Variant report

Variant	rs61785280
Chromosome Location	chr1:70719583-70719584
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:70714159..70717525-chr1:70719321..70722644,5	K562	blood:
2	chr1:70692896..70695423-chr1:70718003..70720357,3	K562	blood:
3	chr1:70714127..70716625-chr1:70718344..70722644,5	K562	blood:
4	chr1:70717775..70720172-chr1:70724645..70726966,2	K562	blood:

Variant related genes	Relation type
ENSG00000116754	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10157062	0.88[ASN][1000 genomes]
rs17357463	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs28537484	0.81[AMR][1000 genomes]
rs3767209	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3767210	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3767211	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs41287888	0.81[AMR][1000 genomes]
rs487613	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55634563	0.83[AMR][1000 genomes]
rs55782523	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs55970826	0.83[AMR][1000 genomes]
rs56200611	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56297507	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61784315	0.81[AMR][1000 genomes]
rs61784317	0.85[AMR][1000 genomes]
rs61784318	0.85[AMR][1000 genomes]
rs61784319	0.83[AMR][1000 genomes]
rs61784320	0.83[AMR][1000 genomes]
rs61785271	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61785281	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61785283	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61785284	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61785285	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61785288	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6678316	0.88[AMR][1000 genomes]
rs6696040	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7552694	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7553993	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][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	esv1798518	chr1:70604106-70723347	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	esv1797140	chr1:70604106-70724622	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv871898	chr1:70681486-70723347	Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv1014292	chr1:70689215-70799065	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:70688000-70819200	Weak transcription	Esophagus	oesophagus
2	chr1:70688600-70719800	Strong transcription	Fetal Thymus	thymus
3	chr1:70690200-70719800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:70690400-70719800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr1:70693600-70719600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr1:70693800-70719600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
7	chr1:70693800-70719800	Strong transcription	Muscle Satellite Cultured Cells	--
8	chr1:70694200-70719600	Strong transcription	HSMM	muscle
9	chr1:70700600-70738800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:70700800-70720000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr1:70708600-70733800	Weak transcription	Pancreas	Pancrea
12	chr1:70710800-70721200	Weak transcription	Gastric	stomach
13	chr1:70710800-70723400	Weak transcription	Lung	lung
14	chr1:70710800-70756200	Weak transcription	Aorta	Aorta
15	chr1:70711200-70733000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr1:70711800-70733600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr1:70712200-70723400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr1:70713000-70719800	Strong transcription	Brain Germinal Matrix	brain
19	chr1:70714000-70767000	Weak transcription	HSMMtube	muscle
20	chr1:70714200-70756000	Weak transcription	Colonic Mucosa	Colon
21	chr1:70715000-70719600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr1:70715600-70733600	Weak transcription	Thymus	Thymus
23	chr1:70715600-70767800	Weak transcription	Small Intestine	intestine
24	chr1:70715800-70722600	Weak transcription	Fetal Stomach	stomach
25	chr1:70715800-70731200	Weak transcription	Fetal Intestine Small	intestine
26	chr1:70715800-70747200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr1:70715800-70756200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr1:70715800-70771000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr1:70716000-70775600	Weak transcription	Spleen	Spleen
30	chr1:70716200-70775200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr1:70716600-70739000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr1:70716800-70727800	Weak transcription	Fetal Lung	lung
33	chr1:70716800-70730600	Weak transcription	Left Ventricle	heart
34	chr1:70716800-70732800	Weak transcription	Psoas Muscle	Psoas
35	chr1:70716800-70733400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr1:70716800-70733600	Weak transcription	Ovary	ovary
37	chr1:70716800-70737800	Weak transcription	Fetal Muscle Trunk	muscle
38	chr1:70716800-70769000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr1:70716800-70769400	Weak transcription	Right Ventricle	heart
40	chr1:70716800-70815800	Weak transcription	Brain Angular Gyrus	brain
41	chr1:70717000-70722200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr1:70717000-70733600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr1:70717000-70736400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr1:70717000-70740200	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr1:70717000-70746200	Weak transcription	Brain Hippocampus Middle	brain
46	chr1:70717000-70755600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr1:70717000-70759000	Weak transcription	Rectal Smooth Muscle	rectum
48	chr1:70717200-70722200	Weak transcription	Fetal Heart	heart
49	chr1:70717200-70731600	Weak transcription	Fetal Kidney	kidney
50	chr1:70717200-70759000	Weak transcription	Brain Inferior Temporal Lobe	brain

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