Variant report

Variant	rs60292351
Chromosome Location	chr2:153258512-153258513
allele	C/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:4)

rs_ID	r²[population]
rs10931075	0.80[ASN][1000 genomes]
rs11892662	0.80[ASN][1000 genomes]
rs12474369	0.80[ASN][1000 genomes]
rs4538152	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:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153238600-153258600	Weak transcription	Left Ventricle	heart
2	chr2:153246600-153266600	Enhancers	Brain Substantia Nigra	brain
3	chr2:153247400-153277600	Weak transcription	Fetal Intestine Small	intestine
4	chr2:153247800-153258800	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr2:153249600-153259000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr2:153250800-153258800	Weak transcription	Small Intestine	intestine
7	chr2:153252000-153269800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr2:153253000-153258800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr2:153253000-153260600	Enhancers	Brain Anterior Caudate	brain
10	chr2:153253200-153258600	Weak transcription	Fetal Muscle Leg	muscle
11	chr2:153253200-153258800	Weak transcription	Right Atrium	heart
12	chr2:153253200-153259000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr2:153253200-153259600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr2:153253200-153260000	Weak transcription	Aorta	Aorta
15	chr2:153253200-153261600	Weak transcription	HSMM	muscle
16	chr2:153253200-153261600	Weak transcription	NH-A	brain
17	chr2:153253200-153261600	Weak transcription	NHLF	lung
18	chr2:153253200-153261800	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr2:153253200-153262800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr2:153253200-153263200	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr2:153253200-153263400	Enhancers	Brain Hippocampus Middle	brain
22	chr2:153253200-153263800	Weak transcription	Fetal Brain Female	brain
23	chr2:153253200-153266400	Enhancers	Brain Cingulate Gyrus	brain
24	chr2:153253400-153259000	Weak transcription	Adipose Nuclei	Adipose
25	chr2:153253600-153258600	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr2:153253600-153258600	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr2:153253600-153261800	Weak transcription	Rectal Smooth Muscle	rectum
28	chr2:153253800-153258600	Weak transcription	Fetal Brain Male	brain
29	chr2:153253800-153258800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr2:153253800-153259000	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr2:153253800-153259000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr2:153253800-153259600	Weak transcription	Colon Smooth Muscle	Colon
33	chr2:153253800-153262400	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr2:153254000-153259000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr2:153254000-153260000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr2:153254000-153263400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr2:153254200-153258800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr2:153255200-153259000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr2:153255400-153259200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr2:153255400-153259800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr2:153255400-153259800	Enhancers	NHEK	skin
42	chr2:153255600-153259000	Weak transcription	Brain Germinal Matrix	brain
43	chr2:153255800-153258600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr2:153255800-153258800	Weak transcription	Ovary	ovary
45	chr2:153255800-153261400	Weak transcription	Gastric	stomach
46	chr2:153256200-153259600	Weak transcription	Stomach Mucosa	stomach
47	chr2:153256600-153258600	Weak transcription	Lung	lung
48	chr2:153256600-153260400	Enhancers	Fetal Thymus	thymus
49	chr2:153256800-153259000	Enhancers	HMEC	breast
50	chr2:153257000-153260400	Enhancers	Breast Myoepithelial Primary Cells	Breast

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