Variant report

Variant	rs12883668
Chromosome Location	chr14:103857950-103857951
allele	A/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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:103857798..103859771-chr14:103910641..103912679,2	K562	blood:
2	chr14:103842907..103844441-chr14:103856131..103859041,2	K562	blood:
3	chr14:103804940..103815889-chr14:103850459..103863829,28	K562	blood:
4	chr14:103794753..103806137-chr14:103849038..103864103,36	MCF-7	breast:
5	chr14:103851699..103854613-chr14:103856895..103861011,6	K562	blood:
6	chr14:103799041..103818802-chr14:103836567..103862153,82	K562	blood:
7	chr14:103797262..103804754-chr14:103849003..103864058,49	MCF-7	breast:
8	chr14:103850800..103853392-chr14:103855974..103862229,10	MCF-7	breast:
9	chr14:103857859..103859915-chr14:103987726..103989753,2	K562	blood:
10	chr14:103857465..103860376-chr14:103860397..103862103,2	K562	blood:
11	chr14:103857593..103860875-chr14:103861625..103865157,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000272533	Chromatin interaction
ENSG00000075413	Chromatin interaction
ENSG00000100664	Chromatin interaction
ENSG00000259775	Chromatin interaction
ENSG00000166165	Chromatin interaction

Extended variants
information (count: 82 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs10459573	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11160750	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11541718	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11625172	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12147655	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12185021	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12588705	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12879663	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12881583	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12885234	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12885714	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12885762	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12885786	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12888042	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12889703	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12892062	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12894275	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12896612	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12896832	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12896919	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13987	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17617094	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17617307	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17617832	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17617935	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17679729	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17680085	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1951389	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2065015	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2065016	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2065017	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2065018	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2246490	0.82[AMR][1000 genomes]
rs28711288	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34161327	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34347076	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34372508	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34479426	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34606394	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35056010	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35126287	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35224956	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35339837	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35344594	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35366629	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35443927	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35466180	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35771849	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs35799018	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35862113	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35999760	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3783396	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3783397	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3783398	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3783400	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4900574	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4900575	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4906323	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4906327	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4906330	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4906331	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4906332	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs55731474	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55930273	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs59858038	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7141674	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs71417863	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7143609	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7155822	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7155980	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7159665	0.89[AMR][1000 genomes]
rs7401563	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8004501	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs8004780	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8012127	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8012623	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042714	chr14:103085298-103860730	Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
2	nsv1049747	chr14:103126148-103955984	Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	113 gene(s)	inside rSNPs	diseases
3	nsv534254	chr14:103470073-104023906	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription 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 target site	125 gene(s)	inside rSNPs	diseases
4	nsv9168	chr14:103531729-103913306	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
5	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
6	nsv542200	chr14:103838939-103868007	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:103853000-103861800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr14:103853200-103860600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr14:103853600-103860200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr14:103853600-103860200	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr14:103853600-103860600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr14:103853600-103861800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr14:103853600-103864200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr14:103853800-103864400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr14:103853800-103867400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr14:103854000-103860200	Weak transcription	Colonic Mucosa	Colon
11	chr14:103854200-103859400	Weak transcription	Lung	lung
12	chr14:103854200-103859400	Weak transcription	HSMM	muscle
13	chr14:103854600-103858400	Weak transcription	Esophagus	oesophagus
14	chr14:103854600-103858600	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr14:103854600-103859600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr14:103854600-103859600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr14:103854600-103861800	Weak transcription	Aorta	Aorta
18	chr14:103854800-103858400	Weak transcription	Primary hematopoietic stem cells	blood
19	chr14:103854800-103860600	Weak transcription	Spleen	Spleen
20	chr14:103854800-103865200	Enhancers	Primary T cells fromperipheralblood	blood
21	chr14:103855000-103859600	Weak transcription	NH-A	brain
22	chr14:103855000-103860200	Weak transcription	Fetal Muscle Leg	muscle
23	chr14:103855000-103862400	Weak transcription	Placenta	Placenta
24	chr14:103855000-103868000	Weak transcription	Fetal Stomach	stomach
25	chr14:103855000-103874800	Weak transcription	Fetal Brain Male	brain
26	chr14:103855200-103858200	Weak transcription	Primary T cells from cord blood	blood
27	chr14:103855200-103858200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr14:103855200-103858200	Weak transcription	Fetal Lung	lung
29	chr14:103855200-103858200	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr14:103855200-103858200	Weak transcription	NHDF-Ad	bronchial
31	chr14:103855200-103858400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr14:103855200-103858400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr14:103855200-103858400	Weak transcription	Brain Angular Gyrus	brain
34	chr14:103855200-103858400	Weak transcription	Brain Substantia Nigra	brain
35	chr14:103855200-103858400	Weak transcription	Fetal Brain Female	brain
36	chr14:103855200-103858400	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr14:103855200-103858600	Weak transcription	Osteobl	bone
38	chr14:103855200-103858800	Weak transcription	Brain Hippocampus Middle	brain
39	chr14:103855200-103859400	Weak transcription	Duodenum Mucosa	Duodenum
40	chr14:103855200-103859400	Weak transcription	Right Atrium	heart
41	chr14:103855200-103859400	Weak transcription	K562	blood
42	chr14:103855200-103859600	Weak transcription	Fetal Heart	heart
43	chr14:103855200-103859600	Weak transcription	Rectal Smooth Muscle	rectum
44	chr14:103855200-103859600	Weak transcription	HUVEC	blood vessel
45	chr14:103855200-103859800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr14:103855200-103860000	Weak transcription	Fetal Muscle Trunk	muscle
47	chr14:103855200-103860200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr14:103855200-103860200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr14:103855200-103860200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr14:103855200-103860200	Weak transcription	NHLF	lung

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