Variant report

Variant	rs2163767
Chromosome Location	chr5:146804805-146804806
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:146802902..146805345-chr5:146810324..146812732,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10042298	1.00[CEU][hapmap]
rs10043932	1.00[CEU][hapmap]
rs10045916	1.00[CEU][hapmap]
rs10476887	1.00[CEU][hapmap]
rs11952440	1.00[CEU][hapmap]
rs11955404	1.00[CEU][hapmap]
rs12655492	0.85[CHB][hapmap]
rs12657083	1.00[CEU][hapmap];0.85[CHB][hapmap]
rs12657176	0.83[CHB][hapmap]
rs12657809	0.87[CHB][hapmap];0.80[ASN][1000 genomes]
rs13340333	0.93[CHB][hapmap]
rs1432852	1.00[CEU][hapmap];0.85[YRI][hapmap];0.88[AFR][1000 genomes]
rs1549915	1.00[CEU][hapmap]
rs17096661	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17106713	0.86[CHB][hapmap];0.80[ASN][1000 genomes]
rs17106716	0.87[CHB][hapmap];0.80[ASN][1000 genomes]
rs17106723	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17106725	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17106726	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2241696	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3792839	1.00[CEU][hapmap]
rs58013114	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60753325	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6886313	1.00[CEU][hapmap]
rs6891468	1.00[CEU][hapmap]
rs6897123	1.00[CEU][hapmap];0.86[CHB][hapmap];0.80[ASN][1000 genomes]
rs73264219	0.89[ASN][1000 genomes]
rs73794718	0.99[AFR][1000 genomes]
rs73794720	0.86[AFR][1000 genomes]
rs7737670	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv519847	chr5:146166378-146812647	Bivalent/Poised TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv599938	chr5:146169511-146806365	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 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	chr5:146769800-146810400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
2	chr5:146770200-146805200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
3	chr5:146770200-146810800	Strong transcription	HUES48 Cell Line	embryonic stem cell
4	chr5:146784800-146807400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr5:146785400-146808800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr5:146797200-146807200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr5:146797200-146808800	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr5:146797200-146810800	Weak transcription	Brain Anterior Caudate	brain
9	chr5:146797400-146807400	Weak transcription	NHDF-Ad	bronchial
10	chr5:146797400-146810800	Weak transcription	Spleen	Spleen
11	chr5:146797800-146805400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr5:146797800-146806000	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr5:146797800-146807200	Weak transcription	Psoas Muscle	Psoas
14	chr5:146797800-146811200	Weak transcription	Left Ventricle	heart
15	chr5:146798000-146805800	Weak transcription	Fetal Intestine Large	intestine
16	chr5:146798000-146810800	Weak transcription	Fetal Heart	heart
17	chr5:146798200-146805400	Weak transcription	Ovary	ovary
18	chr5:146798200-146806000	Weak transcription	Aorta	Aorta
19	chr5:146798200-146806200	Weak transcription	HUVEC	blood vessel
20	chr5:146798200-146806600	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr5:146798200-146806600	Weak transcription	Fetal Stomach	stomach
22	chr5:146798200-146806600	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr5:146798200-146806600	Weak transcription	NHLF	lung
24	chr5:146798200-146806600	Weak transcription	Osteobl	bone
25	chr5:146798200-146808800	Weak transcription	Adipose Nuclei	Adipose
26	chr5:146798200-146810600	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr5:146798200-146811200	Weak transcription	Fetal Lung	lung
28	chr5:146798200-146815600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr5:146798400-146811200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr5:146798800-146811200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr5:146799000-146806000	Weak transcription	Right Atrium	heart
32	chr5:146799000-146807200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr5:146799000-146808800	Weak transcription	Lung	lung
34	chr5:146799000-146818400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr5:146801400-146805800	Weak transcription	Primary neutrophils fromperipheralblood	blood
36	chr5:146802000-146806600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr5:146802000-146808800	Strong transcription	HUES64 Cell Line	embryonic stem cell
38	chr5:146802200-146805000	Strong transcription	Fetal Brain Female	brain
39	chr5:146802200-146807800	Strong transcription	HUES6 Cell Line	embryonic stem cell
40	chr5:146802600-146808200	Strong transcription	H1 Cell Line	embryonic stem cell
41	chr5:146802800-146805000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr5:146802800-146805000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr5:146803200-146806000	Weak transcription	Fetal Brain Male	brain
44	chr5:146803200-146810200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr5:146803400-146809000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr5:146803600-146811400	Weak transcription	Fetal Intestine Small	intestine
47	chr5:146803800-146808800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr5:146803800-146810400	Weak transcription	Fetal Muscle Leg	muscle
49	chr5:146804000-146805000	Strong transcription	NH-A	brain
50	chr5:146804200-146805800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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