Variant report

Variant	rs61837630
Chromosome Location	chr1:223440438-223440439
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:223435954..223437626-chr1:223439880..223442185,2	K562	blood:
2	chr1:223434545..223436405-chr1:223440179..223441751,2	K562	blood:
3	chr1:223439513..223441100-chr1:223441175..223442688,2	K562	blood:
4	chr1:223438407..223440755-chr1:223638365..223640039,2	K562	blood:

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs1400961	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1418150	0.87[EUR][1000 genomes]
rs1418152	0.88[EUR][1000 genomes]
rs1418153	0.87[EUR][1000 genomes]
rs1640846	0.83[EUR][1000 genomes]
rs1640849	0.83[EUR][1000 genomes]
rs17161988	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17163765	0.89[EUR][1000 genomes]
rs17479856	0.86[EUR][1000 genomes]
rs17517952	0.84[EUR][1000 genomes]
rs17518077	0.84[EUR][1000 genomes]
rs17538964	0.85[EUR][1000 genomes]
rs17576822	0.89[EUR][1000 genomes]
rs17577025	0.87[EUR][1000 genomes]
rs17577212	0.84[EUR][1000 genomes]
rs1773710	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1773713	0.83[EUR][1000 genomes]
rs1829310	0.84[EUR][1000 genomes]
rs28561511	0.84[EUR][1000 genomes]
rs35133329	0.87[AFR][1000 genomes]
rs3820596	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61837627	0.82[EUR][1000 genomes]
rs61837629	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61837633	0.89[EUR][1000 genomes]
rs61837634	0.87[EUR][1000 genomes]
rs61837635	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61837636	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61837638	0.87[EUR][1000 genomes]
rs61837640	0.87[EUR][1000 genomes]
rs61838191	0.86[EUR][1000 genomes]
rs61838192	0.86[EUR][1000 genomes]
rs61838194	0.86[EUR][1000 genomes]
rs61838197	0.84[EUR][1000 genomes]
rs61838199	0.84[EUR][1000 genomes]
rs712857	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs712858	0.82[EUR][1000 genomes]
rs73122234	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7412060	0.86[EUR][1000 genomes]
rs74145795	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7518292	0.86[EUR][1000 genomes]
rs851194	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs851196	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs851201	0.80[EUR][1000 genomes]
rs885279	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9442040	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9442043	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012537	chr1:222755091-223512243	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv1000039	chr1:223429733-223527845	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223427400-223442000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr1:223432400-223442200	Weak transcription	Pancreas	Pancrea
3	chr1:223433200-223444600	Weak transcription	Esophagus	oesophagus
4	chr1:223438000-223443600	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr1:223438400-223441000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr1:223438600-223442800	Weak transcription	Gastric	stomach
7	chr1:223438800-223440800	Strong transcription	Ovary	ovary
8	chr1:223438800-223442200	Weak transcription	K562	blood
9	chr1:223439200-223442200	Weak transcription	Primary T cells from cord blood	blood
10	chr1:223439600-223440600	Strong transcription	Primary T helper cells fromperipheralblood	blood
11	chr1:223440000-223440800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr1:223440200-223440600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr1:223440200-223440600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr1:223440200-223440600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr1:223440200-223440800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr1:223440200-223441200	Enhancers	Fetal Intestine Small	intestine
17	chr1:223440400-223440600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
18	chr1:223440400-223440800	Enhancers	Fetal Intestine Large	intestine
19	chr1:223440400-223441200	Enhancers	Pancreatic Islets	Pancreatic Islet
20	chr1:223440400-223442400	Weak transcription	Stomach Mucosa	stomach
21	chr1:223440400-223446000	Weak transcription	Brain Anterior Caudate	brain

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