Variant report

Variant	rs55741955
Chromosome Location	chr1:174872219-174872220
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	chr1:174870016..174872677-chr1:174967826..174970227,2	K562	blood:

Variant related genes	Relation type
ENSG00000116161	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10436863	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12083837	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1653626	0.81[EUR][1000 genomes]
rs1653627	0.83[EUR][1000 genomes]
rs1653632	0.86[EUR][1000 genomes]
rs1754349	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1754351	0.81[EUR][1000 genomes]
rs1754355	0.85[EUR][1000 genomes]
rs1793297	0.84[EUR][1000 genomes]
rs1793300	0.82[EUR][1000 genomes]
rs1793309	0.88[EUR][1000 genomes]
rs2187562	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2981894	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2987869	0.88[EUR][1000 genomes]
rs2987874	0.83[EUR][1000 genomes]
rs3018410	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3118980	0.81[EUR][1000 genomes]
rs3133270	0.86[EUR][1000 genomes]
rs332771	0.81[EUR][1000 genomes]
rs332773	0.80[EUR][1000 genomes]
rs332789	0.81[EUR][1000 genomes]
rs4233195	0.86[EUR][1000 genomes]
rs444678	0.80[EUR][1000 genomes]
rs461910	0.81[EUR][1000 genomes]
rs4651238	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61828140	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61828142	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6425305	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6656665	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6665216	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs66700013	0.80[AFR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7538588	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7545910	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9700904	0.82[EUR][1000 genomes]
rs9804056	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[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	esv2755184	chr1:174388343-174970343	Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:174844800-174874400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr1:174844800-174877400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:174846800-174874000	Weak transcription	Ovary	ovary
4	chr1:174847600-174874400	Weak transcription	Esophagus	oesophagus
5	chr1:174850200-174874800	Weak transcription	Fetal Stomach	stomach
6	chr1:174852000-174873400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr1:174852800-174874800	Weak transcription	Spleen	Spleen
8	chr1:174856800-174876400	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr1:174859000-174874000	Weak transcription	Brain Angular Gyrus	brain
10	chr1:174859600-174873400	Weak transcription	K562	blood
11	chr1:174861400-174876200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr1:174861400-174902400	Weak transcription	Left Ventricle	heart
13	chr1:174862800-174882400	Weak transcription	Fetal Lung	lung
14	chr1:174863200-174883200	Weak transcription	Small Intestine	intestine
15	chr1:174863400-174881400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr1:174863600-174873800	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr1:174863600-174874200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr1:174863800-174876000	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr1:174863800-174883000	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr1:174864200-174882000	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr1:174864600-174874000	Weak transcription	Aorta	Aorta
22	chr1:174868400-174873400	Weak transcription	Fetal Intestine Large	intestine
23	chr1:174868600-174872800	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr1:174868800-174874800	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr1:174869000-174875200	Strong transcription	HUES6 Cell Line	embryonic stem cell
26	chr1:174869600-174874400	Weak transcription	Brain Hippocampus Middle	brain
27	chr1:174869600-174877600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
28	chr1:174869800-174874000	Weak transcription	HSMMtube	muscle
29	chr1:174869800-174874600	Weak transcription	Primary T cells from cord blood	blood
30	chr1:174870000-174874800	Strong transcription	HUES64 Cell Line	embryonic stem cell
31	chr1:174870000-174877600	Weak transcription	Brain Anterior Caudate	brain
32	chr1:174870200-174874000	Weak transcription	Right Atrium	heart
33	chr1:174870800-174872400	Strong transcription	ES-I3 Cell Line	embryonic stem cell
34	chr1:174871000-174873800	Weak transcription	Primary B cells from peripheral blood	blood
35	chr1:174871000-174874200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr1:174871200-174872600	Strong transcription	Primary T cells fromperipheralblood	blood
37	chr1:174871400-174873600	Genic enhancers	H1 Cell Line	embryonic stem cell
38	chr1:174871600-174872800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr1:174871800-174873600	Genic enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr1:174871800-174878400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr1:174871800-174882000	Strong transcription	HUES48 Cell Line	embryonic stem cell
42	chr1:174872000-174873200	Weak transcription	Fetal Intestine Small	intestine
43	chr1:174872000-174873400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr1:174872000-174873600	Weak transcription	Duodenum Mucosa	Duodenum
45	chr1:174872000-174874000	Strong transcription	H9 Cell Line	embryonic stem cell
46	chr1:174872000-174875600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr1:174872000-174885800	Weak transcription	Pancreas	Pancrea
48	chr1:174872000-174886000	Weak transcription	Gastric	stomach
49	chr1:174872000-174889200	Weak transcription	Primary B cells from cord blood	blood
50	chr1:174872200-174872600	Flanking Active TSS	HMEC	breast

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