Variant report

Variant	rs1976333
Chromosome Location	chr1:213227327-213227328
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:213227020..213230163-chr1:213238856..213241134,3	K562	blood:
2	chr1:213187470..213190491-chr1:213226367..213230214,4	K562	blood:

Variant related genes	Relation type
ENSG00000174606	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10127851	0.84[EUR][1000 genomes]
rs10465694	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10864034	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10864036	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11120082	0.84[EUR][1000 genomes]
rs1566247	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1566248	0.82[EUR][1000 genomes]
rs2132428	0.83[ASN][1000 genomes]
rs2172982	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2173398	0.84[EUR][1000 genomes]
rs2817976	0.82[EUR][1000 genomes]
rs2935209	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2935219	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2936010	0.82[EUR][1000 genomes]
rs2936011	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3002285	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3010779	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs3010780	0.83[ASN][1000 genomes]
rs3010787	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3010789	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3124668	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4543872	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4951475	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4951476	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4951478	0.81[EUR][1000 genomes]
rs4951479	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4951662	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4951677	0.84[EUR][1000 genomes]
rs6540774	0.83[EUR][1000 genomes]
rs6540776	0.82[EUR][1000 genomes]
rs6540778	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6540780	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6540781	0.88[EUR][1000 genomes]
rs6540782	0.84[EUR][1000 genomes]
rs6657234	0.88[EUR][1000 genomes]
rs6658259	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6666814	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6670025	0.88[ASN][1000 genomes]
rs6671872	0.88[EUR][1000 genomes]
rs6679510	0.82[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs6691488	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6692056	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6692144	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6693291	0.82[EUR][1000 genomes]
rs6697921	0.82[EUR][1000 genomes]
rs6699158	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6700169	0.84[EUR][1000 genomes]
rs7535369	0.84[EUR][1000 genomes]
rs7547274	0.84[EUR][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	nsv1008594	chr1:213110654-213236750	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs1976333	RPS6KC1	cis	Artery Tibial	GTEx
rs1976333	ANGEL2	cis	Esophagus Mucosa	GTEx
rs1976333	ANGEL2	cis	Nerve Tibial	GTEx

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:213225200-213253400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr1:213225200-213254400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:213225400-213227800	Enhancers	Fetal Lung	lung
4	chr1:213225400-213228400	Weak transcription	Gastric	stomach
5	chr1:213225400-213229600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr1:213225400-213229600	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr1:213225400-213254000	Weak transcription	Aorta	Aorta
8	chr1:213225400-213254000	Weak transcription	Left Ventricle	heart
9	chr1:213225400-213256600	Weak transcription	Ovary	ovary
10	chr1:213225600-213227400	Enhancers	Brain Hippocampus Middle	brain
11	chr1:213225600-213228200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr1:213225600-213228200	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr1:213225600-213228400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr1:213225600-213229400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr1:213225600-213229800	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr1:213225600-213229800	Weak transcription	Fetal Intestine Small	intestine
17	chr1:213225600-213234000	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr1:213225600-213236000	Weak transcription	Right Atrium	heart
19	chr1:213225600-213243600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr1:213225600-213244000	Weak transcription	HSMM	muscle
21	chr1:213225800-213227400	Enhancers	Fetal Brain Male	brain
22	chr1:213225800-213227800	Weak transcription	NHEK	skin
23	chr1:213225800-213228000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr1:213225800-213228400	Weak transcription	Osteobl	bone
25	chr1:213225800-213228600	Weak transcription	NH-A	brain
26	chr1:213225800-213229200	Weak transcription	Brain Angular Gyrus	brain
27	chr1:213225800-213229600	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr1:213225800-213229800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr1:213225800-213230200	Weak transcription	Fetal Intestine Large	intestine
30	chr1:213225800-213230200	Weak transcription	Psoas Muscle	Psoas
31	chr1:213225800-213234200	Weak transcription	Primary B cells from cord blood	blood
32	chr1:213225800-213252800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr1:213225800-213254000	Weak transcription	Primary T cells from cord blood	blood
34	chr1:213226000-213233200	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr1:213226000-213254000	Weak transcription	Fetal Muscle Leg	muscle
36	chr1:213226200-213228000	Enhancers	Brain Cingulate Gyrus	brain
37	chr1:213226200-213228800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr1:213226200-213243800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr1:213226200-213252800	Weak transcription	Fetal Stomach	stomach
40	chr1:213226400-213228000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr1:213226400-213228000	Weak transcription	HMEC	breast
42	chr1:213226400-213228200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr1:213226400-213228600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr1:213226400-213228800	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr1:213226400-213229400	Weak transcription	NHDF-Ad	bronchial
46	chr1:213226400-213229800	Weak transcription	Brain Substantia Nigra	brain
47	chr1:213226400-213230200	Weak transcription	Pancreas	Pancrea
48	chr1:213226600-213227600	Enhancers	HepG2	liver
49	chr1:213226600-213228400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr1:213226600-213228600	Weak transcription	A549	lung

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