Variant report

Variant	rs73367864
Chromosome Location	chr21:45065587-45065588
allele	A/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:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:44558893..44559623-chr21:45065116..45065995,3	MCF-7	breast:
2	chr21:44936296..44939345-chr21:45062332..45065604,3	MCF-7	breast:
3	chr21:44596396..44597313-chr21:45065147..45065707,2	MCF-7	breast:
4	chr21:44589709..44591969-chr21:45063947..45066903,2	MCF-7	breast:
5	chr21:45040425..45043053-chr21:45064104..45066805,2	K562	blood:
6	chr21:44907357..44909116-chr21:45065139..45067092,2	MCF-7	breast:
7	chr21:44595798..44598770-chr21:45063265..45067849,4	MCF-7	breast:
8	chr21:44924498..44927329-chr21:45064955..45067005,2	MCF-7	breast:
9	chr21:44596809..44598374-chr21:45064063..45066950,2	K562	blood:
10	chr21:44845491..44848059-chr21:45064442..45068550,5	MCF-7	breast:
11	chr21:44558844..44559672-chr21:45065125..45065744,2	K562	blood:
12	chr21:45031815..45032449-chr21:45065002..45065650,2	MCF-7	breast:
13	chr21:44596001..44597609-chr21:45065167..45067189,15	MCF-7	breast:
14	chr21:44752140..44754779-chr21:45064599..45066256,2	MCF-7	breast:
15	chr21:44596549..44597371-chr21:45065165..45066013,2	K562	blood:
16	chr21:44934396..44939488-chr21:45063795..45068503,7	MCF-7	breast:
17	chr21:44920448..44924375-chr21:45064080..45067016,3	MCF-7	breast:
18	chr21:44844308..44847193-chr21:45063897..45069393,7	MCF-7	breast:
19	chr21:45031421..45032366-chr21:45064813..45066113,4	K562	blood:
20	chr21:44867360..44868094-chr21:45065218..45066020,3	MCF-7	breast:
21	chr21:45031379..45032049-chr21:45064870..45066020,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000142178	Chromatin interaction
ENSG00000160202	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs73367835	1.00[AMR][1000 genomes]
rs73367844	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv834106	chr21:44992387-45109489	Strong transcription Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	15 gene(s)	inside rSNPs	diseases
3	nsv587700	chr21:45007956-45095200	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	14 gene(s)	inside rSNPs	diseases
4	nsv913874	chr21:45041790-45191005	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45058800-45065600	Weak transcription	Right Atrium	heart
2	chr21:45060400-45078600	Weak transcription	Pancreas	Pancrea
3	chr21:45061400-45065600	Weak transcription	Stomach Mucosa	stomach
4	chr21:45063200-45065600	Enhancers	Fetal Brain Female	brain
5	chr21:45063400-45066200	Enhancers	Fetal Brain Male	brain
6	chr21:45063400-45066400	Weak transcription	Fetal Kidney	kidney
7	chr21:45063400-45066600	Enhancers	HSMM	muscle
8	chr21:45063800-45066600	Enhancers	NHEK	skin
9	chr21:45064000-45065600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr21:45064000-45066600	Enhancers	Fetal Lung	lung
11	chr21:45064200-45065800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
12	chr21:45064200-45066200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr21:45064200-45066400	Flanking Active TSS	A549	lung
14	chr21:45064200-45066600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr21:45064200-45066600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr21:45064200-45066600	Enhancers	NH-A	brain
17	chr21:45064400-45065600	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr21:45064400-45066000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr21:45064400-45066000	Flanking Active TSS	Osteobl	bone
20	chr21:45064400-45066600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr21:45064400-45066600	Enhancers	Brain Hippocampus Middle	brain
22	chr21:45064400-45066600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr21:45064400-45066600	Enhancers	NHDF-Ad	bronchial
24	chr21:45064400-45066800	Enhancers	HUVEC	blood vessel
25	chr21:45064400-45067000	Enhancers	HepG2	liver
26	chr21:45064600-45065600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr21:45064600-45065600	Enhancers	GM12878-XiMat	blood
28	chr21:45064600-45065800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr21:45064600-45066600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr21:45064600-45066600	Enhancers	Placenta	Placenta
31	chr21:45064600-45066800	Enhancers	HMEC	breast
32	chr21:45064800-45066600	Enhancers	HSMMtube	muscle
33	chr21:45065000-45065800	Enhancers	Colon Smooth Muscle	Colon
34	chr21:45065000-45065800	Enhancers	Fetal Muscle Leg	muscle
35	chr21:45065000-45066800	Enhancers	Primary B cells from peripheral blood	blood
36	chr21:45065000-45066800	Enhancers	Primary hematopoietic stem cells	blood
37	chr21:45065000-45066800	Enhancers	Primary T helper cells PMA-I stimulated	--
38	chr21:45065000-45066800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
39	chr21:45065000-45066800	Enhancers	Fetal Heart	heart
40	chr21:45065000-45066800	Enhancers	Monocytes-CD14+_RO01746	blood
41	chr21:45065000-45067000	Enhancers	Adipose Nuclei	Adipose
42	chr21:45065200-45065600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr21:45065200-45065600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr21:45065200-45065600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
45	chr21:45065200-45065600	Enhancers	Rectal Mucosa Donor 29	rectum
46	chr21:45065200-45065600	Bivalent Enhancer	K562	blood
47	chr21:45065200-45066000	Flanking Active TSS	Hela-S3	cervix
48	chr21:45065200-45066200	Enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr21:45065200-45066400	Weak transcription	Small Intestine	intestine
50	chr21:45065200-45066600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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