Variant report

Variant	rs6593763
Chromosome Location	chr1:146770971-146770972
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	chr1:146763180..146767980-chr1:146768468..146771849,4	MCF-7	breast:

Extended variants
information (count: 180 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:151)

rs_ID	r²[population]
rs1036852	1.00[YRI][hapmap]
rs1047140	1.00[YRI][hapmap]
rs10736837	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10751402	1.00[YRI][hapmap]
rs10751403	1.00[YRI][hapmap]
rs10751409	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10751410	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10793657	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10793658	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10793660	0.84[AFR][1000 genomes]
rs10793661	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10793662	1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs10793666	0.87[AFR][1000 genomes]
rs10900323	1.00[YRI][hapmap]
rs10900332	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10900333	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10900334	0.84[AFR][1000 genomes]
rs10900335	1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs10900336	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11239937	1.00[YRI][hapmap]
rs11239954	1.00[JPT][hapmap]
rs11239970	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11239971	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11800580	0.83[CEU][hapmap];1.00[JPT][hapmap]
rs11811023	0.82[JPT][hapmap]
rs12046626	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1442758	1.00[YRI][hapmap]
rs1442760	1.00[YRI][hapmap]
rs1561880	1.00[YRI][hapmap]
rs17159924	0.82[JPT][hapmap]
rs17160050	1.00[JPT][hapmap]
rs17160051	0.83[CEU][hapmap];1.00[JPT][hapmap]
rs17355398	0.82[JPT][hapmap]
rs17355509	0.82[JPT][hapmap]
rs17356184	0.84[CEU][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes]
rs17356219	0.83[CEU][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes]
rs17356233	0.84[CEU][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes]
rs17356240	0.84[CEU][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes]
rs17356492	0.90[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs17356735	0.82[JPT][hapmap]
rs17359629	0.82[JPT][hapmap]
rs17360443	0.83[CEU][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes]
rs1837983	1.00[YRI][hapmap]
rs1890036	0.84[AFR][1000 genomes]
rs1890040	0.84[EUR][1000 genomes]
rs1899484	1.00[YRI][hapmap]
rs1932980	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1932981	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1932982	0.87[AFR][1000 genomes]
rs1999820	0.84[CEU][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes]
rs2210954	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2354428	0.83[CEU][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes]
rs2883323	0.83[CEU][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2883324	0.84[CEU][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs3737849	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3737850	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3737853	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3737854	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3737855	0.83[CEU][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes]
rs3766519	0.82[JPT][hapmap]
rs3766520	0.82[JPT][hapmap]
rs3766522	0.82[JPT][hapmap]
rs41295831	0.84[AFR][1000 genomes]
rs4264042	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4284292	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4301678	0.84[CEU][hapmap];1.00[JPT][hapmap]
rs4326679	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4373796	1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4384284	0.82[AFR][1000 genomes]
rs4385773	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4453096	0.84[CEU][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4518968	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4568882	0.84[CEU][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4950304	0.82[JPT][hapmap]
rs4950306	0.82[JPT][hapmap]
rs4950308	0.82[JPT][hapmap]
rs4950315	0.83[CEU][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes]
rs4950316	0.84[CEU][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes]
rs4950318	0.84[CEU][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4950319	1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4950371	0.82[JPT][hapmap]
rs4950378	1.00[YRI][hapmap]
rs4950392	0.83[CEU][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes]
rs4950394	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs4950409	0.92[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6537	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6593738	1.00[YRI][hapmap]
rs6593756	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6593758	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6593760	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6593761	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6593762	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6593764	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6593765	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6593767	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6593768	0.87[AFR][1000 genomes]
rs6659630	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6660721	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6660985	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6665597	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6674987	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6677762	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6678317	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6680845	1.00[YRI][hapmap]
rs6686480	0.82[JPT][hapmap]
rs6692355	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6692453	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6692455	0.87[AFR][1000 genomes]
rs6697022	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6703892	0.83[CEU][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes]
rs72691041	0.85[AMR][1000 genomes]
rs72691054	0.92[AMR][1000 genomes]
rs72691090	0.90[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs72691093	0.90[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs72691095	0.92[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs72691097	0.92[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs72691098	0.92[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs72691102	0.92[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs72692904	0.92[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs72692905	0.92[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs72692907	0.92[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs72692914	0.92[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs72692917	0.92[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs72692942	0.87[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs72692963	0.87[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs72692965	0.87[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs72692968	0.87[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs72692971	0.87[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs72692973	0.87[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs72692975	0.87[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs72692979	0.92[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs72692980	0.92[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7515160	0.82[JPT][hapmap]
rs7517150	0.84[AFR][1000 genomes]
rs7517324	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7519022	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7523954	0.84[AFR][1000 genomes]
rs7525523	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7526996	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7528091	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7528700	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7535052	0.87[AFR][1000 genomes]
rs7541393	0.82[JPT][hapmap]
rs7542951	0.82[AMR][1000 genomes]
rs7544598	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7547279	1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs7554833	0.83[CEU][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7555817	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7555913	0.84[AFR][1000 genomes]
rs894472	1.00[YRI][hapmap]
rs972368	0.82[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv872251	chr1:146152553-146803630	Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
2	nsv872252	chr1:146471863-147398135	Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	112 gene(s)	inside rSNPs	diseases
3	nsv999546	chr1:146507577-147356574	Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
4	nsv535123	chr1:146507577-147356574	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
5	nsv492188	chr1:146507649-147381479	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS 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	110 gene(s)	inside rSNPs	diseases
6	nsv916754	chr1:146507711-147417736	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	113 gene(s)	inside rSNPs	diseases
7	nsv547673	chr1:146510112-147398135	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
8	nsv547674	chr1:146522722-147396797	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
9	nsv998341	chr1:146531446-147384720	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
10	nsv535124	chr1:146531446-147384720	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
11	nsv1003493	chr1:146531446-147389944	Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
12	nsv998209	chr1:146543722-147384720	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
13	nsv535126	chr1:146543722-147384720	Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
14	nsv872255	chr1:146550780-146969712	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
15	nsv872256	chr1:146556596-147410973	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
16	nsv1012331	chr1:146603479-147384720	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer 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	49 gene(s)	inside rSNPs	diseases
17	nsv535131	chr1:146603479-147384720	Genic enhancers Strong transcription Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
18	nsv1009943	chr1:146618929-146893851	Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
19	nsv535132	chr1:146618929-146893851	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
20	nsv437047	chr1:146643555-146841602	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
21	nsv1005809	chr1:146647822-146886419	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
22	nsv535134	chr1:146647822-146886419	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
23	nsv1004849	chr1:146661516-147286826	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer 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	44 gene(s)	inside rSNPs	diseases
24	nsv535135	chr1:146661516-147286826	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
25	nsv547676	chr1:146686228-146996047	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
26	esv2761654	chr1:146750270-146809156	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
27	nsv872260	chr1:146767353-146826675	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
28	nsv872261	chr1:146767353-146842342	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
29	nsv872262	chr1:146767353-146901677	Weak transcription Active TSS Strong transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6593763	RP11-337C18.8	cis	Thyroid	GTEx
rs6593763	CHD1L	cis	Whole Blood	GTEx

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:146761600-146771400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr1:146765000-146772600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr1:146765400-146771400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr1:146765600-146771600	Weak transcription	Colonic Mucosa	Colon
5	chr1:146766000-146777600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr1:146766600-146772000	Weak transcription	Fetal Brain Male	brain
7	chr1:146767200-146772000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
8	chr1:146767200-146772200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr1:146767400-146772200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:146767600-146772200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr1:146767800-146771000	ZNF genes & repeats	Liver	Liver
12	chr1:146767800-146771200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr1:146767800-146772200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
14	chr1:146767800-146772400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr1:146767800-146772400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
16	chr1:146767800-146774600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr1:146768200-146771000	ZNF genes & repeats	K562	blood
18	chr1:146768600-146771000	Weak transcription	Esophagus	oesophagus
19	chr1:146768600-146771000	Weak transcription	Lung	lung
20	chr1:146768600-146771200	Weak transcription	Placenta	Placenta
21	chr1:146768600-146771400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr1:146768600-146772200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr1:146768800-146771400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr1:146768800-146771600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr1:146768800-146772000	Weak transcription	Colon Smooth Muscle	Colon
26	chr1:146768800-146772000	Weak transcription	Right Ventricle	heart
27	chr1:146769000-146771200	Weak transcription	Fetal Intestine Large	intestine
28	chr1:146769000-146771600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr1:146769000-146771600	Weak transcription	Fetal Thymus	thymus
30	chr1:146769000-146771800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr1:146769000-146771800	Weak transcription	Fetal Lung	lung
32	chr1:146769000-146772200	Weak transcription	Brain Hippocampus Middle	brain
33	chr1:146769400-146772800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
34	chr1:146769600-146771200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr1:146769600-146771200	Weak transcription	Left Ventricle	heart
36	chr1:146769600-146771800	Weak transcription	NHDF-Ad	bronchial
37	chr1:146769600-146773400	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr1:146769800-146771200	Weak transcription	Pancreas	Pancrea
39	chr1:146769800-146771400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr1:146769800-146771600	Weak transcription	Brain Cingulate Gyrus	brain
41	chr1:146769800-146772600	Weak transcription	Brain Angular Gyrus	brain
42	chr1:146770000-146771000	Weak transcription	GM12878-XiMat	blood
43	chr1:146770000-146771000	Weak transcription	HMEC	breast
44	chr1:146770000-146771200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr1:146770000-146771200	Weak transcription	Gastric	stomach
46	chr1:146770000-146771200	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr1:146770000-146771200	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr1:146770000-146771400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr1:146770000-146771400	Weak transcription	Ovary	ovary
50	chr1:146770000-146771600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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