Variant report

Variant	rs4664588
Chromosome Location	chr2:153357744-153357745
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:153356042..153358232-chr2:153361273..153362931,2	K562	blood:
2	chr2:153353996..153356046-chr2:153357031..153359533,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10460316	0.83[EUR][1000 genomes]
rs11884490	0.83[EUR][1000 genomes]
rs11897348	0.85[EUR][1000 genomes]
rs12105467	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12105483	0.81[EUR][1000 genomes]
rs12989726	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12992900	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13033468	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16831031	0.83[EUR][1000 genomes]
rs16831135	0.93[EUR][1000 genomes]
rs16831229	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16831246	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16831247	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16831263	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2881338	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34027587	0.83[EUR][1000 genomes]
rs34520795	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35455499	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4233659	0.81[EUR][1000 genomes]
rs4664108	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4664111	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4664584	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs55692468	0.85[ASN][1000 genomes]
rs60280470	0.90[EUR][1000 genomes]
rs67374211	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs71417228	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7582905	0.93[EUR][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	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	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
3	nsv1013777	chr2:153273637-153538546	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	esv2754362	chr2:153297577-153366129	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv834420	chr2:153339646-153535460	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153343000-153360600	Enhancers	Brain Anterior Caudate	brain
2	chr2:153348800-153370200	Weak transcription	Aorta	Aorta
3	chr2:153350800-153360400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr2:153351400-153361000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr2:153351600-153359600	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr2:153352000-153359800	Enhancers	Brain Substantia Nigra	brain
7	chr2:153354200-153358200	Enhancers	Adipose Nuclei	Adipose
8	chr2:153354200-153358800	Enhancers	Brain Angular Gyrus	brain
9	chr2:153354200-153360000	Enhancers	Brain Inferior Temporal Lobe	brain
10	chr2:153354400-153361000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr2:153354600-153360600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr2:153354600-153361000	Weak transcription	NHLF	lung
13	chr2:153354600-153364600	Weak transcription	Left Ventricle	heart
14	chr2:153354600-153365200	Weak transcription	Pancreas	Pancrea
15	chr2:153354800-153362000	Weak transcription	Fetal Heart	heart
16	chr2:153355200-153358800	Enhancers	A549	lung
17	chr2:153355400-153358600	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr2:153355600-153362400	Enhancers	Fetal Brain Male	brain
19	chr2:153356000-153357800	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr2:153356000-153364600	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr2:153356200-153357800	Weak transcription	Colon Smooth Muscle	Colon
22	chr2:153356200-153358600	Enhancers	Brain Cingulate Gyrus	brain
23	chr2:153356200-153359600	Weak transcription	NHEK	skin
24	chr2:153356400-153359400	Weak transcription	HepG2	liver
25	chr2:153356400-153361200	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr2:153356400-153363000	Weak transcription	Small Intestine	intestine
27	chr2:153356600-153357800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr2:153356600-153358600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
29	chr2:153356600-153359400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr2:153356600-153359600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr2:153356600-153361000	Weak transcription	NH-A	brain
32	chr2:153356600-153361200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr2:153356600-153361400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr2:153356600-153362000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr2:153356800-153357800	Weak transcription	Fetal Brain Female	brain
36	chr2:153356800-153358200	Enhancers	Ovary	ovary
37	chr2:153356800-153361000	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr2:153356800-153361000	Weak transcription	HSMMtube	muscle
39	chr2:153356800-153361000	Weak transcription	Osteobl	bone
40	chr2:153356800-153364600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr2:153356800-153365000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr2:153357000-153358800	Weak transcription	Placenta	Placenta
43	chr2:153357000-153359600	Weak transcription	Hela-S3	cervix
44	chr2:153357000-153359800	Weak transcription	Fetal Kidney	kidney
45	chr2:153357000-153361200	Weak transcription	NHDF-Ad	bronchial
46	chr2:153357000-153362000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr2:153357000-153364800	Weak transcription	Fetal Lung	lung
48	chr2:153357200-153359400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr2:153357200-153360000	Enhancers	Brain Hippocampus Middle	brain
50	chr2:153357200-153360400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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