Variant report

Variant	rs2240722
Chromosome Location	chr4:10020757-10020758
allele	A/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	CTBP2	chr4:10020415-10021150	H1-hESC	embryonic stem cell:	n/a	n/a
2	CBX3	chr4:10020317-10021175	K562	blood:	n/a	n/a
3	SIN3A	chr4:10020352-10021137	H1-hESC	embryonic stem cell:	n/a	chr4:10020569-10020580
4	PAX5	chr4:10020402-10020839	GM12892	blood:	n/a	n/a
5	MAX	chr4:10020364-10020906	MCF-7	breast:	n/a	n/a
6	TBL1XR1	chr4:10020425-10020913	K562	blood:	n/a	n/a
7	RAD21	chr4:10020245-10020891	H1-hESC	embryonic stem cell:	n/a	chr4:10020565-10020577 chr4:10020340-10020352 chr4:10020505-10020524 chr4:10020563-10020582
8	RAD21	chr4:10020274-10020841	MCF-7	breast:	n/a	chr4:10020565-10020577 chr4:10020340-10020352 chr4:10020505-10020524 chr4:10020563-10020582
9	CTCF	chr4:10020323-10020802	IMR90	lung:	n/a	chr4:10020505-10020521 chr4:10020504-10020522 chr4:10020505-10020518 chr4:10020566-10020582 chr4:10020567-10020580 chr4:10020507-10020520 chr4:10020344-10020352 chr4:10020567-10020580 chr4:10020565-10020583 chr4:10020506-10020527
10	WRNIP1	chr4:10020472-10020842	GM12878	blood:	n/a	n/a
11	YY1	chr4:10020357-10020831	H1-hESC	embryonic stem cell:	n/a	chr4:10020563-10020577
12	RCOR1	chr4:10020374-10020873	K562	blood:	n/a	n/a
13	USF1	chr4:10020466-10020842	H1-hESC	embryonic stem cell:	n/a	chr4:10020562-10020578
14	POLR2A	chr4:10020549-10021008	SK-N-MC	brain:	n/a	n/a
15	MXI1	chr4:10020500-10020814	K562	blood:	n/a	n/a
16	RAD21	chr4:10020133-10021130	HCT-116	colon:	n/a	chr4:10020565-10020577 chr4:10020340-10020352 chr4:10020976-10020989 chr4:10020505-10020524 chr4:10020563-10020582
17	POLR2A	chr4:10020474-10021385	MCF10A-Er-Src	breast:	n/a	n/a
18	MAX	chr4:10020317-10021258	HCT-116	colon:	n/a	n/a
19	POLR2A	chr4:10020415-10020977	IMR90	lung:	n/a	n/a
20	CTCF	chr4:10020337-10020778	T-47D	breast:	n/a	chr4:10020505-10020521 chr4:10020504-10020522 chr4:10020505-10020518 chr4:10020566-10020582 chr4:10020567-10020580 chr4:10020507-10020520 chr4:10020344-10020352 chr4:10020567-10020580 chr4:10020565-10020583 chr4:10020506-10020527
21	MTA3	chr4:10020321-10021539	GM12878	blood:	n/a	n/a
22	PAX5	chr4:10020355-10021099	GM12878	blood:	n/a	n/a
23	POLR2A	chr4:10020620-10021150	HCT-116	colon:	n/a	n/a
24	MAX	chr4:10020382-10021056	GM12878	blood:	n/a	n/a
25	RAD21	chr4:10020328-10021058	IMR90	lung:	n/a	chr4:10020565-10020577 chr4:10020340-10020352 chr4:10020976-10020989 chr4:10020505-10020524 chr4:10020563-10020582
26	POLR2A	chr4:10020470-10021049	GM12878	blood:	n/a	n/a
27	RAD21	chr4:10020188-10021204	HCT-116	colon:	n/a	chr4:10020565-10020577 chr4:10020340-10020352 chr4:10020976-10020989 chr4:10020505-10020524 chr4:10020563-10020582
28	MAX	chr4:10020338-10021159	H1-hESC	embryonic stem cell:	n/a	n/a
29	CEBPB	chr4:10020342-10020893	GM12878	blood:	n/a	n/a
30	POLR2A	chr4:10020728-10020923	MCF-7	breast:	n/a	n/a
31	ATF2	chr4:10020411-10021134	GM12878	blood:	n/a	n/a
32	USF1	chr4:10020546-10020758	SK-N-SH_RA	brain:	n/a	chr4:10020562-10020578
33	NFIC	chr4:10020452-10021209	ECC-1	luminal epithelium:	n/a	n/a
34	FOXP2	chr4:10020362-10020871	PFSK-1	brain:	n/a	n/a
35	TAF1	chr4:10020497-10020865	H1-hESC	embryonic stem cell:	n/a	n/a
36	MAX	chr4:10020471-10021120	H1-hESC	embryonic stem cell:	n/a	n/a
37	MTA3	chr4:10020545-10021283	GM12878	blood:	n/a	n/a
38	E2F4	chr4:10020143-10021140	MCF10A-Er-Src	breast:	n/a	chr4:10020582-10020593
39	E2F6	chr4:10020436-10021042	K562	blood:	n/a	chr4:10020582-10020593
40	RAD21	chr4:10020328-10020844	ECC-1	luminal epithelium:	n/a	chr4:10020565-10020577 chr4:10020340-10020352 chr4:10020505-10020524 chr4:10020563-10020582
41	TBP	chr4:10020677-10020839	GM12878	blood:	n/a	n/a
42	POLR2A	chr4:10020512-10021011	GM12878	blood:	n/a	n/a
43	POLR2A	chr4:10020610-10020931	K562	blood:	n/a	n/a
44	RAD21	chr4:10020337-10020826	A549	lung:	n/a	chr4:10020565-10020577 chr4:10020340-10020352 chr4:10020505-10020524 chr4:10020563-10020582
45	HEY1	chr4:10020578-10020898	K562	blood:	n/a	n/a
46	TEAD4	chr4:10020372-10021064	K562	blood:	n/a	n/a
47	USF1	chr4:10020445-10020894	K562	blood:	n/a	chr4:10020562-10020578
48	E2F6	chr4:10020395-10021306	K562	blood:	n/a	chr4:10020582-10020593
49	MYC	chr4:10020365-10021203	K562	blood:	n/a	n/a
50	CTCF	chr4:10020318-10020776	ECC-1	luminal epithelium:	n/a	chr4:10020505-10020521 chr4:10020504-10020522 chr4:10020505-10020518 chr4:10020566-10020582 chr4:10020567-10020580 chr4:10020507-10020520 chr4:10020344-10020352 chr4:10020567-10020580 chr4:10020565-10020583 chr4:10020506-10020527

No.	Distal block	Cell Line	Cell type
1	chr4:10019361..10022054-chr4:10108000..10110178,2	K562	blood:
2	chr4:10020622..10022306-chr4:10022841..10025006,2	MCF-7	breast:
3	chr4:10019661..10022849-chr4:10023062..10025452,3	K562	blood:

Variant related genes	Relation type
SLC2A9	TF binding region
ENSG00000071127	Chromatin interaction
ENSG00000109667	Chromatin interaction

Extended variants
information (count: 103 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs10939655	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10939656	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10939665	0.83[AFR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10939669	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11722930	0.83[AFR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11727199	0.83[AFR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11731110	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11732054	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11734375	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11734786	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11736410	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11736479	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12499857	0.81[EUR][1000 genomes]
rs12500810	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12506364	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12506455	0.89[AFR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12506932	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12507050	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12507330	0.87[EUR][1000 genomes]
rs12508991	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12647117	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13101785	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13107466	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13113730	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13121211	0.87[EUR][1000 genomes]
rs13128214	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13133766	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13137074	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13137343	0.81[AFR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13137795	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13141233	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13145442	0.83[AFR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13149985	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13150928	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17187075	0.84[EUR][1000 genomes]
rs17246745	0.85[EUR][1000 genomes]
rs17247314	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2240720	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2240721	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2240724	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2276961	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34501273	0.86[EUR][1000 genomes]
rs34709913	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35099040	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35250962	0.81[AFR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35438220	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35501905	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35750364	0.81[AFR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35866697	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs36084205	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3733584	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3733585	0.83[AFR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3733586	0.86[EUR][1000 genomes]
rs3756236	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3756237	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3756238	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3796829	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3796832	0.87[EUR][1000 genomes]
rs3796836	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3796842	0.86[EUR][1000 genomes]
rs4280729	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4622999	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs55959894	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62293415	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6844329	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6857693	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7678012	0.85[EUR][1000 genomes]
rs7679916	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:35 , 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	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	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
23	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
24	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
25	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
26	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
27	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
28	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
29	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
30	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
31	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
32	nsv1008067	chr4:10004664-10262258	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	47 gene(s)	inside rSNPs	diseases
33	nsv537030	chr4:10004664-10262258	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS 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	47 gene(s)	inside rSNPs	diseases
34	nsv593691	chr4:10013173-10050141	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
35	nsv869057	chr4:10013411-10875454	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	65 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:10010000-10021200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr4:10017800-10020800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr4:10019400-10020800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr4:10019600-10022200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr4:10019800-10020800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr4:10020000-10020800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr4:10020000-10020800	Active TSS	Muscle Satellite Cultured Cells	--
8	chr4:10020000-10020800	Active TSS	NHLF	lung
9	chr4:10020000-10021000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr4:10020000-10021000	Active TSS	Brain Anterior Caudate	brain
11	chr4:10020000-10021200	Active TSS	Fetal Brain Female	brain
12	chr4:10020000-10021400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr4:10020000-10021600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
14	chr4:10020200-10020800	Active TSS	iPS-15b Cell Line	embryonic stem cell
15	chr4:10020200-10020800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
16	chr4:10020200-10020800	Active TSS	Primary T helper cells PMA-I stimulated	--
17	chr4:10020200-10020800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
18	chr4:10020200-10020800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr4:10020200-10020800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr4:10020200-10020800	Active TSS	Duodenum Mucosa	Duodenum
21	chr4:10020200-10020800	Enhancers	Fetal Heart	heart
22	chr4:10020200-10020800	Active TSS	Fetal Intestine Large	intestine
23	chr4:10020200-10020800	Active TSS	Fetal Stomach	stomach
24	chr4:10020200-10020800	Active TSS	NHEK	skin
25	chr4:10020200-10020800	Active TSS	Osteobl	bone
26	chr4:10020200-10021000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr4:10020200-10021000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
28	chr4:10020200-10021000	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
29	chr4:10020200-10021000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr4:10020200-10021000	Active TSS	Primary T killer memory cells from peripheral blood	blood
31	chr4:10020200-10021000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr4:10020200-10021000	Active TSS	Aorta	Aorta
33	chr4:10020200-10021000	Active TSS	Brain Angular Gyrus	brain
34	chr4:10020200-10021000	Active TSS	Brain Cingulate Gyrus	brain
35	chr4:10020200-10021000	Active TSS	Brain Hippocampus Middle	brain
36	chr4:10020200-10021000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
37	chr4:10020200-10021000	Active TSS	Brain Substantia Nigra	brain
38	chr4:10020200-10021000	Active TSS	Duodenum Smooth Muscle	Duodenum
39	chr4:10020200-10021000	Active TSS	Left Ventricle	heart
40	chr4:10020200-10021000	Active TSS	Rectal Mucosa Donor 29	rectum
41	chr4:10020200-10021000	Active TSS	Rectal Mucosa Donor 31	rectum
42	chr4:10020200-10021000	Active TSS	Rectal Smooth Muscle	rectum
43	chr4:10020200-10021000	Active TSS	Right Atrium	heart
44	chr4:10020200-10021000	Active TSS	Thymus	Thymus
45	chr4:10020200-10021000	Active TSS	HSMM	muscle
46	chr4:10020200-10021200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr4:10020200-10021200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr4:10020200-10021200	Active TSS	Brain Inferior Temporal Lobe	brain
49	chr4:10020200-10021200	Active TSS	Colon Smooth Muscle	Colon
50	chr4:10020200-10021200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links