Variant report

Variant	rs7448996
Chromosome Location	chr5:54140894-54140895
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:53812998..53813820-chr5:54140681..54141643,5	K562	blood:
2	chr5:53812974..53814247-chr5:54140692..54141615,7	MCF-7	breast:
3	chr5:53813794..53815703-chr5:54138497..54141381,2	K562	blood:

Variant related genes	Relation type
ENSG00000178996	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10036257	0.83[EUR][1000 genomes]
rs10042394	0.86[EUR][1000 genomes]
rs10045175	0.83[EUR][1000 genomes]
rs10045765	0.86[EUR][1000 genomes]
rs10053168	0.81[EUR][1000 genomes]
rs10057871	0.86[EUR][1000 genomes]
rs10058571	0.83[EUR][1000 genomes]
rs10066622	0.83[EUR][1000 genomes]
rs10073662	0.81[EUR][1000 genomes]
rs10073721	0.81[EUR][1000 genomes]
rs10471923	0.83[EUR][1000 genomes]
rs1073709	0.86[EUR][1000 genomes]
rs10737956	0.83[EUR][1000 genomes]
rs10805463	0.83[EUR][1000 genomes]
rs10940428	0.83[EUR][1000 genomes]
rs12514244	0.84[EUR][1000 genomes]
rs12522199	0.86[EUR][1000 genomes]
rs13155441	0.83[EUR][1000 genomes]
rs13167527	0.85[EUR][1000 genomes]
rs13180287	0.83[EUR][1000 genomes]
rs1991498	0.81[ASN][1000 genomes]
rs3935813	1.00[ASN][1000 genomes]
rs4074332	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4242045	0.83[EUR][1000 genomes]
rs4242048	0.86[EUR][1000 genomes]
rs4290968	0.83[EUR][1000 genomes]
rs4315891	0.89[ASN][1000 genomes]
rs4336310	0.83[EUR][1000 genomes]
rs4362906	0.86[EUR][1000 genomes]
rs4373237	0.91[ASN][1000 genomes]
rs4407587	0.89[ASN][1000 genomes]
rs4446420	0.90[ASN][1000 genomes]
rs4451013	0.86[EUR][1000 genomes]
rs4457032	0.83[EUR][1000 genomes]
rs4519880	0.83[EUR][1000 genomes]
rs4591702	0.86[EUR][1000 genomes]
rs4610422	0.86[EUR][1000 genomes]
rs4865586	0.90[ASN][1000 genomes]
rs4865587	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4865873	0.83[EUR][1000 genomes]
rs4865874	0.83[EUR][1000 genomes]
rs4865875	0.86[EUR][1000 genomes]
rs6450251	0.83[EUR][1000 genomes]
rs6450252	0.83[EUR][1000 genomes]
rs6860824	0.99[ASN][1000 genomes]
rs6891667	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6893903	0.96[ASN][1000 genomes]
rs7446423	0.86[EUR][1000 genomes]
rs7708368	0.86[ASN][1000 genomes]
rs7728303	0.83[EUR][1000 genomes]
rs9292073	0.81[EUR][1000 genomes]
rs9292074	0.86[EUR][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	nsv830300	chr5:54056300-54257344	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	esv3358092	chr5:54077828-54189150	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:54138400-54142000	Enhancers	NHLF	lung
2	chr5:54139600-54142000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr5:54140000-54141600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:54140000-54141800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr5:54140200-54141000	Enhancers	NH-A	brain
6	chr5:54140200-54141200	Enhancers	Primary B cells from cord blood	blood
7	chr5:54140200-54141800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr5:54140400-54141000	Enhancers	Aorta	Aorta
9	chr5:54140400-54141000	Active TSS	Colonic Mucosa	Colon
10	chr5:54140400-54141200	Active TSS	Brain Substantia Nigra	brain
11	chr5:54140400-54141800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr5:54140400-54141800	Enhancers	Osteobl	bone
13	chr5:54140400-54142000	Enhancers	HSMMtube	muscle
14	chr5:54140600-54141000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr5:54140600-54141000	Weak transcription	HSMM	muscle
16	chr5:54140600-54141200	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr5:54140600-54141200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr5:54140600-54141200	Active TSS	Brain Hippocampus Middle	brain
19	chr5:54140600-54141400	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr5:54140800-54141000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr5:54140800-54141000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
22	chr5:54140800-54141000	Flanking Active TSS	Liver	Liver
23	chr5:54140800-54141000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
24	chr5:54140800-54141000	Flanking Active TSS	Fetal Kidney	kidney
25	chr5:54140800-54141000	Enhancers	Fetal Muscle Trunk	muscle
26	chr5:54140800-54141000	Enhancers	Fetal Muscle Leg	muscle
27	chr5:54140800-54141000	Flanking Active TSS	Ovary	ovary
28	chr5:54140800-54141000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
29	chr5:54140800-54141000	Flanking Active TSS	NHDF-Ad	bronchial
30	chr5:54140800-54141200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr5:54140800-54141200	Enhancers	Primary B cells from peripheral blood	blood
32	chr5:54140800-54141200	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr5:54140800-54141200	Enhancers	Primary T killer memory cells from peripheral blood	blood
34	chr5:54140800-54141200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr5:54140800-54141200	Flanking Active TSS	Adipose Nuclei	Adipose
36	chr5:54140800-54141200	Flanking Active TSS	Brain Anterior Caudate	brain
37	chr5:54140800-54141200	Active TSS	Brain Cingulate Gyrus	brain
38	chr5:54140800-54141200	Active TSS	Brain Inferior Temporal Lobe	brain
39	chr5:54140800-54141200	Active TSS	Colon Smooth Muscle	Colon
40	chr5:54140800-54141200	Active TSS	Duodenum Mucosa	Duodenum
41	chr5:54140800-54141200	Active TSS	Duodenum Smooth Muscle	Duodenum
42	chr5:54140800-54141200	Enhancers	Fetal Heart	heart
43	chr5:54140800-54141200	Enhancers	Fetal Intestine Large	intestine
44	chr5:54140800-54141200	Active TSS	Psoas Muscle	Psoas
45	chr5:54140800-54141200	Active TSS	Rectal Mucosa Donor 29	rectum
46	chr5:54140800-54141200	Active TSS	Skeletal Muscle Male	skeletal muscle
47	chr5:54140800-54141200	Active TSS	Skeletal Muscle Female	skeletal muscle
48	chr5:54140800-54141200	Active TSS	Stomach Smooth Muscle	stomach
49	chr5:54140800-54141200	Active TSS	A549	lung
50	chr5:54140800-54141200	Active TSS	GM12878-XiMat	blood

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