Variant report

Variant	rs771454
Chromosome Location	chr1:93831489-93831490
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1081522	0.84[ASN][1000 genomes]
rs10874766	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11164896	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11164905	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11164908	0.83[ASN][1000 genomes]
rs12027142	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12031709	0.81[ASN][1000 genomes]
rs12033147	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12036057	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12038046	0.80[EUR][1000 genomes]
rs12045001	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12046063	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12405487	0.80[ASN][1000 genomes]
rs12563120	0.82[ASN][1000 genomes]
rs12563709	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12566752	0.83[ASN][1000 genomes]
rs1365297	0.83[ASN][1000 genomes]
rs2391251	0.80[ASN][1000 genomes]
rs2484486	0.80[EUR][1000 genomes]
rs2783505	0.80[EUR][1000 genomes]
rs28782525	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2893242	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3087457	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35628716	0.87[ASN][1000 genomes]
rs35910103	0.86[ASN][1000 genomes]
rs35915989	0.86[ASN][1000 genomes]
rs3904666	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4847425	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61266405	0.83[ASN][1000 genomes]
rs61799470	0.80[EUR][1000 genomes]
rs61799497	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61799516	0.80[ASN][1000 genomes]
rs61799517	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61799538	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6676902	0.80[ASN][1000 genomes]
rs6684908	0.80[ASN][1000 genomes]
rs698927	0.87[ASN][1000 genomes]
rs771458	0.87[ASN][1000 genomes]
rs771461	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs771462	0.87[ASN][1000 genomes]
rs771465	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs771470	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs771476	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs771478	0.84[ASN][1000 genomes]
rs771479	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs771481	0.84[ASN][1000 genomes]
rs771482	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs810027	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs812214	0.83[ASN][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	nsv871640	chr1:93807122-93953469	Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs771454	DR1	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93812800-93832200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:93813400-93840000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr1:93813400-93840400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr1:93815400-93839800	Weak transcription	Aorta	Aorta
5	chr1:93815600-93834800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:93816000-93832200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr1:93816600-93841800	Weak transcription	Brain Cingulate Gyrus	brain
8	chr1:93816800-93841200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr1:93817800-93832400	Weak transcription	Psoas Muscle	Psoas
10	chr1:93818000-93835400	Weak transcription	Small Intestine	intestine
11	chr1:93818400-93836000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr1:93818800-93837200	Weak transcription	Fetal Kidney	kidney
13	chr1:93819000-93833200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr1:93819400-93832000	Strong transcription	HSMM	muscle
15	chr1:93819400-93834600	Strong transcription	Primary B cells from peripheral blood	blood
16	chr1:93820600-93837200	Weak transcription	Colonic Mucosa	Colon
17	chr1:93821000-93838800	Weak transcription	Ovary	ovary
18	chr1:93821200-93835200	Weak transcription	Stomach Smooth Muscle	stomach
19	chr1:93822200-93835800	Strong transcription	Dnd41	blood
20	chr1:93822200-93840200	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr1:93823800-93834600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr1:93824200-93832000	Weak transcription	Fetal Stomach	stomach
23	chr1:93824200-93832200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr1:93824200-93832200	Weak transcription	Fetal Intestine Small	intestine
25	chr1:93824200-93833000	Weak transcription	Esophagus	oesophagus
26	chr1:93824200-93833000	Weak transcription	Gastric	stomach
27	chr1:93824200-93833400	Strong transcription	Primary T cells fromperipheralblood	blood
28	chr1:93824200-93838200	Weak transcription	Pancreas	Pancrea
29	chr1:93824200-93839400	Weak transcription	Lung	lung
30	chr1:93824200-93839800	Weak transcription	Fetal Brain Female	brain
31	chr1:93824200-93840000	Weak transcription	Right Ventricle	heart
32	chr1:93824200-93841000	Weak transcription	Brain Germinal Matrix	brain
33	chr1:93824200-93841000	Weak transcription	Spleen	Spleen
34	chr1:93824400-93831800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
35	chr1:93824400-93839400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr1:93824400-93839400	Weak transcription	Brain Anterior Caudate	brain
37	chr1:93824400-93842000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr1:93824600-93833200	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr1:93824600-93838200	Weak transcription	Fetal Heart	heart
40	chr1:93824600-93840000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr1:93825000-93836000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr1:93825200-93832400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr1:93825200-93833600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr1:93825200-93840800	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr1:93825400-93833800	Strong transcription	HUES48 Cell Line	embryonic stem cell
46	chr1:93825400-93840600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr1:93825600-93835200	Strong transcription	HUES64 Cell Line	embryonic stem cell
48	chr1:93825600-93839400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr1:93825800-93832800	Weak transcription	Brain Angular Gyrus	brain
50	chr1:93826200-93833200	Strong transcription	Primary T helper cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links