Variant report

Variant	rs4950316
Chromosome Location	chr1:146745375-146745376
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:146745161..146746194-chr1:146861354..146862246,9	MCF-7	breast:
2	chr1:146745304..146745819-chr1:146965012..146965946,2	MCF-7	breast:
3	chr1:146736702..146738250-chr1:146744524..146746256,2	K562	blood:
4	chr1:146744838..146745980-chr1:146963613..146964616,7	MCF-7	breast:
5	chr1:146745162..146746051-chr1:147113878..147114401,2	K562	blood:
6	chr1:146745110..146745920-chr1:146966509..146967800,5	MCF-7	breast:
7	chr1:146745300..146745891-chr1:147113890..147114450,2	MCF-7	breast:
8	chr1:146745103..146745868-chr1:146861342..146862193,4	MCF-7	breast:
9	chr1:146739134..146740956-chr1:146745000..146747001,2	MCF-7	breast:
10	chr1:146744019..146745756-chr1:146860547..146863397,2	MCF-7	breast:

No data

Extended variants
information (count: 163 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:138)

rs_ID	r²[population]
rs10736837	0.92[AMR][1000 genomes]
rs10751409	1.00[JPT][hapmap];0.92[AMR][1000 genomes]
rs10751410	0.92[AMR][1000 genomes]
rs10793657	0.81[CEU][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes]
rs10793658	0.82[CEU][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes]
rs10793661	0.81[CEU][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes]
rs10900332	0.81[CEU][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes]
rs10900333	0.81[CEU][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes]
rs10900336	0.92[AMR][1000 genomes]
rs11239954	0.90[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11239958	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11239970	0.90[AMR][1000 genomes]
rs11239971	0.92[AMR][1000 genomes]
rs11800580	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11811023	0.86[JPT][hapmap]
rs12046626	0.82[CEU][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes]
rs12046706	0.81[EUR][1000 genomes]
rs12060046	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17159914	0.95[CEU][hapmap];0.81[EUR][1000 genomes]
rs17159924	0.95[CEU][hapmap];0.86[JPT][hapmap];0.82[EUR][1000 genomes]
rs17160050	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17160051	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17355398	0.86[JPT][hapmap]
rs17355509	0.84[CEU][hapmap];0.86[JPT][hapmap]
rs17356184	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17356219	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17356233	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17356240	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17356492	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17359629	0.84[CEU][hapmap];0.86[JPT][hapmap]
rs17360443	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1932977	0.89[CEU][hapmap];0.84[EUR][1000 genomes]
rs1932980	0.90[AMR][1000 genomes]
rs1932981	0.92[AMR][1000 genomes]
rs1999820	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2210954	0.92[AMR][1000 genomes]
rs2354428	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28381210	0.82[EUR][1000 genomes]
rs2883323	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2883324	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2883434	0.80[EUR][1000 genomes]
rs3737849	0.90[AMR][1000 genomes]
rs3737850	0.90[AMR][1000 genomes]
rs3737853	0.82[CEU][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes]
rs3737854	0.92[AMR][1000 genomes]
rs3737855	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3766519	0.95[CEU][hapmap];0.86[JPT][hapmap];0.85[EUR][1000 genomes]
rs3766520	0.95[CEU][hapmap];0.86[JPT][hapmap];1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs3766522	0.89[CEU][hapmap];0.86[JPT][hapmap]
rs4264042	0.92[AMR][1000 genomes]
rs4284292	0.92[AMR][1000 genomes]
rs4301678	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4326679	0.92[AMR][1000 genomes]
rs4373796	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4385773	0.92[AMR][1000 genomes]
rs4453096	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4518968	0.92[AMR][1000 genomes]
rs4568882	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4593887	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4950304	0.86[JPT][hapmap]
rs4950306	0.86[JPT][hapmap]
rs4950308	0.85[CEU][hapmap];0.86[JPT][hapmap]
rs4950313	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4950315	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4950318	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4950319	0.85[CEU][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4950371	0.82[CEU][hapmap];0.86[JPT][hapmap]
rs4950379	1.00[AFR][1000 genomes]
rs4950382	0.95[CEU][hapmap];0.81[EUR][1000 genomes]
rs4950384	0.82[EUR][1000 genomes]
rs4950389	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4950392	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4950409	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4950415	1.00[AFR][1000 genomes]
rs56080828	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs6537	0.81[CEU][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes]
rs6593756	0.81[CEU][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes]
rs6593758	0.92[AMR][1000 genomes]
rs6593760	0.92[AMR][1000 genomes]
rs6593761	0.86[AMR][1000 genomes]
rs6593762	0.90[AMR][1000 genomes]
rs6593763	0.92[AMR][1000 genomes]
rs6593764	0.92[AMR][1000 genomes]
rs6593765	0.92[AMR][1000 genomes]
rs6593767	0.92[AMR][1000 genomes]
rs6659630	0.92[AMR][1000 genomes]
rs6660985	0.92[AMR][1000 genomes]
rs6665597	0.81[CEU][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes]
rs6674987	0.92[AMR][1000 genomes]
rs6677762	0.92[AMR][1000 genomes]
rs6678317	0.82[AMR][1000 genomes]
rs6686480	0.84[CEU][hapmap];0.86[JPT][hapmap]
rs6692355	0.92[AMR][1000 genomes]
rs6692453	0.92[AMR][1000 genomes]
rs6697022	0.82[CEU][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes]
rs6703892	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72691004	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72691012	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72691016	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72691025	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72691032	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72691033	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72691041	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72691054	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72691090	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72691093	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72691095	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72691097	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72691098	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72691102	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72692904	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72692905	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72692907	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72692914	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72692917	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72692942	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72692963	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72692965	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72692968	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72692971	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72692973	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72692975	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72692979	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72692980	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72708536	0.82[EUR][1000 genomes]
rs7515160	0.85[CEU][hapmap];0.86[JPT][hapmap]
rs7517324	0.81[CEU][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes]
rs7519022	0.92[AMR][1000 genomes]
rs7526996	1.00[JPT][hapmap];0.92[AMR][1000 genomes]
rs7528091	0.87[AMR][1000 genomes]
rs7528700	0.92[AMR][1000 genomes]
rs7541393	0.84[CEU][hapmap];0.86[JPT][hapmap]
rs7542951	0.90[AMR][1000 genomes]
rs7544598	0.90[AMR][1000 genomes]
rs7554833	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7555817	0.92[AMR][1000 genomes]
rs972368	0.84[CEU][hapmap];0.86[JPT][hapmap]
rs976621	0.86[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:25 , 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

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4950316	RP11-337C18.8	cis	Thyroid	GTEx
rs4950316	CHD1L	cis	Whole Blood	GTEx
rs4950316	CHD1L	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:146715600-146749400	Weak transcription	Colonic Mucosa	Colon
2	chr1:146715800-146756800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr1:146716800-146748600	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr1:146717200-146751000	Weak transcription	Gastric	stomach
5	chr1:146719400-146757600	Weak transcription	Stomach Mucosa	stomach
6	chr1:146719600-146747600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:146719600-146747800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr1:146719600-146748000	Weak transcription	Small Intestine	intestine
9	chr1:146722600-146749400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr1:146722800-146769800	Strong transcription	Dnd41	blood
11	chr1:146723800-146761200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr1:146723800-146763200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
13	chr1:146724200-146769800	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr1:146726600-146769600	Strong transcription	Primary T helper cells PMA-I stimulated	--
15	chr1:146727000-146770000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr1:146727200-146754200	Strong transcription	Fetal Intestine Large	intestine
17	chr1:146727200-146762200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr1:146727200-146767800	Strong transcription	HUES64 Cell Line	embryonic stem cell
19	chr1:146727200-146770200	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr1:146727400-146767800	Strong transcription	HUES6 Cell Line	embryonic stem cell
21	chr1:146727400-146767800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
22	chr1:146727800-146745400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr1:146728200-146770800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr1:146729400-146769800	Strong transcription	Primary T cells from cord blood	blood
25	chr1:146730200-146755800	Weak transcription	Fetal Heart	heart
26	chr1:146732200-146747000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr1:146732800-146747000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr1:146732800-146750600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr1:146733000-146770600	Strong transcription	HepG2	liver
30	chr1:146733200-146746800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr1:146733200-146747000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr1:146733200-146762600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr1:146733600-146763000	Strong transcription	Primary B cells from cord blood	blood
34	chr1:146735400-146752000	Strong transcription	GM12878-XiMat	blood
35	chr1:146735600-146768600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
36	chr1:146735800-146769000	Strong transcription	Fetal Thymus	thymus
37	chr1:146736400-146770200	Strong transcription	Rectal Mucosa Donor 29	rectum
38	chr1:146737000-146748600	Weak transcription	Psoas Muscle	Psoas
39	chr1:146737600-146745800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr1:146738200-146747600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr1:146740400-146746600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr1:146740800-146746800	Weak transcription	Fetal Lung	lung
43	chr1:146740800-146747000	Weak transcription	Fetal Brain Female	brain
44	chr1:146740800-146747600	Weak transcription	Esophagus	oesophagus
45	chr1:146740800-146747600	Weak transcription	Right Ventricle	heart
46	chr1:146740800-146751200	Weak transcription	Pancreas	Pancrea
47	chr1:146740800-146757000	Weak transcription	Brain Germinal Matrix	brain
48	chr1:146741000-146745400	Weak transcription	Adipose Nuclei	Adipose
49	chr1:146741000-146745600	Weak transcription	Brain Cingulate Gyrus	brain
50	chr1:146741000-146746600	Weak transcription	Rectal Mucosa Donor 31	rectum

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