Variant report

Variant	esv3445424
Chromosome Location	chr13:30169002-30170950
allele	n/a
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	ARID3A	chr13:30170053-30170123	HepG2	liver:	n/a	n/a
2	ATF2	chr13:30168897-30169456	GM12878	blood:	n/a	n/a
3	ATF2	chr13:30168499-30169250	GM12878	blood:	n/a	n/a
4	ATF3	chr13:30168972-30169405	K562	blood:	n/a	chr13:30169089-30169098 chr13:30169217-30169226
5	BACH1	chr13:30169186-30170316	H1-hESC	embryonic stem cell:	n/a	n/a
6	BATF	chr13:30168926-30169445	GM12878	blood:	n/a	n/a
7	BCL3	chr13:30168831-30169399	GM12878	blood:	n/a	chr13:30169031-30169044 chr13:30169138-30169151 chr13:30169176-30169189 chr13:30169172-30169185 chr13:30169134-30169147
8	BCLAF1	chr13:30169824-30170286	GM12878	blood:	n/a	chr13:30169938-30169951 chr13:30170162-30170170 chr13:30169927-30169940 chr13:30169934-30169943 chr13:30169932-30169945 chr13:30169960-30169973 chr13:30169937-30169946
9	BCLAF1	chr13:30168706-30169467	GM12878	blood:	n/a	chr13:30169031-30169044 chr13:30169138-30169151 chr13:30169176-30169189 chr13:30169172-30169185 chr13:30169134-30169147
10	BHLHE40	chr13:30169634-30169789	K562	blood:	n/a	chr13:30169712-30169728
11	BHLHE40	chr13:30170060-30170172	K562	blood:	n/a	n/a
12	BHLHE40	chr13:30168371-30169369	GM12878	blood:	n/a	chr13:30169002-30169018
13	BHLHE40	chr13:30169164-30169386	K562	blood:	n/a	n/a
14	BHLHE40	chr13:30169596-30169809	GM12878	blood:	n/a	chr13:30169712-30169728
15	BRCA1	chr13:30169993-30170255	Hela-S3	cervix:	n/a	n/a
16	CCNT2	chr13:30168898-30170255	K562	blood:	n/a	n/a
17	CEBPB	chr13:30169114-30169481	A549	lung:	n/a	chr13:30169284-30169295
18	CEBPB	chr13:30169099-30169456	H1-hESC	embryonic stem cell:	n/a	chr13:30169284-30169295
19	CEBPB	chr13:30168935-30169486	IMR90	lung:	n/a	chr13:30169284-30169295
20	CEBPB	chr13:30169755-30169796	HepG2	liver:	n/a	n/a
21	CEBPB	chr13:30169078-30169587	A549	lung:	n/a	chr13:30169284-30169295
22	CEBPB	chr13:30170234-30170238	A549	lung:	n/a	n/a
23	CEBPB	chr13:30169042-30169478	HepG2	liver:	n/a	chr13:30169284-30169295
24	CEBPB	chr13:30168973-30169493	K562	blood:	n/a	chr13:30169284-30169295
25	CEBPB	chr13:30169121-30169433	K562	blood:	n/a	chr13:30169284-30169295
26	CEBPB	chr13:30168313-30170146	Hela-S3	cervix:	n/a	chr13:30168508-30168521 chr13:30169284-30169295
27	CEBPB	chr13:30169208-30169401	ECC-1	luminal epithelium:	n/a	chr13:30169284-30169295
28	CEBPB	chr13:30169019-30169486	HepG2	liver:	n/a	chr13:30169284-30169295
29	CEBPB	chr13:30169072-30169453	K562	blood:	n/a	chr13:30169284-30169295
30	CEBPB	chr13:30169002-30169477	ECC-1	luminal epithelium:	n/a	chr13:30169284-30169295
31	CEBPB	chr13:30169043-30169492	MCF-7	breast:	n/a	chr13:30169284-30169295
32	CEBPB	chr13:30169023-30169548	MCF-7	breast:	n/a	chr13:30169284-30169295
33	CEBPB	chr13:30169173-30169413	HepG2	liver:	n/a	chr13:30169284-30169295
34	CEBPD	chr13:30169143-30169344	HepG2	liver:	n/a	n/a
35	CHD1	chr13:30169253-30169448	H1-hESC	embryonic stem cell:	n/a	n/a
36	CHD1	chr13:30167920-30170849	IMR90	lung:	n/a	chr13:30169129-30169139 chr13:30169090-30169100
37	CHD1	chr13:30168359-30169492	GM12878	blood:	n/a	chr13:30169129-30169139 chr13:30169090-30169100
38	CHD2	chr13:30169941-30170142	GM12878	blood:	n/a	n/a
39	CHD2	chr13:30170002-30170222	H1-hESC	embryonic stem cell:	n/a	n/a
40	CHD2	chr13:30168925-30169251	H1-hESC	embryonic stem cell:	n/a	chr13:30169129-30169139 chr13:30169090-30169100
41	CHD2	chr13:30168981-30169340	K562	blood:	n/a	chr13:30169129-30169139 chr13:30169090-30169100
42	CHD2	chr13:30169644-30169693	GM12878	blood:	n/a	n/a
43	CHD2	chr13:30168954-30169348	GM12878	blood:	n/a	chr13:30169129-30169139 chr13:30169090-30169100
44	CHD2	chr13:30169055-30170238	Hela-S3	cervix:	n/a	chr13:30169129-30169139 chr13:30169090-30169100
45	CREB1	chr13:30169559-30170261	GM12878	blood:	n/a	n/a
46	CREB1	chr13:30168287-30169511	HepG2	liver:	n/a	n/a
47	CREB1	chr13:30169664-30170283	H1-hESC	embryonic stem cell:	n/a	n/a
48	CREB1	chr13:30169859-30170064	A549	lung:	n/a	n/a
49	CREB1	chr13:30169712-30170184	K562	blood:	n/a	n/a
50	CREB1	chr13:30169530-30170296	HepG2	liver:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr13:30170129-30170179	AoSMC	blood vessel:	n/a
2	chr13:30170129-30170179	Jurkat	blood:	n/a
3	chr13:30169249-30169299	MCF10A-Er-Src	breast:	n/a
4	chr13:30170844-30170894	AG10803	skin:	n/a
5	chr13:30169727-30169777	A549	lung:	n/a
6	chr13:30170844-30170894	HRCEpiC	kidney:	n/a
7	chr13:30170844-30170894	SK-N-SH	brain:	n/a
8	chr13:30169727-30169777	Caco-2	colon:	n/a
9	chr13:30169249-30169299	AG09319	gingival:	n/a
10	chr13:30170844-30170894	HRE	kidney:	n/a
11	chr13:30170844-30170894	AG04449	skin:	fetal
12	chr13:30170122-30170172	Hepatocyte	liver:	n/a
13	chr13:30169249-30169299	ECC-1	luminal epithelium:	n/a
14	chr13:30170129-30170179	T-47D	breast:	n/a
15	chr13:30169482-30169532	GM12878	blood:	n/a
16	chr13:30170094-30170144	NT2-D1	testis:	n/a
17	chr13:30170129-30170179	SK-N-SH_RA	brain:	n/a
18	chr13:30169249-30169299	HAEpiC	amniotic membrane:	n/a
19	chr13:30169249-30169299	SK-N-MC	brain:	n/a
20	chr13:30169249-30169299	PANC-1	pancreas:	n/a
21	chr13:30170122-30170172	HCT-116	colon:	n/a
22	chr13:30170122-30170172	NH-A	brain:	n/a
23	chr13:30170844-30170894	GM12892	blood:	n/a
24	chr13:30170094-30170144	GM12878	blood:	n/a
25	chr13:30169482-30169532	A549	lung:	n/a
26	chr13:30170129-30170179	A549	lung:	n/a
27	chr13:30169482-30169532	GM06990	blood:	n/a
28	chr13:30170844-30170894	LNCaP	prostate:	n/a
29	chr13:30170129-30170179	ProgFib	skin:	n/a
30	chr13:30169482-30169532	HCM	heart:	n/a
31	chr13:30169249-30169299	AG04450	lung:	fetal
32	chr13:30170844-30170894	AoSMC	blood vessel:	n/a
33	chr13:30170129-30170179	HRCEpiC	kidney:	n/a
34	chr13:30170844-30170894	GM12878	blood:	n/a
35	chr13:30169482-30169532	IMR90	lung:	fetal
36	chr13:30170129-30170179	PFSK-1	brain:	n/a
37	chr13:30169482-30169532	NHBE	bronchial:	n/a
38	chr13:30169825-30169875	SK-N-SH_RA	brain:	n/a
39	chr13:30170844-30170894	SAEC	small airway:	n/a
40	chr13:30170094-30170144	HCPEpiC	choroid plexus:	n/a
41	chr13:30170129-30170179	SK-N-SH	brain:	n/a
42	chr13:30169482-30169532	HEK293	kidney:	embryo
43	chr13:30169825-30169875	ovcar-3	ovarian:	n/a
44	chr13:30169249-30169299	Jurkat	blood:	n/a
45	chr13:30170094-30170144	BJ	skin:	n/a
46	chr13:30170122-30170172	Jurkat	blood:	n/a
47	chr13:30170129-30170179	NHDF-neo	bronchial:	n/a
48	chr13:30170129-30170179	NT2-D1	testis:	n/a
49	chr13:30170129-30170179	IMR90	lung:	fetal
50	chr13:30170094-30170144	HEEpiC	esophagus:	n/a

No.	Distal block	Cell Line	Cell type
1	chr13:30169255..30170193-chr3:73159968..73160573,2	Hela-S3	cervix:
2	chr13:30091097..30092804-chr13:30167943..30169459,2	K562	blood:
3	chr13:30086955..30089041-chr13:30166781..30169428,2	MCF-7	breast:
4	chr12:49525036..49525582-chr13:30168706..30169410,2	Hela-S3	cervix:
5	chr13:30069723..30071518-chr13:30169502..30172461,2	MCF-7	breast:
6	chr13:30168942..30169620-chr2:220094024..220094805,2	Hela-S3	cervix:
7	chr13:30168290..30169281-chr3:119814085..119814597,2	Hela-S3	cervix:
8	chr13:30093611..30096522-chr13:30167989..30170777,2	MCF-7	breast:
9	chr13:30170246..30170891-chr4:53525300..53526271,2	MCF-7	breast:
10	chr13:30168293..30169921-chr13:31039031..31041940,2	K562	blood:
11	chr13:30168902..30170623-chr13:47369921..47372567,2	MCF-7	breast:
12	chr13:30169260..30170181-chr14:23398301..23399025,2	HCT-116	colon:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MTUS2-2	chr13:30170824-30170919	XLOC_010330
2	lnc-MTUS2-2	chr13:30170020-30170280	XLOC_010330

Variant related genes	Relation type
SLC7A1	TF binding region
SLC7A1	CpG island
ENSG00000189403	chromatin interactions
ENSG00000139684	chromatin interactions
ENSG00000257285	chromatin interactions
ENSG00000242622	chromatin interactions
ENSG00000223247	chromatin interactions
ENSG00000163516	chromatin interactions
ENSG00000132938	chromatin interactions
ENSG00000109189	chromatin interactions
ENSG00000100462	chromatin interactions
ENSG00000198925	chromatin interactions
ENSG00000248866	chromatin interactions
ENSG00000123416	chromatin interactions
ENSG00000139514	chromatin interactions
ENSG00000258017	chromatin interactions

Extended variants
information (count: 60 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:60 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558018500	chr13:30169036-30169037	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
2	rs369331946	chr13:30169050-30169051	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
3	rs4769763	chr13:30169098-30169099	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Weak transcription	Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs111324208	chr13:30169140-30169141	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
5	rs140166390	chr13:30169174-30169175	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
6	rs114917727	chr13:30169192-30169193	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
7	rs368867170	chr13:30169232-30169233	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
8	rs573796049	chr13:30169250-30169251	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
9	rs12872613	chr13:30169307-30169308	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
10	rs555731742	chr13:30169314-30169315	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
11	rs35499262	chr13:30169459-30169460	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
12	rs542678731	chr13:30169467-30169468	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
13	rs372160330	chr13:30169498-30169499	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
14	rs77871962	chr13:30169521-30169522	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
15	rs544617158	chr13:30169533-30169534	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
16	rs73454246	chr13:30169550-30169551	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
17	rs533397262	chr13:30169634-30169635	Active TSS Weak transcription Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
18	rs546601066	chr13:30169638-30169639	Active TSS Weak transcription Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
19	rs140060217	chr13:30169644-30169645	Active TSS Weak transcription Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
20	rs555770903	chr13:30169662-30169663	Active TSS Weak transcription Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
21	rs76676938	chr13:30169666-30169667	Active TSS Weak transcription Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
22	rs566497537	chr13:30169799-30169800	Active TSS Weak transcription Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
23	rs61947180	chr13:30169861-30169862	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
24	rs549436003	chr13:30169920-30169921	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
25	rs558575413	chr13:30170011-30170012	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
26	rs575151300	chr13:30170048-30170049	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
27	rs575641690	chr13:30170069-30170070	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
28	rs9579416	chr13:30170111-30170112	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
29	rs538035919	chr13:30170125-30170126	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
30	rs192051656	chr13:30170136-30170137	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
31	rs374785866	chr13:30170151-30170152	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
32	rs534044148	chr13:30170156-30170157	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
33	rs71427274	chr13:30170167-30170168	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs573656197	chr13:30170176-30170177	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
35	rs543816096	chr13:30170209-30170210	Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
36	rs73454247	chr13:30170211-30170212	Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs185348565	chr13:30170280-30170281	Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
38	rs575791787	chr13:30170301-30170302	Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
39	rs57772856	chr13:30170330-30170331	Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs556729249	chr13:30170340-30170341	Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
41	rs547333571	chr13:30170393-30170394	Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
42	rs533463631	chr13:30170408-30170409	Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
43	rs540499422	chr13:30170419-30170420	Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
44	rs9578111	chr13:30170435-30170436	Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs111975045	chr13:30170436-30170437	Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
46	rs550291817	chr13:30170447-30170448	Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
47	rs369215916	chr13:30170452-30170453	Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
48	rs568978733	chr13:30170478-30170479	Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
49	rs142876319	chr13:30170569-30170570	Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
50	rs151075557	chr13:30170646-30170647	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Cancer	20164920	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
HIV/AIDS	22032296	CNVD
Prostate cancer	16705090	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Burkitt''s lymphoma	18698080	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	21518781	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Ovarian cancer	20844748	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Colorectal cancer	19359472	CNVD
Intracranial aneurysm	19064780	CNVD
Breast cancer	19287154	CNVD
Acute myeloid leukemia	18379011	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Multiple myeloma	17077331	CNVD
Ependymoma	16718352	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16272173	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Squamous cell cancer	20885788	CNVD
Thyroid cancer	19087340	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Malignant glioma	17146433	CNVD
Breast cancer	17899364	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Colorectal cancer	16774939	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	21829676	CNVD
Retinoblastoma	22278416	CNVD
Peters Plus syndrome	16909395	CNVD
Trisomy	24170809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Breast cancer	20031965	CNVD
Colorectal cancer	19287155	CNVD
Ovarian cancer	19047089	CNVD
Alveolar rhabdomyosarcoma	16790082	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Developmental delay	21147756	CNVD
Prostate cancer	18632612	CNVD

Chromatin state (count:290 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30167400-30170400	Active TSS	H1 Cell Line	embryonic stem cell
2	chr13:30167400-30170400	Active TSS	iPS-20b Cell Line	embryonic stem cell
3	chr13:30167600-30170200	Active TSS	GM12878-XiMat	blood
4	chr13:30167600-30170400	Active TSS	HUES48 Cell Line	embryonic stem cell
5	chr13:30167600-30170400	Active TSS	A549	lung
6	chr13:30167600-30170400	Active TSS	Hela-S3	cervix
7	chr13:30167600-30170600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr13:30167800-30170400	Active TSS	HUES64 Cell Line	embryonic stem cell
9	chr13:30167800-30170600	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr13:30168000-30169200	Enhancers	Fetal Brain Male	brain
11	chr13:30168000-30170000	Active TSS	Primary T helper cells PMA-I stimulated	--
12	chr13:30168000-30170000	Active TSS	HMEC	breast
13	chr13:30168000-30170200	Active TSS	Breast Myoepithelial Primary Cells	Breast
14	chr13:30168000-30170400	Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr13:30168000-30170400	Active TSS	K562	blood
16	chr13:30168200-30169200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr13:30168200-30170000	Active TSS	Stomach Smooth Muscle	stomach
18	chr13:30168200-30170200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr13:30168200-30170200	Active TSS	Rectal Mucosa Donor 29	rectum
20	chr13:30168200-30170400	Active TSS	H9 Cell Line	embryonic stem cell
21	chr13:30168200-30170400	Active TSS	Right Ventricle	heart
22	chr13:30168200-30170600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr13:30168200-30170600	Active TSS	Duodenum Smooth Muscle	Duodenum
24	chr13:30168200-30170600	Active TSS	Fetal Brain Female	brain
25	chr13:30168400-30169200	Flanking Active TSS	Primary hematopoietic stem cells	blood
26	chr13:30168400-30169200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr13:30168400-30169200	Flanking Active TSS	Adipose Nuclei	Adipose
28	chr13:30168400-30169200	Flanking Active TSS	Liver	Liver
29	chr13:30168400-30169200	Flanking Active TSS	Brain Germinal Matrix	brain
30	chr13:30168400-30169200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
31	chr13:30168400-30169600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
32	chr13:30168400-30170000	Active TSS	Fetal Muscle Trunk	muscle
33	chr13:30168400-30170000	Active TSS	HSMM	muscle
34	chr13:30168400-30170200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
35	chr13:30168400-30170200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr13:30168400-30170200	Active TSS	Brain Angular Gyrus	brain
37	chr13:30168400-30170200	Active TSS	Brain Cingulate Gyrus	brain
38	chr13:30168400-30170200	Active TSS	Fetal Kidney	kidney
39	chr13:30168400-30170200	Active TSS	Fetal Stomach	stomach
40	chr13:30168400-30170200	Active TSS	Gastric	stomach
41	chr13:30168400-30170200	Active TSS	Left Ventricle	heart
42	chr13:30168400-30170400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr13:30168400-30170400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr13:30168400-30170400	Active TSS	iPS-15b Cell Line	embryonic stem cell
45	chr13:30168400-30170400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr13:30168400-30170400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr13:30168400-30170400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr13:30168400-30170400	Active TSS	Aorta	Aorta
49	chr13:30168400-30170400	Active TSS	Brain Inferior Temporal Lobe	brain
50	chr13:30168400-30170400	Active TSS	Esophagus	oesophagus

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