Variant report

Variant	rs12535558
Chromosome Location	chr7:16807286-16807287
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:16805819..16808162-chr7:16843228..16844918,2	MCF-7	breast:
2	chr7:16791492..16793805-chr7:16805072..16808217,3	K562	blood:
3	chr7:16793040..16795145-chr7:16806357..16808475,2	MCF-7	breast:
4	chr7:16805955..16808414-chr7:16808769..16810759,2	K562	blood:
5	chr7:16685200..16687861-chr7:16804946..16807324,2	K562	blood:
6	chr7:16798134..16800758-chr7:16806574..16808872,2	MCF-7	breast:
7	chr7:16794764..16798120-chr7:16805812..16808493,3	MCF-7	breast:
8	chr7:16806775..16809760-chr7:16831007..16833203,2	K562	blood:
9	chr7:16655192..16657272-chr7:16805854..16808580,2	MCF-7	breast:
10	chr7:16800951..16805401-chr7:16805504..16810552,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000106537	Chromatin interaction
ENSG00000136261	Chromatin interaction
ENSG00000106524	Chromatin interaction
ENSG00000106541	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10233465	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10238328	0.95[ASN][1000 genomes]
rs1149519	0.92[ASN][1000 genomes]
rs1149522	0.95[ASN][1000 genomes]
rs1149524	0.95[ASN][1000 genomes]
rs1149526	0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12530923	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12540544	0.80[EUR][1000 genomes]
rs13232235	0.89[ASN][1000 genomes]
rs13244013	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1997114	0.83[ASN][1000 genomes]
rs1997115	0.86[ASN][1000 genomes]
rs2085706	0.87[ASN][1000 genomes]
rs2290836	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2290837	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34614062	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3779051	0.95[ASN][1000 genomes]
rs3807490	0.95[ASN][1000 genomes]
rs3807492	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3807509	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3823652	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4400279	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4721535	0.86[ASN][1000 genomes]
rs4721536	0.85[ASN][1000 genomes]
rs4721538	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4721539	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55802535	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62441050	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs6951449	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6962578	0.85[ASN][1000 genomes]
rs6975847	0.87[ASN][1000 genomes]
rs6980298	0.85[ASN][1000 genomes]
rs706055	0.86[ASN][1000 genomes]
rs73299615	0.85[ASN][1000 genomes]
rs7781646	0.90[ASN][1000 genomes]
rs7809197	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs818803	0.81[ASN][1000 genomes]
rs818804	0.82[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	nsv1028125	chr7:16529160-16847225	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1024059	chr7:16639432-16836425	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:16795000-16810200	Weak transcription	HMEC	breast
2	chr7:16795000-16810400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr7:16795000-16828400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr7:16795200-16810000	Weak transcription	NHEK	skin
5	chr7:16795200-16810600	Weak transcription	Fetal Muscle Leg	muscle
6	chr7:16795400-16813000	Weak transcription	Right Ventricle	heart
7	chr7:16796400-16810200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr7:16796600-16810400	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr7:16796600-16816200	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr7:16799000-16807800	Weak transcription	Primary hematopoietic stem cells	blood
11	chr7:16799000-16810400	Weak transcription	K562	blood
12	chr7:16799600-16810000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr7:16799600-16813000	Weak transcription	Stomach Mucosa	stomach
14	chr7:16800600-16825600	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr7:16801400-16810600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr7:16801600-16811200	Weak transcription	Spleen	Spleen
17	chr7:16802200-16810800	Weak transcription	Fetal Heart	heart
18	chr7:16802800-16817800	Weak transcription	Duodenum Mucosa	Duodenum
19	chr7:16803400-16810200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr7:16803600-16818000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr7:16803800-16825600	Weak transcription	Fetal Intestine Small	intestine
22	chr7:16805000-16832400	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr7:16805200-16808000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr7:16805200-16810600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr7:16805200-16813600	Weak transcription	Left Ventricle	heart
26	chr7:16805200-16815600	Weak transcription	Fetal Brain Female	brain
27	chr7:16805200-16815800	Weak transcription	Fetal Intestine Large	intestine
28	chr7:16806400-16810400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr7:16806400-16821400	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr7:16806800-16810000	Weak transcription	Primary B cells from peripheral blood	blood
31	chr7:16806800-16811000	Weak transcription	Primary B cells from cord blood	blood
32	chr7:16806800-16811200	Weak transcription	Adipose Nuclei	Adipose
33	chr7:16806800-16815200	Weak transcription	Pancreas	Pancrea

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