Variant report

Variant	rs61998552
Chromosome Location	chr14:39739481-39739482
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RUNX3	chr14:39739136-39739522	GM12878	blood:	n/a	n/a
2	ZNF384	chr14:39739140-39739550	GM12878	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:39639538..39641336-chr14:39738634..39740819,2	MCF-7	breast:
2	chr14:39737724..39741488-chr14:39742832..39745249,3	K562	blood:
3	chr14:39565337..39567780-chr14:39737837..39739519,2	MCF-7	breast:
4	chr14:39733456..39736427-chr14:39738159..39742075,4	K562	blood:
5	chr14:39733186..39738068-chr14:39738751..39742738,6	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000258940	TF binding region
ENSG00000182400	Chromatin interaction
ENSG00000258940	Chromatin interaction
ENSG00000150527	Chromatin interaction
ENSG00000258941	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10872918	0.85[ASN][1000 genomes]
rs12881284	0.80[ASN][1000 genomes]
rs17109068	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17693410	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2274397	0.82[ASN][1000 genomes]
rs61398943	0.82[ASN][1000 genomes]
rs61998537	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61998549	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61998551	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61998554	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61998555	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62000665	0.81[ASN][1000 genomes]
rs6571908	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6571909	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7141921	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs715135	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7494635	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8017650	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053133	chr14:39657535-39770729	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats 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	16 gene(s)	inside rSNPs	diseases
2	nsv1037183	chr14:39736939-39949233	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers 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	39 gene(s)	inside rSNPs	diseases
3	nsv542048	chr14:39736939-39949233	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39737000-39741000	Weak transcription	Spleen	Spleen
2	chr14:39737000-39751800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr14:39737200-39741600	Weak transcription	Esophagus	oesophagus
4	chr14:39737800-39740000	Enhancers	Liver	Liver
5	chr14:39737800-39748800	Weak transcription	Right Ventricle	heart
6	chr14:39737800-39750800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr14:39737800-39763800	Weak transcription	Gastric	stomach
8	chr14:39738000-39739800	Enhancers	Primary T cells fromperipheralblood	blood
9	chr14:39738000-39739800	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr14:39738000-39740000	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr14:39738000-39740400	Enhancers	Primary T cells from cord blood	blood
12	chr14:39738000-39740400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
13	chr14:39738000-39740600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr14:39738000-39740600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr14:39738000-39740800	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr14:39738000-39740800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr14:39738000-39740800	Weak transcription	Brain Germinal Matrix	brain
18	chr14:39738000-39742400	Enhancers	Primary T killer memory cells from peripheral blood	blood
19	chr14:39738000-39742600	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr14:39738000-39744400	Weak transcription	Right Atrium	heart
21	chr14:39738000-39748800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr14:39738000-39750600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr14:39738000-39752000	Weak transcription	Stomach Mucosa	stomach
24	chr14:39738000-39763800	Weak transcription	HSMM	muscle
25	chr14:39738200-39739800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr14:39738200-39739800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr14:39738200-39739800	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr14:39738200-39739800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr14:39738200-39740000	Enhancers	Dnd41	blood
30	chr14:39738200-39740200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr14:39738200-39741000	Enhancers	Primary T helper naive cells from peripheral blood	blood
32	chr14:39738200-39741000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
33	chr14:39738200-39741000	Weak transcription	Fetal Stomach	stomach
34	chr14:39738200-39742000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr14:39738200-39745000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr14:39738200-39747000	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr14:39738200-39748800	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr14:39738200-39748800	Weak transcription	Fetal Kidney	kidney
39	chr14:39738200-39748800	Weak transcription	Stomach Smooth Muscle	stomach
40	chr14:39738200-39748800	Weak transcription	Osteobl	bone
41	chr14:39738200-39751800	Weak transcription	Colonic Mucosa	Colon
42	chr14:39738200-39751800	Weak transcription	Rectal Smooth Muscle	rectum
43	chr14:39738200-39759200	Weak transcription	NH-A	brain
44	chr14:39738200-39763800	Weak transcription	Brain Angular Gyrus	brain
45	chr14:39738200-39763800	Weak transcription	HSMMtube	muscle
46	chr14:39738200-39766200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr14:39738200-39813800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr14:39738400-39739800	Enhancers	Aorta	Aorta
49	chr14:39738400-39740200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
50	chr14:39738600-39740200	Genic enhancers	HepG2	liver

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