Variant report

Variant	rs7487359
Chromosome Location	chr12:46873216-46873217
allele	A/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	chr12:46758281..46761226-chr12:46870849..46874065,3	K562	blood:
2	chr12:46760941..46763759-chr12:46872852..46874857,2	MCF-7	breast:
3	chr12:46872950..46875847-chr12:46879914..46883290,3	K562	blood:
4	chr12:46764528..46766166-chr12:46871447..46874277,3	MCF-7	breast:
5	chr12:46775882..46782891-chr12:46867252..46874732,11	MCF-7	breast:
6	chr12:46872950..46874891-chr12:46879914..46882700,2	K562	blood:
7	chr12:46764163..46766533-chr12:46871706..46874790,3	K562	blood:
8	chr12:46865908..46869326-chr12:46872874..46876694,4	MCF-7	breast:
9	chr12:46871245..46874397-chr12:46874774..46877643,3	MCF-7	breast:
10	chr12:46748464..46750093-chr12:46871692..46873672,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000134294	Chromatin interaction
ENSG00000257261	Chromatin interaction
ENSG00000258096	Chromatin interaction
ENSG00000257496	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11183519	0.85[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.96[AMR][1000 genomes]
rs12301825	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12311952	0.85[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.91[AMR][1000 genomes]
rs12318944	0.96[AMR][1000 genomes]
rs12579010	0.82[AMR][1000 genomes]
rs12579984	0.82[AMR][1000 genomes]
rs12580176	0.80[AMR][1000 genomes]
rs12581743	0.82[AMR][1000 genomes]
rs17097079	0.82[AMR][1000 genomes]
rs17097091	0.85[CHB][hapmap];0.89[YRI][hapmap];0.82[AMR][1000 genomes]
rs1946174	0.93[AMR][1000 genomes]
rs2408616	0.82[AMR][1000 genomes]
rs4768124	0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4768126	0.82[AMR][1000 genomes]
rs4768740	0.83[JPT][hapmap];0.82[AMR][1000 genomes]
rs58806862	0.82[AMR][1000 genomes]
rs59408501	0.96[AMR][1000 genomes]
rs7132144	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7133051	0.80[AMR][1000 genomes]
rs7136117	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7297406	0.95[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7310614	0.80[AMR][1000 genomes]
rs7311414	0.80[AMR][1000 genomes]
rs7315740	0.80[AMR][1000 genomes]
rs73282105	0.80[AMR][1000 genomes]
rs73282110	0.80[AMR][1000 genomes]
rs7487705	0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7976785	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.88[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	esv1842882	chr12:46691487-47009428	Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	149 gene(s)	inside rSNPs	diseases
2	nsv1049525	chr12:46721742-47264172	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
3	nsv541486	chr12:46721742-47264172	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
4	esv3429861	chr12:46762813-46988789	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	145 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:46844600-46886000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr12:46864200-46877400	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr12:46864400-46877400	Weak transcription	Primary T cells from cord blood	blood
4	chr12:46865400-46879200	Weak transcription	Right Ventricle	heart
5	chr12:46867800-46873400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr12:46867800-46875800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr12:46868000-46876200	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr12:46868000-46876200	Weak transcription	Primary B cells from cord blood	blood
9	chr12:46868000-46876400	Weak transcription	K562	blood
10	chr12:46868000-46881200	Weak transcription	GM12878-XiMat	blood
11	chr12:46868000-46883200	Weak transcription	Fetal Heart	heart
12	chr12:46868200-46877400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr12:46868200-46879200	Weak transcription	Primary B cells from peripheral blood	blood
14	chr12:46868600-46874000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr12:46868600-46874000	Weak transcription	Pancreas	Pancrea
16	chr12:46868600-46874000	Weak transcription	NHDF-Ad	bronchial
17	chr12:46868600-46874000	Weak transcription	NHEK	skin
18	chr12:46868600-46874200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr12:46868600-46877400	Weak transcription	Fetal Intestine Small	intestine
20	chr12:46868600-46877400	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr12:46868600-46877600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr12:46868600-46877600	Weak transcription	Ovary	ovary
23	chr12:46868600-46883000	Weak transcription	Left Ventricle	heart
24	chr12:46868600-46883400	Weak transcription	Psoas Muscle	Psoas
25	chr12:46868600-46889200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr12:46868800-46876600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr12:46868800-46883400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr12:46868800-46886000	Weak transcription	HSMMtube	muscle
29	chr12:46869200-46876400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr12:46869200-46876800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr12:46870400-46880400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr12:46871200-46874000	Weak transcription	Esophagus	oesophagus
33	chr12:46871200-46874000	Weak transcription	Gastric	stomach
34	chr12:46871200-46887800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr12:46871600-46874200	Weak transcription	Osteobl	bone
36	chr12:46871800-46874000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr12:46872000-46874000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr12:46872000-46874000	Weak transcription	HUVEC	blood vessel
39	chr12:46872000-46876400	Weak transcription	A549	lung
40	chr12:46872000-46876600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr12:46872000-46876800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr12:46872000-46877600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr12:46872000-46877600	Weak transcription	NHLF	lung
44	chr12:46872200-46873800	Weak transcription	Hela-S3	cervix
45	chr12:46872200-46874200	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr12:46872200-46875800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr12:46872600-46873600	Enhancers	HepG2	liver
48	chr12:46872800-46875600	Weak transcription	Primary hematopoietic stem cells	blood
49	chr12:46873000-46877600	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr12:46873000-46880400	Weak transcription	Sigmoid Colon	Sigmoid Colon

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