Variant report

Variant	rs12434585
Chromosome Location	chr14:65938368-65938369
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	ZNF384	chr14:65938279-65938619	K562	blood:	n/a	n/a
2	TAL1	chr14:65938269-65938525	K562	blood:	n/a	n/a
3	NR2F2	chr14:65938247-65938553	K562	blood:	n/a	n/a
4	JUN	chr14:65938199-65938512	K562	blood:	n/a	n/a
5	MYC	chr14:65938353-65938474	K562	blood:	n/a	n/a
6	RCOR1	chr14:65938282-65938496	K562	blood:	n/a	n/a
7	RCOR1	chr14:65938349-65938445	K562	blood:	n/a	n/a

Variant related genes	Relation type
RPL21P8	TF binding region

Extended variants
information (count: 76 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10138765	0.85[EUR][1000 genomes]
rs11844747	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.86[AFR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11845794	1.00[CEU][hapmap];0.90[CHB][hapmap]
rs11849252	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs11849862	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs11850160	1.00[CEU][hapmap];0.90[CHB][hapmap]
rs11850163	1.00[CEU][hapmap]
rs11850847	1.00[CEU][hapmap];0.83[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11851013	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11851772	1.00[CEU][hapmap];0.83[JPT][hapmap];0.81[YRI][hapmap];0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12431420	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12433827	1.00[CEU][hapmap];0.81[CHB][hapmap];0.82[JPT][hapmap];0.89[EUR][1000 genomes]
rs12434854	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12435908	1.00[CEU][hapmap]
rs12437427	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17246007	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17246035	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.86[AFR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17246042	0.86[AFR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17246259	0.83[EUR][1000 genomes]
rs17826580	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17826724	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs17826736	1.00[CEU][hapmap]
rs17826790	0.85[EUR][1000 genomes]
rs17826796	0.85[EUR][1000 genomes]
rs17826820	0.81[AMR][1000 genomes]
rs1953417	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1998035	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes]
rs2073294	1.00[CEU][hapmap];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2152375	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2184602	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2268957	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes]
rs2268958	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs56156482	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs57201867	0.85[EUR][1000 genomes]
rs57451368	0.87[EUR][1000 genomes]
rs58032513	0.81[EUR][1000 genomes]
rs58115860	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs59117465	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs59204447	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs59561356	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs59676254	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59685862	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs59822422	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs59921977	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs60396689	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60554055	0.87[EUR][1000 genomes]
rs60852857	0.82[ASN][1000 genomes]
rs60927973	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60942639	0.85[EUR][1000 genomes]
rs61315421	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61533229	0.89[EUR][1000 genomes]
rs7140261	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7145574	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7150362	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7150564	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7153679	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73268512	0.83[EUR][1000 genomes]
rs73268521	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73268524	0.85[EUR][1000 genomes]
rs73282260	0.81[EUR][1000 genomes]
rs73284121	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73284133	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73284143	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73286118	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73286169	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73286173	0.83[EUR][1000 genomes]
rs8005309	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8018909	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs884247	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9635251	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[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	nsv1036403	chr14:65724229-66208114	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
2	nsv1043943	chr14:65782466-66698411	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases
3	nsv542120	chr14:65782466-66698411	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases
4	nsv1039168	chr14:65811750-66308343	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
5	esv3366524	chr14:65924360-66423862	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
6	nsv976347	chr14:65929311-65939441	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65911200-65942400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr14:65913800-65942400	Weak transcription	Left Ventricle	heart
3	chr14:65920800-65942400	Weak transcription	Stomach Mucosa	stomach
4	chr14:65923400-65945000	Weak transcription	NHDF-Ad	bronchial
5	chr14:65925800-65943200	Weak transcription	Thymus	Thymus
6	chr14:65928600-65949400	Weak transcription	Psoas Muscle	Psoas
7	chr14:65928800-65938800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr14:65929200-65939800	Weak transcription	Primary hematopoietic stem cells	blood
9	chr14:65929800-65939200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr14:65929800-65943600	Weak transcription	HSMMtube	muscle
11	chr14:65929800-65944800	Weak transcription	NH-A	brain
12	chr14:65929800-65945400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr14:65930600-65940200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr14:65930600-65942800	Weak transcription	Primary T cells from cord blood	blood
15	chr14:65931400-65966200	Weak transcription	Aorta	Aorta
16	chr14:65934000-65944400	Weak transcription	HMEC	breast
17	chr14:65934800-65939200	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr14:65934800-65939400	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr14:65935200-65939200	Enhancers	Brain Substantia Nigra	brain
20	chr14:65935400-65939000	Strong transcription	Dnd41	blood
21	chr14:65935800-65939400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr14:65935800-65941000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr14:65935800-65942600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr14:65936000-65939000	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr14:65936000-65939600	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr14:65936200-65938800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
27	chr14:65936200-65939200	Enhancers	H1 Cell Line	embryonic stem cell
28	chr14:65936200-65939200	Enhancers	Brain Hippocampus Middle	brain
29	chr14:65936400-65938400	Enhancers	Primary T cells fromperipheralblood	blood
30	chr14:65936400-65939000	Enhancers	Primary T helper cells PMA-I stimulated	--
31	chr14:65936600-65938400	Enhancers	Primary T helper cells fromperipheralblood	blood
32	chr14:65936600-65938800	Enhancers	Adipose Nuclei	Adipose
33	chr14:65936600-65939000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr14:65936600-65957400	Weak transcription	Primary B cells from cord blood	blood
35	chr14:65936800-65938400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
36	chr14:65936800-65938400	Enhancers	Spleen	Spleen
37	chr14:65936800-65939000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr14:65937200-65938400	Enhancers	Primary B cells from peripheral blood	blood
39	chr14:65937200-65938800	Weak transcription	Pancreas	Pancrea
40	chr14:65937200-65939000	Enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr14:65937200-65939200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr14:65937200-65949600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr14:65937400-65938400	Flanking Active TSS	GM12878-XiMat	blood
44	chr14:65937400-65938800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr14:65937400-65938800	Weak transcription	Brain Germinal Matrix	brain
46	chr14:65937400-65939000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr14:65937400-65939000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
48	chr14:65937400-65939200	Enhancers	Small Intestine	intestine
49	chr14:65937400-65939400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr14:65937400-65942200	Weak transcription	Fetal Intestine Small	intestine

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