Variant report

Variant	rs1417765
Chromosome Location	chr1:226591243-226591244
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:226570760..226578039-chr1:226587444..226591845,7	K562	blood:
2	chr1:226567771..226569428-chr1:226590469..226593276,2	K562	blood:
3	chr1:226496580..226498654-chr1:226591150..226594803,3	K562	blood:
4	chr1:226589383..226591665-chr1:226794295..226796050,2	K562	blood:
5	chr1:226562550..226565404-chr1:226590775..226592475,2	K562	blood:
6	chr1:226590355..226593219-chr1:226593428..226595766,4	MCF-7	breast:
7	chr1:226549481..226552453-chr1:226589185..226592308,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000143799	Chromatin interaction
ENSG00000183814	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs1104893	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1341333	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1341335	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1341336	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1397550	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1805414	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1828445	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1828446	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1858548	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1858549	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1858550	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1865220	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1865221	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1865222	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2027439	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2048424	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2048426	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2136875	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2249844	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2570368	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2570369	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2570370	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2666427	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2666428	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2695235	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2695236	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2695237	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2695238	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2695239	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2695240	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2793376	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2793377	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2793378	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2793380	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2793382	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2793654	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2793655	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2793657	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3219090	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3219112	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3219119	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3754376	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs747657	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9426568	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[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	nsv832770	chr1:226465130-226655512	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv832781	chr1:226570901-226750697	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226543000-226591400	Strong transcription	Primary T cells from cord blood	blood
2	chr1:226543400-226591400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:226543600-226591400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr1:226544600-226591800	Strong transcription	Dnd41	blood
5	chr1:226563000-226591400	Weak transcription	Stomach Mucosa	stomach
6	chr1:226568800-226591400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr1:226578600-226592200	Weak transcription	Small Intestine	intestine
8	chr1:226581800-226591600	Strong transcription	Fetal Intestine Small	intestine
9	chr1:226587000-226592000	Strong transcription	NHEK	skin
10	chr1:226587600-226591400	Weak transcription	Fetal Brain Male	brain
11	chr1:226588800-226592000	Genic enhancers	Primary B cells from peripheral blood	blood
12	chr1:226589200-226592200	Weak transcription	HMEC	breast
13	chr1:226589400-226591400	Weak transcription	NHDF-Ad	bronchial
14	chr1:226589600-226591600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr1:226589600-226593200	Enhancers	Brain Hippocampus Middle	brain
16	chr1:226589800-226594000	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr1:226589800-226594000	Enhancers	Right Atrium	heart
18	chr1:226590000-226591400	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr1:226590000-226591400	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr1:226590000-226591600	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr1:226590000-226591600	Weak transcription	Osteobl	bone
22	chr1:226590000-226592000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr1:226590000-226592200	Weak transcription	Colonic Mucosa	Colon
24	chr1:226590000-226592200	Weak transcription	Fetal Intestine Large	intestine
25	chr1:226590000-226593000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr1:226590000-226593800	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr1:226590000-226593800	Enhancers	Right Ventricle	heart
28	chr1:226590000-226594000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr1:226590200-226591400	Genic enhancers	Fetal Muscle Trunk	muscle
30	chr1:226590200-226591600	Enhancers	Colon Smooth Muscle	Colon
31	chr1:226590200-226591800	Weak transcription	Gastric	stomach
32	chr1:226590200-226591800	Weak transcription	HUVEC	blood vessel
33	chr1:226590200-226592400	Genic enhancers	Primary T cells fromperipheralblood	blood
34	chr1:226590200-226593200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
35	chr1:226590200-226594000	Enhancers	Placenta	Placenta
36	chr1:226590200-226594000	Enhancers	Left Ventricle	heart
37	chr1:226590200-226594000	Enhancers	Pancreas	Pancrea
38	chr1:226590200-226594200	Enhancers	Psoas Muscle	Psoas
39	chr1:226590400-226591400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr1:226590400-226591400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr1:226590400-226591400	Weak transcription	NH-A	brain
42	chr1:226590400-226592000	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
43	chr1:226590400-226592200	Enhancers	Brain Angular Gyrus	brain
44	chr1:226590400-226592200	Enhancers	HepG2	liver
45	chr1:226590400-226592400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
46	chr1:226590400-226592600	Enhancers	Brain Inferior Temporal Lobe	brain
47	chr1:226590400-226593200	Enhancers	Brain Anterior Caudate	brain
48	chr1:226590400-226594000	Weak transcription	Aorta	Aorta
49	chr1:226590400-226594000	Enhancers	Ovary	ovary
50	chr1:226590400-226594200	Weak transcription	Rectal Mucosa Donor 31	rectum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links