Variant report

Variant	rs532701
Chromosome Location	chr9:272270-272271
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:70)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:70 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TBL1XR1	chr9:271793-273213	K562	blood:	n/a	n/a
2	HEY1	chr9:272265-272635	K562	blood:	n/a	n/a
3	MYC	chr9:272163-272528	K562	blood:	n/a	n/a
4	HEY1	chr9:272254-272566	K562	blood:	n/a	n/a
5	ARID3A	chr9:272095-272522	K562	blood:	n/a	n/a
6	MAX	chr9:272252-272551	K562	blood:	n/a	n/a
7	UBTF	chr9:272159-272557	K562	blood:	n/a	n/a
8	EP300	chr9:272134-272512	GM12878	blood:	n/a	n/a
9	EP300	chr9:272025-273608	K562	blood:	n/a	chr9:272862-272876 chr9:272707-272716
10	FOS	chr9:272186-272386	MCF10A-Er-Src	breast:	n/a	n/a
11	TAL1	chr9:272128-272538	K562	blood:	n/a	n/a
12	CEBPD	chr9:272066-272624	K562	blood:	n/a	n/a
13	JUN	chr9:272133-272519	K562	blood:	n/a	n/a
14	MAX	chr9:272192-272569	K562	blood:	n/a	n/a
15	RCOR1	chr9:272132-273092	K562	blood:	n/a	n/a
16	MAFK	chr9:272137-272501	K562	blood:	n/a	n/a
17	POLR2A	chr9:272119-272570	K562	blood:	n/a	n/a
18	MAX	chr9:272147-272557	K562	blood:	n/a	n/a
19	CCNT2	chr9:272149-272834	K562	blood:	n/a	n/a
20	USF1	chr9:272257-272500	K562	blood:	n/a	n/a
21	HCFC1	chr9:272142-272507	K562	blood:	n/a	n/a
22	TBP	chr9:272109-272558	K562	blood:	n/a	n/a
23	ZMIZ1	chr9:272137-272598	K562	blood:	n/a	n/a
24	MYC	chr9:272147-273213	K562	blood:	n/a	n/a
25	TAF1	chr9:272164-272528	K562	blood:	n/a	n/a
26	GTF2B	chr9:272220-272496	K562	blood:	n/a	n/a
27	PML	chr9:272108-272544	K562	blood:	n/a	n/a
28	POLR2A	chr9:272082-272549	K562	blood:	n/a	n/a
29	KAP1	chr9:271932-273434	K562	blood:	n/a	n/a
30	POLR2A	chr9:272012-272322	K562	blood:	n/a	n/a
31	POLR2A	chr9:272133-273227	K562	blood:	n/a	n/a
32	ATF3	chr9:272081-272576	K562	blood:	n/a	n/a
33	IRF1	chr9:272158-272565	K562	blood:	n/a	n/a
34	TEAD4	chr9:272087-272572	K562	blood:	n/a	n/a
35	CEBPB	chr9:272157-272436	K562	blood:	n/a	n/a
36	POLR2A	chr9:272129-273281	K562	blood:	n/a	n/a
37	MYC	chr9:272133-273254	NB4	blood:	n/a	n/a
38	CREB1	chr9:272021-272645	K562	blood:	n/a	n/a
39	JUND	chr9:271721-273236	K562	blood:	n/a	chr9:271978-271988 chr9:271978-271988 chr9:271980-271991 chr9:271978-271988 chr9:271978-271988 chr9:271979-271987
40	RCOR1	chr9:272120-273321	K562	blood:	n/a	n/a
41	HMGN3	chr9:272248-272448	K562	blood:	n/a	n/a
42	POLR2A	chr9:272228-272550	K562	blood:	n/a	n/a
43	FOS	chr9:272212-272418	MCF10A-Er-Src	breast:	n/a	n/a
44	CUX1	chr9:271767-272541	K562	blood:	n/a	n/a
45	FOSL1	chr9:272118-272514	K562	blood:	n/a	chr9:272319-272330
46	GATA2	chr9:272111-272531	K562	blood:	n/a	n/a
47	ATF1	chr9:272150-272512	K562	blood:	n/a	n/a
48	POLR2A	chr9:272205-272555	K562	blood:	n/a	n/a
49	POLR2A	chr9:271890-273108	K562	blood:	n/a	n/a
50	JUN	chr9:272137-272529	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:213410..215081-chr9:270583..272682,2	MCF-7	breast:
2	chr9:212545..218648-chr9:270340..281940,20	K562	blood:
3	chr9:270180..272736-chr9:272837..274435,2	K562	blood:
4	chr9:213589..216422-chr9:270983..274599,7	K562	blood:
5	chr9:261493..264345-chr9:269680..272564,2	MCF-7	breast:

No data

Variant related genes	Relation type
DOCK8	TF binding region
ENSG00000107099	Chromatin interaction
ENSG00000235880	Chromatin interaction
ENSG00000183784	Chromatin interaction

Extended variants
information (count: 292 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs2479326	0.86[EUR][1000 genomes]
rs2479328	0.88[CEU][hapmap];0.87[CHB][hapmap];0.98[GIH][hapmap];0.90[TSI][hapmap];0.86[EUR][1000 genomes]
rs2484948	0.83[EUR][1000 genomes]
rs477109	0.81[CHB][hapmap]
rs487275	0.80[CHB][hapmap]
rs492887	0.80[CHB][hapmap]
rs492934	0.80[CHB][hapmap]
rs494637	0.86[ASN][1000 genomes]
rs511364	0.80[CHB][hapmap];0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs512379	0.80[CHB][hapmap];0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs513236	0.80[CHB][hapmap];0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs513300	0.80[CHB][hapmap];0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs517601	0.80[CHB][hapmap]
rs517616	0.86[EUR][1000 genomes]
rs519651	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs522222	0.85[EUR][1000 genomes]
rs525088	0.81[JPT][hapmap]
rs526509	0.81[ASW][hapmap];0.80[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];0.84[MEX][hapmap];0.81[TSI][hapmap];0.84[YRI][hapmap];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs535550	0.87[CHB][hapmap];0.86[TSI][hapmap]
rs537337	0.85[EUR][1000 genomes]
rs540909	0.81[CHB][hapmap]
rs543300	0.80[CHB][hapmap];0.85[JPT][hapmap]
rs543379	0.80[CHB][hapmap];0.85[JPT][hapmap]
rs549624	0.86[EUR][1000 genomes]
rs549707	0.86[EUR][1000 genomes]
rs552524	0.80[CHB][hapmap];0.85[JPT][hapmap]
rs552848	0.81[CHB][hapmap]
rs553489	0.80[CHB][hapmap]
rs557716	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs559505	0.82[ASN][1000 genomes]
rs560608	0.93[ASN][1000 genomes]
rs573071	0.87[CHB][hapmap]
rs573851	0.90[CHD][hapmap];0.82[ASN][1000 genomes]
rs573860	0.84[CEU][hapmap];0.87[CHB][hapmap];0.85[EUR][1000 genomes]
rs578216	0.80[CHB][hapmap]
rs578972	0.87[CHB][hapmap];0.85[JPT][hapmap];0.92[YRI][hapmap];0.87[ASN][1000 genomes]
rs581500	0.85[EUR][1000 genomes]
rs583840	0.81[ASN][1000 genomes]
rs586994	0.80[CHB][hapmap];0.83[CHD][hapmap];0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs600492	0.80[CHB][hapmap]
rs600509	0.82[ASN][1000 genomes]
rs600994	0.80[CHB][hapmap];0.85[JPT][hapmap];0.82[ASN][1000 genomes]
rs618810	0.87[CHB][hapmap]
rs641184	0.80[CHB][hapmap]
rs661356	0.80[CHB][hapmap]
rs663309	0.86[ASN][1000 genomes]
rs663327	0.87[ASN][1000 genomes]
rs679520	0.84[EUR][1000 genomes]
rs682251	0.87[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs684092	0.87[CHB][hapmap]
rs785843	0.80[CHB][hapmap];0.82[ASN][1000 genomes]
rs785845	0.80[CHB][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs785847	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9408082	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:238 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949672	chr9:13091-274606	Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
2	nsv948701	chr9:13091-499586	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
3	nsv949346	chr9:13091-776349	Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	esv2758174	chr9:31994-383816	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	esv2759654	chr9:31994-383816	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	nsv612981	chr9:39037-290841	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	esv2752301	chr9:40910-274606	Active TSS Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	esv2752302	chr9:40910-274606	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	esv2752303	chr9:40910-277989	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
10	nsv429974	chr9:40910-289061	Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
11	esv34714	chr9:40910-317370	Strong transcription Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
12	esv2752304	chr9:40910-409398	Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
13	nsv948375	chr9:40910-439102	Enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
14	esv2764172	chr9:40910-593899	Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
15	nsv949051	chr9:40910-925305	Bivalent Enhancer Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
16	esv2752306	chr9:46431-499586	Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
17	nsv1031167	chr9:46587-272950	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
18	nsv1015933	chr9:46587-289419	Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Active TSS Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
19	nsv1026546	chr9:46587-290670	Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
20	nsv1032144	chr9:46587-292002	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
21	nsv1033678	chr9:46587-319961	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
22	nsv1033923	chr9:46587-322795	ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
23	nsv1015879	chr9:46587-360382	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
24	nsv1021015	chr9:46587-370439	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
25	nsv1034651	chr9:46587-399040	Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
26	nsv515505	chr9:46587-449700	Enhancers Genic enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
27	nsv1024015	chr9:46587-449798	Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
28	nsv1033067	chr9:46587-499586	Bivalent Enhancer Strong transcription Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
29	nsv1018439	chr9:46587-518103	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
30	nsv530903	chr9:52389-356138	Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
31	esv2757299	chr9:57964-362209	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
32	nsv8403	chr9:62805-324255	Genic enhancers Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
33	nsv1023234	chr9:88018-309054	Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
34	nsv1033689	chr9:88018-358384	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
35	nsv1015260	chr9:101857-348466	Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
36	nsv612984	chr9:108998-318153	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
37	nsv1029147	chr9:110685-272950	Weak transcription Active TSS Strong transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
38	nsv1029333	chr9:110685-495126	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
39	nsv612985	chr9:112542-358932	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
40	nsv1015468	chr9:115889-273160	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
41	nsv1031437	chr9:199707-272950	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
42	nsv1022969	chr9:199707-273651	Genic enhancers Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
43	nsv891947	chr9:199707-274433	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
44	nsv442127	chr9:199707-274606	Genic enhancers Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
45	nsv891948	chr9:199707-279149	Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
46	nsv891949	chr9:199707-281976	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
47	nsv1018435	chr9:199707-297866	Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
48	nsv891951	chr9:199707-303639	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
49	nsv1025382	chr9:199707-309054	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
50	nsv1024500	chr9:199707-332639	Active TSS Flanking Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs532701	CBWD1	cis	Skin Sun Exposed Lower leg	GTEx
rs532701	CBWD1	cis	Esophagus Mucosa	GTEx

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:265600-272600	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr9:266000-281600	Weak transcription	Adipose Nuclei	Adipose
3	chr9:268800-272600	Weak transcription	Thymus	Thymus
4	chr9:268800-280400	Weak transcription	Psoas Muscle	Psoas
5	chr9:268800-282200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr9:268800-294400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr9:268800-337200	Weak transcription	Gastric	stomach
8	chr9:269200-273000	Weak transcription	Duodenum Mucosa	Duodenum
9	chr9:269200-280400	Weak transcription	Placenta	Placenta
10	chr9:269400-273000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr9:269600-272400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr9:269600-273000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr9:269600-275000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
14	chr9:269800-272800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr9:270000-272600	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr9:270200-272600	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr9:270400-272400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr9:270400-272400	Enhancers	Sigmoid Colon	Sigmoid Colon
19	chr9:270600-312600	Weak transcription	Fetal Intestine Large	intestine
20	chr9:270800-293000	Weak transcription	Lung	lung
21	chr9:271000-272400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr9:271000-272400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr9:271000-272600	Enhancers	Primary T helper naive cells from peripheral blood	blood
24	chr9:271000-278400	Weak transcription	Spleen	Spleen
25	chr9:271000-296800	Weak transcription	Esophagus	oesophagus
26	chr9:271200-272600	Enhancers	Primary B cells from cord blood	blood
27	chr9:271200-272600	Enhancers	Fetal Thymus	thymus
28	chr9:271200-273000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
29	chr9:271400-273000	Enhancers	Primary B cells from peripheral blood	blood
30	chr9:271600-272400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr9:271600-272800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
32	chr9:271800-272600	Enhancers	Rectal Mucosa Donor 29	rectum
33	chr9:271800-272800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr9:271800-273000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
35	chr9:271800-273000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
36	chr9:271800-273000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
37	chr9:271800-282200	Weak transcription	Small Intestine	intestine
38	chr9:272000-272400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
39	chr9:272000-272400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
40	chr9:272000-272600	Flanking Active TSS	Primary T cells from cord blood	blood
41	chr9:272000-272600	Enhancers	Dnd41	blood
42	chr9:272200-272400	Enhancers	Monocytes-CD14+_RO01746	blood
43	chr9:272200-272600	Enhancers	GM12878-XiMat	blood
44	chr9:272200-272800	Flanking Active TSS	Primary hematopoietic stem cells	blood
45	chr9:272200-272800	Enhancers	K562	blood
46	chr9:272200-273000	Flanking Active TSS	Primary T cells fromperipheralblood	blood

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