Variant report

Variant	rs17190589
Chromosome Location	chr6:31094261-31094262
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:31081982..31084650-chr6:31092935..31096389,3	MCF-7	breast:
2	chr6:31090881..31093261-chr6:31094192..31096306,2	K562	blood:
3	chr6:31091407..31094366-chr6:31165370..31167054,2	MCF-7	breast:
4	chr6:31088197..31091806-chr6:31092941..31094886,3	K562	blood:
5	chr6:31093740..31096659-chr6:31097265..31098967,2	K562	blood:
6	chr6:31092622..31094378-chr6:31124404..31127254,2	MCF-7	breast:
7	chr6:31093836..31097468-chr6:31099358..31102420,4	K562	blood:

Variant related genes	Relation type
ENSG00000137310	Chromatin interaction
ENSG00000272501	Chromatin interaction
ENSG00000204539	Chromatin interaction
ENSG00000204540	Chromatin interaction
ENSG00000204536	Chromatin interaction
ENSG00000206344	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs1044870	0.83[ASN][1000 genomes]
rs11754821	0.93[EUR][1000 genomes]
rs11756797	0.96[ASN][1000 genomes]
rs130077	0.83[ASN][1000 genomes]
rs17190526	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2233945	0.83[ASN][1000 genomes]
rs2233946	0.83[ASN][1000 genomes]
rs2233947	0.82[ASN][1000 genomes]
rs2270190	0.83[EUR][1000 genomes]
rs3095300	0.93[ASN][1000 genomes]
rs41315387	0.87[EUR][1000 genomes]
rs62399065	0.82[ASN][1000 genomes]
rs62399066	0.82[ASN][1000 genomes]
rs9263580	0.88[EUR][1000 genomes]
rs9263600	0.93[EUR][1000 genomes]
rs9263607	0.88[EUR][1000 genomes]
rs9263623	0.85[EUR][1000 genomes]
rs9263708	1.00[ASN][1000 genomes]
rs9263733	0.82[ASN][1000 genomes]
rs9263745	0.83[ASN][1000 genomes]
rs9263766	0.83[ASN][1000 genomes]
rs9263768	0.83[ASN][1000 genomes]
rs9263769	0.80[ASN][1000 genomes]
rs9263774	0.83[ASN][1000 genomes]
rs9263775	0.83[ASN][1000 genomes]
rs9263776	0.83[ASN][1000 genomes]
rs9263777	0.83[ASN][1000 genomes]
rs9263778	0.83[ASN][1000 genomes]
rs9263781	0.83[ASN][1000 genomes]
rs9263782	0.83[ASN][1000 genomes]
rs9263783	0.83[ASN][1000 genomes]
rs9263785	0.83[ASN][1000 genomes]
rs9263786	0.83[ASN][1000 genomes]
rs9263790	0.83[ASN][1000 genomes]
rs9263792	0.83[ASN][1000 genomes]
rs9263794	0.80[ASN][1000 genomes]
rs9263796	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3519970	chr6:30382942-31378788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
2	esv3519971	chr6:30382942-31378788	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
3	nsv601481	chr6:30422632-31284253	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1012 gene(s)	inside rSNPs	diseases
4	nsv1015372	chr6:30704734-31582152	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	334 gene(s)	inside rSNPs	diseases
5	nsv538173	chr6:30704734-31582152	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	334 gene(s)	inside rSNPs	diseases
6	nsv1029442	chr6:31006647-31449207	Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	82 gene(s)	inside rSNPs	diseases
7	nsv427750	chr6:31028290-31234581	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
8	nsv428140	chr6:31028290-31462106	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	89 gene(s)	inside rSNPs	diseases
9	esv2758042	chr6:31028290-31497106	Weak transcription Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	101 gene(s)	inside rSNPs	diseases
10	esv2759414	chr6:31028290-31542308	Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	151 gene(s)	inside rSNPs	diseases
11	nsv1033227	chr6:31071547-31101674	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
12	nsv525933	chr6:31081205-31142245	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
13	nsv884137	chr6:31082361-31129310	Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
14	esv1797052	chr6:31083813-31095816	Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
15	esv1820685	chr6:31083813-31097453	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
16	esv1799829	chr6:31087133-31097183	Enhancers Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:31083200-31105400	Weak transcription	Spleen	Spleen
2	chr6:31088000-31094800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr6:31088000-31095000	Enhancers	HMEC	breast
4	chr6:31088200-31095000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr6:31089000-31096200	Enhancers	Lung	lung
6	chr6:31089600-31094800	Enhancers	NHEK	skin
7	chr6:31090000-31095800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr6:31090600-31094400	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr6:31091200-31094400	Weak transcription	Colonic Mucosa	Colon
10	chr6:31091200-31094400	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr6:31091200-31096000	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr6:31091600-31094400	Enhancers	Fetal Muscle Trunk	muscle
13	chr6:31092200-31095200	Enhancers	Fetal Muscle Leg	muscle
14	chr6:31092400-31094800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr6:31092600-31096000	Enhancers	Stomach Mucosa	stomach
16	chr6:31092800-31094400	Enhancers	Muscle Satellite Cultured Cells	--
17	chr6:31092800-31094600	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr6:31092800-31094600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr6:31092800-31094600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr6:31092800-31094600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr6:31092800-31095000	Enhancers	Left Ventricle	heart
22	chr6:31092800-31095200	Enhancers	Adipose Nuclei	Adipose
23	chr6:31092800-31095200	Enhancers	HSMM	muscle
24	chr6:31093000-31094400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr6:31093000-31095000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr6:31093000-31096000	Enhancers	Gastric	stomach
27	chr6:31093000-31096000	Enhancers	Right Atrium	heart
28	chr6:31093000-31096000	Enhancers	Right Ventricle	heart
29	chr6:31093200-31094600	Bivalent Enhancer	NHLF	lung
30	chr6:31093200-31094800	Enhancers	Esophagus	oesophagus
31	chr6:31093200-31094800	Enhancers	NHDF-Ad	bronchial
32	chr6:31093200-31096600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr6:31093400-31094400	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr6:31093400-31094800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr6:31093400-31095200	Enhancers	HSMMtube	muscle
36	chr6:31093400-31095800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr6:31093400-31105400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr6:31093400-31107000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr6:31093600-31094600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr6:31093600-31094800	Weak transcription	Primary hematopoietic stem cells	blood
41	chr6:31093600-31094800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr6:31093600-31095000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr6:31093800-31094600	Enhancers	Osteobl	bone
44	chr6:31093800-31095600	Weak transcription	Colon Smooth Muscle	Colon
45	chr6:31093800-31097800	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr6:31094000-31094400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr6:31094000-31095400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr6:31094000-31095800	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr6:31094000-31097000	Weak transcription	Pancreas	Pancrea
50	chr6:31094200-31094800	Enhancers	H1 Cell Line	embryonic stem cell

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