Variant report

Variant	rs73389013
Chromosome Location	chr6:27679125-27679126
allele	C/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	chr6:27676729..27679149-chr6:27683111..27685492,2	K562	blood:
4	chr6:27676712..27678626-chr6:27679096..27681049,2	K562	blood:
5	chr6:27641336..27643543-chr6:27677360..27680125,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs6922926	1.00[AFR][1000 genomes]
rs73384335	1.00[AFR][1000 genomes]
rs73385127	0.89[AFR][1000 genomes]
rs73385132	0.89[AFR][1000 genomes]
rs73385144	0.89[AFR][1000 genomes]
rs73387079	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73387082	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73389015	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73389035	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7751576	1.00[AFR][1000 genomes]
rs7769956	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 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
10	esv20151	chr6:27675064-27679423	Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv601206	chr6:27676794-27679347	Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	nsv601207	chr6:27678451-27679347	Weak transcription Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:27662400-27680000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr6:27662400-27680400	Weak transcription	Spleen	Spleen
3	chr6:27662400-27680600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr6:27662400-27684600	Weak transcription	Lung	lung
5	chr6:27662400-27685600	Weak transcription	Esophagus	oesophagus
6	chr6:27662600-27680600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr6:27662600-27680800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr6:27662600-27684000	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr6:27662800-27684000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr6:27662800-27684800	Weak transcription	Fetal Kidney	kidney
11	chr6:27662800-27688400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr6:27662800-27688600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr6:27662800-27689000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr6:27663000-27688600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr6:27663200-27680800	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr6:27663200-27682400	Weak transcription	Pancreas	Pancrea
17	chr6:27663200-27683800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr6:27663200-27688400	Weak transcription	HMEC	breast
19	chr6:27663400-27687800	Weak transcription	NHEK	skin
20	chr6:27664600-27684600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr6:27668200-27684400	Weak transcription	Fetal Muscle Trunk	muscle
22	chr6:27668800-27680400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr6:27669800-27684400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr6:27671400-27687200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr6:27671600-27688600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr6:27671800-27680400	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr6:27671800-27680400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr6:27671800-27681400	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr6:27672000-27680000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr6:27672000-27680600	Weak transcription	Duodenum Mucosa	Duodenum
31	chr6:27672200-27680800	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr6:27672200-27683000	Weak transcription	Hela-S3	cervix
33	chr6:27672800-27680400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr6:27673000-27684800	Weak transcription	Primary hematopoietic stem cells	blood
35	chr6:27673200-27684800	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr6:27673600-27687600	Weak transcription	Fetal Intestine Small	intestine
37	chr6:27674600-27687000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr6:27675000-27681000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr6:27675200-27680600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr6:27675200-27685000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr6:27677000-27680200	Weak transcription	A549	lung
42	chr6:27677400-27681800	Strong transcription	Fetal Stomach	stomach
43	chr6:27677800-27682200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr6:27677800-27682800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr6:27677800-27683600	Weak transcription	Small Intestine	intestine
46	chr6:27678000-27679200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr6:27678000-27681200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr6:27678000-27681200	Strong transcription	Primary T cells from cord blood	blood
49	chr6:27678000-27681800	Strong transcription	Primary B cells from peripheral blood	blood
50	chr6:27678000-27682200	Strong transcription	Fetal Intestine Large	intestine

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