Variant report

Variant	rs9327100
Chromosome Location	chr5:118701875-118701876
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:118694003..118697109-chr5:118701584..118704422,3	K562	blood:
2	chr5:118696081..118700363-chr5:118700434..118704100,5	MCF-7	breast:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10055743	1.00[CEU][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.86[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10060971	1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[MEX][hapmap]
rs10064524	1.00[CEU][hapmap];0.91[MEX][hapmap]
rs10064668	0.83[AMR][1000 genomes]
rs10064783	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.80[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10069480	1.00[CEU][hapmap];0.86[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17145259	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[EUR][1000 genomes]
rs17145372	0.81[MEX][hapmap]
rs3733856	0.80[EUR][1000 genomes]
rs3797344	1.00[CEU][hapmap];0.91[MEX][hapmap]
rs3797345	1.00[CEU][hapmap];0.81[MEX][hapmap]
rs55682871	0.97[EUR][1000 genomes]
rs56206018	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs57598751	0.83[AMR][1000 genomes]
rs59406275	0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6595184	0.83[AMR][1000 genomes]
rs6860034	0.83[AMR][1000 genomes]
rs6862941	0.83[AMR][1000 genomes]
rs6869623	0.83[AMR][1000 genomes]
rs6876817	0.80[EUR][1000 genomes]
rs6880890	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6882000	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72788123	0.97[EUR][1000 genomes]
rs7701561	1.00[CEU][hapmap];0.81[MEX][hapmap]
rs7722172	0.85[CEU][hapmap]
rs7731552	0.92[EUR][1000 genomes]
rs7734378	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv16366	chr5:118692052-118702846	Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv599566	chr5:118698583-118702783	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv599567	chr5:118698983-118702783	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118692000-118707200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
2	chr5:118692800-118702000	Weak transcription	Aorta	Aorta
3	chr5:118693400-118706800	Enhancers	Primary T killer memory cells from peripheral blood	blood
4	chr5:118694000-118707200	Enhancers	Primary T helper naive cells from peripheral blood	blood
5	chr5:118694400-118702800	Genic enhancers	Primary B cells from peripheral blood	blood
6	chr5:118694400-118704600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr5:118694800-118703800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr5:118695000-118702000	Weak transcription	Colonic Mucosa	Colon
9	chr5:118695000-118702400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr5:118695200-118703000	Genic enhancers	Primary B cells from cord blood	blood
11	chr5:118695200-118706800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr5:118696000-118702400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr5:118696000-118704200	Weak transcription	Fetal Intestine Small	intestine
14	chr5:118696200-118702000	Weak transcription	Fetal Kidney	kidney
15	chr5:118696400-118703800	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr5:118696800-118703000	Weak transcription	A549	lung
17	chr5:118696800-118704400	Enhancers	HMEC	breast
18	chr5:118697000-118702000	Weak transcription	Small Intestine	intestine
19	chr5:118697000-118702400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr5:118697200-118702600	Weak transcription	Primary hematopoietic stem cells	blood
21	chr5:118697600-118702000	Weak transcription	Right Atrium	heart
22	chr5:118697600-118702400	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr5:118697600-118703000	Weak transcription	NHLF	lung
24	chr5:118697600-118703400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr5:118697600-118703600	Weak transcription	HSMM	muscle
26	chr5:118698000-118702000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr5:118698000-118702000	Weak transcription	Osteobl	bone
28	chr5:118698200-118702200	Weak transcription	K562	blood
29	chr5:118699200-118702000	Weak transcription	Esophagus	oesophagus
30	chr5:118699200-118702000	Weak transcription	Right Ventricle	heart
31	chr5:118699600-118704000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
32	chr5:118699800-118702000	Weak transcription	Placenta	Placenta
33	chr5:118699800-118705400	Weak transcription	Thymus	Thymus
34	chr5:118700200-118702000	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr5:118700200-118702000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr5:118700200-118702400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr5:118700200-118702400	Weak transcription	Spleen	Spleen
38	chr5:118700200-118704000	Enhancers	NHEK	skin
39	chr5:118700200-118713800	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr5:118700400-118702000	Weak transcription	Left Ventricle	heart
41	chr5:118700400-118703200	Enhancers	Primary T cells fromperipheralblood	blood
42	chr5:118700400-118705000	Enhancers	Primary T helper cells fromperipheralblood	blood
43	chr5:118700400-118705600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
44	chr5:118700800-118702400	Enhancers	Monocytes-CD14+_RO01746	blood
45	chr5:118700800-118702600	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
46	chr5:118700800-118702800	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
47	chr5:118700800-118704200	Enhancers	Primary monocytes fromperipheralblood	blood
48	chr5:118700800-118704400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr5:118700800-118705000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr5:118701000-118702000	Enhancers	Stomach Smooth Muscle	stomach

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