Variant report

Variant	rs301321
Chromosome Location	chr4:124329199-124329200
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:124323722..124325703-chr4:124328935..124331134,3	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12233855	0.81[ASN][1000 genomes]
rs2390522	0.84[ASN][1000 genomes]
rs300556	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs300566	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs300570	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs300571	0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs366043	0.84[ASN][1000 genomes]
rs449103	0.84[ASN][1000 genomes]
rs4833912	0.84[ASN][1000 genomes]
rs7665238	0.96[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:79 , 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	chr4:124322400-124334000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr4:124322800-124339000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr4:124323400-124332800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr4:124323600-124334400	Weak transcription	Gastric	stomach
7	chr4:124323800-124332800	Weak transcription	Primary hematopoietic stem cells	blood
8	chr4:124323800-124333200	Weak transcription	Primary T cells from cord blood	blood
9	chr4:124323800-124337400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr4:124323800-124339400	Weak transcription	Brain Anterior Caudate	brain
11	chr4:124324000-124333600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr4:124324000-124334000	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr4:124324000-124334000	Weak transcription	NHDF-Ad	bronchial
14	chr4:124324000-124339000	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr4:124324000-124339600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr4:124324200-124329600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr4:124324400-124334200	Weak transcription	Spleen	Spleen
18	chr4:124324400-124337200	Weak transcription	Ovary	ovary
19	chr4:124324600-124332800	Weak transcription	Primary B cells from cord blood	blood
20	chr4:124324600-124332800	Weak transcription	Primary B cells from peripheral blood	blood
21	chr4:124324600-124333200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr4:124324600-124333200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr4:124324600-124333200	Weak transcription	Thymus	Thymus
24	chr4:124324600-124333200	Weak transcription	HSMMtube	muscle
25	chr4:124324600-124334000	Weak transcription	Aorta	Aorta
26	chr4:124324600-124334200	Weak transcription	Fetal Stomach	stomach
27	chr4:124324600-124334400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr4:124324600-124337200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr4:124324600-124337200	Weak transcription	HMEC	breast
30	chr4:124324800-124337200	Weak transcription	Placenta	Placenta
31	chr4:124325000-124333600	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr4:124325800-124329600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr4:124326000-124331000	Weak transcription	Fetal Thymus	thymus
34	chr4:124326000-124331800	Enhancers	HepG2	liver
35	chr4:124326200-124329600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr4:124326200-124333800	Weak transcription	Colon Smooth Muscle	Colon
37	chr4:124326400-124333600	Weak transcription	Duodenum Mucosa	Duodenum
38	chr4:124326600-124329600	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr4:124326600-124334000	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr4:124326600-124336400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr4:124326800-124329600	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr4:124326800-124329600	Weak transcription	Psoas Muscle	Psoas
43	chr4:124326800-124330600	Enhancers	Cortex derived primary cultured neurospheres	brain
44	chr4:124326800-124332800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr4:124326800-124333200	Weak transcription	Fetal Intestine Large	intestine
46	chr4:124326800-124334400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr4:124327000-124329800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr4:124327000-124330400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr4:124327000-124330600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr4:124327000-124331200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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