Variant report

Variant	rs4267249
Chromosome Location	chr14:105358032-105358033
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	STAT5A	chr14:105357381-105358687	K562	blood:	n/a	chr14:105357662-105357674
2	POLR2A	chr14:105357845-105358033	K562	blood:	n/a	n/a
3	POLR2A	chr14:105357959-105358073	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr14:105357747-105358674	K562	blood:	n/a	n/a
5	POLR2A	chr14:105358005-105358505	HepG2	liver:	n/a	n/a
6	POLR2A	chr14:105357319-105358800	K562	blood:	n/a	n/a
7	POLR2A	chr14:105357493-105360907	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:105337782..105339687-chr14:105357084..105359181,2	MCF-7	breast:
2	chr14:105340925..105344300-chr14:105357578..105360032,4	MCF-7	breast:

Variant related genes	Relation type
CEP170B	TF binding region

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10145270	0.83[ASN][1000 genomes]
rs12894037	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2028416	0.84[ASN][1000 genomes]
rs56140783	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6576062	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7152667	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs920499	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530812	chr14:104775571-105364883	Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription 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 miRNA target site	98 gene(s)	inside rSNPs	diseases
2	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
3	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
4	nsv902389	chr14:105092479-105366499	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
5	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
6	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
7	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
8	nsv902412	chr14:105238701-105361934	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers 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	53 gene(s)	inside rSNPs	diseases
9	nsv902413	chr14:105246686-105366499	Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
10	esv1840298	chr14:105274292-105366499	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
11	nsv902416	chr14:105277209-105366499	Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
12	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
13	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
14	nsv902418	chr14:105323300-105361934	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
15	nsv566137	chr14:105332322-105359556	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
16	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
17	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
18	nsv566140	chr14:105347488-105359556	Strong transcription Weak transcription Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105339600-105363000	Weak transcription	NH-A	brain
2	chr14:105340000-105363600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr14:105347400-105362400	Weak transcription	HepG2	liver
4	chr14:105348000-105362600	Weak transcription	Brain Substantia Nigra	brain
5	chr14:105348800-105358600	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr14:105349400-105359600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr14:105350200-105361200	Weak transcription	Stomach Mucosa	stomach
8	chr14:105350600-105362000	Weak transcription	Small Intestine	intestine
9	chr14:105351000-105361800	Weak transcription	Rectal Smooth Muscle	rectum
10	chr14:105352200-105363800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr14:105352600-105365200	Weak transcription	Fetal Lung	lung
12	chr14:105353200-105363600	Weak transcription	Osteobl	bone
13	chr14:105353600-105360400	Weak transcription	HUVEC	blood vessel
14	chr14:105354000-105369800	Weak transcription	HSMMtube	muscle
15	chr14:105354200-105360400	Weak transcription	Left Ventricle	heart
16	chr14:105354400-105361600	Weak transcription	Colon Smooth Muscle	Colon
17	chr14:105354400-105362600	Weak transcription	Brain Hippocampus Middle	brain
18	chr14:105354400-105364600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr14:105354600-105359200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr14:105354600-105360000	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr14:105354600-105360200	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr14:105354600-105361600	Weak transcription	A549	lung
23	chr14:105354600-105362000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr14:105354600-105362200	Weak transcription	Brain Angular Gyrus	brain
25	chr14:105354600-105363600	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr14:105354800-105359000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr14:105354800-105360200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr14:105354800-105362200	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr14:105354800-105365400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr14:105355000-105359400	Weak transcription	NHLF	lung
31	chr14:105355200-105361000	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr14:105355200-105365200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr14:105355400-105367000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr14:105355600-105359200	Weak transcription	Colonic Mucosa	Colon
35	chr14:105355600-105359600	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr14:105355600-105360200	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr14:105355600-105361800	Weak transcription	Adipose Nuclei	Adipose
38	chr14:105355600-105362800	Weak transcription	Brain Cingulate Gyrus	brain
39	chr14:105355600-105363600	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr14:105355800-105358200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr14:105355800-105358800	Weak transcription	Brain Germinal Matrix	brain
42	chr14:105355800-105359400	Weak transcription	Duodenum Mucosa	Duodenum
43	chr14:105355800-105360200	Weak transcription	Brain Anterior Caudate	brain
44	chr14:105355800-105360200	Weak transcription	NHEK	skin
45	chr14:105356000-105358400	Weak transcription	Placenta	Placenta
46	chr14:105356000-105359200	Weak transcription	Esophagus	oesophagus
47	chr14:105356000-105359200	Weak transcription	Gastric	stomach
48	chr14:105356000-105359600	Weak transcription	Right Ventricle	heart
49	chr14:105356000-105360000	Weak transcription	Pancreas	Pancrea
50	chr14:105356000-105360200	Weak transcription	Fetal Intestine Large	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links