Variant report

Variant	rs13004473
Chromosome Location	chr2:153249349-153249350
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10174137	0.90[ASN][1000 genomes]
rs16831007	0.84[EUR][1000 genomes]
rs16831018	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16831034	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34635752	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4664107	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4664576	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60433007	0.95[ASN][1000 genomes]
rs6718337	0.95[ASN][1000 genomes]
rs71417219	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs71417220	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73967988	0.95[ASN][1000 genomes]
rs73967989	0.90[ASN][1000 genomes]
rs7576568	0.95[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	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

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153226200-153249400	Weak transcription	Right Ventricle	heart
2	chr2:153226200-153251800	Weak transcription	HSMMtube	muscle
3	chr2:153229200-153252400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr2:153233800-153255400	Weak transcription	NHEK	skin
5	chr2:153237400-153255400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr2:153237400-153255400	Weak transcription	HMEC	breast
7	chr2:153238600-153258600	Weak transcription	Left Ventricle	heart
8	chr2:153241200-153251600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr2:153241200-153255400	Weak transcription	Pancreas	Pancrea
10	chr2:153242800-153252600	Weak transcription	A549	lung
11	chr2:153243000-153251600	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr2:153243400-153252600	Weak transcription	Fetal Brain Female	brain
13	chr2:153243800-153252000	Weak transcription	Fetal Lung	lung
14	chr2:153245000-153251800	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr2:153245800-153250800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr2:153245800-153250800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
17	chr2:153246000-153251400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr2:153246400-153251600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr2:153246600-153266600	Enhancers	Brain Substantia Nigra	brain
20	chr2:153247000-153251800	Enhancers	Brain Anterior Caudate	brain
21	chr2:153247000-153257800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr2:153247200-153255400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr2:153247400-153249400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr2:153247400-153250800	Enhancers	Brain Angular Gyrus	brain
25	chr2:153247400-153251600	Weak transcription	Ovary	ovary
26	chr2:153247400-153252600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr2:153247400-153252600	Weak transcription	Fetal Stomach	stomach
28	chr2:153247400-153255400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr2:153247400-153277600	Weak transcription	Fetal Intestine Small	intestine
30	chr2:153247800-153249400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr2:153247800-153251400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr2:153247800-153258800	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr2:153248000-153249400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr2:153248000-153250000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr2:153248000-153250800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr2:153248000-153251400	Weak transcription	Fetal Brain Male	brain
37	chr2:153248200-153249400	Weak transcription	HepG2	liver
38	chr2:153248200-153251200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr2:153248200-153251600	Weak transcription	Psoas Muscle	Psoas
40	chr2:153248200-153251800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr2:153248600-153249400	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr2:153248800-153253600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr2:153249000-153249600	Enhancers	Lung	lung
44	chr2:153249000-153249800	Enhancers	H1 Cell Line	embryonic stem cell
45	chr2:153249000-153249800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr2:153249000-153250000	Weak transcription	Brain Hippocampus Middle	brain
47	chr2:153249000-153252400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr2:153249000-153252600	Enhancers	Brain Cingulate Gyrus	brain
49	chr2:153249200-153249400	Enhancers	Aorta	Aorta
50	chr2:153249200-153249400	Weak transcription	Gastric	stomach

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