Variant report

Variant	rs60282545
Chromosome Location	chr12:120655924-120655925
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr12:120655870-120655934	HUVEC	blood vessel:	n/a	n/a
2	POLR2A	chr12:120655906-120655958	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr12:120655604-120656170	PANC-1	pancreas:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:120646880..120656528-chr12:120726067..120732546,19	K562	blood:
2	chr12:120642171..120684465-chr12:120719749..120734210,267	K562	blood:
3	chr12:120649749..120656129-chr12:120724644..120730997,12	MCF-7	breast:
4	chr12:120636643..120640382-chr12:120654763..120656883,3	K562	blood:

No data

Variant related genes	Relation type
PXN	TF binding region
ENSG00000202538	Chromatin interaction
ENSG00000089157	Chromatin interaction
ENSG00000200795	Chromatin interaction
ENSG00000123009	Chromatin interaction
ENSG00000255857	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1151821	0.91[ASN][1000 genomes]
rs1151822	0.88[ASN][1000 genomes]
rs1151823	0.95[ASN][1000 genomes]
rs1151826	0.95[ASN][1000 genomes]
rs1151828	0.95[ASN][1000 genomes]
rs1151833	0.95[ASN][1000 genomes]
rs1151835	0.95[ASN][1000 genomes]
rs1151836	0.95[ASN][1000 genomes]
rs1166788	0.95[ASN][1000 genomes]
rs1166789	0.90[ASN][1000 genomes]
rs1179386	0.90[ASN][1000 genomes]
rs12322327	0.90[ASN][1000 genomes]
rs12580333	1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs1632619	0.95[ASN][1000 genomes]
rs1634820	0.91[ASN][1000 genomes]
rs2239207	0.95[ASN][1000 genomes]
rs2283363	1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2701641	0.95[ASN][1000 genomes]
rs58777856	1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs58919380	0.95[ASN][1000 genomes]
rs60134107	0.95[ASN][1000 genomes]
rs61633133	0.95[ASN][1000 genomes]
rs71541558	1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3525916	chr12:120345352-120665045	Bivalent Enhancer Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
2	esv3525917	chr12:120345352-120665045	Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
3	nsv899555	chr12:120519124-120840522	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	499 gene(s)	inside rSNPs	diseases
4	nsv519657	chr12:120533696-120676090	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
5	nsv560433	chr12:120533696-120676090	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
6	nsv832530	chr12:120586069-120758175	Flanking Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	484 gene(s)	inside rSNPs	diseases
7	nsv1035698	chr12:120645330-120777580	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	436 gene(s)	inside rSNPs	diseases
8	nsv1047447	chr12:120645330-120808621	Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	436 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120640200-120661800	Weak transcription	GM12878-XiMat	blood
2	chr12:120640200-120662400	Weak transcription	Fetal Brain Male	brain
3	chr12:120643800-120661800	Strong transcription	Fetal Muscle Leg	muscle
4	chr12:120644000-120660400	Strong transcription	Fetal Intestine Small	intestine
5	chr12:120644000-120662600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr12:120644200-120656600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr12:120644800-120661400	Strong transcription	Fetal Intestine Large	intestine
8	chr12:120645800-120656600	Weak transcription	K562	blood
9	chr12:120646400-120662400	Weak transcription	Right Atrium	heart
10	chr12:120647000-120661400	Strong transcription	Duodenum Mucosa	Duodenum
11	chr12:120647200-120661400	Strong transcription	Fetal Muscle Trunk	muscle
12	chr12:120647400-120661600	Strong transcription	Muscle Satellite Cultured Cells	--
13	chr12:120647600-120659000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr12:120647600-120659200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr12:120647600-120660000	Strong transcription	Stomach Smooth Muscle	stomach
16	chr12:120647600-120661400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr12:120647600-120661400	Strong transcription	Pancreas	Pancrea
18	chr12:120647600-120661800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr12:120647600-120661800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr12:120647600-120661800	Strong transcription	Skeletal Muscle Female	skeletal muscle
21	chr12:120647600-120662000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr12:120647600-120662000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr12:120647600-120662000	Strong transcription	Adipose Nuclei	Adipose
24	chr12:120647600-120662600	Strong transcription	HUES6 Cell Line	embryonic stem cell
25	chr12:120647600-120662600	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr12:120647600-120662600	Strong transcription	Primary T helper cells fromperipheralblood	blood
27	chr12:120647600-120662600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr12:120647800-120660800	Strong transcription	HUVEC	blood vessel
29	chr12:120647800-120661600	Strong transcription	Placenta Amnion	Placenta Amnion
30	chr12:120647800-120661600	Strong transcription	Skeletal Muscle Male	skeletal muscle
31	chr12:120647800-120661800	Strong transcription	Primary T cells fromperipheralblood	blood
32	chr12:120647800-120662200	Strong transcription	Monocytes-CD14+_RO01746	blood
33	chr12:120648000-120662200	Strong transcription	Primary T helper cells PMA-I stimulated	--
34	chr12:120648000-120662800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr12:120648000-120662800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr12:120648200-120662200	Strong transcription	Fetal Stomach	stomach
37	chr12:120648800-120656800	Strong transcription	HMEC	breast
38	chr12:120649600-120661800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr12:120649600-120661800	Weak transcription	Fetal Heart	heart
40	chr12:120649800-120661600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
41	chr12:120650000-120661400	Strong transcription	Colonic Mucosa	Colon
42	chr12:120650200-120661400	Strong transcription	Rectal Mucosa Donor 29	rectum
43	chr12:120650400-120656400	Weak transcription	Psoas Muscle	Psoas
44	chr12:120650600-120661400	Strong transcription	NHEK	skin
45	chr12:120650800-120659000	Weak transcription	Primary B cells from cord blood	blood
46	chr12:120651600-120656600	Weak transcription	Hela-S3	cervix
47	chr12:120651600-120659600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr12:120651800-120658400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr12:120651800-120659200	Weak transcription	Primary hematopoietic stem cells	blood
50	chr12:120651800-120661400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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