Variant report

Variant	rs73188303
Chromosome Location	chr7:104998047-104998048
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	chr7:104663218..104665844-chr7:104995701..104998605,2	K562	blood:
2	chr7:104996114..104998066-chr7:105006500..105008822,2	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	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10228503	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10230128	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10230449	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10233695	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10235252	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10240574	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10248422	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10248954	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10249170	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10252295	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10253496	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10255779	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10258841	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10259721	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10261613	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10261738	0.95[AFR][1000 genomes];0.84[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs10261782	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10267633	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10272634	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10276153	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10280336	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10953473	0.88[AFR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11764361	0.81[ASN][1000 genomes]
rs11769318	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11769936	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11973742	0.86[EUR][1000 genomes]
rs11973780	0.87[EUR][1000 genomes]
rs12537761	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12666949	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12669532	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12705305	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13223001	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13237370	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13246886	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17721991	0.87[EUR][1000 genomes]
rs17778396	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1917047	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1978201	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2040913	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2237611	0.80[AFR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2237615	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2237616	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2237618	0.85[AFR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2237619	0.85[AFR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2237620	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2286124	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2299312	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2299313	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2299314	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2299316	0.87[EUR][1000 genomes]
rs2299320	0.87[EUR][1000 genomes]
rs2299325	0.84[ASN][1000 genomes]
rs2299326	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2385542	0.80[AFR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2385556	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28461911	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28823350	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34003298	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34154773	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34717863	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34789097	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35442357	0.86[AFR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35973577	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35993922	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3735372	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3779208	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3779209	0.83[AFR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3801283	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4610671	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4727622	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4730078	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55796396	0.85[EUR][1000 genomes]
rs60446665	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62488069	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6971241	0.82[AFR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs717352	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs725506	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73186027	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73188305	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73188321	0.81[ASN][1000 genomes]
rs7808168	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8180735	0.85[AFR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8180737	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9641343	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9641347	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9641348	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[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:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:104973200-104998800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:104984000-104999200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr7:104993000-104999000	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr7:104993000-104999200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr7:104993000-104999200	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr7:104993200-104998800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr7:104993400-104999000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr7:104993600-104999200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr7:104993600-105008800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr7:104994600-104999200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr7:104994600-104999600	Enhancers	Primary B cells from peripheral blood	blood
12	chr7:104994600-105004800	Weak transcription	Aorta	Aorta
13	chr7:104994800-104999400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr7:104995000-104999000	Weak transcription	Gastric	stomach
15	chr7:104995000-104999200	Weak transcription	Pancreas	Pancrea
16	chr7:104995000-104999400	Weak transcription	Right Ventricle	heart
17	chr7:104995000-105009000	Weak transcription	Fetal Muscle Trunk	muscle
18	chr7:104995200-104998800	Weak transcription	HepG2	liver
19	chr7:104995200-104999000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr7:104995200-104999000	Weak transcription	Lung	lung
21	chr7:104995200-104999200	Weak transcription	A549	lung
22	chr7:104995200-104999400	Weak transcription	Osteobl	bone
23	chr7:104995200-105005000	Weak transcription	Left Ventricle	heart
24	chr7:104995200-105006400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr7:104995200-105007800	Weak transcription	HSMM	muscle
26	chr7:104995200-105009000	Weak transcription	Right Atrium	heart
27	chr7:104995200-105028200	Weak transcription	Esophagus	oesophagus
28	chr7:104995400-105028000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr7:104995600-105027200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr7:104995800-104999200	Weak transcription	NHDF-Ad	bronchial
31	chr7:104995800-105007800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr7:104995800-105027200	Weak transcription	Primary T cells from cord blood	blood
33	chr7:104996000-104999400	Weak transcription	Small Intestine	intestine
34	chr7:104996000-105008800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr7:104996200-104999400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr7:104996400-104999200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr7:104996400-104999200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr7:104996400-104999400	Weak transcription	Psoas Muscle	Psoas
39	chr7:104996400-105005200	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr7:104996400-105017000	Weak transcription	Fetal Muscle Leg	muscle
41	chr7:104996600-104999000	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr7:104996600-104999000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr7:104996800-104998200	Weak transcription	K562	blood
44	chr7:104996800-104998800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr7:104996800-104998800	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr7:104996800-104999200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr7:104996800-105002600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr7:104996800-105005200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr7:104996800-105008800	Weak transcription	Primary T cells fromperipheralblood	blood
50	chr7:104996800-105008800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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