Variant report

Variant	rs61996025
Chromosome Location	chr14:105399975-105399976
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:105399436..105400309-chr14:105552835..105553556,2	MCF-7	breast:
2	chr14:105399205..105401135-chr14:105489654..105492411,2	MCF-7	breast:
3	chr14:105365193..105367745-chr14:105399799..105401436,2	K562	blood:
4	chr14:105362982..105363570-chr14:105399412..105400181,2	MCF-7	breast:
5	chr14:105393329..105396153-chr14:105398779..105401055,3	MCF-7	breast:
6	chr14:105399823..105400369-chr14:105511778..105512655,3	MCF-7	breast:
7	chr14:105375706..105377336-chr14:105399096..105400699,2	MCF-7	breast:
8	chr14:105399321..105400390-chr14:105511737..105512711,3	K562	blood:
9	chr14:105399502..105400009-chr19:33793130..33793745,2	HCT-116	colon:
10	chr14:105399483..105402053-chr14:105402231..105403735,2	MCF-7	breast:
11	chr14:105398736..105403202-chr14:105431579..105436953,6	MCF-7	breast:
12	chr14:105398840..105402135-chr14:105423492..105426295,4	MCF-7	breast:
13	chr14:105284508..105286639-chr14:105398983..105401312,2	MCF-7	breast:
14	chr14:105380860..105383186-chr14:105398917..105400427,2	MCF-7	breast:
15	chr14:105399113..105400840-chr14:105456852..105459297,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000230259	Chromatin interaction
ENSG00000140104	Chromatin interaction
ENSG00000245848	Chromatin interaction
ENSG00000185567	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10083374	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10083490	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10083496	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10149193	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10152073	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1036713	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10438246	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10438247	0.84[AMR][1000 genomes]
rs1048257	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11160825	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11623422	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11850949	0.80[AMR][1000 genomes]
rs11851053	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12885004	0.87[AMR][1000 genomes]
rs2582529	0.84[AMR][1000 genomes]
rs2582533	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2819419	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2819422	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2819424	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2819468	0.86[AMR][1000 genomes]
rs2819469	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28380382	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2841269	0.90[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2841276	0.90[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2841277	0.81[AMR][1000 genomes]
rs2841278	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2841280	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2841281	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28454709	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28600075	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2919624	0.80[AMR][1000 genomes]
rs3001424	0.81[AMR][1000 genomes]
rs3742935	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4264326	0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4465542	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9671643	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9672139	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 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
13	esv3322061	chr14:105398932-105401780	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
14	esv3388599	chr14:105399207-105401355	Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105398400-105400000	Bivalent/Poised TSS	Osteobl	bone
2	chr14:105398400-105400800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
3	chr14:105398800-105400600	Enhancers	Primary B cells from peripheral blood	blood
4	chr14:105398800-105400800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
5	chr14:105398800-105400800	Active TSS	Brain Angular Gyrus	brain
6	chr14:105399000-105400000	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr14:105399000-105400000	Active TSS	Muscle Satellite Cultured Cells	--
8	chr14:105399000-105400000	Bivalent/Poised TSS	Fetal Brain Female	brain
9	chr14:105399000-105400400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
10	chr14:105399000-105400400	Active TSS	Aorta	Aorta
11	chr14:105399000-105400400	Active TSS	Right Atrium	heart
12	chr14:105399200-105400000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
13	chr14:105399200-105400000	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
14	chr14:105399200-105400000	Active TSS	Brain Hippocampus Middle	brain
15	chr14:105399200-105400000	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr14:105399200-105400000	Bivalent/Poised TSS	Thymus	Thymus
17	chr14:105399200-105400200	Active TSS	Left Ventricle	heart
18	chr14:105399200-105400400	Active TSS	Right Ventricle	heart
19	chr14:105399200-105400600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
20	chr14:105399200-105400600	Bivalent/Poised TSS	Colonic Mucosa	Colon
21	chr14:105399200-105400800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr14:105399400-105400000	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr14:105399400-105400000	Active TSS	Primary hematopoietic stem cells short term culture	blood
24	chr14:105399400-105400000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr14:105399400-105400000	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr14:105399400-105400000	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr14:105399400-105400600	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr14:105399400-105401000	Active TSS	Stomach Smooth Muscle	stomach
29	chr14:105399600-105400000	Bivalent/Poised TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr14:105399600-105400000	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr14:105399600-105400000	Active TSS	Primary hematopoietic stem cells	blood
32	chr14:105399600-105400000	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr14:105399600-105400000	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr14:105399600-105400000	Active TSS	Pancreas	Pancrea
35	chr14:105399600-105400000	Bivalent/Poised TSS	HepG2	liver
36	chr14:105399600-105400000	Active TSS	Monocytes-CD14+_RO01746	blood
37	chr14:105399600-105400400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
38	chr14:105399600-105400400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr14:105399600-105400400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
40	chr14:105399600-105400400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr14:105399600-105400400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr14:105399600-105400400	Active TSS	Psoas Muscle	Psoas
43	chr14:105399600-105400600	Active TSS	Primary T helper cells fromperipheralblood	blood
44	chr14:105399600-105400600	Active TSS	Adipose Nuclei	Adipose
45	chr14:105399600-105400600	Bivalent/Poised TSS	Brain Germinal Matrix	brain
46	chr14:105399600-105400800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr14:105399600-105406800	Weak transcription	Spleen	Spleen
48	chr14:105399800-105400000	Bivalent/Poised TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr14:105399800-105400000	Bivalent/Poised TSS	Cortex derived primary cultured neurospheres	brain
50	chr14:105399800-105400000	Bivalent/Poised TSS	Fetal Muscle Leg	muscle

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