Variant report

Variant	rs61557483
Chromosome Location	chr1:211821123-211821124
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOS	chr1:211820974-211821173	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:211816134..211817787-chr1:211819701..211822516,2	K562	blood:
2	chr1:211808019..211810498-chr1:211819976..211822363,2	K562	blood:
3	chr1:211820504..211824177-chr1:211831233..211834573,3	MCF-7	breast:
4	chr1:211750037..211752864-chr1:211820167..211823136,4	MCF-7	breast:
5	chr1:211749200..211754595-chr1:211816014..211824648,8	K562	blood:
6	chr1:211819966..211822371-chr1:211824422..211826209,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000228792	TF binding region
ENSG00000228792	Chromatin interaction
ENSG00000170385	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs17017862	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17017912	1.00[AMR][1000 genomes]
rs17017917	1.00[AMR][1000 genomes]
rs17017925	1.00[AMR][1000 genomes]
rs56735408	1.00[AFR][1000 genomes]
rs57174828	1.00[AMR][1000 genomes]
rs59680042	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6661346	1.00[AMR][1000 genomes]
rs73075314	1.00[AMR][1000 genomes]
rs73075316	1.00[AMR][1000 genomes]
rs73075319	1.00[AMR][1000 genomes]
rs73075326	1.00[AMR][1000 genomes]
rs73075338	1.00[AMR][1000 genomes]
rs73075364	1.00[AMR][1000 genomes]
rs73075368	1.00[AMR][1000 genomes]
rs73075374	1.00[AMR][1000 genomes]
rs73075379	1.00[AMR][1000 genomes]
rs73075380	1.00[AMR][1000 genomes]
rs73078726	1.00[AMR][1000 genomes]
rs73078738	1.00[AMR][1000 genomes]
rs73078742	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73078769	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7539737	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010919	chr1:211804252-211823073	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211811400-211829600	Enhancers	Fetal Intestine Small	intestine
2	chr1:211811600-211828200	Enhancers	Fetal Intestine Large	intestine
3	chr1:211813600-211821600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr1:211813800-211822600	Weak transcription	NHDF-Ad	bronchial
5	chr1:211817200-211821200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr1:211817400-211827000	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr1:211817400-211827400	Weak transcription	Fetal Heart	heart
8	chr1:211817600-211821200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr1:211817600-211821200	Weak transcription	Brain Anterior Caudate	brain
10	chr1:211817600-211821200	Weak transcription	Colonic Mucosa	Colon
11	chr1:211817600-211821200	Weak transcription	Esophagus	oesophagus
12	chr1:211817600-211821200	Weak transcription	Placenta	Placenta
13	chr1:211817600-211821200	Weak transcription	Pancreas	Pancrea
14	chr1:211817600-211821200	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr1:211817600-211821200	Weak transcription	Stomach Mucosa	stomach
16	chr1:211817600-211821800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr1:211817600-211823000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr1:211817600-211823200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr1:211817600-211826800	Weak transcription	Gastric	stomach
20	chr1:211817600-211827000	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr1:211817600-211830600	Weak transcription	Right Atrium	heart
22	chr1:211817800-211821200	Weak transcription	HMEC	breast
23	chr1:211817800-211821600	Weak transcription	K562	blood
24	chr1:211818000-211821400	Weak transcription	Fetal Thymus	thymus
25	chr1:211818400-211821200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr1:211818400-211828400	Weak transcription	Adipose Nuclei	Adipose
27	chr1:211818600-211821200	Enhancers	Hela-S3	cervix
28	chr1:211818600-211823000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr1:211818800-211821200	Weak transcription	Liver	Liver
30	chr1:211819600-211824000	Enhancers	HUVEC	blood vessel
31	chr1:211819600-211824400	Enhancers	Duodenum Mucosa	Duodenum
32	chr1:211820200-211821600	Enhancers	A549	lung
33	chr1:211820400-211826800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr1:211820800-211824400	Enhancers	HepG2	liver
35	chr1:211821000-211821400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr1:211821000-211821400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
37	chr1:211821000-211822000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr1:211821000-211822200	Enhancers	NHEK	skin
39	chr1:211821000-211822600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr1:211821000-211823400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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