Variant report

Variant	rs10145934
Chromosome Location	chr14:103928819-103928820
allele	C/T
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	chr14:103928683-103928827	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:103923899..103929898-chr14:103931403..103935760,6	MCF-7	breast:

Variant related genes	Relation type
MARK3	TF binding region
ENSG00000075413	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10129401	1.00[AMR][1000 genomes]
rs10129621	1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10130887	1.00[ASW][hapmap];0.95[LWK][hapmap];0.96[MKK][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10134819	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10138787	0.80[LWK][hapmap];0.93[MKK][hapmap];0.94[YRI][hapmap];1.00[AMR][1000 genomes]
rs10139205	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10149860	1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10220595	1.00[AMR][1000 genomes]
rs11623869	0.89[YRI][hapmap]
rs12100454	1.00[AMR][1000 genomes]
rs28524598	1.00[AMR][1000 genomes]
rs28701683	1.00[AMR][1000 genomes]
rs28701880	1.00[AMR][1000 genomes]
rs28711428	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56324843	1.00[AMR][1000 genomes]
rs56666624	1.00[AMR][1000 genomes]
rs57987958	1.00[AMR][1000 genomes]
rs58869129	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61733762	1.00[AMR][1000 genomes]
rs7141712	1.00[ASW][hapmap];0.95[LWK][hapmap];0.96[MKK][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7148427	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7150651	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7155401	1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7158326	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7158972	1.00[AMR][1000 genomes]
rs73353046	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73359246	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73359248	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73359263	1.00[AMR][1000 genomes]
rs73359299	1.00[AMR][1000 genomes]
rs73359301	1.00[AMR][1000 genomes]
rs73361317	1.00[AMR][1000 genomes]
rs73361323	1.00[AMR][1000 genomes]
rs73361328	1.00[AMR][1000 genomes]
rs73361331	1.00[AMR][1000 genomes]
rs73361334	1.00[AMR][1000 genomes]
rs73361335	1.00[AMR][1000 genomes]
rs73361345	1.00[AMR][1000 genomes]
rs73361349	1.00[AMR][1000 genomes]
rs73365132	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8006030	1.00[AMR][1000 genomes]
rs8009277	1.00[AMR][1000 genomes]
rs8015505	1.00[AMR][1000 genomes]
rs879551	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	nsv832883	chr14:103927687-104120953	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:103879000-103941400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr14:103899200-103934400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr14:103912200-103930000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr14:103912200-103942200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr14:103912400-103931800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr14:103912600-103929600	Weak transcription	Brain Substantia Nigra	brain
7	chr14:103912600-103932000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr14:103913000-103929000	Weak transcription	Brain Germinal Matrix	brain
9	chr14:103913200-103929000	Weak transcription	Brain Angular Gyrus	brain
10	chr14:103913200-103929000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr14:103914800-103929200	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr14:103914800-103929600	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr14:103916800-103929000	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr14:103918200-103929200	Weak transcription	Brain Cingulate Gyrus	brain
15	chr14:103918600-103941400	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr14:103920000-103929000	Weak transcription	Colonic Mucosa	Colon
17	chr14:103920600-103929200	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr14:103922400-103939200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr14:103922400-103955000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr14:103922800-103940800	Weak transcription	Fetal Heart	heart
21	chr14:103923000-103929000	Weak transcription	Esophagus	oesophagus
22	chr14:103923000-103935800	Weak transcription	Psoas Muscle	Psoas
23	chr14:103923000-103941600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr14:103923000-103949400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr14:103923200-103929000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr14:103923200-103930200	Weak transcription	K562	blood
27	chr14:103923200-103930800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr14:103923200-103938200	Strong transcription	NHEK	skin
29	chr14:103923200-103976800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr14:103923600-103967000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr14:103923800-103938400	Strong transcription	Liver	Liver
32	chr14:103923800-103941400	Weak transcription	Small Intestine	intestine
33	chr14:103924000-103957400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr14:103924200-103929000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr14:103924400-103929200	Weak transcription	HUVEC	blood vessel
36	chr14:103924400-103937200	Weak transcription	Stomach Mucosa	stomach
37	chr14:103925200-103930600	Strong transcription	Muscle Satellite Cultured Cells	--
38	chr14:103925200-103930800	Strong transcription	Primary B cells from cord blood	blood
39	chr14:103925600-103958400	Strong transcription	Primary neutrophils fromperipheralblood	blood
40	chr14:103926000-103930800	Strong transcription	HSMM	muscle
41	chr14:103926200-103950400	Strong transcription	HUES6 Cell Line	embryonic stem cell
42	chr14:103926600-103938400	Strong transcription	HMEC	breast
43	chr14:103926800-103963400	Strong transcription	Fetal Intestine Large	intestine
44	chr14:103927200-103930800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
45	chr14:103927200-103938400	Strong transcription	Dnd41	blood
46	chr14:103927200-103942400	Weak transcription	Fetal Brain Male	brain
47	chr14:103927400-103929000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr14:103927400-103930600	Strong transcription	Fetal Muscle Leg	muscle
49	chr14:103927400-103930800	Strong transcription	GM12878-XiMat	blood
50	chr14:103927400-103930800	Strong transcription	Hela-S3	cervix

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