Variant report

Variant	rs61320647
Chromosome Location	chr18:12783180-12783181
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:12782549..12784083-chr18:12790656..12792584,2	K562	blood:
2	chr18:12772443..12775307-chr18:12781731..12784605,2	MCF-7	breast:
3	chr18:12781887..12785932-chr18:12786559..12789207,4	K562	blood:
4	chr18:12781370..12783696-chr18:12786245..12788865,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000175354	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10468685	1.00[EUR][1000 genomes]
rs13381820	1.00[EUR][1000 genomes]
rs16939851	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16939913	1.00[EUR][1000 genomes]
rs2542173	1.00[EUR][1000 genomes]
rs28436108	1.00[EUR][1000 genomes]
rs2847263	1.00[EUR][1000 genomes]
rs2847264	1.00[EUR][1000 genomes]
rs28579212	1.00[EUR][1000 genomes]
rs57580816	1.00[EUR][1000 genomes]
rs58839955	1.00[EUR][1000 genomes]
rs59434054	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7229440	1.00[EUR][1000 genomes]
rs7236539	1.00[EUR][1000 genomes]
rs7240157	1.00[EUR][1000 genomes]
rs73407719	1.00[EUR][1000 genomes]
rs73407722	1.00[EUR][1000 genomes]
rs73407750	1.00[EUR][1000 genomes]
rs73407763	1.00[EUR][1000 genomes]
rs73407884	1.00[EUR][1000 genomes]
rs73416976	1.00[EUR][1000 genomes]
rs73419110	1.00[EUR][1000 genomes]
rs8083404	1.00[EUR][1000 genomes]
rs8087452	1.00[EUR][1000 genomes]
rs8099254	1.00[EUR][1000 genomes]
rs908577	1.00[EUR][1000 genomes]
rs9946422	1.00[EUR][1000 genomes]
rs9951546	1.00[EUR][1000 genomes]
rs9953795	1.00[EUR][1000 genomes]
rs9958518	1.00[EUR][1000 genomes]
rs9965936	1.00[EUR][1000 genomes]
rs9966740	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063125	chr18:12046892-12918251	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	130 gene(s)	inside rSNPs	diseases
2	esv3528039	chr18:12396582-12851293	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
3	esv3528041	chr18:12396641-12851245	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
4	nsv1062014	chr18:12687210-13183383	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
5	nsv543655	chr18:12687210-13183383	Flanking Bivalent TSS/Enh Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
6	nsv1064273	chr18:12697601-12828251	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv1062149	chr18:12728115-12783898	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv1064844	chr18:12748045-12953235	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	68 gene(s)	inside rSNPs	diseases
9	nsv543656	chr18:12748045-12953235	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	68 gene(s)	inside rSNPs	diseases
10	esv275378	chr18:12779947-12783335	Enhancers Weak transcription Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12767400-12815800	Weak transcription	Gastric	stomach
2	chr18:12776000-12793600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr18:12776200-12785800	Weak transcription	Primary T cells from cord blood	blood
4	chr18:12776200-12791600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr18:12776200-12792600	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr18:12776200-12793800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr18:12776200-12793800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr18:12776200-12794000	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr18:12776200-12800800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr18:12776400-12800000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr18:12776800-12788600	Weak transcription	Dnd41	blood
12	chr18:12776800-12819800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr18:12777400-12791400	Weak transcription	Left Ventricle	heart
14	chr18:12777600-12788600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr18:12777600-12791800	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr18:12777800-12785000	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr18:12777800-12788600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr18:12777800-12791600	Weak transcription	Primary B cells from cord blood	blood
19	chr18:12777800-12791600	Weak transcription	Liver	Liver
20	chr18:12777800-12838200	Weak transcription	Colonic Mucosa	Colon
21	chr18:12778000-12788600	Weak transcription	Lung	lung
22	chr18:12778000-12792800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr18:12778000-12801200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr18:12778200-12797600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr18:12779800-12783600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr18:12781200-12794200	Weak transcription	Spleen	Spleen
27	chr18:12781400-12786800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr18:12782000-12811200	Weak transcription	Right Ventricle	heart
29	chr18:12782200-12784400	Enhancers	HepG2	liver
30	chr18:12782200-12786000	Strong transcription	Thymus	Thymus
31	chr18:12782200-12794000	Weak transcription	Fetal Muscle Leg	muscle
32	chr18:12782400-12789000	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr18:12782600-12784200	Enhancers	HMEC	breast
34	chr18:12782600-12794000	Weak transcription	HSMMtube	muscle
35	chr18:12782800-12783600	Weak transcription	Fetal Thymus	thymus
36	chr18:12782800-12784000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr18:12782800-12784000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr18:12782800-12784000	Enhancers	NHEK	skin
39	chr18:12783000-12788800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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