Variant report

Variant	rs2199892
Chromosome Location	chr3:43533587-43533588
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 109 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:108)

rs_ID	r²[population]
rs1021049	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1026887	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1038202	0.93[ASN][1000 genomes]
rs10440111	0.81[ASN][1000 genomes]
rs11130006	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11706123	0.94[ASN][1000 genomes]
rs11706130	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11708097	0.94[ASN][1000 genomes]
rs11709165	0.96[ASN][1000 genomes]
rs11710079	0.94[ASN][1000 genomes]
rs11710107	0.94[ASN][1000 genomes]
rs11710486	0.85[ASN][1000 genomes]
rs11710955	0.94[ASN][1000 genomes]
rs11711758	0.89[ASN][1000 genomes]
rs11712894	0.96[ASN][1000 genomes]
rs11713382	0.94[ASN][1000 genomes]
rs11714015	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11716569	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11717449	0.94[ASN][1000 genomes]
rs11718482	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12152260	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12374079	0.92[ASN][1000 genomes]
rs13061553	0.96[ASN][1000 genomes]
rs13072613	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13075520	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13079636	0.87[ASN][1000 genomes]
rs13084604	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13086999	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13092838	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13097209	0.94[ASN][1000 genomes]
rs13098202	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1384434	0.91[ASN][1000 genomes]
rs1471643	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1471644	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1482648	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1482649	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1482650	0.94[ASN][1000 genomes]
rs1482651	0.83[ASN][1000 genomes]
rs1482652	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1482653	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1506616	0.89[ASN][1000 genomes]
rs17030517	0.83[ASN][1000 genomes]
rs17407745	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17407870	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17407912	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17408925	0.96[ASN][1000 genomes]
rs2010778	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2054552	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2054553	0.92[ASN][1000 genomes]
rs2054554	0.92[ASN][1000 genomes]
rs2086653	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2127725	0.83[ASN][1000 genomes]
rs2170219	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2219902	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2372433	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2372436	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2372487	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2888312	0.94[ASN][1000 genomes]
rs34279519	1.00[ASN][1000 genomes]
rs34548104	0.94[ASN][1000 genomes]
rs34898315	0.94[ASN][1000 genomes]
rs34919938	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35015014	0.94[ASN][1000 genomes]
rs35133889	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35323779	0.89[ASN][1000 genomes]
rs35418463	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3755602	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3772165	0.92[ASN][1000 genomes]
rs3821381	0.92[ASN][1000 genomes]
rs3902207	0.96[ASN][1000 genomes]
rs4564953	0.94[ASN][1000 genomes]
rs4682690	0.92[ASN][1000 genomes]
rs4682691	0.92[ASN][1000 genomes]
rs4682892	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4682897	0.83[ASN][1000 genomes]
rs4682898	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6441775	0.87[ASN][1000 genomes]
rs6441776	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6441779	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6441780	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6441781	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6441785	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6441786	0.83[ASN][1000 genomes]
rs6441787	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs66842319	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67032102	0.94[ASN][1000 genomes]
rs6763321	0.89[ASN][1000 genomes]
rs6767983	0.94[ASN][1000 genomes]
rs6768557	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6775337	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6779864	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6781290	0.96[ASN][1000 genomes]
rs6782442	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6797855	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6806339	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6809134	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7428158	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7616708	0.92[ASN][1000 genomes]
rs7621271	0.92[ASN][1000 genomes]
rs7648082	0.84[ASN][1000 genomes]
rs7653738	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9311341	0.92[ASN][1000 genomes]
rs9682975	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9829081	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9839558	0.96[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9851894	0.87[ASN][1000 genomes]
rs9863479	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9878330	0.92[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	nsv428738	chr3:43491435-43651168	Strong transcription Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:43473400-43541400	Weak transcription	Aorta	Aorta
2	chr3:43497000-43539400	Weak transcription	HSMM	muscle
3	chr3:43504800-43553400	Weak transcription	Duodenum Mucosa	Duodenum
4	chr3:43519600-43539000	Weak transcription	Right Atrium	heart
5	chr3:43519800-43538200	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr3:43522200-43538200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr3:43522200-43538800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr3:43522400-43539600	Weak transcription	HSMMtube	muscle
9	chr3:43524200-43539600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr3:43526000-43560800	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr3:43526400-43538400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr3:43527000-43539000	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr3:43527200-43560200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr3:43531200-43539000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr3:43531200-43542600	Weak transcription	Psoas Muscle	Psoas
16	chr3:43532400-43540800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr3:43532600-43538200	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr3:43532600-43539000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr3:43532600-43540800	Weak transcription	Spleen	Spleen
20	chr3:43532800-43539000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr3:43533000-43533600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr3:43533000-43533600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
23	chr3:43533000-43533600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
24	chr3:43533000-43533600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr3:43533000-43533600	Enhancers	HepG2	liver
26	chr3:43533000-43533800	Enhancers	Primary T cells from cord blood	blood
27	chr3:43533000-43533800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
28	chr3:43533000-43533800	Enhancers	Primary T helper cells PMA-I stimulated	--
29	chr3:43533000-43533800	Enhancers	Primary T helper cells fromperipheralblood	blood
30	chr3:43533000-43538000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr3:43533000-43553000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr3:43533200-43538800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr3:43533200-43544800	Weak transcription	K562	blood

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