Variant report

Variant	rs12326060
Chromosome Location	chr18:8084165-8084166
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUND	chr18:8083992-8084575	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr18:8084064-8084589	A549	lung:	n/a	chr18:8084369-8084378 chr18:8084366-8084384 chr18:8084368-8084389
3	SMC3	chr18:8084077-8084589	HepG2	liver:	n/a	chr18:8084368-8084382
4	RAD21	chr18:8084122-8084656	HCT-116	colon:	n/a	chr18:8084367-8084386
5	ATF2	chr18:8084143-8084544	H1-hESC	embryonic stem cell:	n/a	n/a
6	RAD21	chr18:8084127-8084689	HCT-116	colon:	n/a	chr18:8084367-8084386
7	TEAD4	chr18:8084147-8084572	H1-hESC	embryonic stem cell:	n/a	n/a
8	CTCF	chr18:8084140-8084290	GM12870	blood:	n/a	n/a
9	RAD21	chr18:8084053-8085489	SK-N-SH	brain:	n/a	chr18:8085280-8085287 chr18:8084367-8084386
10	CTCF	chr18:8084108-8084550	H1-hESC	embryonic stem cell:	n/a	chr18:8084369-8084378 chr18:8084366-8084384 chr18:8084368-8084389
11	SMC3	chr18:8084028-8084728	SK-N-SH	brain:	n/a	chr18:8084368-8084382
12	CTCF	chr18:8084156-8084558	HepG2	liver:	n/a	chr18:8084369-8084378 chr18:8084366-8084384 chr18:8084368-8084389
13	CTCF	chr18:8084151-8084593	HCT-116	colon:	n/a	chr18:8084369-8084378 chr18:8084366-8084384 chr18:8084368-8084389
14	RAD21	chr18:8084150-8084609	HepG2	liver:	n/a	chr18:8084367-8084386
15	EP300	chr18:8084140-8084633	H1-hESC	embryonic stem cell:	n/a	n/a
16	CTCF	chr18:8084143-8084557	SK-N-SH	brain:	n/a	chr18:8084369-8084378 chr18:8084366-8084384 chr18:8084368-8084389
17	RAD21	chr18:8084114-8084557	SK-N-SH_RA	brain:	n/a	chr18:8084367-8084386
18	CTCF	chr18:8084143-8084497	H1-hESC	embryonic stem cell:	n/a	chr18:8084369-8084378 chr18:8084366-8084384 chr18:8084368-8084389
19	CTCF	chr18:8084160-8084310	WI-38	lung:	n/a	n/a
20	RAD21	chr18:8084107-8084618	A549	lung:	n/a	chr18:8084367-8084386
21	CTCF	chr18:8084084-8084618	MCF-7	breast:	n/a	chr18:8084369-8084378 chr18:8084366-8084384 chr18:8084368-8084389
22	TCF12	chr18:8084132-8084560	H1-hESC	embryonic stem cell:	n/a	chr18:8084229-8084238
23	CTCF	chr18:8084163-8084557	MCF-7	breast:	n/a	chr18:8084369-8084378 chr18:8084366-8084384 chr18:8084368-8084389
24	RAD21	chr18:8084113-8084503	H1-hESC	embryonic stem cell:	n/a	chr18:8084367-8084386

No.	Distal block	Cell Line	Cell type
1	chr18:8084095..8084801-chr18:8480239..8481127,2	MCF-7	breast:
2	chr18:8083979..8084822-chr18:8389405..8390232,2	MCF-7	breast:
3	chr18:8083873..8084797-chr18:8480210..8481159,3	MCF-7	breast:
4	chr18:8083548..8084811-chr18:8389384..8390298,8	MCF-7	breast:

Variant related genes	Relation type
PTPRM	TF binding region

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10083946	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10084009	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12326506	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2289685	1.00[AMR][1000 genomes]
rs73385699	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534374	chr18:7438812-8412546	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv1062911	chr18:7561991-8088274	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv543637	chr18:7561991-8088274	Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1064345	chr18:7562051-8088274	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv543638	chr18:7562051-8088274	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:8052600-8105200	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr18:8065600-8101600	Weak transcription	Aorta	Aorta
3	chr18:8066200-8094000	Weak transcription	Hela-S3	cervix
4	chr18:8067000-8085800	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr18:8067400-8110200	Weak transcription	Right Ventricle	heart
6	chr18:8067600-8094800	Weak transcription	NHDF-Ad	bronchial
7	chr18:8068000-8085800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr18:8068000-8092400	Weak transcription	Thymus	Thymus
9	chr18:8068000-8094800	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr18:8068000-8100000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr18:8068400-8095200	Weak transcription	Lung	lung
12	chr18:8068400-8101600	Weak transcription	Fetal Stomach	stomach
13	chr18:8068400-8102400	Weak transcription	Fetal Thymus	thymus
14	chr18:8068600-8124800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr18:8068800-8084400	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr18:8068800-8084800	Weak transcription	Fetal Heart	heart
17	chr18:8069000-8087600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr18:8069000-8102200	Weak transcription	Fetal Muscle Leg	muscle
19	chr18:8069000-8102400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr18:8069000-8102400	Weak transcription	Stomach Smooth Muscle	stomach
21	chr18:8069400-8103400	Weak transcription	Fetal Muscle Trunk	muscle
22	chr18:8069600-8088400	Weak transcription	HMEC	breast
23	chr18:8069600-8102400	Weak transcription	Brain Anterior Caudate	brain
24	chr18:8070000-8085800	Weak transcription	Brain Substantia Nigra	brain
25	chr18:8070000-8085800	Weak transcription	A549	lung
26	chr18:8070000-8093200	Weak transcription	Fetal Lung	lung
27	chr18:8070000-8097600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr18:8070200-8085400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr18:8074200-8102400	Weak transcription	Psoas Muscle	Psoas
30	chr18:8076400-8087600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr18:8078600-8085400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr18:8079000-8085400	Weak transcription	Left Ventricle	heart
33	chr18:8079000-8092600	Weak transcription	Ovary	ovary
34	chr18:8079200-8085600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr18:8079200-8085600	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr18:8079200-8085800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr18:8079400-8085600	Weak transcription	Adipose Nuclei	Adipose
38	chr18:8079400-8085800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr18:8080600-8091000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr18:8082200-8092600	Weak transcription	Gastric	stomach
41	chr18:8083000-8085400	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr18:8083200-8084200	Enhancers	H9 Cell Line	embryonic stem cell
43	chr18:8083200-8084200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr18:8083400-8085000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr18:8083600-8084200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
46	chr18:8083600-8084200	Enhancers	Stomach Mucosa	stomach
47	chr18:8083600-8086000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr18:8083800-8084200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr18:8083800-8084200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
50	chr18:8083800-8084800	Enhancers	ES-WA7 Cell Line	embryonic stem cell

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