Variant report

Variant	rs72880405
Chromosome Location	chr4:95542771-95542772
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:95534403..95536137-chr4:95542139..95543851,2	K562	blood:
2	chr4:95542429..95543413-chr4:95652714..95653349,2	K562	blood:
3	chr4:95542343..95543745-chr4:95652280..95653536,4	MCF-7	breast:
4	chr4:95540920..95543603-chr4:95558219..95560946,2	K562	blood:
5	chr4:95542351..95543272-chr4:95611621..95612326,2	MCF-7	breast:
6	chr4:95542312..95543323-chr4:95652604..95653594,9	MCF-7	breast:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10516949	1.00[EUR][1000 genomes]
rs11934623	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11943494	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17021743	1.00[EUR][1000 genomes]
rs17021819	1.00[EUR][1000 genomes]
rs17021820	1.00[EUR][1000 genomes]
rs17021884	1.00[EUR][1000 genomes]
rs17021906	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4392514	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56955132	1.00[EUR][1000 genomes]
rs57569167	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57981938	1.00[EUR][1000 genomes]
rs60223269	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61477568	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61628216	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6825392	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6825799	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6826138	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6849063	1.00[EUR][1000 genomes]
rs6851080	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72878415	1.00[EUR][1000 genomes]
rs72878481	1.00[EUR][1000 genomes]
rs72878484	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72878489	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72878495	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72878497	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72878499	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72880403	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72880404	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72880406	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72880407	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72890410	1.00[EUR][1000 genomes]
rs7684833	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932216	chr4:95501261-96109807	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1003860	chr4:95507683-96120619	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats 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 miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv869528	chr4:95537649-96368018	Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:95493200-95584800	Weak transcription	Primary B cells from cord blood	blood
2	chr4:95497200-95553000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr4:95497200-95569400	Weak transcription	Esophagus	oesophagus
4	chr4:95507200-95548200	Weak transcription	Psoas Muscle	Psoas
5	chr4:95507200-95548600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr4:95511200-95554800	Weak transcription	NHDF-Ad	bronchial
7	chr4:95514400-95544600	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr4:95515000-95562000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr4:95521600-95544400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr4:95525000-95569600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr4:95525000-95586400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr4:95525000-95590000	Weak transcription	Lung	lung
13	chr4:95525400-95562200	Weak transcription	NHLF	lung
14	chr4:95526600-95544800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr4:95526800-95551000	Weak transcription	Brain Anterior Caudate	brain
16	chr4:95527800-95592200	Weak transcription	Pancreas	Pancrea
17	chr4:95528000-95555000	Weak transcription	Aorta	Aorta
18	chr4:95532400-95544600	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr4:95532600-95544200	Weak transcription	HMEC	breast
20	chr4:95533800-95594200	Weak transcription	Gastric	stomach
21	chr4:95537000-95563000	Weak transcription	K562	blood
22	chr4:95537600-95573400	Weak transcription	Spleen	Spleen
23	chr4:95537600-95592800	Weak transcription	Fetal Stomach	stomach
24	chr4:95538000-95585200	Weak transcription	Colonic Mucosa	Colon
25	chr4:95538200-95555200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr4:95538200-95582600	Weak transcription	Hela-S3	cervix
27	chr4:95538200-95586600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr4:95538400-95545800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr4:95538600-95587000	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr4:95538800-95543600	Weak transcription	GM12878-XiMat	blood
31	chr4:95538800-95546600	Strong transcription	Osteobl	bone
32	chr4:95538800-95547800	Weak transcription	Brain Angular Gyrus	brain
33	chr4:95539000-95553600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr4:95539200-95545000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr4:95539400-95543800	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr4:95539800-95561000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr4:95540000-95544200	Weak transcription	Colon Smooth Muscle	Colon
38	chr4:95540000-95560600	Weak transcription	HepG2	liver
39	chr4:95540000-95566800	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr4:95540000-95587000	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr4:95540200-95545600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr4:95540200-95597800	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr4:95540400-95544200	Weak transcription	Fetal Heart	heart
44	chr4:95540400-95544600	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr4:95540400-95558600	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr4:95540400-95561400	Weak transcription	Primary T helper cells fromperipheralblood	blood
47	chr4:95540400-95570400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr4:95540600-95555000	Weak transcription	Ovary	ovary
49	chr4:95540800-95544200	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr4:95541000-95572600	Weak transcription	Small Intestine	intestine

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