Variant report

Variant	rs17055441
Chromosome Location	chr6:128531651-128531652
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	chr6:128531202..128533436-chr6:128533641..128536228,2	MCF-7	breast:
2	chr6:128529927..128532522-chr6:128841893..128843396,2	MCF-7	breast:

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs1012049	0.94[CHB][hapmap];0.83[CHD][hapmap];0.89[JPT][hapmap];0.85[ASN][1000 genomes]
rs10485160	0.83[JPT][hapmap];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11961542	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11962214	0.90[YRI][hapmap]
rs11962916	0.89[MKK][hapmap];0.81[YRI][hapmap]
rs12055654	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1543376	0.83[JPT][hapmap];0.86[ASN][1000 genomes]
rs17055472	0.83[CHD][hapmap];0.83[JPT][hapmap];1.00[TSI][hapmap];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17055477	0.83[JPT][hapmap];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2076572	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3813371	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.94[ASN][1000 genomes]
rs3813372	1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3813373	0.94[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.94[ASN][1000 genomes]
rs4140541	0.83[JPT][hapmap];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4243494	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4421217	0.96[ASN][1000 genomes]
rs4483000	1.00[TSI][hapmap]
rs4557544	1.00[CEU][hapmap]
rs4628122	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs4897252	0.94[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs61583694	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6913738	0.86[MKK][hapmap];0.81[YRI][hapmap]
rs6928143	0.83[JPT][hapmap];0.83[ASN][1000 genomes]
rs6930547	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6933029	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6938118	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.96[ASN][1000 genomes]
rs730202	0.83[CHB][hapmap];0.82[CHD][hapmap];0.83[JPT][hapmap];1.00[TSI][hapmap];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73590673	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs742736	0.82[CHD][hapmap];0.83[JPT][hapmap];1.00[TSI][hapmap];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7753945	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.96[ASN][1000 genomes]
rs7755836	0.83[JPT][hapmap];0.87[ASN][1000 genomes]
rs7773849	0.83[JPT][hapmap];0.87[ASN][1000 genomes]
rs9321111	1.00[CEU][hapmap]
rs9321113	0.83[JPT][hapmap];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9372885	0.81[EUR][1000 genomes]
rs9372886	0.83[JPT][hapmap];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9372887	1.00[MEX][hapmap];1.00[TSI][hapmap]
rs9375550	0.87[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.90[ASN][1000 genomes]
rs9375551	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9375552	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9375553	1.00[CEU][hapmap];0.87[CHB][hapmap];0.89[JPT][hapmap];0.84[ASN][1000 genomes]
rs9375554	1.00[MEX][hapmap];1.00[TSI][hapmap]
rs9375555	0.85[CHD][hapmap];0.83[JPT][hapmap];1.00[TSI][hapmap];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9375556	0.83[JPT][hapmap];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9375557	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9375558	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9385452	1.00[MEX][hapmap];1.00[TSI][hapmap]
rs9385455	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9388618	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9388619	0.96[ASN][1000 genomes]
rs9388621	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9388622	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9388623	1.00[CEU][hapmap];0.88[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.81[ASN][1000 genomes]
rs9388625	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9388626	0.83[JPT][hapmap];0.87[ASN][1000 genomes]
rs9388627	0.83[JPT][hapmap];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9388629	1.00[MEX][hapmap]
rs9398864	0.84[ASN][1000 genomes]
rs9398865	1.00[CEU][hapmap];0.87[CHB][hapmap];0.82[CHD][hapmap];0.89[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs9398866	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9398867	1.00[MEX][hapmap];1.00[TSI][hapmap]
rs9398868	0.82[CHD][hapmap];0.83[JPT][hapmap];1.00[TSI][hapmap];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9402023	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9402024	0.83[JPT][hapmap];0.87[ASN][1000 genomes]
rs9402025	1.00[MEX][hapmap]
rs9402029	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9402030	0.85[CHD][hapmap];0.83[JPT][hapmap];1.00[TSI][hapmap];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9402032	0.85[ASN][1000 genomes]
rs9784773	0.83[JPT][hapmap];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9784880	0.82[CHB][hapmap];0.82[JPT][hapmap];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033443	chr6:128306654-128899203	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv538440	chr6:128306654-128899203	Weak transcription Enhancers Strong transcription Flanking Active TSS 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	8 gene(s)	inside rSNPs	diseases
3	nsv886649	chr6:128399657-128808054	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv604646	chr6:128421762-128531651	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv604647	chr6:128421762-128547177	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv886651	chr6:128450019-128565778	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv886653	chr6:128455539-128555805	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv886654	chr6:128471938-128555805	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:128488200-128565200	Weak transcription	Fetal Stomach	stomach
2	chr6:128492600-128567800	Weak transcription	Ovary	ovary
3	chr6:128503200-128541800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr6:128505800-128538800	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr6:128505800-128552200	Weak transcription	Duodenum Mucosa	Duodenum
6	chr6:128506000-128561000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr6:128520400-128536800	Weak transcription	Fetal Intestine Large	intestine
8	chr6:128520400-128573800	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr6:128522000-128560800	Weak transcription	Primary T cells from cord blood	blood
10	chr6:128523800-128538200	Weak transcription	Fetal Thymus	thymus
11	chr6:128523800-128540600	Weak transcription	Lung	lung
12	chr6:128523800-128543600	Weak transcription	Left Ventricle	heart
13	chr6:128525000-128535000	Weak transcription	Primary B cells from peripheral blood	blood
14	chr6:128525200-128539000	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr6:128526800-128541200	Weak transcription	Adipose Nuclei	Adipose
16	chr6:128527000-128543600	Weak transcription	Fetal Intestine Small	intestine
17	chr6:128527600-128561000	Weak transcription	Esophagus	oesophagus
18	chr6:128528200-128532000	Enhancers	NHEK	skin
19	chr6:128528200-128532400	Enhancers	HUVEC	blood vessel
20	chr6:128528200-128532600	Weak transcription	Fetal Brain Female	brain
21	chr6:128528200-128558400	Weak transcription	Brain Cingulate Gyrus	brain
22	chr6:128528400-128561000	Weak transcription	Fetal Brain Male	brain
23	chr6:128529000-128532000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr6:128529000-128538000	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr6:128529200-128532000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr6:128529400-128538200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr6:128529400-128552600	Weak transcription	Small Intestine	intestine
28	chr6:128529600-128538200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr6:128529800-128561000	Weak transcription	Stomach Smooth Muscle	stomach
30	chr6:128530000-128531800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr6:128530000-128532000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr6:128530000-128532000	Enhancers	Osteobl	bone
33	chr6:128530000-128539200	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr6:128530000-128542000	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr6:128530400-128531800	Strong transcription	Primary B cells from cord blood	blood
36	chr6:128530400-128532000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr6:128531000-128531800	Enhancers	NH-A	brain
38	chr6:128531000-128539200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr6:128531000-128539800	Weak transcription	NHDF-Ad	bronchial
40	chr6:128531000-128550600	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr6:128531000-128562400	Weak transcription	Aorta	Aorta
42	chr6:128531200-128535800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr6:128531200-128538200	Weak transcription	HSMM	muscle
44	chr6:128531200-128540400	Weak transcription	Pancreas	Pancrea
45	chr6:128531200-128554600	Weak transcription	Right Ventricle	heart
46	chr6:128531200-128562400	Weak transcription	HSMMtube	muscle
47	chr6:128531200-128567800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr6:128531200-128573800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr6:128531400-128531800	Weak transcription	Liver	Liver
50	chr6:128531400-128532200	Active TSS	Pancreatic Islets	Pancreatic Islet

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