Variant report

Variant	rs2663253
Chromosome Location	chr4:126289885-126289886
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	chr4:126288480..126290210-chr4:126292006..126293653,2	MCF-7	breast:

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10012726	1.00[AMR][1000 genomes]
rs10029125	1.00[AMR][1000 genomes]
rs10857105	0.81[AFR][1000 genomes]
rs11733424	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11942648	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12711125	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1396700	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1509288	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1509293	0.81[AFR][1000 genomes]
rs1509294	0.81[AFR][1000 genomes]
rs1509295	0.81[AFR][1000 genomes]
rs1509296	0.81[AFR][1000 genomes]
rs1509297	0.81[AFR][1000 genomes]
rs1509298	0.81[AFR][1000 genomes]
rs1509301	0.81[AFR][1000 genomes]
rs1605825	0.81[AFR][1000 genomes]
rs1605826	0.81[AFR][1000 genomes]
rs1605827	0.81[AFR][1000 genomes]
rs2055768	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2102461	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2457262	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2663258	1.00[AMR][1000 genomes]
rs2663262	1.00[AMR][1000 genomes]
rs2663284	1.00[AMR][1000 genomes]
rs2710537	1.00[AMR][1000 genomes]
rs2710565	1.00[AMR][1000 genomes]
rs2710577	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2710581	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2710585	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2710586	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2710588	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28470542	1.00[AMR][1000 genomes]
rs28871071	1.00[AMR][1000 genomes]
rs4834029	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6844307	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7660088	0.81[AFR][1000 genomes]
rs7660325	0.81[AFR][1000 genomes]
rs906793	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs906794	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs925244	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	nsv1006068	chr4:126103233-126497467	Enhancers ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
2	nsv830051	chr4:126234895-126403426	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:126282600-126293000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr4:126288800-126290400	Enhancers	Fetal Heart	heart
3	chr4:126289200-126290400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr4:126289200-126290400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr4:126289200-126290800	Flanking Active TSS	HUVEC	blood vessel
6	chr4:126289400-126290000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr4:126289400-126290200	Active TSS	Right Ventricle	heart
8	chr4:126289400-126290200	Active TSS	Osteobl	bone
9	chr4:126289400-126290600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr4:126289600-126290000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr4:126289600-126290000	Active TSS	Fetal Brain Female	brain
12	chr4:126289600-126290000	Active TSS	NHDF-Ad	bronchial
13	chr4:126289600-126290200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr4:126289600-126290200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr4:126289600-126290200	Active TSS	Muscle Satellite Cultured Cells	--
16	chr4:126289600-126290200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr4:126289600-126290200	Active TSS	Liver	Liver
18	chr4:126289600-126290200	Active TSS	NHLF	lung
19	chr4:126289600-126290800	Enhancers	Fetal Brain Male	brain
20	chr4:126289600-126291000	Active TSS	Stomach Smooth Muscle	stomach
21	chr4:126289800-126290000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
22	chr4:126289800-126290000	Flanking Active TSS	NH-A	brain
23	chr4:126289800-126290200	Active TSS	Cortex derived primary cultured neurospheres	brain
24	chr4:126289800-126290200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr4:126289800-126290200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr4:126289800-126290200	Active TSS	Adipose Nuclei	Adipose
27	chr4:126289800-126290200	Active TSS	Brain Angular Gyrus	brain
28	chr4:126289800-126290200	Active TSS	Brain Anterior Caudate	brain
29	chr4:126289800-126290200	Active TSS	Brain Cingulate Gyrus	brain
30	chr4:126289800-126290200	Active TSS	Brain Hippocampus Middle	brain
31	chr4:126289800-126290200	Active TSS	Colon Smooth Muscle	Colon
32	chr4:126289800-126290200	Active TSS	Fetal Lung	lung
33	chr4:126289800-126290200	Active TSS	Fetal Muscle Leg	muscle
34	chr4:126289800-126290200	Active TSS	Fetal Stomach	stomach
35	chr4:126289800-126290200	Active TSS	Ovary	ovary
36	chr4:126289800-126290200	Active TSS	Psoas Muscle	Psoas
37	chr4:126289800-126290200	Active TSS	Rectal Smooth Muscle	rectum
38	chr4:126289800-126290200	Active TSS	Hela-S3	cervix
39	chr4:126289800-126290200	Active TSS	HSMM	muscle
40	chr4:126289800-126290200	Active TSS	HSMMtube	muscle
41	chr4:126289800-126290200	Active TSS	NHEK	skin
42	chr4:126289800-126290400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr4:126289800-126290400	Active TSS	Aorta	Aorta
44	chr4:126289800-126290400	Active TSS	Brain Inferior Temporal Lobe	brain
45	chr4:126289800-126290400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
46	chr4:126289800-126290400	Active TSS	Brain Substantia Nigra	brain
47	chr4:126289800-126290400	Active TSS	Pancreatic Islets	Pancreatic Islet
48	chr4:126289800-126290400	Active TSS	Right Atrium	heart
49	chr4:126289800-126290400	Active TSS	Skeletal Muscle Female	skeletal muscle
50	chr4:126289800-126290400	Active TSS	A549	lung

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