Variant report

Variant	rs7226301
Chromosome Location	chr17:45304365-45304366
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:45298839..45301217-chr17:45302235..45304685,3	K562	blood:
2	chr17:45303629..45305647-chr17:45399449..45401720,2	K562	blood:
3	chr17:45302596..45304693-chr17:45393589..45396501,2	MCF-7	breast:
4	chr17:45298890..45301217-chr17:45302235..45305116,3	K562	blood:
5	chr17:45300506..45304139-chr17:45304220..45308207,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000263293	Chromatin interaction
ENSG00000178852	Chromatin interaction

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

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

rs_ID	r²[population]
rs11570469	1.00[AMR][1000 genomes]
rs11869037	0.87[AFR][1000 genomes]
rs57661742	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58260762	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59764111	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60947665	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61255112	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61335303	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6504778	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7213590	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7217466	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73314394	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73314397	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73314399	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73316005	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73316007	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73316010	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73316013	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73316024	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73316035	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73316039	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73316047	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73316050	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73316051	0.87[AFR][1000 genomes]
rs73317687	1.00[AMR][1000 genomes]
rs73319518	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73319525	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73319528	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73319530	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73319536	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73327177	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73327180	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73327183	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73327187	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73327190	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73327192	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73327197	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73327198	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73329106	1.00[AMR][1000 genomes]
rs73329111	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73329112	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8071472	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8078960	1.00[AFR][1000 genomes];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	nsv1062983	chr17:45030095-45789543	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45296400-45305000	Enhancers	Spleen	Spleen
2	chr17:45298400-45307000	Weak transcription	Fetal Lung	lung
3	chr17:45298400-45307400	Weak transcription	Fetal Brain Female	brain
4	chr17:45301000-45307000	Weak transcription	Fetal Muscle Trunk	muscle
5	chr17:45301400-45306800	Weak transcription	Lung	lung
6	chr17:45302400-45307800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr17:45302600-45306800	Weak transcription	Right Ventricle	heart
8	chr17:45302800-45307000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr17:45302800-45307000	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr17:45303000-45307000	Weak transcription	Fetal Intestine Large	intestine
11	chr17:45303200-45306800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr17:45303200-45306800	Weak transcription	Colonic Mucosa	Colon
13	chr17:45303200-45307000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr17:45303200-45307000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr17:45303200-45307000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr17:45303200-45307000	Weak transcription	Placenta	Placenta
17	chr17:45303200-45307000	Weak transcription	A549	lung
18	chr17:45303200-45307000	Weak transcription	HSMM	muscle
19	chr17:45303200-45307000	Weak transcription	HSMMtube	muscle
20	chr17:45303200-45307400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr17:45303400-45304800	Enhancers	HUVEC	blood vessel
22	chr17:45303400-45306800	Weak transcription	K562	blood
23	chr17:45303400-45307000	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr17:45303400-45307000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr17:45303400-45307200	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr17:45303400-45309400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr17:45303600-45306800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr17:45303600-45306800	Weak transcription	Fetal Stomach	stomach
29	chr17:45303600-45306800	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr17:45303600-45307000	Weak transcription	Brain Substantia Nigra	brain
31	chr17:45303600-45307000	Weak transcription	Fetal Kidney	kidney
32	chr17:45303600-45307000	Weak transcription	HMEC	breast
33	chr17:45303600-45307200	Weak transcription	NHEK	skin
34	chr17:45303800-45305200	Weak transcription	Fetal Heart	heart
35	chr17:45303800-45306800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr17:45303800-45306800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr17:45303800-45306800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr17:45303800-45306800	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr17:45303800-45306800	Weak transcription	Liver	Liver
40	chr17:45303800-45306800	Weak transcription	Brain Angular Gyrus	brain
41	chr17:45303800-45306800	Weak transcription	Colon Smooth Muscle	Colon
42	chr17:45303800-45306800	Weak transcription	Fetal Intestine Small	intestine
43	chr17:45303800-45306800	Weak transcription	Fetal Muscle Leg	muscle
44	chr17:45303800-45306800	Weak transcription	Rectal Smooth Muscle	rectum
45	chr17:45303800-45306800	Weak transcription	NHDF-Ad	bronchial
46	chr17:45303800-45307000	Weak transcription	Monocytes-CD14+_RO01746	blood
47	chr17:45303800-45309800	Weak transcription	Small Intestine	intestine
48	chr17:45304000-45306800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr17:45304000-45306800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr17:45304000-45306800	Weak transcription	Brain Anterior Caudate	brain

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