Variant report

Variant	rs9867379
Chromosome Location	chr3:118944496-118944497
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	chr3:118943120..118945710-chr3:118958108..118960423,2	K562	blood:

Variant related genes	Relation type
ENSG00000121578	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10511384	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12690556	0.84[ASN][1000 genomes]
rs12695382	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12695383	0.90[ASN][1000 genomes]
rs13070981	0.92[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs13091429	0.90[ASN][1000 genomes]
rs13094747	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13098659	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2001286	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28587867	0.83[ASN][1000 genomes]
rs28668839	0.86[ASN][1000 genomes]
rs28885082	0.84[ASN][1000 genomes]
rs35816234	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3752376	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3752377	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3796358	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs57446248	0.92[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs59140322	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs59448071	0.90[ASN][1000 genomes]
rs68103027	0.81[ASN][1000 genomes]
rs71325367	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7650288	0.90[ASN][1000 genomes]
rs9289125	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9812715	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9818595	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9824387	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9832248	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9834466	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9836230	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9837110	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9844382	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9849672	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9850349	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9857127	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9858124	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9862321	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9869645	0.84[ASN][1000 genomes]
rs9874573	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9879593	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9881379	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9881947	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3487859	chr3:118570588-119419623	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	esv3487860	chr3:118570588-119419623	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	esv18354	chr3:118855337-119000251	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv591362	chr3:118906442-118948155	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:118924400-118959000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr3:118924600-118945600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr3:118927000-118952600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr3:118927000-118953800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr3:118927000-118953800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr3:118927200-118953800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr3:118927200-118955200	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr3:118927400-118950200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr3:118927400-118953000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr3:118927600-118952400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr3:118927800-118956400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
12	chr3:118928000-118955600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr3:118928200-118951000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr3:118928800-118950000	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr3:118929200-118956200	Strong transcription	HUES48 Cell Line	embryonic stem cell
16	chr3:118929200-118956200	Strong transcription	HUES64 Cell Line	embryonic stem cell
17	chr3:118929200-118956400	Strong transcription	H1 Cell Line	embryonic stem cell
18	chr3:118929200-118956600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
19	chr3:118930000-118949800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr3:118930000-118955400	Strong transcription	Primary B cells from peripheral blood	blood
21	chr3:118930200-118955800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr3:118930200-118958400	Weak transcription	Hela-S3	cervix
23	chr3:118931600-118957400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr3:118931800-118946400	Genic enhancers	A549	lung
25	chr3:118932600-118955800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr3:118935800-118947600	Weak transcription	HUVEC	blood vessel
27	chr3:118936400-118945000	Weak transcription	NH-A	brain
28	chr3:118937200-118952600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr3:118938400-118944600	Weak transcription	Fetal Heart	heart
30	chr3:118938400-118947200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr3:118938400-118951200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr3:118938600-118945600	Weak transcription	Small Intestine	intestine
33	chr3:118938600-118947200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr3:118938600-118947800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr3:118939200-118947800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr3:118939400-118945200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr3:118940200-118950000	Strong transcription	Dnd41	blood
38	chr3:118940200-118950000	Strong transcription	GM12878-XiMat	blood
39	chr3:118941000-118944800	Weak transcription	Stomach Mucosa	stomach
40	chr3:118941000-118953000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr3:118941800-118944800	Weak transcription	Fetal Lung	lung
42	chr3:118941800-118952400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr3:118942000-118949800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr3:118942200-118945600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr3:118942400-118945000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr3:118942400-118945000	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr3:118942400-118945400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr3:118942400-118946200	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr3:118942400-118947200	Weak transcription	Fetal Brain Male	brain
50	chr3:118942800-118944800	Weak transcription	Brain Angular Gyrus	brain

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