Variant report

Variant	rs86138
Chromosome Location	chr21:44932398-44932399
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:44760744..44765599-chr21:44927861..44932973,6	MCF-7	breast:
2	chr21:44839515..44855046-chr21:44918803..44938582,70	MCF-7	breast:
3	chr21:44930891..44933537-chr21:45017646..45020040,2	MCF-7	breast:
4	chr21:44930776..44932782-chr21:45029722..45031947,2	MCF-7	breast:
5	chr21:44761320..44764300-chr21:44930285..44932417,3	MCF-7	breast:
6	chr21:44930914..44932616-chr21:45078820..45080831,2	MCF-7	breast:
7	chr21:44931738..44933957-chr21:45005070..45008681,4	MCF-7	breast:
8	chr21:44931615..44933117-chr21:44949429..44951810,2	K562	blood:
9	chr21:44932097..44937071-chr21:45004878..45007611,5	MCF-7	breast:
10	chr21:44907078..44910492-chr21:44929665..44933076,4	MCF-7	breast:
11	chr21:44929924..44933951-chr21:45027796..45029708,3	MCF-7	breast:
12	chr21:44844533..44847872-chr21:44929082..44940063,13	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000142178	Chromatin interaction
ENSG00000160208	Chromatin interaction
ENSG00000160207	Chromatin interaction

Extended variants
information (count: 121 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:108)

rs_ID	r²[population]
rs1003280	0.94[ASN][1000 genomes]
rs1073522	0.95[ASN][1000 genomes]
rs1122873	0.93[ASN][1000 genomes]
rs12626757	0.94[ASN][1000 genomes]
rs12627667	0.80[ASN][1000 genomes]
rs1378079	0.95[ASN][1000 genomes]
rs1378080	0.95[ASN][1000 genomes]
rs141521	0.97[ASN][1000 genomes]
rs1454648	0.83[ASN][1000 genomes]
rs1454650	0.94[ASN][1000 genomes]
rs1454651	0.94[ASN][1000 genomes]
rs1584917	0.93[ASN][1000 genomes]
rs1584918	0.93[ASN][1000 genomes]
rs1598206	0.83[ASN][1000 genomes]
rs162343	0.90[ASN][1000 genomes]
rs162344	0.98[ASN][1000 genomes]
rs162345	0.98[ASN][1000 genomes]
rs162366	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs162367	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs162368	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs162369	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs162371	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs162372	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs162373	0.96[ASN][1000 genomes]
rs162374	0.83[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs162375	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs162376	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs162377	0.98[ASN][1000 genomes]
rs162378	0.97[ASN][1000 genomes]
rs162380	0.94[ASN][1000 genomes]
rs162381	0.94[ASN][1000 genomes]
rs162388	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs162389	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs162390	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs162391	0.97[ASN][1000 genomes]
rs162393	0.80[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs162394	0.80[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs162395	0.95[ASN][1000 genomes]
rs162396	0.95[ASN][1000 genomes]
rs162398	0.95[ASN][1000 genomes]
rs162399	0.80[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs162400	0.80[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs162402	0.97[ASN][1000 genomes]
rs162403	0.97[ASN][1000 genomes]
rs162404	0.95[ASN][1000 genomes]
rs167930	0.98[ASN][1000 genomes]
rs189094	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2051407	0.80[ASN][1000 genomes]
rs2246602	0.83[ASN][1000 genomes]
rs229340	0.83[ASN][1000 genomes]
rs229357	0.94[ASN][1000 genomes]
rs230640	0.95[ASN][1000 genomes]
rs230642	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs230643	0.95[ASN][1000 genomes]
rs230644	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs230645	0.84[ASN][1000 genomes]
rs230646	0.95[ASN][1000 genomes]
rs230647	0.95[ASN][1000 genomes]
rs2329442	0.93[ASN][1000 genomes]
rs2329443	0.82[ASN][1000 genomes]
rs2838316	0.94[ASN][1000 genomes]
rs2838317	0.94[ASN][1000 genomes]
rs2838319	0.94[ASN][1000 genomes]
rs2838321	0.94[ASN][1000 genomes]
rs2838322	0.94[ASN][1000 genomes]
rs2838323	0.94[ASN][1000 genomes]
rs2838324	0.94[ASN][1000 genomes]
rs2838328	0.95[ASN][1000 genomes]
rs2838329	0.95[ASN][1000 genomes]
rs2838330	0.95[ASN][1000 genomes]
rs2838331	0.95[ASN][1000 genomes]
rs2838336	0.80[ASN][1000 genomes]
rs2838337	0.81[ASN][1000 genomes]
rs2838339	0.80[ASN][1000 genomes]
rs2838341	0.80[ASN][1000 genomes]
rs28840140	0.93[ASN][1000 genomes]
rs35110281	0.80[ASN][1000 genomes]
rs3788062	0.94[ASN][1000 genomes]
rs463738	0.95[ASN][1000 genomes]
rs4818833	0.88[ASN][1000 genomes]
rs4818843	0.94[ASN][1000 genomes]
rs4818850	0.95[ASN][1000 genomes]
rs4818856	0.93[ASN][1000 genomes]
rs4819264	0.93[ASN][1000 genomes]
rs4819270	0.95[ASN][1000 genomes]
rs4997353	0.88[ASN][1000 genomes]
rs58451308	0.80[ASN][1000 genomes]
rs6518301	0.94[ASN][1000 genomes]
rs6518302	0.95[ASN][1000 genomes]
rs6518309	0.93[ASN][1000 genomes]
rs7275705	0.83[ASN][1000 genomes]
rs7276215	0.92[ASN][1000 genomes]
rs7276316	0.88[ASN][1000 genomes]
rs7277539	0.83[ASN][1000 genomes]
rs7279958	0.95[ASN][1000 genomes]
rs7282933	0.93[ASN][1000 genomes]
rs86139	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs91424	0.94[ASN][1000 genomes]
rs9306159	0.83[ASN][1000 genomes]
rs9974710	0.82[ASN][1000 genomes]
rs9976441	0.93[ASN][1000 genomes]
rs9976443	0.80[ASN][1000 genomes]
rs9978811	0.94[ASN][1000 genomes]
rs9980185	0.83[ASN][1000 genomes]
rs9981291	0.95[ASN][1000 genomes]
rs9981790	0.93[ASN][1000 genomes]
rs9983763	0.94[ASN][1000 genomes]
rs9984002	0.83[ASN][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	nsv1057726	chr21:44711850-44957303	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
2	nsv544466	chr21:44711850-44957303	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
3	nsv913868	chr21:44835508-44954522	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS 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 target site	98 gene(s)	inside rSNPs	diseases
4	esv1839560	chr21:44864079-44973184	Bivalent Enhancer Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
5	nsv913873	chr21:44879869-45142427	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
6	nsv587689	chr21:44884252-44986050	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
7	nsv1059264	chr21:44895863-44944515	Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
8	nsv1061539	chr21:44915533-45041824	Weak transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
9	nsv1067171	chr21:44921187-45039471	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
10	nsv521700	chr21:44925334-45041790	Enhancers Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
11	nsv470903	chr21:44925334-45061501	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
12	nsv459289	chr21:44925334-45064600	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
13	nsv587690	chr21:44925334-45064600	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS 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	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:44919800-44936800	Weak transcription	Fetal Brain Female	brain
2	chr21:44922800-44936000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr21:44923400-44934000	Weak transcription	Gastric	stomach
4	chr21:44923400-44936600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr21:44923400-44936600	Weak transcription	Brain Germinal Matrix	brain
6	chr21:44926800-44938200	Enhancers	Fetal Thymus	thymus
7	chr21:44928800-44941000	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr21:44929000-44933600	Enhancers	Fetal Muscle Leg	muscle
9	chr21:44929000-44933600	Enhancers	Spleen	Spleen
10	chr21:44929200-44932800	Enhancers	Fetal Stomach	stomach
11	chr21:44929200-44932800	Enhancers	HSMMtube	muscle
12	chr21:44929200-44933600	Enhancers	A549	lung
13	chr21:44929200-44937800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr21:44929200-44938200	Enhancers	HSMM	muscle
15	chr21:44929200-44943400	Enhancers	Placenta Amnion	Placenta Amnion
16	chr21:44929600-44943400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr21:44929800-44933000	Enhancers	Muscle Satellite Cultured Cells	--
18	chr21:44929800-44933200	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr21:44929800-44933400	Enhancers	Stomach Smooth Muscle	stomach
20	chr21:44929800-44933600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr21:44929800-44938600	Enhancers	Esophagus	oesophagus
22	chr21:44929800-44938800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr21:44929800-44943600	Enhancers	HMEC	breast
24	chr21:44930000-44932400	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr21:44930000-44932400	Enhancers	Psoas Muscle	Psoas
26	chr21:44930000-44933400	Enhancers	Placenta	Placenta
27	chr21:44930000-44934200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr21:44930200-44938400	Enhancers	Pancreas	Pancrea
29	chr21:44930200-44939000	Enhancers	Fetal Intestine Small	intestine
30	chr21:44930400-44935800	Enhancers	HepG2	liver
31	chr21:44930600-44934400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr21:44930600-44939800	Enhancers	Fetal Intestine Large	intestine
33	chr21:44930800-44933400	Enhancers	Fetal Lung	lung
34	chr21:44930800-44934200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr21:44930800-44937800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr21:44931200-44932600	Weak transcription	Hela-S3	cervix
37	chr21:44931200-44933200	Weak transcription	HUVEC	blood vessel
38	chr21:44931200-44933200	Weak transcription	NHDF-Ad	bronchial
39	chr21:44931200-44934000	Weak transcription	Left Ventricle	heart
40	chr21:44931200-44934200	Enhancers	Ovary	ovary
41	chr21:44931200-44934400	Weak transcription	Right Ventricle	heart
42	chr21:44931200-44934800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr21:44931400-44933200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr21:44931400-44933200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
45	chr21:44931400-44933200	Enhancers	Skeletal Muscle Male	skeletal muscle
46	chr21:44931400-44933800	Enhancers	NHEK	skin
47	chr21:44931400-44936400	Weak transcription	Fetal Kidney	kidney
48	chr21:44931600-44932800	Weak transcription	Osteobl	bone
49	chr21:44931600-44933000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr21:44931600-44933000	Enhancers	Colonic Mucosa	Colon

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