Variant report

Variant	rs17591223
Chromosome Location	chr4:152405796-152405797
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs17027640	1.00[EUR][1000 genomes]
rs17690873	1.00[EUR][1000 genomes]
rs28378042	1.00[EUR][1000 genomes]
rs28479832	1.00[EUR][1000 genomes]
rs28501688	1.00[EUR][1000 genomes]
rs28505227	0.91[EUR][1000 genomes]
rs28513809	1.00[EUR][1000 genomes]
rs28866051	1.00[EUR][1000 genomes]
rs4336208	0.96[EUR][1000 genomes]
rs7685383	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv880262	chr4:151712054-152519899	Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv881526	chr4:151968295-152489087	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv1025192	chr4:152202627-152498890	Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	nsv537307	chr4:152202627-152498890	Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	nsv880624	chr4:152280646-152549112	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
6	nsv432643	chr4:152335395-152417635	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv881342	chr4:152363772-152560449	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv830114	chr4:152401288-152548606	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:152395000-152413200	Weak transcription	Duodenum Mucosa	Duodenum
2	chr4:152397200-152406600	Weak transcription	Psoas Muscle	Psoas
3	chr4:152401600-152412200	Weak transcription	Ovary	ovary
4	chr4:152402600-152405800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr4:152403200-152410000	Weak transcription	Fetal Intestine Small	intestine
6	chr4:152403200-152412600	Weak transcription	Fetal Intestine Large	intestine
7	chr4:152403600-152407600	Enhancers	HSMMtube	muscle
8	chr4:152404400-152406000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
9	chr4:152404600-152406400	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr4:152404600-152406600	Weak transcription	Liver	Liver
11	chr4:152404600-152407200	Enhancers	HSMM	muscle
12	chr4:152404600-152407600	Enhancers	H1 Cell Line	embryonic stem cell
13	chr4:152404800-152406000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr4:152405200-152405800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr4:152405200-152406000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
16	chr4:152405200-152406400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
17	chr4:152405200-152407000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr4:152405200-152407200	Enhancers	Osteobl	bone
19	chr4:152405200-152407400	Enhancers	HMEC	breast
20	chr4:152405200-152407600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr4:152405400-152405800	Enhancers	H9 Cell Line	embryonic stem cell
22	chr4:152405400-152405800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr4:152405400-152405800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr4:152405400-152406000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
25	chr4:152405400-152406000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
26	chr4:152405400-152406000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
27	chr4:152405400-152406200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr4:152405400-152406200	Enhancers	Placenta Amnion	Placenta Amnion
29	chr4:152405400-152407000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr4:152405400-152407200	Enhancers	NHEK	skin
31	chr4:152405400-152407800	Enhancers	NH-A	brain
32	chr4:152405600-152405800	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr4:152405600-152405800	Enhancers	Left Ventricle	heart
34	chr4:152405600-152406000	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr4:152405600-152406000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
36	chr4:152405600-152406000	Enhancers	NHDF-Ad	bronchial
37	chr4:152405600-152406200	Enhancers	Hela-S3	cervix
38	chr4:152405600-152406400	Active TSS	ES-I3 Cell Line	embryonic stem cell
39	chr4:152405600-152406800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr4:152405600-152406800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr4:152405600-152406800	Enhancers	A549	lung
42	chr4:152405600-152407600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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