Variant report

Variant	rs34753498
Chromosome Location	chr14:105561112-105561113
allele	A/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	POLR2A	chr14:105557226-105561146	A549	lung:	n/a	n/a
2	GATA3	chr14:105560900-105561291	T-47D	breast:	n/a	n/a
3	EP300	chr14:105556632-105561231	ECC-1	luminal epithelium:	n/a	chr14:105559405-105559421 chr14:105557498-105557514 chr14:105559121-105559137 chr14:105557385-105557401 chr14:105556882-105556898 chr14:105559636-105559652 chr14:105558269-105558285
4	ZNF263	chr14:105560151-105561188	HEK293-T-REx	kidney:	n/a	chr14:105560830-105560851 chr14:105560857-105560878
5	ZBTB7A	chr14:105556759-105561147	ECC-1	luminal epithelium:	n/a	chr14:105559442-105559450 chr14:105557003-105557012
6	RCOR1	chr14:105561093-105561166	K562	blood:	n/a	n/a
7	POLR2A	chr14:105556570-105561156	ECC-1	luminal epithelium:	n/a	n/a
8	POLR2A	chr14:105556515-105561171	A549	lung:	n/a	n/a
9	MAX	chr14:105556152-105561164	A549	lung:	n/a	chr14:105558119-105558129 chr14:105560838-105560848 chr14:105561078-105561088 chr14:105558711-105558721 chr14:105558880-105558895 chr14:105559297-105559307 chr14:105559437-105559447 chr14:105558887-105558897

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C14orf79-2	chr14:105560857-105562105	XLOC_010952

Variant related genes	Relation type
ENSG00000257556	TF binding region

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12147310	0.85[EUR][1000 genomes]
rs56855842	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7146692	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	nsv902421	chr14:105410183-105574843	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer 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	73 gene(s)	inside rSNPs	diseases
6	nsv902422	chr14:105420215-105803170	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
7	nsv1052190	chr14:105423761-105722653	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
8	nsv902423	chr14:105430890-105803170	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
9	nsv1042303	chr14:105435649-105633544	Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
10	nsv456458	chr14:105435649-105690092	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS 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	77 gene(s)	inside rSNPs	diseases
11	nsv566150	chr14:105435649-105690092	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
12	nsv902424	chr14:105436222-105803170	Genic enhancers Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS 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	86 gene(s)	inside rSNPs	diseases
13	nsv456459	chr14:105459140-105617891	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
14	nsv566152	chr14:105459140-105617891	Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
15	nsv902425	chr14:105463936-105690092	Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
16	nsv9175	chr14:105496509-105688941	Enhancers Strong transcription Bivalent/Poised TSS Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
17	nsv902427	chr14:105508577-105585347	Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
18	esv2758369	chr14:105513346-105803170	Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
19	esv2760014	chr14:105513346-105803170	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105559000-105561200	Flanking Active TSS	Dnd41	blood
2	chr14:105560000-105561200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr14:105560200-105561200	Enhancers	Fetal Brain Male	brain
4	chr14:105560200-105561200	Enhancers	Fetal Heart	heart
5	chr14:105560400-105561200	Flanking Active TSS	Fetal Brain Female	brain
6	chr14:105560400-105561200	Flanking Active TSS	A549	lung
7	chr14:105560600-105561200	Enhancers	Primary B cells from cord blood	blood
8	chr14:105560600-105561200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr14:105560600-105561200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr14:105560600-105561200	Enhancers	Lung	lung
11	chr14:105560600-105561200	Enhancers	Pancreas	Pancrea
12	chr14:105560600-105561200	Bivalent Enhancer	Stomach Mucosa	stomach
13	chr14:105560800-105561200	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
14	chr14:105560800-105561200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
15	chr14:105560800-105561200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr14:105560800-105561200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr14:105560800-105561200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr14:105560800-105561200	Enhancers	Primary B cells from peripheral blood	blood
19	chr14:105560800-105561200	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr14:105560800-105561200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr14:105560800-105561200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr14:105560800-105561200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr14:105560800-105561200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr14:105560800-105561200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr14:105560800-105561200	Enhancers	Duodenum Mucosa	Duodenum
26	chr14:105560800-105561200	Enhancers	Fetal Intestine Large	intestine
27	chr14:105560800-105561200	Bivalent Enhancer	Fetal Muscle Leg	muscle
28	chr14:105560800-105561200	Enhancers	Placenta	Placenta
29	chr14:105560800-105561200	Bivalent Enhancer	Fetal Thymus	thymus
30	chr14:105560800-105561200	Active TSS	Rectal Smooth Muscle	rectum
31	chr14:105560800-105561200	Enhancers	Stomach Smooth Muscle	stomach
32	chr14:105560800-105561200	Enhancers	GM12878-XiMat	blood
33	chr14:105560800-105561200	Enhancers	NHLF	lung
34	chr14:105560800-105561800	Enhancers	Primary T cells fromperipheralblood	blood
35	chr14:105560800-105561800	Weak transcription	NHEK	skin
36	chr14:105560800-105564200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr14:105561000-105561200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr14:105561000-105561200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr14:105561000-105561200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
40	chr14:105561000-105561200	Enhancers	Primary T helper cells fromperipheralblood	blood
41	chr14:105561000-105561200	Enhancers	Primary T killer memory cells from peripheral blood	blood
42	chr14:105561000-105561200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr14:105561000-105561200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr14:105561000-105561200	Enhancers	Colonic Mucosa	Colon
45	chr14:105561000-105561200	Enhancers	Fetal Intestine Small	intestine
46	chr14:105561000-105561200	Enhancers	HMEC	breast
47	chr14:105561000-105563200	Weak transcription	Esophagus	oesophagus
48	chr14:105561000-105563400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr14:105561000-105564000	Weak transcription	Gastric	stomach
50	chr14:105561000-105564000	Weak transcription	Rectal Mucosa Donor 31	rectum

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