Variant report

Variant	rs7613752
Chromosome Location	chr3:121179700-121179701
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 125 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:117)

rs_ID	r²[population]
rs10451895	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10934551	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11705939	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11706583	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11707252	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11707354	0.91[EUR][1000 genomes]
rs11708438	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11709378	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11709726	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11711667	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11713643	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11714746	0.81[ASN][1000 genomes]
rs11718918	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12233510	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12488196	0.81[ASN][1000 genomes]
rs12496163	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12632308	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12634017	0.98[ASN][1000 genomes]
rs12635218	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13059229	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13076688	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13077237	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13077305	0.81[ASN][1000 genomes]
rs13080007	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13081748	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13085365	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13086811	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13095841	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13097659	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13100579	0.81[ASN][1000 genomes]
rs1381057	0.84[ASN][1000 genomes]
rs1381058	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1381059	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1877968	0.89[EUR][1000 genomes]
rs1877969	0.89[EUR][1000 genomes]
rs1986730	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1987097	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1987098	0.84[ASN][1000 genomes]
rs2030531	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2126139	0.81[ASN][1000 genomes]
rs2126140	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2127024	0.84[ASN][1000 genomes]
rs2169300	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2169301	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2331921	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2331962	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28406368	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3218649	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35362700	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3732405	0.87[EUR][1000 genomes]
rs3732406	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3772122	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3772124	0.88[ASN][1000 genomes]
rs3806614	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3843345	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3845860	0.88[ASN][1000 genomes]
rs3845863	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3856578	0.83[AMR][1000 genomes]
rs3911713	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4107754	0.81[ASN][1000 genomes]
rs4346498	0.81[ASN][1000 genomes]
rs4555467	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4676680	0.89[EUR][1000 genomes]
rs4676722	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4676728	0.89[EUR][1000 genomes]
rs488636	0.81[ASN][1000 genomes]
rs502643	0.81[ASN][1000 genomes]
rs524026	0.95[ASN][1000 genomes]
rs541818	0.98[ASN][1000 genomes]
rs575913	0.88[ASN][1000 genomes]
rs61796944	0.83[ASN][1000 genomes]
rs61796946	0.82[ASN][1000 genomes]
rs6438625	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6438626	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6438630	0.84[ASN][1000 genomes]
rs6438631	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6438633	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66922316	0.88[ASN][1000 genomes]
rs6765310	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6769377	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6778684	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6782025	0.84[ASN][1000 genomes]
rs6782033	0.84[ASN][1000 genomes]
rs6784324	0.91[ASN][1000 genomes]
rs6787048	0.81[ASN][1000 genomes]
rs6793029	0.81[ASN][1000 genomes]
rs6793252	0.88[ASN][1000 genomes]
rs6796068	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6797376	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6798699	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6806191	0.84[ASN][1000 genomes]
rs693403	0.88[ASN][1000 genomes]
rs702019	0.81[ASN][1000 genomes]
rs7609781	0.84[ASN][1000 genomes]
rs7612018	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7614639	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7615529	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7617748	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7618570	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7621376	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7622867	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7622881	0.81[ASN][1000 genomes]
rs7622897	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7627978	0.84[ASN][1000 genomes]
rs7628081	0.81[ASN][1000 genomes]
rs7632907	0.81[ASN][1000 genomes]
rs7633930	0.81[ASN][1000 genomes]
rs7634611	0.84[ASN][1000 genomes]
rs7644928	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7645027	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7645050	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7645544	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7645849	0.84[ASN][1000 genomes]
rs7645869	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7650439	0.84[ASN][1000 genomes]
rs7650658	0.84[ASN][1000 genomes]
rs9849118	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998555	chr3:120700604-121348015	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
2	nsv521397	chr3:120970900-121192350	Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv591395	chr3:120970900-121501070	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	nsv591396	chr3:120970900-121557533	Strong transcription Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
5	nsv591397	chr3:120977383-121505882	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
6	nsv829702	chr3:121045793-121227975	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv591400	chr3:121070299-121339354	Strong transcription Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	nsv999335	chr3:121100283-121408766	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:121139200-121186000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr3:121141200-121186000	Weak transcription	NHEK	skin
3	chr3:121146000-121185800	Weak transcription	Fetal Stomach	stomach
4	chr3:121146200-121185600	Weak transcription	Fetal Muscle Trunk	muscle
5	chr3:121146400-121185800	Weak transcription	Fetal Intestine Large	intestine
6	chr3:121148400-121199600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr3:121149400-121181000	Weak transcription	HMEC	breast
8	chr3:121149400-121196600	Weak transcription	NH-A	brain
9	chr3:121149400-121199600	Weak transcription	Fetal Lung	lung
10	chr3:121151200-121185800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr3:121151200-121193400	Weak transcription	HSMM	muscle
12	chr3:121151200-121263800	Weak transcription	Duodenum Mucosa	Duodenum
13	chr3:121151400-121185600	Weak transcription	HUVEC	blood vessel
14	chr3:121168600-121184600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr3:121171600-121185400	Weak transcription	HepG2	liver
16	chr3:121171600-121186200	Weak transcription	Fetal Intestine Small	intestine
17	chr3:121175400-121185800	Weak transcription	NHDF-Ad	bronchial
18	chr3:121176200-121197000	Weak transcription	Fetal Kidney	kidney
19	chr3:121176400-121214800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr3:121176400-121224200	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr3:121176800-121186000	Weak transcription	Primary T cells from cord blood	blood
22	chr3:121176800-121187600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr3:121177200-121237000	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr3:121177400-121179800	Strong transcription	Hela-S3	cervix
25	chr3:121177400-121180000	Strong transcription	Primary neutrophils fromperipheralblood	blood
26	chr3:121177400-121204000	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr3:121177400-121205200	Strong transcription	HUES48 Cell Line	embryonic stem cell
28	chr3:121177800-121185800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr3:121177800-121197000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
30	chr3:121177800-121214800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr3:121178000-121184000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr3:121178000-121184400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr3:121178000-121184600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr3:121178000-121184800	Weak transcription	Primary hematopoietic stem cells	blood
35	chr3:121178000-121185800	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr3:121178000-121185800	Weak transcription	Fetal Muscle Leg	muscle
37	chr3:121178000-121185800	Weak transcription	K562	blood
38	chr3:121178000-121187600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr3:121178000-121196600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr3:121178000-121208600	Weak transcription	Fetal Heart	heart
41	chr3:121178200-121181000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr3:121178200-121184400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr3:121178200-121196600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr3:121178200-121263800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
45	chr3:121178400-121184800	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr3:121178400-121204800	Strong transcription	Dnd41	blood
47	chr3:121179000-121180800	Weak transcription	Thymus	Thymus
48	chr3:121179000-121186600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr3:121179200-121180800	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr3:121179200-121181000	Weak transcription	GM12878-XiMat	blood

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