Variant report

Variant	rs7018854
Chromosome Location	chr9:71530257-71530258
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:71525845..71528360-chr9:71529223..71531031,2	MCF-7	breast:

Extended variants
information (count: 94 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs10117789	1.00[JPT][hapmap]
rs10119445	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs10121974	1.00[JPT][hapmap]
rs10869323	0.82[EUR][1000 genomes]
rs10869538	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11143715	0.84[CEU][hapmap]
rs11143739	0.89[JPT][hapmap]
rs11143755	0.88[JPT][hapmap]
rs11143761	0.87[CEU][hapmap]
rs11143951	0.87[CEU][hapmap]
rs11143975	0.86[CHB][hapmap];0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs11143976	0.86[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs11143977	0.81[ASN][1000 genomes]
rs11144136	0.87[CEU][hapmap]
rs11144178	0.87[CEU][hapmap]
rs11144206	0.81[CEU][hapmap]
rs11144305	0.87[CEU][hapmap]
rs11144313	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11144351	0.86[CEU][hapmap]
rs12003432	0.81[CEU][hapmap]
rs12336788	0.99[ASN][1000 genomes]
rs12336829	0.99[ASN][1000 genomes]
rs12337137	0.86[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs12338217	0.88[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs12339235	0.82[CEU][hapmap]
rs12341382	0.86[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs12341508	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs12341625	0.86[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs12345359	0.88[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs12348156	0.96[ASN][1000 genomes]
rs12348451	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.96[ASN][1000 genomes]
rs12349555	0.96[ASN][1000 genomes]
rs12349647	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.96[ASN][1000 genomes]
rs12350004	0.96[ASN][1000 genomes]
rs12350205	0.88[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs12351476	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.96[ASN][1000 genomes]
rs12351485	1.00[CHB][hapmap];0.90[YRI][hapmap];0.96[ASN][1000 genomes]
rs12351519	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.96[ASN][1000 genomes]
rs12352746	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs1414945	0.86[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs1414954	0.87[CEU][hapmap]
rs17391456	0.87[CEU][hapmap]
rs2027023	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs2039624	0.89[JPT][hapmap]
rs28371821	0.96[ASN][1000 genomes]
rs28375745	0.97[ASN][1000 genomes]
rs28406181	0.81[ASN][1000 genomes]
rs28444745	0.99[ASN][1000 genomes]
rs3750375	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs3750376	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs3763607	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs3829061	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs4237272	0.88[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs61547334	0.94[ASN][1000 genomes]
rs6560418	0.86[ASN][1000 genomes]
rs7019202	0.88[CEU][hapmap];0.89[JPT][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7024695	0.94[CEU][hapmap];0.89[JPT][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7027620	0.86[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs7035068	0.86[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs7035892	0.94[CEU][hapmap];0.89[JPT][hapmap];0.82[YRI][hapmap];0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7037674	1.00[JPT][hapmap]
rs7041194	0.94[ASN][1000 genomes]
rs7046642	0.86[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs7047250	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.96[ASN][1000 genomes]
rs7048275	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs7847379	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs7849727	0.86[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs7851905	0.88[JPT][hapmap]
rs7852244	0.89[JPT][hapmap]
rs7855274	0.86[JPT][hapmap]
rs7859396	1.00[CHB][hapmap];0.99[ASN][1000 genomes]
rs7863960	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs7865800	0.86[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs7870383	0.86[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs7875472	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs953036	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2422258	chr9:71234845-71663340	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv1017903	chr9:71276951-71690579	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv1051723	chr9:71398713-71971285	Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv1053402	chr9:71399722-71819949	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
5	nsv540146	chr9:71399722-71819949	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
6	nsv1043689	chr9:71399922-71800338	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
7	nsv540147	chr9:71399922-71800338	Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
8	nsv1047540	chr9:71401918-71803639	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
9	nsv931684	chr9:71417110-71957723	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
10	nsv1049175	chr9:71418242-71986910	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
11	nsv466393	chr9:71453443-71704827	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS 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	10 gene(s)	inside rSNPs	diseases
12	nsv614547	chr9:71453443-71704827	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
13	nsv1035823	chr9:71465139-71901672	Genic enhancers Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
14	nsv466396	chr9:71471912-71935577	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
15	nsv614548	chr9:71471912-71935577	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
16	nsv614549	chr9:71506459-71659280	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
17	nsv1051798	chr9:71511805-71792032	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
18	nsv1035477	chr9:71511927-71959487	Enhancers Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:71510400-71576200	Weak transcription	Stomach Mucosa	stomach
2	chr9:71510600-71532400	Weak transcription	Small Intestine	intestine
3	chr9:71512200-71548800	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr9:71514000-71532000	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr9:71514200-71553600	Weak transcription	Aorta	Aorta
6	chr9:71514200-71557800	Weak transcription	Lung	lung
7	chr9:71514400-71532000	Weak transcription	Primary B cells from peripheral blood	blood
8	chr9:71517400-71532400	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr9:71519400-71573000	Weak transcription	Gastric	stomach
10	chr9:71520400-71535400	Weak transcription	Fetal Intestine Small	intestine
11	chr9:71520600-71534000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr9:71521000-71534600	Weak transcription	Primary hematopoietic stem cells	blood
13	chr9:71521200-71533800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr9:71527200-71530400	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr9:71528000-71532400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr9:71528000-71542200	Weak transcription	Brain Angular Gyrus	brain
17	chr9:71528200-71537600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr9:71528400-71531000	Strong transcription	Fetal Intestine Large	intestine
19	chr9:71528400-71531800	Weak transcription	GM12878-XiMat	blood
20	chr9:71528400-71532400	Weak transcription	Duodenum Mucosa	Duodenum
21	chr9:71528400-71532600	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr9:71528400-71534400	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr9:71528400-71535000	Weak transcription	Fetal Kidney	kidney
24	chr9:71529400-71532400	Weak transcription	Left Ventricle	heart
25	chr9:71529600-71533000	Weak transcription	HepG2	liver
26	chr9:71529800-71530600	Strong transcription	Primary B cells from cord blood	blood
27	chr9:71529800-71531000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
28	chr9:71529800-71532800	Enhancers	Fetal Heart	heart
29	chr9:71530000-71530400	Enhancers	HSMMtube	muscle
30	chr9:71530000-71530600	Enhancers	Right Atrium	heart
31	chr9:71530000-71531400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr9:71530000-71534200	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr9:71530000-71538400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr9:71530200-71530400	Enhancers	K562	blood
35	chr9:71530200-71532600	Weak transcription	Right Ventricle	heart

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