Variant report

Variant	rs9822677
Chromosome Location	chr3:48521406-48521407
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	chr3:48513069..48515559-chr3:48519678..48521467,2	K562	blood:

Variant related genes	Relation type
ENSG00000164054	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10049154	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13062576	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13064619	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13091944	0.81[ASN][1000 genomes]
rs13094578	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13100178	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2006871	0.81[ASN][1000 genomes]
rs28563843	0.82[ASN][1000 genomes]
rs28881595	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3969942	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4075082	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6442127	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6765317	0.89[ASN][1000 genomes]
rs6785845	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6786424	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6806059	0.84[ASN][1000 genomes]
rs6809981	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7428949	0.95[ASN][1000 genomes]
rs7434077	0.95[ASN][1000 genomes]
rs7434107	0.95[ASN][1000 genomes]
rs7623614	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7640031	0.95[ASN][1000 genomes]
rs7644771	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9810549	0.82[ASN][1000 genomes]
rs9810991	0.82[ASN][1000 genomes]
rs9816942	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9835827	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9835902	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9837687	0.82[ASN][1000 genomes]
rs9848824	0.82[ASN][1000 genomes]
rs9849280	0.82[ASN][1000 genomes]
rs9850102	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9851743	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9851771	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9864729	0.82[ASN][1000 genomes]
rs9869698	0.82[ASN][1000 genomes]
rs9871608	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9882962	0.83[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	nsv834684	chr3:48385699-48589323	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv590242	chr3:48433635-48556339	Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
3	esv1802114	chr3:48498822-48577670	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1008232	chr3:48517121-48702416	Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
5	nsv523981	chr3:48520289-48721040	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:48514600-48535600	Weak transcription	Ovary	ovary
2	chr3:48514800-48541000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr3:48515000-48522600	Weak transcription	Brain Anterior Caudate	brain
4	chr3:48515000-48532800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr3:48515000-48533000	Weak transcription	NH-A	brain
6	chr3:48515000-48535600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr3:48515000-48535600	Weak transcription	Brain Substantia Nigra	brain
8	chr3:48515000-48537400	Weak transcription	NHLF	lung
9	chr3:48515000-48539600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr3:48515000-48539800	Weak transcription	Osteobl	bone
11	chr3:48515000-48540200	Weak transcription	NHDF-Ad	bronchial
12	chr3:48515000-48540400	Weak transcription	HSMM	muscle
13	chr3:48515000-48541000	Weak transcription	Aorta	Aorta
14	chr3:48515200-48522000	Weak transcription	Brain Cingulate Gyrus	brain
15	chr3:48515200-48535000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr3:48515200-48535000	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr3:48515200-48535600	Weak transcription	Brain Hippocampus Middle	brain
18	chr3:48515200-48535600	Weak transcription	Duodenum Mucosa	Duodenum
19	chr3:48515200-48537400	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr3:48515200-48538600	Weak transcription	Small Intestine	intestine
21	chr3:48515200-48539800	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr3:48515200-48540000	Weak transcription	Brain Angular Gyrus	brain
23	chr3:48515200-48540200	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr3:48515200-48540200	Weak transcription	HUVEC	blood vessel
25	chr3:48515200-48540400	Weak transcription	Fetal Brain Female	brain
26	chr3:48515200-48540600	Weak transcription	Brain Germinal Matrix	brain
27	chr3:48515200-48540600	Weak transcription	Fetal Lung	lung
28	chr3:48515400-48535600	Weak transcription	Fetal Muscle Leg	muscle
29	chr3:48515400-48538200	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr3:48516600-48535000	Weak transcription	Fetal Intestine Large	intestine
31	chr3:48516600-48535600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr3:48516800-48534200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr3:48516800-48535600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr3:48517000-48535600	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr3:48517200-48534400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr3:48517200-48537400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr3:48517200-48540400	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr3:48517200-48540400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr3:48518200-48521600	Enhancers	Fetal Thymus	thymus
40	chr3:48518200-48535600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr3:48518400-48532600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr3:48519200-48534200	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr3:48519400-48532600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr3:48519600-48538600	Weak transcription	Right Atrium	heart
45	chr3:48519600-48540200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr3:48519800-48522200	Enhancers	Primary T cells from cord blood	blood
47	chr3:48519800-48532800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr3:48519800-48532800	Weak transcription	Adipose Nuclei	Adipose
49	chr3:48519800-48539600	Weak transcription	Right Ventricle	heart
50	chr3:48520000-48532600	Weak transcription	Placenta	Placenta

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