Variant report

Variant	rs10938533
Chromosome Location	chr4:48492287-48492288
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs13125511	0.81[ASN][1000 genomes]
rs4413478	0.81[ASN][1000 genomes]
rs7668401	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv470034	chr4:48427773-48605628	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
2	nsv594121	chr4:48427773-48605628	Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
3	nsv829925	chr4:48467693-48639342	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv879008	chr4:48473439-48496804	Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	nsv879009	chr4:48476539-48494546	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48487200-48505800	Weak transcription	A549	lung
2	chr4:48491400-48493000	Transcr. at gene 5' and 3'	Cortex derived primary cultured neurospheres	brain
3	chr4:48491400-48493800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
4	chr4:48491400-48494400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
5	chr4:48491400-48495400	Weak transcription	K562	blood
6	chr4:48491600-48492400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
7	chr4:48491600-48492400	Bivalent Enhancer	Fetal Brain Male	brain
8	chr4:48491600-48492600	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr4:48491600-48492600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr4:48491600-48493400	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
11	chr4:48491600-48493600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
12	chr4:48491600-48493800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
13	chr4:48491600-48493800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
14	chr4:48491600-48494000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
15	chr4:48491800-48492400	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
16	chr4:48491800-48492400	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
17	chr4:48491800-48492400	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
18	chr4:48491800-48492400	Bivalent Enhancer	Fetal Heart	heart
19	chr4:48491800-48492400	Bivalent Enhancer	Fetal Muscle Leg	muscle
20	chr4:48491800-48492400	Bivalent Enhancer	Placenta	Placenta
21	chr4:48491800-48492400	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
22	chr4:48491800-48492600	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr4:48491800-48492600	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr4:48491800-48492600	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
25	chr4:48491800-48492600	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
26	chr4:48491800-48492600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr4:48491800-48492600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr4:48491800-48492600	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr4:48491800-48492600	Bivalent/Poised TSS	Brain Anterior Caudate	brain
30	chr4:48491800-48492600	Bivalent Enhancer	Fetal Lung	lung
31	chr4:48491800-48492600	Bivalent Enhancer	Fetal Thymus	thymus
32	chr4:48491800-48492600	Flanking Active TSS	Pancreas	Pancrea
33	chr4:48491800-48492600	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
34	chr4:48491800-48492600	Bivalent/Poised TSS	NHEK	skin
35	chr4:48491800-48492800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr4:48491800-48492800	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
37	chr4:48491800-48492800	Flanking Active TSS	Right Ventricle	heart
38	chr4:48491800-48493000	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr4:48491800-48493000	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
40	chr4:48491800-48493200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr4:48491800-48493400	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
42	chr4:48491800-48493400	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
43	chr4:48491800-48493600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
44	chr4:48491800-48493800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
45	chr4:48491800-48493800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
46	chr4:48491800-48494200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
47	chr4:48492000-48492400	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr4:48492000-48492400	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
49	chr4:48492000-48492400	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr4:48492000-48492400	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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