Variant report

Variant	nsv883290
Chromosome Location	chr5:179712060-179818868
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3074)
CpG islands
(count:3975)
Chromatin interactive
region (count:167)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:9)

(count:3074 , 50 per page) page: 1 2 3 4 5 6 7 ... 62

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr5:179720477-179720778	HepG2	liver:	n/a	n/a
2	ARID3A	chr5:179758273-179758284	K562	blood:	n/a	n/a
3	ARID3A	chr5:179730871-179731124	HepG2	liver:	n/a	n/a
4	ARID3A	chr5:179717554-179717711	HepG2	liver:	n/a	n/a
5	ARID3A	chr5:179720502-179720795	K562	blood:	n/a	n/a
6	ARID3A	chr5:179724661-179724980	HepG2	liver:	n/a	n/a
7	ATF2	chr5:179720267-179720956	H1-hESC	embryonic stem cell:	n/a	n/a
8	ATF2	chr5:179755543-179755996	H1-hESC	embryonic stem cell:	n/a	n/a
9	ATF2	chr5:179720348-179720900	H1-hESC	embryonic stem cell:	n/a	n/a
10	ATF2	chr5:179758900-179759312	H1-hESC	embryonic stem cell:	n/a	n/a
11	ATF2	chr5:179770369-179771163	H1-hESC	embryonic stem cell:	n/a	n/a
12	ATF2	chr5:179758507-179759265	H1-hESC	embryonic stem cell:	n/a	n/a
13	ATF2	chr5:179755640-179756058	H1-hESC	embryonic stem cell:	n/a	n/a
14	ATF3	chr5:179757685-179758309	A549	lung:	n/a	chr5:179758018-179758031
15	ATF3	chr5:179757614-179758313	A549	lung:	n/a	chr5:179758018-179758031
16	ATF3	chr5:179720392-179720963	A549	lung:	n/a	n/a
17	BACH1	chr5:179770098-179770954	H1-hESC	embryonic stem cell:	n/a	n/a
18	BACH1	chr5:179779393-179779698	H1-hESC	embryonic stem cell:	n/a	n/a
19	BACH1	chr5:179781289-179781456	H1-hESC	embryonic stem cell:	n/a	n/a
20	BACH1	chr5:179779932-179780969	H1-hESC	embryonic stem cell:	n/a	n/a
21	BACH1	chr5:179758683-179759306	H1-hESC	embryonic stem cell:	n/a	n/a
22	BACH1	chr5:179779057-179779111	H1-hESC	embryonic stem cell:	n/a	n/a
23	BATF	chr5:179794267-179794718	GM12878	blood:	n/a	n/a
24	BATF	chr5:179794372-179794604	GM12878	blood:	n/a	n/a
25	BCL11A	chr5:179794291-179794620	GM12878	blood:	n/a	n/a
26	BCL3	chr5:179757304-179758364	A549	lung:	n/a	n/a
27	BCL3	chr5:179720340-179721023	A549	lung:	n/a	n/a
28	BCL3	chr5:179760458-179761065	A549	lung:	n/a	n/a
29	BCL3	chr5:179792018-179792284	GM12878	blood:	n/a	n/a
30	BCL3	chr5:179760561-179761070	A549	lung:	n/a	n/a
31	BCL3	chr5:179757567-179758375	A549	lung:	n/a	n/a
32	BCLAF1	chr5:179720327-179720896	GM12878	blood:	n/a	n/a
33	BHLHE40	chr5:179742735-179743050	GM12878	blood:	n/a	n/a
34	BHLHE40	chr5:179749490-179749574	K562	blood:	n/a	chr5:179749519-179749528 chr5:179749518-179749531 chr5:179749520-179749529 chr5:179749520-179749529
35	BHLHE40	chr5:179817911-179818150	K562	blood:	n/a	n/a
36	BHLHE40	chr5:179719365-179719686	K562	blood:	n/a	n/a
37	BHLHE40	chr5:179718950-179719809	GM12878	blood:	n/a	n/a
38	BHLHE40	chr5:179755711-179755966	K562	blood:	n/a	n/a
39	BHLHE40	chr5:179741343-179741375	K562	blood:	n/a	n/a
40	BHLHE40	chr5:179758303-179758312	K562	blood:	n/a	n/a
41	BHLHE40	chr5:179742722-179743065	K562	blood:	n/a	n/a
42	BHLHE40	chr5:179740757-179741008	HepG2	liver:	n/a	n/a
43	BHLHE40	chr5:179720495-179720872	GM12878	blood:	n/a	n/a
44	BHLHE40	chr5:179740802-179740886	K562	blood:	n/a	n/a
45	BHLHE40	chr5:179720388-179720831	K562	blood:	n/a	n/a
46	BRCA1	chr5:179719675-179719818	Hela-S3	cervix:	n/a	n/a
47	BRCA1	chr5:179757619-179758209	Hela-S3	cervix:	n/a	n/a
48	BRCA1	chr5:179742724-179743015	H1-hESC	embryonic stem cell:	n/a	n/a
49	BRCA1	chr5:179755877-179756111	GM12878	blood:	n/a	n/a
50	BRCA1	chr5:179755688-179755870	HepG2	liver:	n/a	n/a

(count:3975 , 50 per page) page: 1 2 3 4 5 6 7 ... 80

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:179771628-179771678	GM12892	blood:	n/a
2	chr5:179718685-179718735	HRE	kidney:	n/a
3	chr5:179780409-179780459	Caco-2	colon:	n/a
4	chr5:179719199-179719249	HMEC	breast:	n/a
5	chr5:179806657-179806707	PFSK-1	brain:	n/a
6	chr5:179719199-179719249	ProgFib	skin:	n/a
7	chr5:179755324-179755374	HIPEpiC	eye:	n/a
8	chr5:179755324-179755374	MCF10A-Er-Src	breast:	n/a
9	chr5:179751794-179751844	NT2-D1	testis:	n/a
10	chr5:179763678-179763728	HCM	heart:	n/a
11	chr5:179771628-179771678	GM12892	blood:	n/a
12	chr5:179718685-179718735	HRE	kidney:	n/a
13	chr5:179780409-179780459	Caco-2	colon:	n/a
14	chr5:179719199-179719249	HMEC	breast:	n/a
15	chr5:179806657-179806707	PFSK-1	brain:	n/a
16	chr5:179719199-179719249	ProgFib	skin:	n/a
17	chr5:179755324-179755374	HIPEpiC	eye:	n/a
18	chr5:179755324-179755374	MCF10A-Er-Src	breast:	n/a
19	chr5:179751794-179751844	NT2-D1	testis:	n/a
20	chr5:179763678-179763728	HCM	heart:	n/a
21	chr5:179719416-179719466	SK-N-SH	brain:	n/a
22	chr5:179740743-179740793	MCF10A-Er-Src	breast:	n/a
23	chr5:179770299-179770349	IMR90	lung:	fetal
24	chr5:179816878-179816928	Caco-2	colon:	n/a
25	chr5:179719171-179719221	HEK293	kidney:	embryo
26	chr5:179743882-179743932	Hepatocyte	liver:	n/a
27	chr5:179763055-179763105	ovcar-3	ovarian:	n/a
28	chr5:179781245-179781295	HCF	heart:	n/a
29	chr5:179775488-179775538	BE2_C	brain:	n/a
30	chr5:179719190-179719240	BE2_C	brain:	n/a
31	chr5:179779115-179779165	Jurkat	blood:	n/a
32	chr5:179779237-179779287	MCF10A-Er-Src	breast:	n/a
33	chr5:179816503-179816553	HEK293	kidney:	embryo
34	chr5:179779123-179779173	HCPEpiC	choroid plexus:	n/a
35	chr5:179743586-179743636	A549	lung:	n/a
36	chr5:179762999-179763049	CMK	blood:	n/a
37	chr5:179741120-179741170	BE2_C	brain:	n/a
38	chr5:179779123-179779173	U87	brain:	n/a
39	chr5:179719199-179719249	HAEpiC	amniotic membrane:	n/a
40	chr5:179719190-179719240	PANC-1	pancreas:	n/a
41	chr5:179806747-179806797	HL-60	blood:	n/a
42	chr5:179719171-179719221	ProgFib	skin:	n/a
43	chr5:179779954-179780004	HCT-116	colon:	n/a
44	chr5:179816503-179816553	K562	blood:	n/a
45	chr5:179719199-179719249	RPTEC	kidney:	n/a
46	chr5:179719171-179719221	HCF	heart:	n/a
47	chr5:179741104-179741154	NHBE	bronchial:	n/a
48	chr5:179751794-179751844	HRCEpiC	kidney:	n/a
49	chr5:179718685-179718735	MCF10A-Er-Src	breast:	n/a
50	chr5:179815975-179816025	K562	blood:	n/a

(count:167 , 50 per page) page: 1 2 3 4

No.	Distal block	Cell Line	Cell type
1	chr5:179739299..179743379-chr5:179893176..179898905,6	MCF-7	breast:
2	chr5:179718232..179719781-chr5:179756949..179759059,2	MCF-7	breast:
3	chr5:179627950..179628952-chr5:179742140..179743347,3	K562	blood:
4	chr5:179715674..179717304-chr5:179721521..179723626,2	K562	blood:
5	chr5:179718232..179719781-chr5:179756949..179759059,2	MCF-7	breast:
6	chr5:179724952..179726491-chr5:179726777..179728319,2	MCF-7	breast:
7	chr5:179805841..179808763-chr5:179880689..179883410,2	MCF-7	breast:
8	chr5:179758118..179760214-chr5:179779421..179781494,2	MCF-7	breast:
9	chr5:179795278..179797772-chr5:179803121..179806060,2	MCF-7	breast:
10	chr5:179738876..179741151-chr6:26204782..26206564,2	MCF-7	breast:
11	chr5:179720585..179721111-chr5:179742335..179742892,2	K562	blood:
12	chr5:179760436..179761974-chr5:179802802..179805254,2	MCF-7	breast:
13	chr20:46275666..46278048-chr5:179716451..179718791,2	MCF-7	breast:
14	chr5:179720624..179723530-chr5:179725711..179728473,2	K562	blood:
15	chr5:179740156..179743106-chr5:179752395..179754766,3	MCF-7	breast:
16	chr5:179743201..179745094-chr5:179754638..179756187,2	MCF-7	breast:
17	chr5:179739190..179742513-chr5:179779970..179783347,3	MCF-7	breast:
18	chr5:179799196..179802015-chr5:180050331..180053003,2	MCF-7	breast:
19	chr5:179761022..179762666-chr5:179778358..179780120,2	MCF-7	breast:
20	chr5:179753387..179757614-chr5:179776973..179781058,5	MCF-7	breast:
21	chr5:179753055..179755453-chr5:179756186..179759141,2	K562	blood:
22	chr5:179720303..179721088-chr5:179756913..179757480,2	MCF-7	breast:
23	chr5:179717535..179723990-chr5:179738269..179745292,15	MCF-7	breast:
24	chr5:179723581..179725108-chr5:179754464..179757151,2	MCF-7	breast:
25	chr5:179803275..179805488-chr5:179810021..179812217,2	MCF-7	breast:
26	chr5:179758118..179760214-chr5:179779421..179781494,2	MCF-7	breast:
27	chr2:178298391..178298891-chr5:179720979..179721480,2	Hela-S3	cervix:
28	chr5:179761126..179762815-chr5:179764028..179766885,2	MCF-7	breast:
29	chr5:179719380..179721789-chr5:179733995..179736728,3	MCF-7	breast:
30	chr5:179628027..179629201-chr5:179755361..179756060,4	K562	blood:
31	chr5:179718624..179722005-chr5:179739945..179743525,7	MCF-7	breast:
32	chr5:179795278..179797772-chr5:179803121..179806060,2	MCF-7	breast:
33	chr5:179724591..179726786-chr5:179739258..179741473,3	MCF-7	breast:
34	chr5:179716694..179718257-chr5:179740990..179742816,2	MCF-7	breast:
35	chr5:179743533..179745138-chr5:179758966..179761002,2	K562	blood:
36	chr5:179803767..179805689-chr5:179809900..179812491,2	K562	blood:
37	chr5:179723581..179725108-chr5:179754464..179757151,2	MCF-7	breast:
38	chr5:179633482..179636303-chr5:179718045..179719781,2	K562	blood:
39	chr5:179776807..179778775-chr5:179896611..179898165,2	MCF-7	breast:
40	chr5:179761366..179762907-chr5:179778536..179780759,2	MCF-7	breast:
41	chr5:179743201..179745094-chr5:179754638..179756187,2	MCF-7	breast:
42	chr5:179744373..179746691-chr5:179749778..179751950,2	K562	blood:
43	chr5:179718120..179720283-chr5:180227933..180230146,2	MCF-7	breast:
44	chr19:1747829..1748422-chr5:179718198..179718965,2	Hela-S3	cervix:
45	chr5:179771173..179772905-chr5:179777611..179780559,4	MCF-7	breast:
46	chr5:179738783..179741691-chr5:179897243..179899588,2	MCF-7	breast:
47	chr5:179743629..179745523-chr5:179753603..179755727,2	K562	blood:
48	chr5:179739780..179742416-chr5:179755432..179756942,2	MCF-7	breast:
49	chr5:179719776..179721079-chr5:179755388..179756357,4	MCF-7	breast:
50	chr5:179778359..179781010-chr5:179803668..179805755,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CNOT6-4	chr5:179722035-179722215	XLOC_004678
2	lnc-CNOT6-4	chr5:179719184-179722539	NONHSAT105673
3	lnc-CNOT6-4	chr5:179719195-179719481	XLOC_004678
4	lnc-CNOT6-4	chr5:179720245-179720418	XLOC_004678
5	lnc-CNOT6-4	chr5:179722035-179722253	XLOC_004678

No data

(count:9 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	GFPT2	hsa-miR-32-5p	chr5:179728301-179728322
2	GFPT2	hsa-miR-32-5p	chr5:179728307-179728300
3	GFPT2	hsa-miR-101-3p	chr5:179728272-179728293
4	GFPT2	hsa-miR-101-3p	chr5:179728387-179728408
5	GFPT2	hsa-miR-128-3p	chr5:179728276-179728270
6	GFPT2	hsa-miR-124-3p	chr5:179728421-179728440
7	GFPT2	hsa-miR-30b-5p	chr5:179728346-179728339
8	GFPT2	hsa-miR-124-3p	chr5:179728427-179728421
9	GFPT2	hsa-miR-30b-5p	chr5:179728340-179728362

Variant related genes	Relation type
GFPT2	TF binding region
ENSG00000248367	TF binding region
MAPK9	TF binding region
GFPT2	CpG island
ENSG00000248367	CpG island
MAPK9	CpG island
ENSG00000212195	chromatin interactions
ENSG00000248367	chromatin interactions
ENSG00000115935	chromatin interactions
ENSG00000131459	chromatin interactions
ENSG00000131446	chromatin interactions
ENSG00000253908	chromatin interactions
ENSG00000267073	chromatin interactions
ENSG00000146090	chromatin interactions
ENSG00000198518	chromatin interactions
ENSG00000113300	chromatin interactions
ENSG00000050748	chromatin interactions
TGFBR1	miRNA target sites

Extended variants
information (count: 5097 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:5097 , 50 per page) page: 1 2 3 4 5 6 7 ... 102

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6867398	chr5:179712060-179712061	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs187696142	chr5:179712065-179712066	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs139343939	chr5:179712070-179712071	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs530259884	chr5:179712177-179712178	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs78134565	chr5:179712192-179712193	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs542013128	chr5:179712194-179712195	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs561797246	chr5:179712247-179712248	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs572296170	chr5:179712290-179712291	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs541011629	chr5:179712318-179712319	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs6886174	chr5:179712381-179712382	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs564450857	chr5:179712388-179712389	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs533396179	chr5:179712389-179712390	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs550261342	chr5:179712399-179712400	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs192692703	chr5:179712427-179712428	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs542538163	chr5:179712433-179712434	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs6887544	chr5:179712451-179712452	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs116238922	chr5:179712458-179712459	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs535306158	chr5:179712467-179712468	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs78653228	chr5:179712502-179712503	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs551693787	chr5:179712503-179712504	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs76581095	chr5:179712534-179712535	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs555687610	chr5:179712535-179712536	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs184879273	chr5:179712603-179712604	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs555795421	chr5:179712650-179712651	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs576100679	chr5:179712669-179712670	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs565899787	chr5:179712689-179712690	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs555536414	chr5:179712698-179712699	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs572172858	chr5:179712708-179712709	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs541315938	chr5:179712715-179712716	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs114767663	chr5:179712719-179712720	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs578048210	chr5:179712736-179712737	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs6872534	chr5:179712740-179712741	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs6872544	chr5:179712754-179712755	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs35777469	chr5:179712768-179712769	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs35216018	chr5:179712779-179712780	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs200432244	chr5:179712784-179712785	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs529378403	chr5:179712805-179712806	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs549255685	chr5:179712807-179712808	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs559883531	chr5:179712817-179712818	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs62404891	chr5:179712850-179712851	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs551630915	chr5:179712874-179712875	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs571610400	chr5:179712894-179712895	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs113641369	chr5:179712987-179712988	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs532728736	chr5:179712996-179712997	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs549359313	chr5:179713029-179713030	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs56658635	chr5:179713080-179713081	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs114860653	chr5:179713112-179713113	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs554112535	chr5:179713148-179713149	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs368662445	chr5:179713149-179713150	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs189209411	chr5:179713177-179713178	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:104)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Thyroid cancer	19087340	CNVD
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Renal cell carcinoma	19377443	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18592004	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Prostate cancer	18632612	CNVD
epilepsy	18472482	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Sotos syndrome	21572526	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Sotos syndrome	17561922	CNVD
Sotos syndrome	16773131	CNVD
Mental retardation	16773131	CNVD
Sotos syndrome	22470819	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Acute myeloid leukemia	18000384	CNVD
Sudden cardiac death	19188705	CNVD
Basal cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Lung cancer	17297452	CNVD
Cancer	20164920	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Sotos syndrome	22283845	CNVD
Breast cancer	16272173	CNVD
Sotos syndrome	20503325	CNVD
Lung adenocarcinoma	17086460	CNVD
Congenital Hypertrichosis Syndrome	21636067	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	19181860	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ehlers-danlos syndrome	17576883	CNVD
Lung cancer	17086460	CNVD
Autism	19246517	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Autism	20808228	CNVD
small cell lung cancer	20016488	CNVD
Autism	22543975	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Melanoma	20877625	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:3260 , 50 per page) page: 1 2 3 4 5 6 7 ... 66

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179653600-179714600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr5:179655400-179712600	ZNF genes & repeats	Liver	Liver
3	chr5:179670200-179712800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr5:179692800-179718000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr5:179694800-179717600	Weak transcription	HUVEC	blood vessel
6	chr5:179696400-179714800	Weak transcription	Fetal Brain Male	brain
7	chr5:179699000-179714600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr5:179699800-179712600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr5:179700600-179712600	Strong transcription	Primary T cells from cord blood	blood
10	chr5:179702400-179714000	Strong transcription	Thymus	Thymus
11	chr5:179702600-179712200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr5:179703000-179717400	Weak transcription	NHLF	lung
13	chr5:179703400-179714000	Strong transcription	Sigmoid Colon	Sigmoid Colon
14	chr5:179703800-179714600	Strong transcription	Dnd41	blood
15	chr5:179704000-179712600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
16	chr5:179704200-179714200	Strong transcription	Stomach Smooth Muscle	stomach
17	chr5:179704400-179712400	Strong transcription	Duodenum Mucosa	Duodenum
18	chr5:179704600-179712800	Strong transcription	Primary T helper cells PMA-I stimulated	--
19	chr5:179704600-179716600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr5:179704600-179716600	Weak transcription	Psoas Muscle	Psoas
21	chr5:179704600-179716800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr5:179704600-179717200	Weak transcription	Small Intestine	intestine
23	chr5:179704600-179718000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr5:179705200-179717200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr5:179705600-179717600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr5:179706200-179712800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr5:179706400-179712200	Weak transcription	K562	blood
28	chr5:179706600-179712800	Strong transcription	Primary B cells from cord blood	blood
29	chr5:179706600-179717200	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr5:179706600-179717200	Weak transcription	Colon Smooth Muscle	Colon
31	chr5:179706800-179718400	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr5:179707000-179713800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr5:179707200-179713600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr5:179707200-179713800	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr5:179707200-179717200	Weak transcription	NHDF-Ad	bronchial
36	chr5:179707400-179717200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr5:179707600-179717600	Weak transcription	Fetal Kidney	kidney
38	chr5:179707800-179713600	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr5:179707800-179716400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr5:179708000-179717200	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr5:179708200-179712400	Strong transcription	Skeletal Muscle Male	skeletal muscle
42	chr5:179708200-179717200	Weak transcription	HSMM	muscle
43	chr5:179708400-179717400	Weak transcription	Osteobl	bone
44	chr5:179708400-179717800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr5:179709000-179714000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr5:179709400-179712600	Enhancers	Brain Substantia Nigra	brain
47	chr5:179709600-179715200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr5:179709800-179712400	Enhancers	Fetal Heart	heart
49	chr5:179709800-179712800	Enhancers	Brain Inferior Temporal Lobe	brain
50	chr5:179710000-179716800	Weak transcription	Duodenum Smooth Muscle	Duodenum

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