Variant report

Variant	rs28894083
Chromosome Location	chr6:30751136-30751137
allele	C/T
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:30748758..30751430-chr6:30850690..30852588,5	MCF-7	breast:
2	chr6:30613838..30616795-chr6:30748344..30751338,2	K562	blood:
3	chr6:30750359..30753448-chr6:30757734..30761171,4	MCF-7	breast:
4	chr6:30750458..30752219-chr6:30756523..30759247,2	MCF-7	breast:
5	chr6:30685130..30687169-chr6:30748703..30751412,3	K562	blood:
6	chr6:30749778..30751326-chr6:30778307..30780023,3	MCF-7	breast:
7	chr6:27100755..27102737-chr6:30749085..30751315,2	K562	blood:
8	chr6:30710424..30713995-chr6:30746295..30752430,9	K562	blood:

No data

Variant related genes	Relation type
ENSG00000266183	Chromatin interaction
ENSG00000137312	Chromatin interaction
ENSG00000204564	Chromatin interaction
ENSG00000272273	Chromatin interaction
ENSG00000137337	Chromatin interaction
ENSG00000196787	Chromatin interaction
ENSG00000204580	Chromatin interaction
ENSG00000137331	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10947091	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10947095	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11758688	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12526481	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12527415	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12527745	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13196596	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13197105	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13197117	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13197227	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13201769	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13201901	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13206009	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13207758	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13210146	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13211218	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13213720	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16897899	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16897900	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28780116	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28780119	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28894084	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28894085	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28894089	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3131042	0.84[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs3131043	0.84[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs3131046	0.84[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs3131051	0.93[ASN][1000 genomes]
rs4711228	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4711229	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4713360	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4713362	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4713365	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4713366	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4713367	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4713368	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6900029	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6920124	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7740474	0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7740525	0.95[ASN][1000 genomes]
rs9295912	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9295914	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9461630	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9461631	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9468830	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9468832	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9468833	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]

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	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	esv3430377	chr6:30443802-30814426	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	967 gene(s)	inside rSNPs	diseases
5	esv2758041	chr6:30644693-30816319	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	223 gene(s)	inside rSNPs	diseases
6	esv2759413	chr6:30644693-30816319	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	223 gene(s)	inside rSNPs	diseases
7	nsv884100	chr6:30693816-30751326	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	179 gene(s)	inside rSNPs	diseases
8	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
9	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
10	nsv870418	chr6:30713196-30755668	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
11	nsv527226	chr6:30716719-30772378	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
12	nsv884103	chr6:30729487-30755668	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
13	nsv884104	chr6:30740680-30753146	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30744000-30758000	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr6:30746000-30752400	Enhancers	Placenta	Placenta
3	chr6:30746200-30751400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr6:30746800-30751200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr6:30747000-30751400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr6:30748200-30751400	Enhancers	Liver	Liver
7	chr6:30748200-30753800	Weak transcription	Primary T cells from cord blood	blood
8	chr6:30748800-30751400	Enhancers	Fetal Intestine Small	intestine
9	chr6:30748800-30751400	Flanking Active TSS	Hela-S3	cervix
10	chr6:30749000-30751200	Flanking Active TSS	HepG2	liver
11	chr6:30749400-30761200	Weak transcription	Lung	lung
12	chr6:30749800-30755800	Weak transcription	Right Atrium	heart
13	chr6:30749800-30757000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr6:30750000-30751400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr6:30750000-30753000	Weak transcription	Dnd41	blood
16	chr6:30750000-30753400	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr6:30750000-30753800	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr6:30750000-30754200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr6:30750000-30756000	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr6:30750200-30751200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr6:30750200-30751200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr6:30750200-30751200	Enhancers	Colonic Mucosa	Colon
23	chr6:30750200-30753000	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr6:30750200-30754000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr6:30750400-30751200	Enhancers	Muscle Satellite Cultured Cells	--
26	chr6:30750400-30751200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr6:30750400-30751200	Enhancers	Osteobl	bone
28	chr6:30750400-30751600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr6:30750400-30753800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr6:30750400-30754200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr6:30750400-30761200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr6:30750600-30751200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr6:30750600-30751200	Enhancers	Fetal Muscle Trunk	muscle
34	chr6:30750600-30751200	Active TSS	A549	lung
35	chr6:30750600-30754000	Enhancers	K562	blood
36	chr6:30750600-30755800	Weak transcription	Primary hematopoietic stem cells	blood
37	chr6:30750600-30755800	Weak transcription	Colon Smooth Muscle	Colon
38	chr6:30750600-30755800	Weak transcription	Fetal Thymus	thymus
39	chr6:30750600-30756000	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr6:30750600-30756000	Weak transcription	Stomach Mucosa	stomach
41	chr6:30750600-30758000	Weak transcription	Fetal Heart	heart
42	chr6:30750800-30751400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr6:30750800-30751800	Weak transcription	Duodenum Mucosa	Duodenum
44	chr6:30750800-30753000	Weak transcription	GM12878-XiMat	blood
45	chr6:30750800-30753000	Enhancers	Monocytes-CD14+_RO01746	blood
46	chr6:30750800-30753800	Weak transcription	NH-A	brain
47	chr6:30750800-30754200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr6:30750800-30755800	Weak transcription	Adipose Nuclei	Adipose
49	chr6:30750800-30761200	Weak transcription	Small Intestine	intestine
50	chr6:30750800-30761600	Weak transcription	NHDF-Ad	bronchial

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