Variant report

Variant	rs60446665
Chromosome Location	chr7:105009793-105009794
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:105007315..105010553-chr7:105026431..105029268,4	MCF-7	breast:
2	chr7:105009330..105013041-chr7:105014599..105017566,3	K562	blood:
3	chr7:105009408..105012962-chr7:105018316..105021525,4	K562	blood:

Extended variants
information (count: 101 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs10224564	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10228503	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10230128	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10230449	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10233695	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10235252	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10240574	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10248422	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10248954	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10249170	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10252295	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10253496	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10255779	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10258841	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10259721	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10261613	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10261738	0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10261782	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10267633	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10272634	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10276153	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10280336	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10953473	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11764361	0.81[ASN][1000 genomes]
rs11769318	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11769936	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11973742	0.89[EUR][1000 genomes]
rs11973780	0.90[EUR][1000 genomes]
rs12537761	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12666949	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12669532	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12705305	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13223001	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13237370	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13246886	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17721991	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17778396	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1917047	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1978201	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2040913	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2237611	0.84[ASN][1000 genomes]
rs2237615	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2237616	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2237618	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2237619	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2237620	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2286124	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2299312	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2299313	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2299314	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2299316	0.90[EUR][1000 genomes]
rs2299320	0.90[EUR][1000 genomes]
rs2299325	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2299326	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2385542	0.85[ASN][1000 genomes]
rs2385556	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28461911	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28823350	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34003298	0.98[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34154773	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34717863	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34789097	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35442357	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35973577	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35993922	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3735372	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3779208	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3779209	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3801283	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4610671	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4727622	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4730078	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55796396	0.88[EUR][1000 genomes]
rs62488069	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6971241	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs717352	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs725506	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73186027	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73188303	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73188305	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73188321	0.81[ASN][1000 genomes]
rs7808168	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8180735	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8180737	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9641343	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9641347	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9641348	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34588	chr7:104737612-105153242	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	esv2757233	chr7:104758250-105208492	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	esv2759549	chr7:104758250-105208492	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv8196	chr7:104763559-105155978	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	esv34580	chr7:104763580-105153242	Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	esv2758127	chr7:104766707-105110581	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv1028228	chr7:104807207-105182998	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
8	nsv932138	chr7:104826194-105152816	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
9	nsv1015688	chr7:104849770-105182998	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
10	nsv1029832	chr7:104905057-105112489	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
11	nsv1023767	chr7:104931143-105190662	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
12	nsv539049	chr7:104931143-105190662	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
13	nsv1034689	chr7:104950564-105085879	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
14	nsv1022065	chr7:104997315-105190662	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:104995200-105028200	Weak transcription	Esophagus	oesophagus
2	chr7:104995400-105028000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr7:104995600-105027200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr7:104995800-105027200	Weak transcription	Primary T cells from cord blood	blood
5	chr7:104996400-105017000	Weak transcription	Fetal Muscle Leg	muscle
6	chr7:104997400-105013000	Weak transcription	Dnd41	blood
7	chr7:104997400-105026800	Weak transcription	Primary B cells from cord blood	blood
8	chr7:104999800-105010000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr7:105000000-105018000	Weak transcription	Lung	lung
10	chr7:105000000-105021800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr7:105000000-105028200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr7:105000200-105025800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr7:105003200-105027600	Weak transcription	Fetal Intestine Small	intestine
14	chr7:105003600-105025200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr7:105004600-105010600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr7:105005000-105021200	Weak transcription	Fetal Stomach	stomach
17	chr7:105005600-105014400	Weak transcription	Ovary	ovary
18	chr7:105006000-105010000	Enhancers	K562	blood
19	chr7:105006200-105017400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr7:105006200-105027600	Weak transcription	Hela-S3	cervix
21	chr7:105006400-105021400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr7:105006400-105027400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr7:105006600-105010000	Weak transcription	HUVEC	blood vessel
24	chr7:105007400-105010000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr7:105007400-105011000	Enhancers	A549	lung
26	chr7:105007400-105011200	Enhancers	HepG2	liver
27	chr7:105007800-105009800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr7:105008000-105017600	Weak transcription	Gastric	stomach
29	chr7:105008200-105015800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr7:105008200-105028200	Weak transcription	Pancreas	Pancrea
31	chr7:105008400-105010000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr7:105008600-105010400	Weak transcription	Liver	Liver
33	chr7:105008800-105010000	Enhancers	Primary B cells from peripheral blood	blood
34	chr7:105008800-105010000	Enhancers	Muscle Satellite Cultured Cells	--
35	chr7:105008800-105010000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr7:105008800-105013200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
37	chr7:105009200-105009800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr7:105009200-105010000	Weak transcription	Right Atrium	heart
39	chr7:105009200-105015600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr7:105009200-105018600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr7:105009200-105027200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr7:105009200-105028000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr7:105009200-105028000	Weak transcription	Psoas Muscle	Psoas
44	chr7:105009400-105010600	Weak transcription	Primary T helper cells PMA-I stimulated	--
45	chr7:105009400-105010600	Weak transcription	Primary T helper cells fromperipheralblood	blood
46	chr7:105009600-105010600	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr7:105009600-105011000	Weak transcription	Primary T cells fromperipheralblood	blood
48	chr7:105009600-105018000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links