Variant report

Variant	rs2819464
Chromosome Location	chr14:105391897-105391898
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:105391507..105394096-chr14:105419228..105421927,2	MCF-7	breast:
2	chr14:105389558..105391968-chr14:105443207..105445217,2	MCF-7	breast:
3	chr14:105391640..105393998-chr14:105436679..105438519,2	MCF-7	breast:
4	chr14:105387917..105389579-chr14:105391282..105393689,2	K562	blood:

Variant related genes	Relation type
ENSG00000185567	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs2582530	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2582532	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs3001423	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053591	chr14:105024558-105475931	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
2	nsv542224	chr14:105024558-105475931	Bivalent Enhancer Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
3	esv1828345	chr14:105100787-105803170	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
4	nsv542225	chr14:105133688-105803170	Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
5	nsv542227	chr14:105157572-105803170	Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	147 gene(s)	inside rSNPs	diseases
6	nsv456456	chr14:105285159-105412541	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
7	nsv566099	chr14:105285159-105412541	Bivalent Enhancer Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
8	nsv917106	chr14:105339195-105803170	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
9	nsv566139	chr14:105347296-105417147	Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
10	nsv902419	chr14:105381763-105494262	Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
11	nsv1049253	chr14:105384959-105471855	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
12	nsv542228	chr14:105390569-105459912	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105390800-105392600	Enhancers	Placenta	Placenta
2	chr14:105390800-105393600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
3	chr14:105390800-105393600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr14:105390800-105393600	Flanking Active TSS	GM12878-XiMat	blood
5	chr14:105390800-105393600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
6	chr14:105390800-105394000	Flanking Active TSS	Primary B cells from cord blood	blood
7	chr14:105391000-105392000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr14:105391000-105392200	Active TSS	Rectal Mucosa Donor 29	rectum
9	chr14:105391000-105393200	Flanking Active TSS	Primary hematopoietic stem cells	blood
10	chr14:105391000-105394000	Weak transcription	Stomach Smooth Muscle	stomach
11	chr14:105391000-105395400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr14:105391200-105392600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
13	chr14:105391200-105393000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
14	chr14:105391200-105393600	Flanking Active TSS	Primary B cells from peripheral blood	blood
15	chr14:105391200-105393600	Enhancers	Adipose Nuclei	Adipose
16	chr14:105391200-105393600	Active TSS	Brain Hippocampus Middle	brain
17	chr14:105391200-105394200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
18	chr14:105391400-105392400	Active TSS	Brain Anterior Caudate	brain
19	chr14:105391400-105392600	Enhancers	Fetal Intestine Large	intestine
20	chr14:105391600-105392000	Enhancers	Fetal Muscle Leg	muscle
21	chr14:105391600-105392200	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr14:105391600-105392600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr14:105391600-105393000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr14:105391600-105394200	Enhancers	Fetal Thymus	thymus
25	chr14:105391600-105395000	Enhancers	Fetal Intestine Small	intestine
26	chr14:105391600-105398600	Weak transcription	Gastric	stomach
27	chr14:105391800-105392200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
28	chr14:105391800-105392200	Bivalent Enhancer	Duodenum Mucosa	Duodenum
29	chr14:105391800-105392400	Active TSS	Brain Substantia Nigra	brain
30	chr14:105391800-105392600	Enhancers	Colonic Mucosa	Colon
31	chr14:105391800-105394200	Enhancers	Spleen	Spleen

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