Variant report

Variant	rs651413
Chromosome Location	chr1:78595381-78595382
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:78590091..78592317-chr1:78595079..78598058,2	K562	blood:
2	chr1:78594062..78596652-chr1:78598664..78601035,2	K562	blood:
3	chr1:78589424..78592317-chr1:78594735..78598058,3	K562	blood:
4	chr1:78593850..78595901-chr1:78596317..78598534,2	K562	blood:

Extended variants
information (count: 133 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:128)

rs_ID	r²[population]
rs11162418	0.88[ASN][1000 genomes]
rs11162420	0.88[ASN][1000 genomes]
rs11162421	0.88[ASN][1000 genomes]
rs11162422	0.88[ASN][1000 genomes]
rs11162423	0.86[ASN][1000 genomes]
rs11584032	0.88[ASN][1000 genomes]
rs12082228	0.87[ASN][1000 genomes]
rs12083265	0.88[ASN][1000 genomes]
rs12131414	0.88[ASN][1000 genomes]
rs12133075	0.89[ASN][1000 genomes]
rs12749252	0.88[ASN][1000 genomes]
rs1359043	0.88[ASN][1000 genomes]
rs1510245	0.82[EUR][1000 genomes]
rs1621088	0.88[ASN][1000 genomes]
rs1770306	0.87[ASN][1000 genomes]
rs2025610	0.88[ASN][1000 genomes]
rs2025611	0.88[ASN][1000 genomes]
rs2025612	0.90[ASN][1000 genomes]
rs2025613	0.89[ASN][1000 genomes]
rs2025614	0.90[ASN][1000 genomes]
rs2209472	0.88[ASN][1000 genomes]
rs2351907	0.88[ASN][1000 genomes]
rs2351909	0.88[ASN][1000 genomes]
rs2351910	0.88[ASN][1000 genomes]
rs2882796	0.86[ASN][1000 genomes]
rs2882797	0.88[ASN][1000 genomes]
rs2882798	0.88[ASN][1000 genomes]
rs4258183	0.88[ASN][1000 genomes]
rs4268312	0.88[ASN][1000 genomes]
rs4396076	0.89[ASN][1000 genomes]
rs4529663	0.88[ASN][1000 genomes]
rs4587522	0.88[ASN][1000 genomes]
rs4650313	0.88[ASN][1000 genomes]
rs4650315	0.88[ASN][1000 genomes]
rs478308	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs487316	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs488469	0.84[AMR][1000 genomes]
rs494496	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs501774	0.84[AMR][1000 genomes]
rs507045	0.82[EUR][1000 genomes]
rs513245	0.84[AMR][1000 genomes]
rs513977	0.84[AMR][1000 genomes]
rs521029	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs522952	0.82[EUR][1000 genomes]
rs523751	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs524757	0.82[AMR][1000 genomes]
rs526723	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs531841	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs534283	0.82[EUR][1000 genomes]
rs540742	0.87[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs554298	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs556170	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs557688	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs558643	0.84[AMR][1000 genomes]
rs561289	0.85[AMR][1000 genomes]
rs561300	0.80[EUR][1000 genomes]
rs566236	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs577978	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs580426	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs581926	0.85[ASN][1000 genomes]
rs582281	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs582395	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs584660	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs584868	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs585072	0.82[EUR][1000 genomes]
rs585100	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs58611517	0.88[ASN][1000 genomes]
rs586333	0.82[EUR][1000 genomes]
rs587433	0.87[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs593652	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs595384	0.82[EUR][1000 genomes]
rs596803	0.80[ASN][1000 genomes]
rs599293	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs599386	0.88[ASN][1000 genomes]
rs599417	0.82[EUR][1000 genomes]
rs599730	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs600781	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs605659	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs60588097	0.87[ASN][1000 genomes]
rs609359	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs609390	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs612486	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs614836	0.82[AMR][1000 genomes]
rs614963	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs616332	0.87[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs617195	0.87[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs61777350	0.85[ASN][1000 genomes]
rs618551	0.84[AMR][1000 genomes]
rs618593	0.84[AMR][1000 genomes]
rs621524	0.87[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs624223	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs624766	0.85[AMR][1000 genomes]
rs627493	0.87[ASN][1000 genomes]
rs627549	0.87[ASN][1000 genomes]
rs627654	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs627661	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs629947	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs633227	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs633769	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs637943	0.84[AMR][1000 genomes]
rs640134	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs642248	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6424716	0.88[ASN][1000 genomes]
rs6424717	0.88[ASN][1000 genomes]
rs644359	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs649502	0.87[ASN][1000 genomes]
rs650495	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs651897	0.82[EUR][1000 genomes]
rs656372	0.84[AMR][1000 genomes]
rs658212	0.84[AMR][1000 genomes]
rs661844	0.82[EUR][1000 genomes]
rs663254	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs668766	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs672391	0.85[AMR][1000 genomes]
rs674933	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs680143	0.85[ASN][1000 genomes]
rs684657	0.89[ASN][1000 genomes]
rs685393	0.82[EUR][1000 genomes]
rs687708	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs688570	0.81[ASN][1000 genomes]
rs699009	0.85[AMR][1000 genomes]
rs7367729	0.87[ASN][1000 genomes]
rs7367884	0.86[ASN][1000 genomes]
rs7417073	0.88[ASN][1000 genomes]
rs7515450	0.86[ASN][1000 genomes]
rs7518152	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7532752	0.88[ASN][1000 genomes]
rs7555504	0.88[ASN][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	esv3434340	chr1:78153780-78607103	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
2	nsv1013008	chr1:78463173-78958701	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv535012	chr1:78463173-78958701	Enhancers Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
4	nsv871835	chr1:78528803-79501129	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	esv1837401	chr1:78595297-78597844	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs651413	NEXN	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:78555400-78608600	Weak transcription	Pancreas	Pancrea
2	chr1:78567600-78607200	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr1:78580200-78598000	Weak transcription	Aorta	Aorta
4	chr1:78580200-78608600	Weak transcription	HepG2	liver
5	chr1:78584200-78630600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr1:78584400-78597200	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr1:78586400-78608600	Weak transcription	Colonic Mucosa	Colon
8	chr1:78587400-78607200	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr1:78588200-78597600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr1:78594400-78598600	Weak transcription	Duodenum Mucosa	Duodenum
11	chr1:78594600-78600000	Weak transcription	Fetal Intestine Small	intestine
12	chr1:78594600-78600400	Weak transcription	Fetal Intestine Large	intestine
13	chr1:78594600-78604600	Weak transcription	Liver	Liver

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