Variant report

Variant	rs17023827
Chromosome Location	chr4:148699277-148699278
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOSL1	chr4:148698553-148699279	HCT-116	colon:	n/a	chr4:148698821-148698831 chr4:148698821-148698830 chr4:148698820-148698831
2	SP1	chr4:148698556-148699300	HCT-116	colon:	n/a	chr4:148698861-148698874
3	CBX3	chr4:148698553-148699289	HCT-116	colon:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:148698864..148701739-chr4:148701803..148703521,2	MCF-7	breast:
2	chr4:148692638..148695831-chr4:148697652..148700222,4	MCF-7	breast:
3	chr4:148692827..148694690-chr4:148699168..148701568,2	K562	blood:
4	chr4:148697444..148700218-chr4:148710161..148711929,2	MCF-7	breast:
5	chr4:148651510..148654715-chr4:148697202..148699343,3	MCF-7	breast:

Variant related genes	Relation type
MIR4799	TF binding region
ENSG00000071205	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10012122	1.00[EUR][1000 genomes]
rs10213616	1.00[EUR][1000 genomes]
rs11934646	1.00[AMR][1000 genomes]
rs1436492	1.00[EUR][1000 genomes]
rs17023736	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17023950	1.00[EUR][1000 genomes]
rs17023959	1.00[EUR][1000 genomes]
rs17024108	1.00[EUR][1000 genomes]
rs17024163	1.00[EUR][1000 genomes]
rs2036499	1.00[AMR][1000 genomes]
rs2036502	1.00[AMR][1000 genomes]
rs2718451	1.00[AMR][1000 genomes]
rs41435251	1.00[EUR][1000 genomes]
rs55689306	1.00[EUR][1000 genomes]
rs56742479	1.00[EUR][1000 genomes]
rs59129054	1.00[EUR][1000 genomes]
rs59222333	1.00[EUR][1000 genomes]
rs59845678	1.00[EUR][1000 genomes]
rs6535551	1.00[AMR][1000 genomes]
rs6815620	1.00[EUR][1000 genomes]
rs6848211	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6854158	1.00[AMR][1000 genomes]
rs72957764	1.00[EUR][1000 genomes]
rs72957767	1.00[EUR][1000 genomes]
rs72957792	1.00[EUR][1000 genomes]
rs731989	1.00[EUR][1000 genomes]
rs7661589	1.00[EUR][1000 genomes]
rs7663257	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7699281	1.00[AMR][1000 genomes];1.00[EUR][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:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:148689600-148700200	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr4:148689800-148699400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr4:148689800-148700400	Weak transcription	Primary hematopoietic stem cells	blood
4	chr4:148693200-148700600	Enhancers	Colon Smooth Muscle	Colon
5	chr4:148693800-148699800	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr4:148694600-148699400	Enhancers	Fetal Muscle Leg	muscle
7	chr4:148694800-148708400	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr4:148695000-148699600	Enhancers	Left Ventricle	heart
9	chr4:148695200-148701400	Weak transcription	Small Intestine	intestine
10	chr4:148695400-148707400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr4:148695600-148699400	Weak transcription	Adipose Nuclei	Adipose
12	chr4:148695600-148700000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr4:148695600-148706400	Weak transcription	Fetal Stomach	stomach
14	chr4:148696000-148699400	Enhancers	Fetal Heart	heart
15	chr4:148696400-148700800	Enhancers	Right Ventricle	heart
16	chr4:148696600-148699600	Enhancers	A549	lung
17	chr4:148697000-148701600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr4:148697000-148706400	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr4:148697400-148699800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr4:148697600-148699400	Enhancers	HSMMtube	muscle
21	chr4:148697600-148699600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr4:148697600-148700200	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr4:148697600-148702000	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr4:148697800-148699400	Enhancers	Psoas Muscle	Psoas
25	chr4:148697800-148699400	Enhancers	Hela-S3	cervix
26	chr4:148697800-148699600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr4:148697800-148699600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr4:148697800-148699600	Enhancers	NHEK	skin
29	chr4:148697800-148699600	Enhancers	NHLF	lung
30	chr4:148697800-148699800	Enhancers	HUVEC	blood vessel
31	chr4:148697800-148700400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr4:148697800-148701000	Enhancers	Ovary	ovary
33	chr4:148698000-148699600	Enhancers	Muscle Satellite Cultured Cells	--
34	chr4:148698000-148699600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr4:148698000-148699600	Enhancers	HMEC	breast
36	chr4:148698000-148700200	Weak transcription	Esophagus	oesophagus
37	chr4:148698000-148701400	Weak transcription	Lung	lung
38	chr4:148698200-148699600	Enhancers	Duodenum Mucosa	Duodenum
39	chr4:148698200-148700200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr4:148698200-148701400	Weak transcription	Gastric	stomach
41	chr4:148698200-148701400	Weak transcription	Spleen	Spleen
42	chr4:148698200-148701800	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr4:148698200-148708800	Weak transcription	Pancreas	Pancrea
44	chr4:148698600-148702200	Enhancers	Right Atrium	heart
45	chr4:148698800-148699400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
46	chr4:148698800-148699400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr4:148698800-148700200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr4:148698800-148701400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr4:148698800-148703400	Weak transcription	Stomach Mucosa	stomach
50	chr4:148698800-148703600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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