Variant report

Variant	rs9548318
Chromosome Location	chr13:38931144-38931145
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:38926354..38928723-chr13:38929621..38932377,2	MCF-7	breast:
2	chr13:38913197..38918401-chr13:38928849..38932713,4	K562	blood:
3	chr13:38915558..38922004-chr13:38925835..38933064,8	K562	blood:
4	chr13:38919358..38926299-chr13:38929248..38934915,10	MCF-7	breast:
5	chr13:38928713..38933480-chr13:38933569..38937832,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000120686	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10507469	1.00[CHD][hapmap]
rs10514844	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs11693	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1330958	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1330960	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1330963	1.00[CHB][hapmap]
rs1330964	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1330965	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1330976	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs1360385	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1553300	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1576610	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1576611	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1980984	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2019520	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2150468	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2150469	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2231323	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2231328	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2231330	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2231331	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs2231332	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2455412	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2481876	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2481877	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2481879	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2481880	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2485779	1.00[CHD][hapmap]
rs2485783	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2485785	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2485786	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2485788	0.81[EUR][1000 genomes]
rs2485789	1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2496456	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2496466	1.00[CHB][hapmap]
rs2496473	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2496475	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2496476	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4943581	0.83[ASN][1000 genomes]
rs4943583	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4943584	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4943585	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4943586	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6563608	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6563609	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7325018	0.91[AFR][1000 genomes]
rs7326028	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7326913	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7332974	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7335723	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7338958	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9285122	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9532209	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9532218	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9548320	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9603368	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs986773	1.00[CHB][hapmap];0.94[YRI][hapmap];0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9888482	1.00[CHD][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	nsv915901	chr13:38199035-39032633	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv869125	chr13:38550449-39132813	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv949406	chr13:38561474-39033484	Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv900005	chr13:38881318-38932949	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv976234	chr13:38924727-38933604	Flanking Active TSS Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv900006	chr13:38924871-38970825	Genic enhancers ZNF genes & repeats Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
7	esv1851668	chr13:38928976-38948851	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:38924400-38938800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr13:38924800-38936400	Weak transcription	Esophagus	oesophagus
3	chr13:38924800-38937000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr13:38924800-38937200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr13:38924800-38937400	Weak transcription	Gastric	stomach
6	chr13:38924800-38939000	Weak transcription	Lung	lung
7	chr13:38924800-38939400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr13:38925000-38936800	Weak transcription	Aorta	Aorta
9	chr13:38925000-38937400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr13:38925200-38939600	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr13:38925400-38931800	Strong transcription	Placenta	Placenta
12	chr13:38925400-38934800	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr13:38925400-38937200	Strong transcription	HUES64 Cell Line	embryonic stem cell
14	chr13:38925400-38937200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr13:38925400-38937800	Weak transcription	Pancreas	Pancrea
16	chr13:38925600-38931800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
17	chr13:38925600-38937800	Strong transcription	HUES48 Cell Line	embryonic stem cell
18	chr13:38925600-38938000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr13:38925600-38938000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr13:38925600-38939200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr13:38925800-38931400	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr13:38925800-38931800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr13:38925800-38935600	Weak transcription	Stomach Mucosa	stomach
24	chr13:38925800-38935800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr13:38925800-38938400	Weak transcription	Fetal Stomach	stomach
26	chr13:38925800-38939000	Weak transcription	Spleen	Spleen
27	chr13:38925800-38939400	Weak transcription	Thymus	Thymus
28	chr13:38925800-38939800	Weak transcription	Small Intestine	intestine
29	chr13:38926000-38931800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
30	chr13:38926000-38932200	Strong transcription	HUES6 Cell Line	embryonic stem cell
31	chr13:38926000-38933000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr13:38926000-38933600	Strong transcription	Primary B cells from cord blood	blood
33	chr13:38926000-38935000	Weak transcription	Brain Cingulate Gyrus	brain
34	chr13:38926000-38935800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr13:38926000-38937200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr13:38926000-38937200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr13:38926000-38937600	Weak transcription	Colonic Mucosa	Colon
38	chr13:38926000-38937600	Strong transcription	HMEC	breast
39	chr13:38926000-38938000	Strong transcription	Osteobl	bone
40	chr13:38926000-38938800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr13:38926000-38939000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr13:38926000-38939200	Weak transcription	Psoas Muscle	Psoas
43	chr13:38926000-38939400	Weak transcription	Brain Angular Gyrus	brain
44	chr13:38926000-38939800	Weak transcription	Brain Germinal Matrix	brain
45	chr13:38926200-38932000	Strong transcription	Muscle Satellite Cultured Cells	--
46	chr13:38926200-38933800	Strong transcription	NHDF-Ad	bronchial
47	chr13:38926200-38935600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr13:38926200-38935600	Weak transcription	Rectal Smooth Muscle	rectum
49	chr13:38926200-38938000	Strong transcription	HSMM	muscle
50	chr13:38926200-38938000	Strong transcription	NH-A	brain

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