Variant report

Variant	rs56404048
Chromosome Location	chr3:45633865-45633866
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	chr3:45633319..45635979-chr3:45730654..45733498,2	MCF-7	breast:
2	chr3:45631296..45634454-chr3:45636131..45638257,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000211456	Chromatin interaction
ENSG00000144791	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs13316599	1.00[AMR][1000 genomes]
rs57013034	1.00[AMR][1000 genomes]
rs58213273	0.83[AMR][1000 genomes]
rs6778381	0.83[AMR][1000 genomes]
rs6780893	0.83[AMR][1000 genomes]
rs72882544	0.83[AMR][1000 genomes]
rs73830443	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73830463	1.00[AMR][1000 genomes]
rs9827350	0.83[AMR][1000 genomes]
rs9850601	0.83[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	esv34130	chr3:45609075-45796657	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:45621600-45634000	Weak transcription	Primary B cells from cord blood	blood
2	chr3:45625200-45634000	Weak transcription	Right Ventricle	heart
3	chr3:45625200-45634600	Weak transcription	Right Atrium	heart
4	chr3:45625400-45634400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr3:45625800-45634400	Weak transcription	Brain Substantia Nigra	brain
6	chr3:45627400-45634200	Weak transcription	Brain Anterior Caudate	brain
7	chr3:45627600-45634400	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr3:45628800-45634600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr3:45631600-45634600	Weak transcription	Thymus	Thymus
10	chr3:45631800-45634400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr3:45631800-45634600	Weak transcription	HSMMtube	muscle
12	chr3:45632000-45634000	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr3:45632000-45634400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr3:45632000-45634400	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr3:45632000-45634600	Weak transcription	Psoas Muscle	Psoas
16	chr3:45632400-45634000	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr3:45632600-45634600	Enhancers	Primary T cells fromperipheralblood	blood
18	chr3:45632800-45634000	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr3:45632800-45634000	Weak transcription	Placenta	Placenta
20	chr3:45632800-45634400	Weak transcription	Fetal Heart	heart
21	chr3:45632800-45634400	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr3:45632800-45634600	Enhancers	Fetal Lung	lung
23	chr3:45633000-45634000	Weak transcription	Fetal Thymus	thymus
24	chr3:45633000-45634000	Weak transcription	GM12878-XiMat	blood
25	chr3:45633000-45634400	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr3:45633000-45634400	Weak transcription	HepG2	liver
27	chr3:45633200-45634400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr3:45633400-45634400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr3:45633400-45634400	Weak transcription	Fetal Muscle Trunk	muscle
30	chr3:45633400-45634800	Weak transcription	Lung	lung
31	chr3:45633600-45634400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr3:45633600-45634400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr3:45633800-45634600	Enhancers	Primary B cells from peripheral blood	blood
34	chr3:45633800-45634600	Enhancers	Primary T cells from cord blood	blood
35	chr3:45633800-45634600	Enhancers	Primary T killer memory cells from peripheral blood	blood
36	chr3:45633800-45634600	Enhancers	Fetal Muscle Leg	muscle

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