Variant report

Variant	rs17630944
Chromosome Location	chr4:53704854-53704855
allele	A/C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:53696996..53699820-chr4:53703749..53706147,2	MCF-7	breast:
2	chr4:53569611..53572109-chr4:53704013..53705802,2	MCF-7	breast:
3	chr4:53694571..53696794-chr4:53703180..53704940,2	MCF-7	breast:
4	chr4:53703430..53706086-chr4:53726755..53729758,3	MCF-7	breast:
5	chr4:53587084..53590122-chr4:53703500..53706827,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000128045	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10517269	0.81[EUR][1000 genomes]
rs17082074	0.86[EUR][1000 genomes]
rs17698672	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73814868	0.81[EUR][1000 genomes]
rs73814875	0.84[EUR][1000 genomes]
rs73814883	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv594201	chr4:52798624-53732445	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv1004889	chr4:53436500-54106281	Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv537094	chr4:53436500-54106281	Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv1004086	chr4:53698581-53773183	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:53698800-53710600	Enhancers	HUES6 Cell Line	embryonic stem cell
2	chr4:53700200-53710800	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr4:53700400-53709600	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr4:53701000-53706800	Weak transcription	Stomach Mucosa	stomach
5	chr4:53701000-53707000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr4:53701000-53707800	Weak transcription	Aorta	Aorta
7	chr4:53702200-53705800	Enhancers	NHDF-Ad	bronchial
8	chr4:53702400-53707200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr4:53702400-53709200	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr4:53702400-53709800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr4:53702800-53705600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr4:53702800-53705600	Enhancers	HSMM	muscle
13	chr4:53702800-53706200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr4:53703000-53705200	Weak transcription	Fetal Brain Male	brain
15	chr4:53703000-53705600	Enhancers	HSMMtube	muscle
16	chr4:53703000-53707400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr4:53703200-53706400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr4:53703200-53708200	Weak transcription	Fetal Kidney	kidney
19	chr4:53703600-53705000	Flanking Active TSS	HMEC	breast
20	chr4:53703600-53705600	Flanking Active TSS	NHEK	skin
21	chr4:53703600-53707600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr4:53703800-53705200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr4:53703800-53705200	Enhancers	Pancreas	Pancrea
24	chr4:53703800-53705400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr4:53703800-53705600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr4:53703800-53705600	Enhancers	Brain Cingulate Gyrus	brain
27	chr4:53703800-53705600	Enhancers	Brain Substantia Nigra	brain
28	chr4:53703800-53705800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
29	chr4:53703800-53705800	Enhancers	Placenta	Placenta
30	chr4:53703800-53706000	Enhancers	Brain Anterior Caudate	brain
31	chr4:53703800-53707800	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr4:53703800-53709000	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr4:53704000-53705200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr4:53704000-53705200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr4:53704000-53705200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr4:53704000-53705200	Enhancers	Brain Inferior Temporal Lobe	brain
37	chr4:53704000-53705200	Enhancers	Esophagus	oesophagus
38	chr4:53704000-53705400	Enhancers	Ovary	ovary
39	chr4:53704000-53705800	Enhancers	Brain Hippocampus Middle	brain
40	chr4:53704000-53706200	Enhancers	Right Ventricle	heart
41	chr4:53704000-53706400	Enhancers	Right Atrium	heart
42	chr4:53704000-53709200	Enhancers	Psoas Muscle	Psoas
43	chr4:53704000-53709200	Enhancers	Skeletal Muscle Female	skeletal muscle
44	chr4:53704000-53709400	Enhancers	Fetal Heart	heart
45	chr4:53704000-53709600	Enhancers	Left Ventricle	heart
46	chr4:53704000-53710000	Enhancers	Fetal Muscle Leg	muscle
47	chr4:53704200-53705000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr4:53704200-53705000	Enhancers	Fetal Intestine Small	intestine
49	chr4:53704200-53705000	Enhancers	Gastric	stomach
50	chr4:53704200-53705200	Enhancers	H9 Cell Line	embryonic stem cell

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