Variant report

Variant	rs512599
Chromosome Location	chr5:14197127-14197128
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:14190950..14193183-chr5:14195167..14198577,4	MCF-7	breast:
2	chr5:14186990..14191289-chr5:14196188..14199111,4	MCF-7	breast:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10513170	1.00[CEU][hapmap]
rs163817	1.00[JPT][hapmap]
rs164005	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs164007	0.82[CEU][hapmap];1.00[JPT][hapmap]
rs248927	1.00[JPT][hapmap]
rs26116	1.00[CEU][hapmap];0.83[YRI][hapmap];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs26117	1.00[CEU][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs26118	1.00[CEU][hapmap];0.83[YRI][hapmap];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs26130	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs26131	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs26132	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs26133	0.83[ASN][1000 genomes]
rs26134	0.83[ASN][1000 genomes]
rs26135	0.83[ASN][1000 genomes]
rs26291	0.83[ASN][1000 genomes]
rs32569	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs32570	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs354280	1.00[CEU][hapmap]
rs9885134	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv516415	chr5:13788886-14210897	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv534466	chr5:13847044-14246208	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	esv1830112	chr5:14147376-14222601	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	esv1825924	chr5:14147376-14270450	Flanking Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv830209	chr5:14154989-14301758	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv948355	chr5:14160447-14395478	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
7	esv1792551	chr5:14180257-14202590	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14184400-14197200	Weak transcription	Duodenum Mucosa	Duodenum
2	chr5:14184600-14202600	Weak transcription	Fetal Intestine Small	intestine
3	chr5:14186000-14199800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr5:14186000-14200000	Weak transcription	Esophagus	oesophagus
5	chr5:14188000-14199800	Weak transcription	Brain Cingulate Gyrus	brain
6	chr5:14188800-14204000	Weak transcription	Fetal Kidney	kidney
7	chr5:14189000-14203600	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr5:14190800-14199600	Weak transcription	Brain Anterior Caudate	brain
9	chr5:14190800-14199800	Weak transcription	HepG2	liver
10	chr5:14191200-14197200	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr5:14191200-14199600	Weak transcription	Brain Angular Gyrus	brain
12	chr5:14191200-14200200	Weak transcription	Fetal Muscle Trunk	muscle
13	chr5:14191400-14197200	Weak transcription	Gastric	stomach
14	chr5:14191400-14197200	Weak transcription	Lung	lung
15	chr5:14191400-14202600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr5:14191600-14197200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr5:14191600-14199600	Weak transcription	GM12878-XiMat	blood
18	chr5:14191600-14199800	Weak transcription	Pancreas	Pancrea
19	chr5:14191600-14202200	Weak transcription	Primary B cells from peripheral blood	blood
20	chr5:14191800-14201600	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr5:14192000-14197200	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr5:14192200-14208000	Weak transcription	Hela-S3	cervix
23	chr5:14192400-14199000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr5:14192800-14197400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr5:14193800-14200800	Genic enhancers	HSMM	muscle
26	chr5:14194200-14198600	Weak transcription	Right Ventricle	heart
27	chr5:14194200-14199600	Weak transcription	Spleen	Spleen
28	chr5:14194200-14199800	Weak transcription	Small Intestine	intestine
29	chr5:14194200-14200000	Weak transcription	Fetal Stomach	stomach
30	chr5:14194600-14197400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr5:14194800-14202200	Weak transcription	Primary B cells from cord blood	blood
32	chr5:14195000-14198000	Enhancers	NHLF	lung
33	chr5:14195200-14197400	Enhancers	HUVEC	blood vessel
34	chr5:14195200-14197600	Enhancers	Fetal Brain Female	brain
35	chr5:14195200-14200600	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr5:14195400-14197200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr5:14195400-14197600	Enhancers	Ovary	ovary
38	chr5:14195600-14197600	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr5:14195600-14199600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr5:14195600-14199800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr5:14195600-14200600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr5:14195800-14200600	Genic enhancers	NH-A	brain
43	chr5:14196000-14197200	Weak transcription	Left Ventricle	heart
44	chr5:14196000-14197800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr5:14196000-14198600	Genic enhancers	NHDF-Ad	bronchial
46	chr5:14196200-14197600	Enhancers	Fetal Muscle Leg	muscle
47	chr5:14196400-14197400	Genic enhancers	Muscle Satellite Cultured Cells	--
48	chr5:14196400-14197400	Genic enhancers	HSMMtube	muscle
49	chr5:14196400-14197800	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr5:14196400-14197800	Enhancers	Osteobl	bone

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