Variant report

Variant	rs66917631
Chromosome Location	chr4:124335586-124335587
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs17006914	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61521906	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6534397	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72684649	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][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	nsv1006945	chr4:124206328-124503863	Enhancers Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv537240	chr4:124206328-124503863	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	esv34581	chr4:124271321-125247395	Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:124321400-124337200	Weak transcription	A549	lung
2	chr4:124321800-124337400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr4:124322800-124339000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr4:124323800-124337400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr4:124323800-124339400	Weak transcription	Brain Anterior Caudate	brain
6	chr4:124324000-124339000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr4:124324000-124339600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr4:124324400-124337200	Weak transcription	Ovary	ovary
9	chr4:124324600-124337200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr4:124324600-124337200	Weak transcription	HMEC	breast
11	chr4:124324800-124337200	Weak transcription	Placenta	Placenta
12	chr4:124326600-124336400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr4:124327000-124336800	Weak transcription	HSMM	muscle
14	chr4:124327000-124342800	Weak transcription	Right Atrium	heart
15	chr4:124328400-124337400	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr4:124331200-124337400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr4:124331600-124337400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr4:124332600-124336800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr4:124332600-124337000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr4:124332800-124335600	Enhancers	Fetal Thymus	thymus
21	chr4:124332800-124343200	Enhancers	Primary hematopoietic stem cells	blood
22	chr4:124333400-124337800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr4:124333400-124339400	Weak transcription	Psoas Muscle	Psoas
24	chr4:124333600-124339000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr4:124333600-124339200	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr4:124333800-124342600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr4:124334000-124339600	Weak transcription	Colon Smooth Muscle	Colon
28	chr4:124334200-124336800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr4:124334200-124338800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr4:124334400-124336200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr4:124334400-124336800	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr4:124334400-124336800	Weak transcription	NH-A	brain
33	chr4:124334400-124337000	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr4:124334400-124337000	Weak transcription	Osteobl	bone
35	chr4:124334400-124337200	Weak transcription	Fetal Muscle Leg	muscle
36	chr4:124334400-124337200	Weak transcription	NHDF-Ad	bronchial
37	chr4:124334400-124337400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr4:124334400-124337400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr4:124334400-124337600	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr4:124334400-124338800	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr4:124334400-124338800	Weak transcription	HSMMtube	muscle
42	chr4:124334600-124336000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr4:124334600-124336800	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr4:124334600-124336800	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr4:124334600-124337000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr4:124334600-124339000	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr4:124334600-124339400	Weak transcription	Primary B cells from peripheral blood	blood
48	chr4:124334800-124337000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr4:124334800-124337200	Weak transcription	Primary B cells from cord blood	blood
50	chr4:124334800-124337400	Weak transcription	Thymus	Thymus

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