Variant report

Variant	rs34457645
Chromosome Location	chr2:153359206-153359207
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs12104452	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12987348	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12989840	1.00[EUR][1000 genomes]
rs12991474	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12993239	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12999189	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13011850	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13018434	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13021931	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13027160	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13027356	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13029667	1.00[EUR][1000 genomes]
rs13034458	1.00[EUR][1000 genomes]
rs16831151	0.89[ASN][1000 genomes]
rs16831161	1.00[ASN][1000 genomes]
rs34300140	1.00[EUR][1000 genomes]
rs34332337	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34416306	1.00[EUR][1000 genomes]
rs34504342	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34722196	1.00[EUR][1000 genomes]
rs35199259	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35472114	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35804350	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36108117	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59579926	0.89[ASN][1000 genomes]
rs6434046	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6731516	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6745613	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71417227	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71417229	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73016010	0.83[AMR][1000 genomes];1.00[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:62 , 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	chr2:153354200-153360000	Enhancers	Brain Inferior Temporal Lobe	brain
8	chr2:153354400-153361000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr2:153354600-153360600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr2:153354600-153361000	Weak transcription	NHLF	lung
11	chr2:153354600-153364600	Weak transcription	Left Ventricle	heart
12	chr2:153354600-153365200	Weak transcription	Pancreas	Pancrea
13	chr2:153354800-153362000	Weak transcription	Fetal Heart	heart
14	chr2:153355600-153362400	Enhancers	Fetal Brain Male	brain
15	chr2:153356000-153364600	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr2:153356200-153359600	Weak transcription	NHEK	skin
17	chr2:153356400-153359400	Weak transcription	HepG2	liver
18	chr2:153356400-153361200	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr2:153356400-153363000	Weak transcription	Small Intestine	intestine
20	chr2:153356600-153359400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr2:153356600-153359600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr2:153356600-153361000	Weak transcription	NH-A	brain
23	chr2:153356600-153361200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr2:153356600-153361400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr2:153356600-153362000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr2:153356800-153361000	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr2:153356800-153361000	Weak transcription	HSMMtube	muscle
28	chr2:153356800-153361000	Weak transcription	Osteobl	bone
29	chr2:153356800-153364600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr2:153356800-153365000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr2:153357000-153359600	Weak transcription	Hela-S3	cervix
32	chr2:153357000-153359800	Weak transcription	Fetal Kidney	kidney
33	chr2:153357000-153361200	Weak transcription	NHDF-Ad	bronchial
34	chr2:153357000-153362000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr2:153357000-153364800	Weak transcription	Fetal Lung	lung
36	chr2:153357200-153359400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr2:153357200-153360000	Enhancers	Brain Hippocampus Middle	brain
38	chr2:153357200-153360400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr2:153357200-153361400	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr2:153357200-153365000	Weak transcription	Fetal Stomach	stomach
41	chr2:153357400-153361400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr2:153357400-153364600	Weak transcription	Psoas Muscle	Psoas
43	chr2:153357400-153375200	Weak transcription	Right Atrium	heart
44	chr2:153357600-153360600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr2:153357600-153360800	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr2:153357600-153365000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr2:153357600-153365200	Weak transcription	Fetal Muscle Leg	muscle
48	chr2:153357800-153362000	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr2:153358000-153361200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr2:153358200-153361000	Weak transcription	HUES48 Cell Line	embryonic stem cell

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