Variant report

Variant	rs6920044
Chromosome Location	chr6:27657647-27657648
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:27655370..27657742-chr6:27715050..27717959,2	K562	blood:
2	chr6:27202749..27204748-chr6:27656090..27658081,2	K562	blood:
3	chr6:27656133..27659088-chr6:27710854..27712483,2	K562	blood:
4	chr6:27653789..27659338-chr6:27659392..27663401,13	K562	blood:
5	chr6:27655786..27657671-chr6:27777694..27780064,2	K562	blood:
6	chr6:27518096..27521091-chr6:27655240..27657826,2	K562	blood:
7	chr6:27655564..27658376-chr6:27856463..27858379,2	K562	blood:
8	chr6:27652252..27653760-chr6:27657291..27659495,2	MCF-7	breast:
9	chr6:27656124..27658141-chr6:27861315..27864462,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000203813	Chromatin interaction

Extended variants
information (count: 76 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs1028311	0.89[CEU][hapmap];0.87[CHB][hapmap];0.88[GIH][hapmap];0.88[JPT][hapmap]
rs10484400	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10946943	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1157432	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes]
rs12055685	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12173985	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12174087	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12663707	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12664599	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1555021	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16867886	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16867916	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16867921	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16867976	1.00[CHB][hapmap];0.88[JPT][hapmap];0.91[EUR][1000 genomes]
rs16867983	0.88[CEU][hapmap];1.00[CHB][hapmap];0.80[GIH][hapmap];0.88[JPT][hapmap];0.83[TSI][hapmap];0.91[EUR][1000 genomes]
rs1973889	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2142704	0.89[CEU][hapmap];0.87[CHB][hapmap];0.85[CHD][hapmap];0.94[JPT][hapmap]
rs3175123	0.93[CHB][hapmap];0.88[JPT][hapmap]
rs3800321	0.86[CHB][hapmap]
rs4711157	0.89[CEU][hapmap];0.86[CHB][hapmap];0.94[JPT][hapmap]
rs56408767	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59893892	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60096640	0.89[EUR][1000 genomes]
rs6906653	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6934295	0.89[CEU][hapmap];0.87[CHB][hapmap];0.94[JPT][hapmap]
rs73385147	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73385152	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73385154	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73739763	0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7753236	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7763685	0.89[CEU][hapmap];0.86[CHB][hapmap];0.94[JPT][hapmap]
rs878241	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9295751	0.93[CHB][hapmap]
rs9348771	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9348777	0.87[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.91[EUR][1000 genomes]
rs9348778	0.83[EUR][1000 genomes]
rs9357043	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9357044	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9357048	0.88[CEU][hapmap];1.00[CHB][hapmap];0.84[GIH][hapmap];0.88[JPT][hapmap];0.83[TSI][hapmap];0.91[EUR][1000 genomes]
rs9368517	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9368521	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9368524	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9368525	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9368526	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9379995	0.84[ASN][1000 genomes]
rs9380000	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9380001	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9380005	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9380022	0.93[CHB][hapmap]
rs9380024	0.92[CHB][hapmap];0.85[JPT][hapmap]
rs9393826	0.89[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap]
rs9393832	0.89[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs9393835	0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9393836	0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9393838	0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9393839	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9393842	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9393843	0.92[ASN][1000 genomes]
rs9393849	0.91[EUR][1000 genomes]
rs9393852	0.95[EUR][1000 genomes]
rs9393856	0.83[EUR][1000 genomes]
rs9468157	0.89[CEU][hapmap];0.87[CHB][hapmap];0.85[CHD][hapmap];0.94[JPT][hapmap]
rs970668	0.89[CEU][hapmap];0.82[CHD][hapmap];0.82[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022797	chr6:27396961-27864277	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	390 gene(s)	inside rSNPs	diseases
2	nsv883510	chr6:27550712-27730064	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
3	nsv1023673	chr6:27570731-27688782	Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
4	nsv830618	chr6:27593274-27789605	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	143 gene(s)	inside rSNPs	diseases
5	nsv1031337	chr6:27596676-27734884	Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
6	nsv525669	chr6:27623511-27657647	Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
7	nsv883511	chr6:27623511-27660508	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
8	esv2830157	chr6:27634640-27657647	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
9	nsv518945	chr6:27634640-27668013	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
10	nsv437481	chr6:27655096-27683572	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
11	nsv601204	chr6:27655564-27689502	Strong transcription Active TSS Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
12	nsv1023808	chr6:27656049-27674354	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
13	nsv601205	chr6:27656255-27730064	Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:27655800-27661400	Weak transcription	Lung	lung
2	chr6:27656000-27658200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr6:27656000-27658400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr6:27656200-27658000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr6:27656200-27661000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr6:27656200-27661600	Weak transcription	Adipose Nuclei	Adipose
7	chr6:27656200-27661600	Weak transcription	Right Atrium	heart
8	chr6:27656400-27658200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr6:27656400-27658200	Weak transcription	HepG2	liver
10	chr6:27656400-27658400	Weak transcription	NHEK	skin
11	chr6:27656400-27660200	Weak transcription	GM12878-XiMat	blood
12	chr6:27656400-27660800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr6:27656400-27661000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr6:27656400-27661200	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr6:27656400-27661200	Weak transcription	HMEC	breast
16	chr6:27656400-27661400	Weak transcription	Pancreas	Pancrea
17	chr6:27656600-27661400	Weak transcription	Dnd41	blood
18	chr6:27657000-27661000	Weak transcription	Primary B cells from peripheral blood	blood
19	chr6:27657200-27661000	Weak transcription	K562	blood
20	chr6:27657200-27661200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr6:27657400-27661000	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr6:27657600-27661000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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