Variant report

Variant	rs1793313
Chromosome Location	chr1:174794816-174794817
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:174787877..174789729-chr1:174792923..174795229,2	K562	blood:
2	chr1:174793359..174795191-chr1:174840553..174843195,2	MCF-7	breast:

Extended variants
information (count: 191 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:150)

rs_ID	r²[population]
rs1012182	0.90[ASN][1000 genomes]
rs10798324	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10798327	0.87[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs10912820	0.85[EUR][1000 genomes]
rs10912823	0.88[EUR][1000 genomes]
rs10912843	0.87[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs10912853	0.85[ASN][1000 genomes]
rs10912854	0.87[EUR][1000 genomes]
rs10912855	0.85[ASN][1000 genomes]
rs11800350	0.90[ASN][1000 genomes]
rs11806066	0.84[ASN][1000 genomes]
rs11809803	0.90[ASN][1000 genomes]
rs11810508	0.90[ASN][1000 genomes]
rs12063093	0.90[ASN][1000 genomes]
rs12067463	0.88[EUR][1000 genomes]
rs12078839	0.90[ASN][1000 genomes]
rs12082139	0.86[EUR][1000 genomes]
rs12094876	0.85[ASN][1000 genomes]
rs1231826	0.89[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs1231827	0.89[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs1231829	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1329281	0.85[ASN][1000 genomes]
rs1613634	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1618207	0.85[ASN][1000 genomes]
rs1618408	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1622802	0.85[ASN][1000 genomes]
rs162815	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1653630	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1653634	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1653636	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs16847624	0.80[ASN][1000 genomes]
rs17302033	0.85[ASN][1000 genomes]
rs1754350	0.86[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs1754352	0.90[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs1754353	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1754354	0.96[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1754360	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1793292	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1793294	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1793295	0.80[ASN][1000 genomes]
rs1793298	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1793305	0.89[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs1793307	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1793310	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1793315	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1793316	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1793318	0.95[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1793320	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1813136	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1883139	0.85[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs1894198	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1894199	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1894201	0.89[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs1894680	0.85[ASN][1000 genomes]
rs1923818	0.85[ASN][1000 genomes]
rs2003378	0.90[ASN][1000 genomes]
rs2156853	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2156854	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2163628	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2183202	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2568096	0.85[ASN][1000 genomes]
rs2568098	0.85[ASN][1000 genomes]
rs2760057	0.80[ASN][1000 genomes]
rs2860725	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2981892	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2981893	0.89[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs2981896	0.89[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs2987872	0.89[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs2987873	0.89[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs2987875	0.90[ASN][1000 genomes]
rs2987876	0.88[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs2987880	0.85[ASN][1000 genomes]
rs3117838	0.85[ASN][1000 genomes]
rs3118982	0.85[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs3118986	0.90[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs3118987	0.85[ASN][1000 genomes]
rs3118990	0.95[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs332763	0.94[EUR][1000 genomes]
rs332764	0.94[EUR][1000 genomes]
rs332772	0.94[EUR][1000 genomes]
rs332784	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs332798	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs332800	0.85[ASN][1000 genomes]
rs332801	0.85[ASN][1000 genomes]
rs333423	0.92[EUR][1000 genomes]
rs333432	0.85[ASN][1000 genomes]
rs333436	0.85[ASN][1000 genomes]
rs333437	0.92[EUR][1000 genomes]
rs333453	0.88[EUR][1000 genomes]
rs333471	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs392307	0.85[ASN][1000 genomes]
rs459078	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs464635	0.87[ASN][1000 genomes]
rs4651205	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4651231	0.85[ASN][1000 genomes]
rs4651235	0.90[ASN][1000 genomes]
rs4652797	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55793234	0.85[ASN][1000 genomes]
rs55844798	0.85[ASN][1000 genomes]
rs56292878	0.86[EUR][1000 genomes]
rs57289077	0.85[ASN][1000 genomes]
rs58030712	0.85[ASN][1000 genomes]
rs60482554	0.85[ASN][1000 genomes]
rs60811893	0.85[ASN][1000 genomes]
rs6425298	0.81[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs6425300	0.81[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs6425301	0.87[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs6425303	0.86[EUR][1000 genomes]
rs6425306	0.85[ASN][1000 genomes]
rs6671196	0.85[ASN][1000 genomes]
rs6671782	0.85[ASN][1000 genomes]
rs6675528	0.87[EUR][1000 genomes]
rs6677874	0.88[EUR][1000 genomes]
rs66836419	0.85[ASN][1000 genomes]
rs6684229	0.85[ASN][1000 genomes]
rs6684515	0.85[ASN][1000 genomes]
rs6686872	0.90[ASN][1000 genomes]
rs6687616	0.90[ASN][1000 genomes]
rs6690754	0.84[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs6693979	0.83[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs6696465	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6700953	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs67054007	0.80[ASN][1000 genomes]
rs67133776	0.81[ASN][1000 genomes]
rs67203477	0.85[ASN][1000 genomes]
rs67903803	0.81[ASN][1000 genomes]
rs72715292	0.85[ASN][1000 genomes]
rs72715294	0.85[ASN][1000 genomes]
rs72715300	0.85[ASN][1000 genomes]
rs72717608	0.85[ASN][1000 genomes]
rs72717616	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72717617	0.90[ASN][1000 genomes]
rs72717618	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72717630	0.90[ASN][1000 genomes]
rs72717637	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72717649	0.87[ASN][1000 genomes]
rs72717650	0.90[ASN][1000 genomes]
rs72717653	0.85[ASN][1000 genomes]
rs72717661	0.85[ASN][1000 genomes]
rs72717670	0.80[ASN][1000 genomes]
rs7514183	0.87[EUR][1000 genomes]
rs7516410	0.85[ASN][1000 genomes]
rs7521109	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7543147	0.90[ASN][1000 genomes]
rs7547658	0.85[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs913686	0.85[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs913687	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs913688	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9425787	0.85[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs989424	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:41 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014637	chr1:174265631-174826765	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv535208	chr1:174265631-174826765	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	esv2755184	chr1:174388343-174970343	Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
4	nsv548198	chr1:174731596-174800872	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	esv1824383	chr1:174764839-174801748	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	esv1844306	chr1:174764839-174801748	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	esv1819206	chr1:174764839-174802731	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	esv1844208	chr1:174764839-174818547	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
9	esv1847553	chr1:174764839-174818547	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
10	esv1820274	chr1:174782523-174802731	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
11	nsv548199	chr1:174793691-174800435	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
12	nsv548200	chr1:174793691-174800585	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
13	nsv548201	chr1:174793691-174800872	Enhancers Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
14	nsv548202	chr1:174793691-174801639	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
15	nsv548203	chr1:174793691-174801748	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
16	esv1824588	chr1:174794108-174801953	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
17	esv1848074	chr1:174794108-174801953	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
18	nsv548204	chr1:174794144-174800435	Genic enhancers Weak transcription Enhancers Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
19	nsv548205	chr1:174794144-174801085	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
20	nsv516953	chr1:174794144-174801639	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
21	nsv548206	chr1:174794144-174801639	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
22	nsv548207	chr1:174794144-174801748	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
23	esv1816716	chr1:174794144-174802731	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
24	esv1819417	chr1:174794144-174802731	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
25	esv1819946	chr1:174794144-174802731	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
26	esv1823683	chr1:174794144-174802731	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
27	esv1844209	chr1:174794144-174802731	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
28	esv1845045	chr1:174794144-174802731	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
29	esv1848812	chr1:174794144-174802731	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
30	esv1851197	chr1:174794144-174802731	Enhancers Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
31	nsv437280	chr1:174794144-174805122	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
32	nsv437291	chr1:174794144-174805122	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
33	nsv437302	chr1:174794144-174805122	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
34	esv1815488	chr1:174794144-174818547	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
35	esv1821003	chr1:174794144-174818547	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
36	esv1844568	chr1:174794144-174818547	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
37	nsv872556	chr1:174794420-174819336	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
38	esv3453124	chr1:174794529-174801327	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
39	esv3453125	chr1:174794529-174801327	Genic enhancers Enhancers Weak transcription Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
40	nsv8547	chr1:174794541-174801956	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
41	nsv947451	chr1:174794664-174801642	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1793313	RABGAP1L	cis	Esophagus Muscularis	GTEx

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:174772200-174796600	Weak transcription	Primary T helper cells PMA-I stimulated	--
2	chr1:174777600-174799800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:174782000-174800800	Weak transcription	Duodenum Mucosa	Duodenum
4	chr1:174782200-174813000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr1:174782600-174799200	Weak transcription	Liver	Liver
6	chr1:174784400-174797200	Weak transcription	Esophagus	oesophagus
7	chr1:174784800-174806600	Weak transcription	HSMMtube	muscle
8	chr1:174785600-174796000	Weak transcription	Primary B cells from cord blood	blood
9	chr1:174785600-174796800	Weak transcription	Primary B cells from peripheral blood	blood
10	chr1:174786800-174798200	Weak transcription	Left Ventricle	heart
11	chr1:174789000-174797400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr1:174792600-174801600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr1:174794000-174795800	Enhancers	Thymus	Thymus
14	chr1:174794200-174796400	Enhancers	Fetal Thymus	thymus
15	chr1:174794400-174797400	Weak transcription	NHEK	skin
16	chr1:174794800-174795600	Strong transcription	Fetal Intestine Small	intestine

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