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	esv3413325	chr5:68389021-68391569	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	16 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	chr5:68389400-68391200	Active TSS	HUES48 Cell Line	embryonic stem cell
2	chr5:68389400-68391200	Active TSS	HUES64 Cell Line	embryonic stem cell
3	chr5:68389400-68391200	Active TSS	iPS-15b Cell Line	embryonic stem cell
4	chr5:68389400-68391200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr5:68389400-68391200	Active TSS	Breast Myoepithelial Primary Cells	Breast
6	chr5:68389400-68391200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr5:68389400-68391200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr5:68389400-68391200	Active TSS	Fetal Intestine Large	intestine
9	chr5:68389400-68391200	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr5:68389400-68391200	Active TSS	A549	lung
11	chr5:68389400-68391200	Active TSS	HepG2	liver
12	chr5:68389400-68391200	Active TSS	HSMM	muscle
13	chr5:68389400-68391400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr5:68389400-68391400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr5:68389400-68391400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr5:68389400-68391400	Active TSS	Pancreas	Pancrea
17	chr5:68389400-68391600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr5:68389400-68391600	Active TSS	Colonic Mucosa	Colon
19	chr5:68389600-68391200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr5:68389800-68391200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr5:68389800-68391400	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
22	chr5:68390200-68391200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
23	chr5:68390200-68391400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr5:68390400-68391200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr5:68390400-68391400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr5:68390600-68391200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr5:68390600-68391200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
28	chr5:68390600-68391200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr5:68390600-68391200	Flanking Active TSS	Duodenum Mucosa	Duodenum
30	chr5:68390600-68391200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
31	chr5:68390600-68391200	Flanking Active TSS	NH-A	brain
32	chr5:68390600-68391200	Flanking Active TSS	Osteobl	bone
33	chr5:68390600-68391400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr5:68390600-68391400	Enhancers	Small Intestine	intestine
35	chr5:68390600-68391600	Flanking Active TSS	Hela-S3	cervix
36	chr5:68390600-68405600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr5:68390800-68391200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr5:68390800-68391200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
39	chr5:68390800-68391200	Flanking Active TSS	Placenta	Placenta
40	chr5:68390800-68391200	Flanking Active TSS	Dnd41	blood
41	chr5:68390800-68391200	Flanking Active TSS	HMEC	breast
42	chr5:68390800-68391200	Flanking Active TSS	NHEK	skin
43	chr5:68390800-68391200	Flanking Active TSS	NHLF	lung
44	chr5:68390800-68391400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr5:68390800-68391400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
46	chr5:68390800-68391400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
47	chr5:68390800-68391400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
48	chr5:68390800-68391400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
49	chr5:68390800-68391400	Enhancers	Gastric	stomach
50	chr5:68390800-68391400	Enhancers	Left Ventricle	heart

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