Variant report

Variant	rs2819417
Chromosome Location	chr14:105397850-105397851
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr14:105397780-105397930	NHEK	skin:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:105397847..105399946-chr14:105442912..105445708,2	MCF-7	breast:
2	chr14:105397107..105399280-chr14:105419920..105422847,2	MCF-7	breast:
3	chr14:105331442..105333912-chr14:105397463..105399152,2	MCF-7	breast:

Variant related genes	Relation type
PLD4	TF binding region
ENSG00000099814	Chromatin interaction
ENSG00000185567	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs2819423	0.83[AFR][1000 genomes]
rs2841271	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2841272	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57108735	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57308399	0.88[ASN][1000 genomes]
rs58153756	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60520694	0.86[EUR][1000 genomes]
rs61203074	0.88[ASN][1000 genomes]
rs61316883	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61745186	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs748358	0.89[AFR][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:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105391600-105398600	Weak transcription	Gastric	stomach
2	chr14:105394200-105398200	Weak transcription	Spleen	Spleen
3	chr14:105394200-105398800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr14:105394200-105399000	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr14:105394200-105399200	Weak transcription	Primary hematopoietic stem cells	blood
6	chr14:105394400-105398200	Weak transcription	Pancreas	Pancrea
7	chr14:105394400-105398600	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr14:105394400-105399000	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr14:105394400-105399000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr14:105394400-105399000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr14:105395000-105398800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
12	chr14:105395800-105399200	Weak transcription	Esophagus	oesophagus
13	chr14:105396000-105399000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr14:105396400-105398400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr14:105396400-105398800	Bivalent Enhancer	Fetal Muscle Leg	muscle
16	chr14:105396800-105399000	Weak transcription	Primary B cells from cord blood	blood
17	chr14:105397000-105399000	Bivalent Enhancer	Placenta	Placenta
18	chr14:105397400-105398400	Bivalent Enhancer	Fetal Stomach	stomach
19	chr14:105397600-105398000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr14:105397600-105399000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
21	chr14:105397600-105399200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr14:105397800-105398000	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
23	chr14:105397800-105398000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
24	chr14:105397800-105398200	Bivalent Enhancer	Fetal Intestine Small	intestine
25	chr14:105397800-105398400	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr14:105397800-105398400	Enhancers	Stomach Smooth Muscle	stomach
27	chr14:105397800-105398800	Weak transcription	Primary B cells from peripheral blood	blood
28	chr14:105397800-105399000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr14:105397800-105399800	Active TSS	Rectal Smooth Muscle	rectum

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