Variant report

Variant	rs7553993
Chromosome Location	chr1:70724150-70724151
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:70723910..70726507-chr1:70729004..70731025,2	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10157062	0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs17357463	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3767209	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3767210	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3767211	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs487613	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55782523	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56200611	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56297507	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61784317	0.81[AMR][1000 genomes]
rs61784318	0.81[AMR][1000 genomes]
rs61785271	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61785280	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61785281	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61785283	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61785284	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61785285	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61785288	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6696040	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7552694	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][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	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
2	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:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:70688000-70819200	Weak transcription	Esophagus	oesophagus
2	chr1:70700600-70738800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:70708600-70733800	Weak transcription	Pancreas	Pancrea
4	chr1:70710800-70756200	Weak transcription	Aorta	Aorta
5	chr1:70711200-70733000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr1:70711800-70733600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr1:70714000-70767000	Weak transcription	HSMMtube	muscle
8	chr1:70714200-70756000	Weak transcription	Colonic Mucosa	Colon
9	chr1:70715600-70733600	Weak transcription	Thymus	Thymus
10	chr1:70715600-70767800	Weak transcription	Small Intestine	intestine
11	chr1:70715800-70731200	Weak transcription	Fetal Intestine Small	intestine
12	chr1:70715800-70747200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr1:70715800-70756200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr1:70715800-70771000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr1:70716000-70775600	Weak transcription	Spleen	Spleen
16	chr1:70716200-70775200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr1:70716600-70739000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr1:70716800-70727800	Weak transcription	Fetal Lung	lung
19	chr1:70716800-70730600	Weak transcription	Left Ventricle	heart
20	chr1:70716800-70732800	Weak transcription	Psoas Muscle	Psoas
21	chr1:70716800-70733400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr1:70716800-70733600	Weak transcription	Ovary	ovary
23	chr1:70716800-70737800	Weak transcription	Fetal Muscle Trunk	muscle
24	chr1:70716800-70769000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr1:70716800-70769400	Weak transcription	Right Ventricle	heart
26	chr1:70716800-70815800	Weak transcription	Brain Angular Gyrus	brain
27	chr1:70717000-70733600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr1:70717000-70736400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr1:70717000-70740200	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr1:70717000-70746200	Weak transcription	Brain Hippocampus Middle	brain
31	chr1:70717000-70755600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr1:70717000-70759000	Weak transcription	Rectal Smooth Muscle	rectum
33	chr1:70717200-70731600	Weak transcription	Fetal Kidney	kidney
34	chr1:70717200-70759000	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr1:70717600-70727600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr1:70717600-70728200	Weak transcription	HepG2	liver
37	chr1:70717600-70728400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr1:70717600-70730200	Weak transcription	K562	blood
39	chr1:70717600-70732600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr1:70717600-70733000	Weak transcription	Fetal Intestine Large	intestine
41	chr1:70717600-70733200	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr1:70717600-70736000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr1:70717600-70746000	Weak transcription	Fetal Brain Male	brain
44	chr1:70717600-70752200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr1:70717600-70755000	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr1:70717600-70765000	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr1:70717600-70780400	Weak transcription	Brain Substantia Nigra	brain
48	chr1:70717800-70726200	Weak transcription	Primary hematopoietic stem cells	blood
49	chr1:70717800-70726800	Weak transcription	Primary T helper cells fromperipheralblood	blood
50	chr1:70717800-70727600	Weak transcription	NHEK	skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links