Variant report

Variant	rs3925101
Chromosome Location	chr12:46869663-46869664
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:46763709..46766577-chr12:46865824..46870117,4	K562	blood:
2	chr12:46865906..46867668-chr12:46868121..46870564,2	K562	blood:
3	chr12:46867765..46869816-chr12:46873759..46876324,2	K562	blood:
4	chr12:46868625..46870317-chr12:46878196..46880801,2	MCF-7	breast:
5	chr12:46850488..46852109-chr12:46868187..46870215,2	MCF-7	breast:
6	chr12:46775882..46782891-chr12:46867252..46874732,11	MCF-7	breast:
7	chr12:46853187..46855713-chr12:46867709..46870623,2	K562	blood:
8	chr12:46764487..46767688-chr12:46865633..46870599,8	MCF-7	breast:
9	chr12:46750575..46752943-chr12:46867557..46871198,3	K562	blood:

No data

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

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

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10748450	0.87[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs10785628	0.85[AMR][1000 genomes]
rs10785629	0.87[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs10880973	0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs10880974	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11183502	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11183503	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11183504	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11837427	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12313929	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12827740	0.83[AMR][1000 genomes]
rs4077707	0.89[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4077708	0.85[AMR][1000 genomes]
rs4768123	0.85[AMR][1000 genomes]
rs4768723	0.85[AMR][1000 genomes]
rs4768724	0.87[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4768725	0.87[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4768726	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4768727	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4768728	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4768729	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4768730	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6582657	0.87[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs6582658	0.87[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6582659	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6582660	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6582661	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6582663	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7486915	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7488144	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7488577	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7954645	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7956314	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7960808	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7964767	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7980455	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9706162	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9706460	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9706520	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[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:58 , 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	chr12:46865400-46870200	Weak transcription	Lung	lung
5	chr12:46865400-46879200	Weak transcription	Right Ventricle	heart
6	chr12:46866400-46871000	Weak transcription	Gastric	stomach
7	chr12:46866400-46871400	Weak transcription	Dnd41	blood
8	chr12:46867800-46871600	Weak transcription	Fetal Thymus	thymus
9	chr12:46867800-46873400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr12:46867800-46875800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr12:46868000-46872200	Enhancers	HepG2	liver
12	chr12:46868000-46876200	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr12:46868000-46876200	Weak transcription	Primary B cells from cord blood	blood
14	chr12:46868000-46876400	Weak transcription	K562	blood
15	chr12:46868000-46881200	Weak transcription	GM12878-XiMat	blood
16	chr12:46868000-46883200	Weak transcription	Fetal Heart	heart
17	chr12:46868200-46871000	Weak transcription	NHLF	lung
18	chr12:46868200-46877400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr12:46868200-46879200	Weak transcription	Primary B cells from peripheral blood	blood
20	chr12:46868400-46871200	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr12:46868600-46869800	Weak transcription	Placenta	Placenta
22	chr12:46868600-46870000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr12:46868600-46870000	Weak transcription	Fetal Muscle Leg	muscle
24	chr12:46868600-46870200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr12:46868600-46870200	Weak transcription	Esophagus	oesophagus
26	chr12:46868600-46870200	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr12:46868600-46870400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr12:46868600-46871000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr12:46868600-46871000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr12:46868600-46871200	Weak transcription	Osteobl	bone
31	chr12:46868600-46872400	Weak transcription	Primary hematopoietic stem cells	blood
32	chr12:46868600-46872600	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr12:46868600-46872800	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr12:46868600-46874000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr12:46868600-46874000	Weak transcription	Pancreas	Pancrea
36	chr12:46868600-46874000	Weak transcription	NHDF-Ad	bronchial
37	chr12:46868600-46874000	Weak transcription	NHEK	skin
38	chr12:46868600-46874200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr12:46868600-46877400	Weak transcription	Fetal Intestine Small	intestine
40	chr12:46868600-46877400	Weak transcription	Monocytes-CD14+_RO01746	blood
41	chr12:46868600-46877600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr12:46868600-46877600	Weak transcription	Ovary	ovary
43	chr12:46868600-46883000	Weak transcription	Left Ventricle	heart
44	chr12:46868600-46883400	Weak transcription	Psoas Muscle	Psoas
45	chr12:46868600-46889200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr12:46868800-46871000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr12:46868800-46871000	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr12:46868800-46871400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr12:46868800-46876600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr12:46868800-46883400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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