Variant report

Variant	rs4664576
Chromosome Location	chr2:153245121-153245122
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	chr2:153237750..153240255-chr2:153243184..153245369,2	K562	blood:

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10174137	0.90[ASN][1000 genomes]
rs10497100	0.93[AMR][1000 genomes]
rs10931062	0.93[AMR][1000 genomes]
rs12185697	0.93[AMR][1000 genomes]
rs13004473	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13004494	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs13022422	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13023506	0.93[AMR][1000 genomes]
rs13023659	0.93[AMR][1000 genomes]
rs16830964	0.81[AMR][1000 genomes]
rs16830971	0.88[AMR][1000 genomes]
rs16830977	0.93[AMR][1000 genomes]
rs16831007	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs16831009	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16831018	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16831034	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34581620	0.93[AMR][1000 genomes]
rs35403838	0.81[AMR][1000 genomes]
rs35589946	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs35771051	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35937195	0.81[AMR][1000 genomes]
rs4664101	0.81[AMR][1000 genomes]
rs4664104	0.93[AMR][1000 genomes]
rs4664107	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4664571	0.81[AMR][1000 genomes]
rs4664574	0.93[AMR][1000 genomes]
rs57720755	0.93[AMR][1000 genomes]
rs60433007	0.89[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs6718337	0.89[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs71417220	0.82[EUR][1000 genomes]
rs73967829	0.93[AMR][1000 genomes]
rs73967831	0.93[AMR][1000 genomes]
rs73967988	0.89[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs73967989	0.90[ASN][1000 genomes]
rs73970604	0.81[AMR][1000 genomes]
rs7573890	0.93[AMR][1000 genomes]
rs7574699	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs7576568	0.89[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs7588008	0.93[AMR][1000 genomes]
rs7602756	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs7602975	0.81[AMR][1000 genomes]
rs7606289	0.88[AMR][1000 genomes]
rs7606397	0.88[AMR][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:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153207600-153246400	Weak transcription	Fetal Intestine Small	intestine
2	chr2:153224800-153246000	Weak transcription	Fetal Stomach	stomach
3	chr2:153226200-153249400	Weak transcription	Right Ventricle	heart
4	chr2:153226200-153251800	Weak transcription	HSMMtube	muscle
5	chr2:153229200-153252400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr2:153233400-153249000	Weak transcription	Gastric	stomach
7	chr2:153233600-153246200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr2:153233800-153245600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr2:153233800-153255400	Weak transcription	NHEK	skin
10	chr2:153237400-153246200	Weak transcription	Placenta	Placenta
11	chr2:153237400-153249000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr2:153237400-153255400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr2:153237400-153255400	Weak transcription	HMEC	breast
14	chr2:153238400-153246400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr2:153238600-153245600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr2:153238600-153246600	Weak transcription	Ovary	ovary
17	chr2:153238600-153258600	Weak transcription	Left Ventricle	heart
18	chr2:153241200-153245600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr2:153241200-153251600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr2:153241200-153255400	Weak transcription	Pancreas	Pancrea
21	chr2:153241600-153249000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr2:153242600-153247200	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr2:153242800-153245200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr2:153242800-153247800	Weak transcription	Psoas Muscle	Psoas
25	chr2:153242800-153248000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr2:153242800-153248000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr2:153242800-153249200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr2:153242800-153252600	Weak transcription	A549	lung
29	chr2:153243000-153247200	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr2:153243000-153251600	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr2:153243200-153249200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr2:153243400-153246000	Weak transcription	HepG2	liver
33	chr2:153243400-153247400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr2:153243400-153252600	Weak transcription	Fetal Brain Female	brain
35	chr2:153243600-153247000	Weak transcription	Brain Anterior Caudate	brain
36	chr2:153243800-153245800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr2:153243800-153246800	Weak transcription	Stomach Mucosa	stomach
38	chr2:153243800-153252000	Weak transcription	Fetal Lung	lung
39	chr2:153244400-153245200	Enhancers	Primary monocytes fromperipheralblood	blood
40	chr2:153244400-153245200	Enhancers	Monocytes-CD14+_RO01746	blood
41	chr2:153244400-153245400	Enhancers	Brain Substantia Nigra	brain
42	chr2:153244400-153247200	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr2:153244600-153245800	Enhancers	Brain Hippocampus Middle	brain
44	chr2:153244600-153246800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr2:153244800-153245800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr2:153245000-153245200	Enhancers	Brain Angular Gyrus	brain
47	chr2:153245000-153245800	Enhancers	Brain Cingulate Gyrus	brain
48	chr2:153245000-153246000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr2:153245000-153246000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr2:153245000-153246200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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