Variant report

Variant	rs9307223
Chromosome Location	chr4:77872384-77872385
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:77811598..77821650-chr4:77868111..77874552,20	MCF-7	breast:
2	chr20:52214476..52217270-chr4:77871482..77873296,2	MCF-7	breast:
3	chr4:77870359..77873653-chr4:77995177..77998877,4	MCF-7	breast:
4	chr4:77722942..77724770-chr4:77870887..77873715,2	K562	blood:
5	chr4:77814951..77820561-chr4:77867172..77873456,14	MCF-7	breast:
6	chr4:77809977..77812927-chr4:77871219..77873775,2	K562	blood:
7	chr4:77872181..77874980-chr4:78778372..78781139,2	MCF-7	breast:
8	chr4:77869381..77872390-chr4:77908279..77910194,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000242727	Chromatin interaction
ENSG00000224218	Chromatin interaction
ENSG00000138758	Chromatin interaction
ENSG00000118816	Chromatin interaction
ENSG00000186212	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10000055	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10002970	1.00[AMR][1000 genomes]
rs10003222	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10006616	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10013521	1.00[AMR][1000 genomes]
rs10017180	1.00[AMR][1000 genomes]
rs10017391	1.00[AMR][1000 genomes]
rs10024538	1.00[AMR][1000 genomes]
rs10049647	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10518161	1.00[AMR][1000 genomes]
rs17002303	1.00[AMR][1000 genomes]
rs17002311	1.00[AMR][1000 genomes]
rs17002313	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17002323	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28638241	1.00[AMR][1000 genomes]
rs28639925	1.00[AMR][1000 genomes]
rs28657683	1.00[AMR][1000 genomes]
rs28670872	1.00[AMR][1000 genomes]
rs28681642	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28682963	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28697276	1.00[AMR][1000 genomes]
rs9884835	1.00[AMR][1000 genomes]
rs9991713	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9992021	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829973	chr4:77684251-77877361	Genic enhancers Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	esv1810313	chr4:77778670-77902099	Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:77868000-77874000	Active TSS	Fetal Brain Female	brain
2	chr4:77868000-77874200	Active TSS	NHLF	lung
3	chr4:77868200-77872800	Active TSS	HSMM	muscle
4	chr4:77868400-77873400	Active TSS	Fetal Kidney	kidney
5	chr4:77868400-77873600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr4:77868600-77873600	Active TSS	NHDF-Ad	bronchial
7	chr4:77869000-77872600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr4:77869200-77872400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr4:77869200-77872800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr4:77869400-77872600	Active TSS	H9 Cell Line	embryonic stem cell
11	chr4:77869400-77872600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr4:77869400-77872600	Active TSS	Breast Myoepithelial Primary Cells	Breast
13	chr4:77869400-77872800	Active TSS	A549	lung
14	chr4:77869400-77873400	Active TSS	Brain Inferior Temporal Lobe	brain
15	chr4:77869400-77873400	Active TSS	Psoas Muscle	Psoas
16	chr4:77869600-77872400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr4:77869600-77872600	Active TSS	Colon Smooth Muscle	Colon
18	chr4:77869600-77872600	Active TSS	Pancreatic Islets	Pancreatic Islet
19	chr4:77869600-77872600	Active TSS	Left Ventricle	heart
20	chr4:77869600-77872600	Active TSS	Osteobl	bone
21	chr4:77869600-77872800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
22	chr4:77869600-77872800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
23	chr4:77869600-77872800	Active TSS	Aorta	Aorta
24	chr4:77869600-77872800	Active TSS	Brain Cingulate Gyrus	brain
25	chr4:77869600-77872800	Active TSS	Ovary	ovary
26	chr4:77869600-77873200	Active TSS	Brain Anterior Caudate	brain
27	chr4:77869600-77873200	Active TSS	Right Atrium	heart
28	chr4:77869600-77873600	Active TSS	Brain Angular Gyrus	brain
29	chr4:77869600-77873800	Active TSS	HSMMtube	muscle
30	chr4:77869800-77872400	Active TSS	iPS-15b Cell Line	embryonic stem cell
31	chr4:77869800-77872400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr4:77869800-77872400	Active TSS	Small Intestine	intestine
33	chr4:77869800-77872600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr4:77869800-77872600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr4:77869800-77872600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr4:77869800-77872600	Active TSS	Muscle Satellite Cultured Cells	--
37	chr4:77869800-77872600	Active TSS	Brain Substantia Nigra	brain
38	chr4:77869800-77872600	Active TSS	Gastric	stomach
39	chr4:77869800-77872600	Active TSS	Placenta Amnion	Placenta Amnion
40	chr4:77869800-77872800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr4:77869800-77872800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr4:77869800-77873000	Active TSS	Rectal Smooth Muscle	rectum
43	chr4:77869800-77873400	Active TSS	Fetal Stomach	stomach
44	chr4:77869800-77873800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr4:77870000-77872400	Active TSS	Stomach Mucosa	stomach
46	chr4:77870000-77872400	Active TSS	Spleen	Spleen
47	chr4:77870000-77872400	Active TSS	HUVEC	blood vessel
48	chr4:77870000-77872400	Active TSS	NHEK	skin
49	chr4:77870000-77872600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr4:77870000-77872600	Flanking Active TSS	Primary B cells from cord blood	blood

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