Variant report

Variant	rs61015650
Chromosome Location	chr21:40160491-40160492
allele	A/C
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:40155047..40156844-chr21:40159379..40161340,2	MCF-7	breast:
2	chr21:40158041..40161910-chr21:40175596..40180594,8	K562	blood:
3	chr21:40159408..40162072-chr21:40163674..40168810,7	MCF-7	breast:
4	chr21:39714897..39716784-chr21:40158367..40161064,2	MCF-7	breast:
5	chr21:40159708..40161955-chr21:40178038..40180627,4	K562	blood:
6	chr21:40158174..40165115-chr21:40166769..40170231,7	K562	blood:
7	chr21:40159503..40161040-chr21:40181420..40184054,2	K562	blood:
8	chr21:40157809..40160879-chr21:40282729..40285436,3	MCF-7	breast:
9	chr21:40156704..40162526-chr21:40173499..40179988,10	MCF-7	breast:
10	chr21:40140717..40143513-chr21:40158331..40160522,2	MCF-7	breast:
11	chr21:40159737..40161887-chr21:40171918..40174307,2	MCF-7	breast:
12	chr21:40145518..40147915-chr21:40158381..40160685,2	K562	blood:
13	chr21:40158554..40160744-chr21:40179736..40182469,2	MCF-7	breast:
14	chr21:40156601..40161503-chr21:40174870..40178905,10	MCF-7	breast:
15	chr21:40021665..40023567-chr21:40158455..40160815,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000157557	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs28483264	1.00[AMR][1000 genomes]
rs57817437	1.00[AMR][1000 genomes]
rs7281397	1.00[AMR][1000 genomes]
rs73442786	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73448879	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73448890	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73448897	1.00[AMR][1000 genomes]
rs73450541	1.00[AMR][1000 genomes]
rs73450542	1.00[AMR][1000 genomes]
rs8126940	0.87[AFR][1000 genomes];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	nsv1058591	chr21:40114130-40190594	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv516348	chr21:40116044-40161381	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv913743	chr21:40116044-40161381	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1055623	chr21:40118451-40161072	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40156200-40163600	Enhancers	Fetal Intestine Small	intestine
2	chr21:40156400-40163200	Enhancers	Fetal Intestine Large	intestine
3	chr21:40157800-40161800	Weak transcription	Fetal Lung	lung
4	chr21:40158200-40161200	Enhancers	Rectal Mucosa Donor 31	rectum
5	chr21:40158600-40161000	Weak transcription	Small Intestine	intestine
6	chr21:40159200-40160600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr21:40159200-40160600	Enhancers	Placenta	Placenta
8	chr21:40159200-40160800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr21:40159200-40161400	Enhancers	Pancreas	Pancrea
10	chr21:40159600-40160600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr21:40159600-40160600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr21:40159600-40160600	Enhancers	Esophagus	oesophagus
13	chr21:40159600-40160600	Enhancers	HUVEC	blood vessel
14	chr21:40159600-40160800	Flanking Active TSS	HepG2	liver
15	chr21:40159800-40160600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr21:40159800-40160600	Enhancers	Fetal Muscle Trunk	muscle
17	chr21:40159800-40160600	Enhancers	Fetal Muscle Leg	muscle
18	chr21:40159800-40160600	Enhancers	Placenta Amnion	Placenta Amnion
19	chr21:40159800-40160600	Enhancers	Rectal Mucosa Donor 29	rectum
20	chr21:40159800-40160600	Flanking Active TSS	Stomach Mucosa	stomach
21	chr21:40159800-40160800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr21:40159800-40160800	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr21:40159800-40162800	Enhancers	Sigmoid Colon	Sigmoid Colon
24	chr21:40160000-40160600	Enhancers	Fetal Stomach	stomach
25	chr21:40160000-40160600	Enhancers	K562	blood
26	chr21:40160200-40160600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr21:40160200-40160600	Enhancers	NH-A	brain
28	chr21:40160200-40160600	Enhancers	NHDF-Ad	bronchial
29	chr21:40160200-40160800	Enhancers	GM12878-XiMat	blood
30	chr21:40160200-40160800	Enhancers	NHEK	skin
31	chr21:40160200-40161000	Enhancers	HMEC	breast
32	chr21:40160200-40161200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr21:40160200-40167400	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr21:40160400-40160800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr21:40160400-40160800	Enhancers	A549	lung
36	chr21:40160400-40160800	Enhancers	Hela-S3	cervix
37	chr21:40160400-40161000	Weak transcription	Colonic Mucosa	Colon
38	chr21:40160400-40161600	Weak transcription	Liver	Liver
39	chr21:40160400-40163200	Enhancers	Duodenum Mucosa	Duodenum

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