Variant report

Variant	rs2144078
Chromosome Location	chr14:104184347-104184348
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:104181469-104185425	IMR90	lung:	n/a	n/a
2	POLR2A	chr14:104184125-104184498	K562	blood:	n/a	n/a
3	POLR2A	chr14:104184180-104184581	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr14:104092649..104097026-chr14:104179930..104185119,7	MCF-7	breast:
2	chr14:104182047..104187446-chr14:104194338..104198036,7	K562	blood:
3	chr14:104026026..104030833-chr14:104180410..104184978,6	MCF-7	breast:
4	chr14:104178608..104186342-chr14:104186894..104193138,16	K562	blood:
5	chr14:104183981..104185889-chr14:104225231..104228054,2	K562	blood:

No data

Variant related genes	Relation type
XRCC3	TF binding region
ENSG00000166170	Chromatin interaction
ENSG00000253096	Chromatin interaction
ENSG00000126214	Chromatin interaction
ENSG00000100711	Chromatin interaction
ENSG00000256053	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10134689	0.89[ASN][1000 genomes]
rs1103184	0.81[EUR][1000 genomes]
rs11160757	0.81[EUR][1000 genomes]
rs12891411	0.81[EUR][1000 genomes]
rs4900593	0.83[ASN][1000 genomes]
rs4906357	0.81[EUR][1000 genomes]
rs58451902	0.92[ASN][1000 genomes]
rs7149236	0.96[ASN][1000 genomes]
rs7154823	0.96[ASN][1000 genomes]
rs861529	0.91[AMR][1000 genomes]
rs861532	0.81[EUR][1000 genomes]
rs861540	0.81[EUR][1000 genomes]
rs861542	0.81[EUR][1000 genomes]
rs861549	0.81[EUR][1000 genomes]
rs861550	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3332028	chr14:103581471-104328811	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
2	nsv902300	chr14:103967504-104205811	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
3	nsv1052010	chr14:104061472-104216267	Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
4	nsv542201	chr14:104061472-104216267	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
5	nsv456435	chr14:104061646-104198251	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
6	nsv566023	chr14:104061646-104198251	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
7	nsv902308	chr14:104087209-104211180	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
8	nsv1041329	chr14:104097750-104196346	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
9	nsv542202	chr14:104097750-104196346	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
10	nsv1048866	chr14:104100862-104195896	Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
11	nsv1045162	chr14:104140525-104594841	Flanking Active TSS Strong transcription Bivalent Enhancer Enhancers Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
12	nsv542204	chr14:104140525-104594841	Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
13	nsv1041347	chr14:104141217-104186372	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
14	nsv902309	chr14:104143385-104198251	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
15	nsv902310	chr14:104143385-104205811	Genic enhancers Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
16	esv2758368	chr14:104147525-104412813	Active TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
17	esv2760013	chr14:104147525-104412813	Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
18	nsv902311	chr14:104148339-104205811	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
19	nsv902312	chr14:104155317-104211180	Strong transcription Flanking Active TSS Genic enhancers Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
20	nsv527425	chr14:104162263-104198251	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
21	nsv470673	chr14:104162263-104219949	Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
22	nsv902313	chr14:104162263-104378087	Bivalent Enhancer Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
23	nsv902315	chr14:104165927-104190527	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
24	nsv902316	chr14:104173823-104195161	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
25	nsv902317	chr14:104175676-104194278	Active TSS Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:104181200-104184800	Active TSS	Rectal Smooth Muscle	rectum
2	chr14:104182800-104185400	Enhancers	Fetal Brain Male	brain
3	chr14:104182800-104185600	Flanking Active TSS	Stomach Smooth Muscle	stomach
4	chr14:104183200-104184800	Enhancers	Liver	Liver
5	chr14:104183200-104185400	Enhancers	Left Ventricle	heart
6	chr14:104183200-104185400	Enhancers	Lung	lung
7	chr14:104183200-104185400	Enhancers	Pancreas	Pancrea
8	chr14:104183200-104185600	Enhancers	Fetal Heart	heart
9	chr14:104183200-104191800	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr14:104183400-104184400	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr14:104183400-104184400	Enhancers	Stomach Mucosa	stomach
12	chr14:104183400-104184600	Enhancers	Brain Substantia Nigra	brain
13	chr14:104183400-104184600	Weak transcription	Small Intestine	intestine
14	chr14:104183400-104184600	Enhancers	GM12878-XiMat	blood
15	chr14:104183400-104184800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr14:104183400-104185400	Enhancers	Placenta Amnion	Placenta Amnion
17	chr14:104183400-104185600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr14:104183400-104185600	Enhancers	Ovary	ovary
19	chr14:104183400-104186000	Enhancers	Duodenum Smooth Muscle	Duodenum
20	chr14:104183400-104186200	Genic enhancers	Fetal Stomach	stomach
21	chr14:104183400-104189400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr14:104183400-104192400	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr14:104183400-104195000	Weak transcription	Primary B cells from cord blood	blood
24	chr14:104183400-104200600	Weak transcription	Primary hematopoietic stem cells	blood
25	chr14:104183600-104184400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr14:104183600-104184400	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr14:104183600-104184400	Genic enhancers	Skeletal Muscle Male	skeletal muscle
28	chr14:104183600-104184400	Enhancers	HMEC	breast
29	chr14:104183600-104184600	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
30	chr14:104183600-104185000	Enhancers	Colon Smooth Muscle	Colon
31	chr14:104183600-104185000	Weak transcription	HSMMtube	muscle
32	chr14:104183600-104185000	Transcr. at gene 5' and 3'	NHEK	skin
33	chr14:104183600-104185200	Weak transcription	Primary B cells from peripheral blood	blood
34	chr14:104183600-104185400	Enhancers	Muscle Satellite Cultured Cells	--
35	chr14:104183600-104185400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr14:104183600-104185400	Enhancers	Brain Hippocampus Middle	brain
37	chr14:104183600-104185400	Enhancers	NHDF-Ad	bronchial
38	chr14:104183600-104185600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr14:104183600-104185600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr14:104183600-104185600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr14:104183600-104185600	Enhancers	Adipose Nuclei	Adipose
42	chr14:104183600-104185600	Enhancers	NH-A	brain
43	chr14:104183600-104187600	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr14:104183600-104187600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr14:104183600-104187600	Weak transcription	A549	lung
46	chr14:104183600-104187600	Weak transcription	Osteobl	bone
47	chr14:104183600-104189400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr14:104183600-104189400	Weak transcription	Psoas Muscle	Psoas
49	chr14:104183600-104189800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr14:104183600-104189800	Weak transcription	Aorta	Aorta

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