Variant report

Variant	rs17023769
Chromosome Location	chr4:148682057-148682058
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:148681678..148684071-chr4:148684909..148686495,2	MCF-7	breast:
2	chr4:148681067..148682789-chr4:148764324..148765969,2	MCF-7	breast:
3	chr4:148681549..148683602-chr4:148686887..148689104,2	MCF-7	breast:
4	chr4:148679061..148682709-chr4:148682971..148685662,3	MCF-7	breast:

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

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

rs_ID	r²[population]
rs10002113	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10003056	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10004457	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10004995	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10005261	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10016720	1.00[AMR][1000 genomes]
rs10016881	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10019799	1.00[AMR][1000 genomes]
rs1436492	1.00[AMR][1000 genomes]
rs28438925	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28454186	1.00[AMR][1000 genomes]
rs28510261	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28516760	1.00[AMR][1000 genomes]
rs7699081	0.93[AFR][1000 genomes];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:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:148663600-148688800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr4:148664600-148682200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr4:148670200-148693200	Weak transcription	Esophagus	oesophagus
4	chr4:148676600-148682800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr4:148677600-148689000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr4:148677800-148686600	Weak transcription	Duodenum Mucosa	Duodenum
7	chr4:148677800-148688800	Weak transcription	NH-A	brain
8	chr4:148678000-148685200	Weak transcription	NHDF-Ad	bronchial
9	chr4:148678000-148686000	Weak transcription	NHEK	skin
10	chr4:148678000-148686400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr4:148678000-148689000	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr4:148678000-148689200	Weak transcription	HSMMtube	muscle
13	chr4:148678000-148693200	Weak transcription	Adipose Nuclei	Adipose
14	chr4:148678200-148685000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr4:148678200-148686400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr4:148678200-148688800	Weak transcription	Osteobl	bone
17	chr4:148678800-148685000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr4:148679000-148686800	Weak transcription	Right Ventricle	heart
19	chr4:148679200-148685000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr4:148679200-148685800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr4:148679200-148689200	Weak transcription	Gastric	stomach
22	chr4:148679200-148689200	Weak transcription	NHLF	lung
23	chr4:148679200-148693000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr4:148679200-148693000	Weak transcription	Aorta	Aorta
25	chr4:148679200-148696400	Weak transcription	Lung	lung
26	chr4:148679400-148682600	Weak transcription	Fetal Stomach	stomach
27	chr4:148680600-148682600	Enhancers	Small Intestine	intestine
28	chr4:148681200-148682200	Enhancers	Fetal Heart	heart
29	chr4:148681200-148682200	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr4:148681200-148682400	Enhancers	Psoas Muscle	Psoas
31	chr4:148681200-148682400	Enhancers	Stomach Mucosa	stomach
32	chr4:148681200-148682600	Enhancers	Ovary	ovary
33	chr4:148681200-148683200	Enhancers	Colon Smooth Muscle	Colon
34	chr4:148681200-148683600	Enhancers	Rectal Smooth Muscle	rectum
35	chr4:148681200-148683600	Enhancers	Stomach Smooth Muscle	stomach
36	chr4:148681400-148682400	Enhancers	Fetal Muscle Leg	muscle
37	chr4:148681400-148683000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr4:148681400-148683000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr4:148681400-148683200	Enhancers	GM12878-XiMat	blood
40	chr4:148681600-148682200	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr4:148681600-148682200	Enhancers	Fetal Muscle Trunk	muscle
42	chr4:148681600-148682200	Enhancers	HSMM	muscle
43	chr4:148681600-148682400	Enhancers	Left Ventricle	heart
44	chr4:148681800-148682200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr4:148681800-148682400	Enhancers	Right Atrium	heart
46	chr4:148682000-148682600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr4:148682000-148682800	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr4:148682000-148682800	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr4:148682000-148684600	Weak transcription	Pancreas	Pancrea
50	chr4:148682000-148685000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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