Variant report

Variant	rs4622999
Chromosome Location	chr4:10003395-10003396
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr4:10003234-10003405	HepG2	liver:	n/a	n/a
2	USF1	chr4:10003318-10003770	H1-hESC	embryonic stem cell:	n/a	chr4:10003573-10003584
3	USF1	chr4:10003292-10003792	HCT-116	colon:	n/a	chr4:10003573-10003584
4	USF1	chr4:10003379-10003785	ECC-1	luminal epithelium:	n/a	chr4:10003573-10003584

Variant related genes	Relation type
ENSG00000250413	TF binding region

Extended variants
information (count: 130 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:93)

rs_ID	r²[population]
rs10939620	0.86[EUR][1000 genomes]
rs10939655	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10939656	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10939665	0.88[CEU][hapmap];0.90[CHB][hapmap];0.91[JPT][hapmap]
rs10939669	0.88[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap]
rs1122141	0.81[CEU][hapmap];0.81[JPT][hapmap];0.83[YRI][hapmap];0.82[EUR][1000 genomes]
rs11722930	0.88[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap]
rs11723382	0.86[EUR][1000 genomes]
rs11723591	0.86[CEU][hapmap];0.84[EUR][1000 genomes]
rs11723970	0.84[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.81[YRI][hapmap];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11727199	0.88[CEU][hapmap];0.91[CHB][hapmap];0.87[JPT][hapmap]
rs11731110	0.88[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap]
rs11732054	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11736410	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11736479	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12499857	0.89[CEU][hapmap];0.95[CHB][hapmap];0.96[JPT][hapmap];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12500810	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12506122	0.81[CEU][hapmap]
rs12506364	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12506455	0.88[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap]
rs12507050	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12507330	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12508991	0.88[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap]
rs12647117	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13101785	0.88[CEU][hapmap];0.91[CHB][hapmap];0.87[JPT][hapmap]
rs13103690	0.91[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs13103879	0.89[CHB][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs13107466	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13110307	0.81[CEU][hapmap]
rs13113730	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13115193	0.88[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13115776	0.80[CEU][hapmap]
rs13121211	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13124563	0.81[EUR][1000 genomes]
rs13128214	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13129453	0.81[CEU][hapmap]
rs13133766	0.96[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13137343	0.88[CEU][hapmap];0.91[CHB][hapmap];0.87[JPT][hapmap]
rs13139055	0.80[CEU][hapmap]
rs13141233	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13149985	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17187075	0.96[CEU][hapmap];0.95[CHB][hapmap];0.96[JPT][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17246501	0.88[CEU][hapmap];0.85[CHB][hapmap];0.90[JPT][hapmap];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17246745	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17247314	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2240720	0.96[CEU][hapmap];0.87[CHB][hapmap];0.91[JPT][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2240721	0.96[CEU][hapmap];0.91[CHB][hapmap];0.82[JPT][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2240722	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2240724	0.92[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.87[EUR][1000 genomes]
rs2276961	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34501273	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34709913	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35099040	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35438220	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35866697	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35908990	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs36084205	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3733585	0.88[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap]
rs3733586	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3756236	0.96[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3756237	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3756238	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3775940	0.84[CEU][hapmap]
rs3796829	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3796832	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3796836	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3796842	0.96[CEU][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4235346	0.88[CEU][hapmap];0.81[CHB][hapmap];0.86[JPT][hapmap];0.86[EUR][1000 genomes]
rs4280729	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4292328	0.88[CEU][hapmap];0.81[CHB][hapmap];0.91[JPT][hapmap];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4447863	0.84[CEU][hapmap];0.86[JPT][hapmap]
rs4697698	0.88[CEU][hapmap];0.81[CHB][hapmap];0.86[JPT][hapmap];0.85[EUR][1000 genomes]
rs55959894	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62295971	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6449140	0.82[EUR][1000 genomes]
rs6449183	0.82[ASN][1000 genomes]
rs6449196	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6827754	0.88[CEU][hapmap]
rs6844329	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6845554	0.88[CEU][hapmap]
rs6849273	0.85[CEU][hapmap]
rs6849717	0.88[CEU][hapmap];0.82[CHB][hapmap];0.91[JPT][hapmap];0.86[EUR][1000 genomes]
rs6857693	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73227883	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7375599	0.88[CEU][hapmap];0.81[CHB][hapmap];0.90[JPT][hapmap];0.86[EUR][1000 genomes]
rs7375643	0.86[EUR][1000 genomes]
rs7678012	0.96[CEU][hapmap];0.95[CHB][hapmap];0.96[JPT][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7679916	0.88[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap]
rs7681699	0.87[ASN][1000 genomes]
rs882222	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs882223	0.88[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs998675	0.88[CEU][hapmap];0.81[CHB][hapmap];0.90[JPT][hapmap];0.86[EUR][1000 genomes]
rs998676	0.88[CEU][hapmap];0.82[CHB][hapmap];0.87[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:37 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533218	chr4:9371016-10252290	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	74 gene(s)	inside rSNPs	diseases
2	nsv530090	chr4:9383695-10165033	Enhancers Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	70 gene(s)	inside rSNPs	diseases
3	nsv1014216	chr4:9713612-10223836	Transcr. at gene 5' and 3' Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	53 gene(s)	inside rSNPs	diseases
4	nsv1010249	chr4:9716101-10086188	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers 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	15 gene(s)	inside rSNPs	diseases
5	nsv878672	chr4:9786732-10008305	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv878677	chr4:9797703-10008305	Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv878681	chr4:9802853-10397327	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	51 gene(s)	inside rSNPs	diseases
8	nsv997941	chr4:9805223-10493388	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	54 gene(s)	inside rSNPs	diseases
9	nsv1008649	chr4:9805223-10589802	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	56 gene(s)	inside rSNPs	diseases
10	nsv1000587	chr4:9805223-10610752	Flanking Active TSS Enhancers Genic enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	56 gene(s)	inside rSNPs	diseases
11	nsv537022	chr4:9805223-10610752	Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	56 gene(s)	inside rSNPs	diseases
12	nsv1003454	chr4:9805223-10710990	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	58 gene(s)	inside rSNPs	diseases
13	nsv537023	chr4:9805223-10710990	Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	58 gene(s)	inside rSNPs	diseases
14	nsv1004801	chr4:9814720-10674528	Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	57 gene(s)	inside rSNPs	diseases
15	nsv537024	chr4:9814720-10674528	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	57 gene(s)	inside rSNPs	diseases
16	nsv931483	chr4:9814721-10716463	Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	58 gene(s)	inside rSNPs	diseases
17	esv2763339	chr4:9858426-10056376	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription 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	6 gene(s)	inside rSNPs	diseases
18	nsv878686	chr4:9893403-10008305	Flanking Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
19	nsv537026	chr4:9903566-10262258	Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	48 gene(s)	inside rSNPs	diseases
20	nsv1009972	chr4:9903566-10710990	Genic enhancers Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	58 gene(s)	inside rSNPs	diseases
21	nsv537027	chr4:9903566-10710990	Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	58 gene(s)	inside rSNPs	diseases
22	esv2752052	chr4:9911872-10313111	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	51 gene(s)	inside rSNPs	diseases
23	nsv878687	chr4:9912101-10008305	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
24	nsv878688	chr4:9915850-10038112	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
25	nsv1010620	chr4:9937123-10686682	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	57 gene(s)	inside rSNPs	diseases
26	nsv878689	chr4:9943185-10008305	Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
27	nsv878690	chr4:9944650-10008305	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
28	nsv530280	chr4:9947818-10940041	Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	66 gene(s)	inside rSNPs	diseases
29	nsv532706	chr4:9948018-10451450	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases
30	nsv1013022	chr4:9961220-10230042	Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	46 gene(s)	inside rSNPs	diseases
31	nsv537028	chr4:9961220-10230042	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	46 gene(s)	inside rSNPs	diseases
32	nsv537029	chr4:9961220-10262258	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	47 gene(s)	inside rSNPs	diseases
33	nsv878691	chr4:9966477-10418078	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases
34	nsv1013487	chr4:9972011-10320963	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases
35	nsv829857	chr4:9982514-10155835	Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	43 gene(s)	inside rSNPs	diseases
36	nsv469621	chr4:9987670-10142287	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	43 gene(s)	inside rSNPs	diseases
37	nsv482719	chr4:9987670-10142287	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	43 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4622999	SLC2A9	cis	multi-tissue	Pritchard

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:9977800-10003600	Weak transcription	Fetal Muscle Leg	muscle
2	chr4:9980800-10007200	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr4:9987600-10008000	Weak transcription	Stomach Smooth Muscle	stomach
4	chr4:9991600-10007200	Weak transcription	Colon Smooth Muscle	Colon
5	chr4:9992400-10006800	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr4:9992600-10007200	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr4:9993000-10006800	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr4:9993200-10006800	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr4:9993600-10008000	Weak transcription	Left Ventricle	heart
10	chr4:9997600-10007800	Genic enhancers	HepG2	liver
11	chr4:9998400-10008200	Weak transcription	Esophagus	oesophagus
12	chr4:9998400-10008400	Weak transcription	Brain Angular Gyrus	brain
13	chr4:9998400-10020400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr4:9998600-10006800	Weak transcription	Lung	lung
15	chr4:9998800-10004400	Weak transcription	Fetal Intestine Large	intestine
16	chr4:9999000-10007400	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr4:9999000-10007400	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr4:9999200-10004400	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr4:10000000-10003600	Weak transcription	Pancreas	Pancrea
20	chr4:10000400-10004400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr4:10001400-10006000	Enhancers	HMEC	breast
22	chr4:10001400-10007400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr4:10001600-10003400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr4:10001600-10003400	Genic enhancers	NHEK	skin
25	chr4:10002400-10007400	Weak transcription	Primary B cells from peripheral blood	blood
26	chr4:10002600-10007800	Weak transcription	Aorta	Aorta
27	chr4:10002600-10007800	Enhancers	GM12878-XiMat	blood
28	chr4:10002800-10005000	Enhancers	Liver	Liver
29	chr4:10002800-10005000	Enhancers	Gastric	stomach
30	chr4:10002800-10006400	Enhancers	Stomach Mucosa	stomach
31	chr4:10003000-10004800	Enhancers	Small Intestine	intestine
32	chr4:10003000-10006200	Enhancers	Duodenum Mucosa	Duodenum
33	chr4:10003200-10003400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr4:10003200-10003400	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr4:10003200-10003800	ZNF genes & repeats	Fetal Intestine Small	intestine
36	chr4:10003200-10003800	Enhancers	Right Atrium	heart
37	chr4:10003200-10005200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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