Variant report

Variant	rs506691
Chromosome Location	chr1:45449075-45449076
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:45444980..45449241-chr1:45450734..45453463,5	MCF-7	breast:
2	chr1:45446769..45450642-chr1:45450825..45453643,3	K562	blood:
3	chr1:45427848..45431686-chr1:45448944..45451154,3	K562	blood:
4	chr1:45447308..45449249-chr1:45476981..45478639,2	K562	blood:

Variant related genes	Relation type
ENSG00000126107	Chromatin interaction
ENSG00000070785	Chromatin interaction
ENSG00000126088	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs11573544	0.86[ASN][1000 genomes]
rs12072767	1.00[JPT][hapmap]
rs12407290	1.00[YRI][hapmap]
rs196764	1.00[AMR][1000 genomes]
rs2234479	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs2265603	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2355951	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2476170	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs263957	1.00[AMR][1000 genomes]
rs263958	0.86[ASN][1000 genomes]
rs263959	1.00[AMR][1000 genomes]
rs263963	1.00[AMR][1000 genomes]
rs263968	1.00[AMR][1000 genomes]
rs263972	1.00[AMR][1000 genomes]
rs263974	1.00[AMR][1000 genomes]
rs263976	1.00[AMR][1000 genomes]
rs263983	1.00[AMR][1000 genomes]
rs263984	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs263993	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs263995	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs264000	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs264001	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs264003	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs264012	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs264016	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs264017	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs264018	1.00[AFR][1000 genomes]
rs2883814	1.00[AFR][1000 genomes]
rs3738249	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs3923304	1.00[YRI][hapmap]
rs410800	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs411976	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41269097	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41269101	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41306605	0.87[ASN][1000 genomes]
rs428928	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs430057	1.00[AMR][1000 genomes]
rs449870	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4660292	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs474207	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs492515	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs536499	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs547476	1.00[AMR][1000 genomes]
rs577647	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs638062	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6429554	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs662660	1.00[AMR][1000 genomes]
rs7512137	0.87[ASN][1000 genomes]
rs7533668	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9429139	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529677	chr1:45179509-45748571	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	424 gene(s)	inside rSNPs	diseases
2	nsv1002026	chr1:45187594-45758048	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	386 gene(s)	inside rSNPs	diseases
3	nsv915644	chr1:45282802-45696079	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
4	nsv498036	chr1:45428030-46050934	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
5	esv2830314	chr1:45430218-45455285	Active TSS ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45389200-45450200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr1:45414000-45450800	Weak transcription	Rectal Smooth Muscle	rectum
3	chr1:45414000-45451000	Weak transcription	Spleen	Spleen
4	chr1:45421000-45450800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr1:45430800-45450800	Weak transcription	Brain Substantia Nigra	brain
6	chr1:45433200-45451000	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr1:45434400-45450800	Weak transcription	Small Intestine	intestine
8	chr1:45436400-45450800	Weak transcription	HMEC	breast
9	chr1:45436600-45450800	Weak transcription	Stomach Mucosa	stomach
10	chr1:45438000-45451000	Weak transcription	A549	lung
11	chr1:45438200-45450800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr1:45438400-45451000	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr1:45438600-45450800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr1:45440400-45451400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr1:45440800-45450800	Weak transcription	Right Ventricle	heart
16	chr1:45441600-45451200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr1:45442600-45450800	Weak transcription	Fetal Heart	heart
18	chr1:45443200-45451000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr1:45443400-45451000	Weak transcription	Right Atrium	heart
20	chr1:45443600-45450800	Weak transcription	Colonic Mucosa	Colon
21	chr1:45443800-45450800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr1:45443800-45451200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr1:45444000-45450800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr1:45444200-45450800	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr1:45444200-45450800	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr1:45444200-45451000	Weak transcription	Colon Smooth Muscle	Colon
27	chr1:45444200-45451000	Weak transcription	HSMMtube	muscle
28	chr1:45444600-45450200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr1:45444600-45451000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr1:45444600-45451200	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr1:45444600-45451200	Weak transcription	Left Ventricle	heart
32	chr1:45444800-45451000	Weak transcription	Pancreas	Pancrea
33	chr1:45444800-45451200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr1:45445200-45450200	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr1:45445400-45450800	Weak transcription	Gastric	stomach
36	chr1:45445800-45451000	Weak transcription	Fetal Lung	lung
37	chr1:45446000-45451000	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr1:45446000-45451200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr1:45446200-45450800	Weak transcription	Fetal Intestine Small	intestine
40	chr1:45446600-45450200	Weak transcription	HepG2	liver
41	chr1:45446600-45450800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr1:45446600-45450800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr1:45446600-45450800	Weak transcription	Fetal Brain Male	brain
44	chr1:45446600-45451000	Weak transcription	Primary B cells from cord blood	blood
45	chr1:45446600-45451000	Weak transcription	Primary hematopoietic stem cells	blood
46	chr1:45446600-45451000	Weak transcription	Thymus	Thymus
47	chr1:45446800-45450000	Weak transcription	Primary T helper cells PMA-I stimulated	--
48	chr1:45446800-45450800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr1:45446800-45450800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr1:45446800-45450800	Weak transcription	Breast Myoepithelial Primary Cells	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links