Variant report

Variant	rs28454186
Chromosome Location	chr4:148692978-148692979
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:148691338..148693292-chr4:148693665..148695844,2	MCF-7	breast:
2	chr4:148682484..148684278-chr4:148691381..148693216,2	MCF-7	breast:
3	chr4:148649361..148653898-chr4:148687606..148694872,6	MCF-7	breast:
4	chr4:148692638..148695831-chr4:148697652..148700222,4	MCF-7	breast:
5	chr4:148692827..148694690-chr4:148699168..148701568,2	K562	blood:

Variant related genes	Relation type
ENSG00000071205	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10002113	1.00[AMR][1000 genomes]
rs10003056	1.00[AMR][1000 genomes]
rs10004457	1.00[AMR][1000 genomes]
rs10004995	1.00[AMR][1000 genomes]
rs10005261	1.00[AMR][1000 genomes]
rs10016720	1.00[AMR][1000 genomes]
rs10016881	1.00[AMR][1000 genomes]
rs10019799	1.00[AMR][1000 genomes]
rs1436492	1.00[AMR][1000 genomes]
rs17023769	1.00[AMR][1000 genomes]
rs28438925	1.00[AMR][1000 genomes]
rs28510261	1.00[AMR][1000 genomes]
rs28516760	1.00[AMR][1000 genomes]
rs7699081	1.00[AMR][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	nsv1028958	chr4:148377752-148793485	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv498083	chr4:148519825-148917583	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
3	nsv880242	chr4:148659137-148727355	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	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	chr4:148670200-148693200	Weak transcription	Esophagus	oesophagus
2	chr4:148678000-148693200	Weak transcription	Adipose Nuclei	Adipose
3	chr4:148679200-148693000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr4:148679200-148693000	Weak transcription	Aorta	Aorta
5	chr4:148679200-148696400	Weak transcription	Lung	lung
6	chr4:148682200-148693000	Weak transcription	Fetal Muscle Trunk	muscle
7	chr4:148684400-148693600	Weak transcription	Fetal Kidney	kidney
8	chr4:148686000-148693000	Weak transcription	Ovary	ovary
9	chr4:148687200-148696400	Weak transcription	Right Ventricle	heart
10	chr4:148688800-148693400	Enhancers	HUVEC	blood vessel
11	chr4:148689000-148693200	Enhancers	NHEK	skin
12	chr4:148689400-148693000	Weak transcription	Fetal Intestine Large	intestine
13	chr4:148689400-148693000	Weak transcription	Pancreas	Pancrea
14	chr4:148689400-148693000	Weak transcription	Small Intestine	intestine
15	chr4:148689400-148698000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr4:148689600-148693000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr4:148689600-148693000	Weak transcription	Gastric	stomach
18	chr4:148689600-148693000	Weak transcription	Rectal Smooth Muscle	rectum
19	chr4:148689600-148693200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr4:148689600-148693200	Weak transcription	Colon Smooth Muscle	Colon
21	chr4:148689600-148693400	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr4:148689600-148700200	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr4:148689800-148699400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr4:148689800-148700400	Weak transcription	Primary hematopoietic stem cells	blood
25	chr4:148690400-148695000	Enhancers	Fetal Heart	heart
26	chr4:148691000-148693800	Enhancers	Left Ventricle	heart
27	chr4:148691200-148693200	Weak transcription	A549	lung
28	chr4:148691200-148695600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr4:148691200-148696800	Enhancers	Psoas Muscle	Psoas
30	chr4:148691400-148693200	Weak transcription	GM12878-XiMat	blood
31	chr4:148691400-148693200	Weak transcription	HMEC	breast
32	chr4:148691400-148694600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr4:148691400-148697800	Enhancers	Fetal Intestine Small	intestine
34	chr4:148691600-148693000	Enhancers	HSMM	muscle
35	chr4:148691600-148693200	Enhancers	NHLF	lung
36	chr4:148691800-148694200	Enhancers	Fetal Muscle Leg	muscle
37	chr4:148692000-148693200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr4:148692000-148693200	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr4:148692200-148693000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr4:148692200-148693200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr4:148692200-148693200	Weak transcription	Stomach Smooth Muscle	stomach
42	chr4:148692200-148696800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr4:148692400-148693200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr4:148692400-148697600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr4:148692600-148693400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr4:148692600-148693800	Enhancers	Duodenum Mucosa	Duodenum
47	chr4:148692800-148693000	Enhancers	Muscle Satellite Cultured Cells	--
48	chr4:148692800-148693200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr4:148692800-148693200	Enhancers	Skeletal Muscle Female	skeletal muscle
50	chr4:148692800-148693200	Enhancers	HSMMtube	muscle

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