Variant report

Variant	rs4538152
Chromosome Location	chr2:153259513-153259514
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs60292351	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][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	nsv834419	chr2:153179420-153381476	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv1005012	chr2:153206764-153273886	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	esv3693436	chr2:153219836-153479857	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv875291	chr2:153251742-153339823	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	2 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	chr2:153246600-153266600	Enhancers	Brain Substantia Nigra	brain
2	chr2:153247400-153277600	Weak transcription	Fetal Intestine Small	intestine
3	chr2:153252000-153269800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:153253000-153260600	Enhancers	Brain Anterior Caudate	brain
5	chr2:153253200-153259600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr2:153253200-153260000	Weak transcription	Aorta	Aorta
7	chr2:153253200-153261600	Weak transcription	HSMM	muscle
8	chr2:153253200-153261600	Weak transcription	NH-A	brain
9	chr2:153253200-153261600	Weak transcription	NHLF	lung
10	chr2:153253200-153261800	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr2:153253200-153262800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:153253200-153263200	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr2:153253200-153263400	Enhancers	Brain Hippocampus Middle	brain
14	chr2:153253200-153263800	Weak transcription	Fetal Brain Female	brain
15	chr2:153253200-153266400	Enhancers	Brain Cingulate Gyrus	brain
16	chr2:153253600-153261800	Weak transcription	Rectal Smooth Muscle	rectum
17	chr2:153253800-153259600	Weak transcription	Colon Smooth Muscle	Colon
18	chr2:153253800-153262400	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr2:153254000-153260000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr2:153254000-153263400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr2:153255400-153259800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr2:153255400-153259800	Enhancers	NHEK	skin
23	chr2:153255800-153261400	Weak transcription	Gastric	stomach
24	chr2:153256200-153259600	Weak transcription	Stomach Mucosa	stomach
25	chr2:153256600-153260400	Enhancers	Fetal Thymus	thymus
26	chr2:153257000-153260400	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr2:153257000-153260400	Enhancers	Brain Angular Gyrus	brain
28	chr2:153257200-153259800	Enhancers	A549	lung
29	chr2:153257200-153263800	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr2:153257600-153263200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr2:153257600-153266800	Enhancers	HepG2	liver
32	chr2:153257800-153260200	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr2:153257800-153264600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr2:153257800-153268200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr2:153258000-153260200	Enhancers	Placenta	Placenta
36	chr2:153258000-153260600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr2:153258000-153261000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr2:153258000-153261600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr2:153258000-153263200	Weak transcription	Osteobl	bone
40	chr2:153258400-153259600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr2:153258600-153259600	Enhancers	Fetal Muscle Leg	muscle
42	chr2:153258600-153259800	Enhancers	Left Ventricle	heart
43	chr2:153258600-153260000	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr2:153258600-153260000	Enhancers	Fetal Brain Male	brain
45	chr2:153258600-153260200	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr2:153258600-153260800	Enhancers	Lung	lung
47	chr2:153258600-153262200	Enhancers	Pancreas	Pancrea
48	chr2:153258600-153263600	Enhancers	Brain Inferior Temporal Lobe	brain
49	chr2:153258800-153259600	Enhancers	Sigmoid Colon	Sigmoid Colon
50	chr2:153258800-153259600	Enhancers	Spleen	Spleen

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