Variant report

Variant	rs58234592
Chromosome Location	chr4:148811903-148811904
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:148805327..148807342-chr4:148810157..148812638,2	MCF-7	breast:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs57640571	1.00[AMR][1000 genomes]
rs58443426	1.00[AMR][1000 genomes]
rs58740360	1.00[AMR][1000 genomes]
rs58929565	1.00[AMR][1000 genomes]
rs59178803	1.00[AMR][1000 genomes]
rs59613700	1.00[AMR][1000 genomes]
rs72957775	1.00[AMR][1000 genomes]
rs72957780	1.00[AMR][1000 genomes]
rs72957793	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv880243	chr4:148735644-148879583	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv880244	chr4:148764252-148920089	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1029845	chr4:148766290-148916437	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv1030001	chr4:148773479-148916437	Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:148768400-148815600	Weak transcription	Primary T cells from cord blood	blood
2	chr4:148777000-148823000	Weak transcription	Small Intestine	intestine
3	chr4:148786000-148861400	Weak transcription	Pancreas	Pancrea
4	chr4:148794800-148824600	Weak transcription	A549	lung
5	chr4:148796800-148812800	Weak transcription	Rectal Smooth Muscle	rectum
6	chr4:148796800-148863200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr4:148796800-148866000	Weak transcription	Thymus	Thymus
8	chr4:148797000-148812000	Weak transcription	Fetal Kidney	kidney
9	chr4:148797000-148834200	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr4:148797000-148835800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr4:148797400-148812400	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr4:148797400-148814400	Weak transcription	NH-A	brain
13	chr4:148797400-148815400	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr4:148797400-148879600	Weak transcription	Gastric	stomach
15	chr4:148797600-148815200	Weak transcription	Fetal Lung	lung
16	chr4:148797600-148820000	Weak transcription	Right Ventricle	heart
17	chr4:148797600-148820200	Weak transcription	Osteobl	bone
18	chr4:148797600-148824600	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr4:148801600-148817600	Weak transcription	HMEC	breast
20	chr4:148801800-148830200	Weak transcription	NHEK	skin
21	chr4:148802400-148815600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr4:148802600-148813400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr4:148804200-148812000	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr4:148804600-148854400	Weak transcription	Psoas Muscle	Psoas
25	chr4:148805200-148824200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr4:148806200-148818000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr4:148806200-148824200	Weak transcription	HSMMtube	muscle
28	chr4:148806400-148813400	Weak transcription	Colon Smooth Muscle	Colon
29	chr4:148806400-148813400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr4:148806400-148820000	Weak transcription	Esophagus	oesophagus
31	chr4:148806400-148824200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr4:148806600-148823200	Weak transcription	Fetal Stomach	stomach
33	chr4:148806600-148824200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr4:148806800-148816600	Weak transcription	Fetal Intestine Small	intestine
35	chr4:148806800-148821000	Weak transcription	NHLF	lung
36	chr4:148807000-148812600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr4:148807200-148824000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr4:148807400-148814200	Strong transcription	HSMM	muscle
39	chr4:148807800-148815200	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr4:148807800-148815600	Weak transcription	Fetal Intestine Large	intestine
41	chr4:148807800-148820200	Weak transcription	NHDF-Ad	bronchial
42	chr4:148808800-148819800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr4:148809200-148824200	Weak transcription	Lung	lung
44	chr4:148809400-148813800	Weak transcription	Fetal Muscle Trunk	muscle
45	chr4:148809400-148819800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr4:148809600-148812400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr4:148809600-148813800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr4:148809600-148820000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr4:148810200-148824800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr4:148810400-148815400	Weak transcription	Adipose Nuclei	Adipose

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