Variant report

Variant	rs6050471
Chromosome Location	chr20:25218814-25218815
allele	C/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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:25217672..25220139-chr20:25231086..25234075,2	K562	blood:
2	chr20:24972383..24974540-chr20:25217618..25219983,2	MCF-7	breast:
3	chr20:25183250..25185573-chr20:25216058..25218999,2	K562	blood:
4	chr20:25202630..25205811-chr20:25216329..25219986,4	MCF-7	breast:
5	chr20:25218111..25220827-chr20:25369556..25371592,2	MCF-7	breast:
6	chr20:25206419..25208842-chr20:25217739..25219555,2	MCF-7	breast:
7	chr20:25200803..25202530-chr20:25217099..25219060,2	MCF-7	breast:
8	chr20:25182714..25185445-chr20:25216908..25218844,2	MCF-7	breast:
9	chr20:25212487..25223003-chr20:25225155..25231821,24	MCF-7	breast:
10	chr20:25210927..25216331-chr20:25216727..25222043,13	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000268302	Chromatin interaction
ENSG00000100994	Chromatin interaction
ENSG00000100997	Chromatin interaction
ENSG00000197586	Chromatin interaction
ENSG00000101474	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs2067793	0.87[YRI][hapmap]
rs6037061	1.00[CEU][hapmap]
rs6037064	1.00[CEU][hapmap];0.87[YRI][hapmap];0.82[AFR][1000 genomes]
rs6050458	1.00[CEU][hapmap]
rs6050461	0.82[AFR][1000 genomes]
rs6050462	1.00[CEU][hapmap];0.88[YRI][hapmap];0.82[AFR][1000 genomes]
rs6050470	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6050473	1.00[CEU][hapmap]
rs6050476	1.00[CEU][hapmap]
rs6050486	1.00[CEU][hapmap]
rs6050510	1.00[CEU][hapmap]
rs6050511	1.00[CEU][hapmap]
rs6050512	1.00[CEU][hapmap]
rs7266033	1.00[CEU][hapmap]
rs7274919	1.00[CEU][hapmap]
rs7344105	1.00[CEU][hapmap]
rs8123947	1.00[CEU][hapmap]
rs8126469	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062140	chr20:24807962-25304054	Strong transcription Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv544219	chr20:24807962-25304054	Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv1055341	chr20:24848416-25302271	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv1063494	chr20:25067286-25468557	Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
5	nsv1063016	chr20:25067286-25475629	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
6	nsv1065101	chr20:25068046-25466542	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS 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 miRNA target site	53 gene(s)	inside rSNPs	diseases
7	nsv544220	chr20:25068046-25466542	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
8	nsv531480	chr20:25070067-25472684	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
9	nsv585746	chr20:25071454-25470056	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
10	nsv1062742	chr20:25071454-25475629	Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
11	nsv949389	chr20:25071454-25506582	Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
12	nsv531481	chr20:25080583-25448944	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
13	nsv949479	chr20:25096494-25467359	Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
14	nsv1061109	chr20:25101715-25472685	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
15	nsv544221	chr20:25101715-25472685	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
16	nsv1066667	chr20:25133066-25238976	Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
17	nsv544222	chr20:25133066-25238976	Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:25204200-25222800	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr20:25213200-25221800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr20:25213400-25222200	Enhancers	HMEC	breast
4	chr20:25213600-25222200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr20:25213800-25220200	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr20:25214200-25220800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr20:25214400-25219400	Enhancers	Stomach Mucosa	stomach
8	chr20:25214400-25223000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr20:25215200-25221800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr20:25215400-25219600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr20:25215400-25223200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr20:25215600-25221600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr20:25215800-25219600	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr20:25215800-25221600	Weak transcription	Fetal Kidney	kidney
15	chr20:25215800-25222800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr20:25216000-25220200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr20:25216000-25222800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr20:25216600-25219400	Enhancers	Gastric	stomach
19	chr20:25216600-25219800	Enhancers	NHLF	lung
20	chr20:25216600-25220400	Enhancers	Esophagus	oesophagus
21	chr20:25217000-25219800	Enhancers	HSMMtube	muscle
22	chr20:25217000-25220400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr20:25217000-25220600	Enhancers	Placenta Amnion	Placenta Amnion
24	chr20:25217200-25219600	Enhancers	NHDF-Ad	bronchial
25	chr20:25217200-25220800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr20:25217200-25220800	Enhancers	NH-A	brain
27	chr20:25217200-25221000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr20:25217400-25220800	Enhancers	K562	blood
29	chr20:25217600-25219400	Enhancers	Right Atrium	heart
30	chr20:25217600-25219600	Enhancers	Aorta	Aorta
31	chr20:25217600-25227600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr20:25217800-25219200	Enhancers	Placenta	Placenta
33	chr20:25218000-25219000	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr20:25218000-25219200	Flanking Active TSS	Hela-S3	cervix
35	chr20:25218000-25219400	Enhancers	Primary monocytes fromperipheralblood	blood
36	chr20:25218000-25219400	Enhancers	Psoas Muscle	Psoas
37	chr20:25218000-25219400	Enhancers	Right Ventricle	heart
38	chr20:25218000-25219400	Enhancers	Monocytes-CD14+_RO01746	blood
39	chr20:25218200-25219000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
40	chr20:25218200-25219000	Enhancers	Colonic Mucosa	Colon
41	chr20:25218200-25219200	Enhancers	Adipose Nuclei	Adipose
42	chr20:25218200-25219200	Enhancers	Left Ventricle	heart
43	chr20:25218200-25219200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
44	chr20:25218200-25219200	Enhancers	Spleen	Spleen
45	chr20:25218200-25219400	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr20:25218200-25219400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
47	chr20:25218200-25219400	Enhancers	Duodenum Smooth Muscle	Duodenum
48	chr20:25218200-25219400	Enhancers	Rectal Mucosa Donor 29	rectum
49	chr20:25218200-25219400	Enhancers	Rectal Smooth Muscle	rectum
50	chr20:25218200-25219400	Enhancers	Skeletal Muscle Female	skeletal muscle

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