Variant report

Variant	rs7240327
Chromosome Location	chr18:45435601-45435602
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:45435138..45437489-chr18:45437508..45439751,3	MCF-7	breast:
2	chr18:45423080..45425133-chr18:45433717..45436076,2	K562	blood:

Variant related genes	Relation type
ENSG00000175387	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs11872548	1.00[AMR][1000 genomes]
rs11875051	1.00[AMR][1000 genomes]
rs11875783	1.00[AMR][1000 genomes]
rs11877848	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12968971	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12969668	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16957829	1.00[EUR][1000 genomes]
rs16957841	1.00[EUR][1000 genomes]
rs28455633	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28465195	1.00[AMR][1000 genomes]
rs28622478	1.00[AMR][1000 genomes]
rs28683114	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28769310	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61238329	1.00[AMR][1000 genomes]
rs6507788	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7228619	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7233149	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7235743	1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73953631	1.00[AMR][1000 genomes]
rs73953632	1.00[AMR][1000 genomes]
rs73953633	1.00[AMR][1000 genomes]
rs8083042	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8084338	1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8085805	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8085921	0.85[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8087218	0.83[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8092786	1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs8096366	0.85[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8098860	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9945033	1.00[EUR][1000 genomes]
rs9947095	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9947563	1.00[EUR][1000 genomes]
rs9947712	1.00[AMR][1000 genomes]
rs9951883	1.00[AMR][1000 genomes]
rs9952115	0.85[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9952878	1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9952992	1.00[AMR][1000 genomes]
rs9957678	1.00[AMR][1000 genomes]
rs9958863	0.85[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9960371	1.00[EUR][1000 genomes]
rs9962367	1.00[EUR][1000 genomes]
rs9965552	0.83[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9965717	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv909614	chr18:45419421-45478490	Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:45420800-45439600	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr18:45421200-45436800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr18:45421800-45437800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr18:45423200-45438200	Weak transcription	Gastric	stomach
5	chr18:45423200-45451400	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr18:45426200-45438200	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr18:45428600-45438000	Weak transcription	K562	blood
8	chr18:45429600-45437800	Weak transcription	Right Atrium	heart
9	chr18:45429800-45435800	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr18:45429800-45438200	Weak transcription	Psoas Muscle	Psoas
11	chr18:45430600-45438200	Weak transcription	Esophagus	oesophagus
12	chr18:45430800-45438400	Weak transcription	Aorta	Aorta
13	chr18:45431000-45437800	Weak transcription	Left Ventricle	heart
14	chr18:45431000-45438000	Weak transcription	Fetal Heart	heart
15	chr18:45431000-45438200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr18:45431000-45438200	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr18:45431000-45438200	Weak transcription	Right Ventricle	heart
18	chr18:45431000-45438400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr18:45431000-45442800	Weak transcription	Lung	lung
20	chr18:45431200-45436000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr18:45431600-45438000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr18:45431800-45438200	Weak transcription	Stomach Smooth Muscle	stomach
23	chr18:45432200-45435800	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr18:45432400-45436000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr18:45432600-45437600	Weak transcription	Fetal Intestine Large	intestine
26	chr18:45432800-45436200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr18:45433200-45435800	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr18:45433200-45436000	Weak transcription	Brain Germinal Matrix	brain
29	chr18:45433200-45437400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr18:45433200-45437600	Weak transcription	Fetal Intestine Small	intestine
31	chr18:45433200-45437800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr18:45433200-45437800	Weak transcription	Adipose Nuclei	Adipose
33	chr18:45433200-45438200	Weak transcription	Ovary	ovary
34	chr18:45433200-45438200	Weak transcription	HMEC	breast
35	chr18:45433200-45438200	Weak transcription	NHEK	skin
36	chr18:45433200-45438600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr18:45433200-45438600	Weak transcription	Fetal Kidney	kidney
38	chr18:45433200-45439400	Weak transcription	Pancreas	Pancrea
39	chr18:45433200-45455000	Weak transcription	Fetal Stomach	stomach
40	chr18:45433200-45455400	Weak transcription	Fetal Brain Male	brain
41	chr18:45433400-45435800	Weak transcription	Brain Angular Gyrus	brain
42	chr18:45433400-45436800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr18:45433400-45437200	Weak transcription	Primary T cells fromperipheralblood	blood
44	chr18:45433400-45437800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr18:45433400-45438000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr18:45433400-45438000	Weak transcription	Duodenum Mucosa	Duodenum
47	chr18:45433400-45438000	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr18:45433400-45438200	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr18:45433400-45438200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr18:45433400-45438200	Strong transcription	Primary hematopoietic stem cells short term culture	blood

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