Variant report

Variant	rs60242525
Chromosome Location	chr6:27680556-27680557
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:27677806..27681371-chr6:27682071..27685052,3	K562	blood:
2	chr6:27661232..27663489-chr6:27678201..27680638,2	K562	blood:
3	chr6:27676712..27678626-chr6:27679096..27681049,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HIST1H2BL-2	chr6:27680492-27681059	NONHSAT108399

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs55810724	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56096322	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56358872	1.00[AMR][1000 genomes]
rs56393640	1.00[AMR][1000 genomes]
rs56758520	0.86[AFR][1000 genomes]
rs57044733	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57270702	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57606279	1.00[AMR][1000 genomes]
rs58040059	1.00[AMR][1000 genomes]
rs58677321	1.00[AMR][1000 genomes]
rs60512267	1.00[AMR][1000 genomes]
rs60542036	1.00[AMR][1000 genomes]
rs60566574	1.00[AMR][1000 genomes]
rs61415880	0.86[AFR][1000 genomes]
rs61499563	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73739185	0.86[AFR][1000 genomes]
rs73739187	0.86[AFR][1000 genomes]
rs73739190	0.86[AFR][1000 genomes]
rs73739605	1.00[AMR][1000 genomes]
rs73739607	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73739608	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73739609	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73739686	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73739687	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73739689	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73739691	1.00[AMR][1000 genomes]
rs73739696	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73739769	0.86[AFR][1000 genomes]
rs73740807	1.00[AMR][1000 genomes]
rs73740808	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73740809	1.00[AMR][1000 genomes]
rs73740816	1.00[AMR][1000 genomes]
rs73740819	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73740835	1.00[AMR][1000 genomes]
rs73740839	1.00[AMR][1000 genomes]
rs73740871	1.00[AMR][1000 genomes]
rs73740872	1.00[AMR][1000 genomes]
rs73741616	1.00[AMR][1000 genomes]
rs73741620	1.00[AMR][1000 genomes]
rs73741622	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73741623	1.00[AMR][1000 genomes]
rs9767465	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	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
7	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
8	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
9	nsv437482	chr6:27670917-27683572	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:27662400-27680600	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr6:27662400-27684600	Weak transcription	Lung	lung
3	chr6:27662400-27685600	Weak transcription	Esophagus	oesophagus
4	chr6:27662600-27680600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr6:27662600-27680800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr6:27662600-27684000	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr6:27662800-27684000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr6:27662800-27684800	Weak transcription	Fetal Kidney	kidney
9	chr6:27662800-27688400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr6:27662800-27688600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr6:27662800-27689000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr6:27663000-27688600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr6:27663200-27680800	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr6:27663200-27682400	Weak transcription	Pancreas	Pancrea
15	chr6:27663200-27683800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr6:27663200-27688400	Weak transcription	HMEC	breast
17	chr6:27663400-27687800	Weak transcription	NHEK	skin
18	chr6:27664600-27684600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr6:27668200-27684400	Weak transcription	Fetal Muscle Trunk	muscle
20	chr6:27669800-27684400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr6:27671400-27687200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr6:27671600-27688600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr6:27671800-27681400	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr6:27672000-27680600	Weak transcription	Duodenum Mucosa	Duodenum
25	chr6:27672200-27680800	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr6:27672200-27683000	Weak transcription	Hela-S3	cervix
27	chr6:27673000-27684800	Weak transcription	Primary hematopoietic stem cells	blood
28	chr6:27673200-27684800	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr6:27673600-27687600	Weak transcription	Fetal Intestine Small	intestine
30	chr6:27674600-27687000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr6:27675000-27681000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr6:27675200-27680600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr6:27675200-27685000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr6:27677400-27681800	Strong transcription	Fetal Stomach	stomach
35	chr6:27677800-27682200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr6:27677800-27682800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr6:27677800-27683600	Weak transcription	Small Intestine	intestine
38	chr6:27678000-27681200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr6:27678000-27681200	Strong transcription	Primary T cells from cord blood	blood
40	chr6:27678000-27681800	Strong transcription	Primary B cells from peripheral blood	blood
41	chr6:27678000-27682200	Strong transcription	Fetal Intestine Large	intestine
42	chr6:27678000-27682400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr6:27678000-27682400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
44	chr6:27678200-27681200	Strong transcription	Primary T cells fromperipheralblood	blood
45	chr6:27678200-27681200	Strong transcription	HepG2	liver
46	chr6:27678200-27681800	Strong transcription	Fetal Brain Female	brain
47	chr6:27678200-27682000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
48	chr6:27678200-27682400	Strong transcription	HUES6 Cell Line	embryonic stem cell
49	chr6:27678400-27681400	Strong transcription	Thymus	Thymus
50	chr6:27678400-27681800	Strong transcription	Primary T helper cells fromperipheralblood	blood

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