Variant report

Variant	rs41271955
Chromosome Location	chr1:161932148-161932149
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:161930299..161933579-chr1:161936760..161939444,3	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10494361	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1394065	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16832983	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16834361	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs16852851	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs41271953	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41271959	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4532807	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61104653	0.84[ASN][1000 genomes]
rs73019349	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73019352	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73021203	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74125022	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs74125028	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33393	chr1:161478681-162080327	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
2	nsv464206	chr1:161798239-162067447	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv470744	chr1:161798239-162067447	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv548077	chr1:161798239-162067447	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv1007108	chr1:161925814-162002917	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
6	nsv831747	chr1:161926367-162103311	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs41271955	ATF6	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161861600-161936000	Weak transcription	Fetal Intestine Small	intestine
2	chr1:161897800-161940000	Weak transcription	Brain Germinal Matrix	brain
3	chr1:161901400-161935400	Weak transcription	Fetal Lung	lung
4	chr1:161902800-161943400	Weak transcription	Esophagus	oesophagus
5	chr1:161904800-161956600	Weak transcription	Fetal Brain Male	brain
6	chr1:161906800-161932200	Weak transcription	Stomach Mucosa	stomach
7	chr1:161911000-161937200	Weak transcription	Gastric	stomach
8	chr1:161911600-161939400	Weak transcription	HepG2	liver
9	chr1:161912600-161941600	Weak transcription	Fetal Kidney	kidney
10	chr1:161916200-161935600	Weak transcription	Fetal Muscle Trunk	muscle
11	chr1:161924200-161932200	Weak transcription	Brain Angular Gyrus	brain
12	chr1:161925000-161937600	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr1:161925400-161932200	Strong transcription	Primary B cells from peripheral blood	blood
14	chr1:161926200-161939400	Weak transcription	Fetal Heart	heart
15	chr1:161926200-161942200	Weak transcription	Right Ventricle	heart
16	chr1:161926800-161935200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr1:161927000-161933600	Strong transcription	Primary T cells from cord blood	blood
18	chr1:161927000-161944000	Weak transcription	Colonic Mucosa	Colon
19	chr1:161927400-161933800	Strong transcription	Dnd41	blood
20	chr1:161927600-161933800	Strong transcription	Primary hematopoietic stem cells	blood
21	chr1:161927800-161933600	Strong transcription	Liver	Liver
22	chr1:161927800-161937600	Strong transcription	Primary B cells from cord blood	blood
23	chr1:161928200-161938000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
24	chr1:161928200-161938800	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr1:161928400-161941800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr1:161928600-161939000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr1:161929000-161943800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr1:161929200-161936600	Weak transcription	Thymus	Thymus
29	chr1:161929200-161944000	Weak transcription	Ovary	ovary
30	chr1:161930800-161933000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr1:161931000-161932200	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr1:161931000-161932200	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr1:161931000-161932400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
34	chr1:161931000-161932400	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr1:161931000-161936600	Weak transcription	Left Ventricle	heart
36	chr1:161931000-161938400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr1:161931000-161939600	Weak transcription	Fetal Brain Female	brain
38	chr1:161931000-161943200	Weak transcription	Placenta	Placenta
39	chr1:161931200-161932600	Enhancers	Fetal Muscle Leg	muscle
40	chr1:161931200-161935000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr1:161931200-161935600	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr1:161931200-161936000	Weak transcription	Fetal Stomach	stomach
43	chr1:161931200-161936600	Weak transcription	Pancreas	Pancrea
44	chr1:161931200-161937000	Weak transcription	Lung	lung
45	chr1:161931200-161940400	Weak transcription	Fetal Thymus	thymus
46	chr1:161931200-161940600	Weak transcription	Fetal Intestine Large	intestine
47	chr1:161931200-161942400	Weak transcription	Spleen	Spleen
48	chr1:161931200-161943400	Weak transcription	Psoas Muscle	Psoas
49	chr1:161931400-161932200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
50	chr1:161931400-161933000	Enhancers	Rectal Smooth Muscle	rectum

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