Variant report

Variant	esv32727
Chromosome Location	chr2:97616488-97643975
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:909)
CpG islands
(count:183)
Chromatin interactive
region (count:74)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:909 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:97616979-97617234	K562	blood:	n/a	n/a
2	ARID3A	chr2:97616949-97617173	HepG2	liver:	n/a	n/a
3	ARID3A	chr2:97626247-97626524	HepG2	liver:	n/a	n/a
4	ATF2	chr2:97628201-97628549	GM12878	blood:	n/a	n/a
5	ATF2	chr2:97619855-97620550	GM12878	blood:	n/a	n/a
6	BACH1	chr2:97643257-97643537	H1-hESC	embryonic stem cell:	n/a	n/a
7	BACH1	chr2:97616755-97617176	H1-hESC	embryonic stem cell:	n/a	n/a
8	BATF	chr2:97619898-97620936	GM12878	blood:	n/a	n/a
9	BATF	chr2:97620197-97620581	GM12878	blood:	n/a	n/a
10	BCLAF1	chr2:97626129-97626531	GM12878	blood:	n/a	n/a
11	BHLHE40	chr2:97626089-97626536	K562	blood:	n/a	chr2:97626310-97626326
12	BHLHE40	chr2:97633734-97634071	K562	blood:	n/a	n/a
13	BHLHE40	chr2:97632546-97632657	K562	blood:	n/a	n/a
14	BHLHE40	chr2:97619992-97620538	GM12878	blood:	n/a	n/a
15	BHLHE40	chr2:97616950-97617235	GM12878	blood:	n/a	n/a
16	BHLHE40	chr2:97625503-97625830	K562	blood:	n/a	chr2:97625661-97625670 chr2:97625658-97625671 chr2:97625660-97625669 chr2:97625660-97625669
17	BHLHE40	chr2:97626137-97626500	GM12878	blood:	n/a	chr2:97626310-97626326
18	BHLHE40	chr2:97616862-97617250	HepG2	liver:	n/a	n/a
19	BHLHE40	chr2:97626100-97626511	HepG2	liver:	n/a	chr2:97626310-97626326
20	BHLHE40	chr2:97616758-97617264	K562	blood:	n/a	n/a
21	BHLHE40	chr2:97619795-97619801	K562	blood:	n/a	n/a
22	BRCA1	chr2:97616982-97617415	HepG2	liver:	n/a	n/a
23	BRCA1	chr2:97620001-97620408	GM12878	blood:	n/a	n/a
24	BRCA1	chr2:97616844-97617109	GM12878	blood:	n/a	n/a
25	BRCA1	chr2:97626106-97626408	HepG2	liver:	n/a	n/a
26	CCNT2	chr2:97616972-97617228	K562	blood:	n/a	n/a
27	CCNT2	chr2:97626165-97626433	K562	blood:	n/a	n/a
28	CEBPB	chr2:97617152-97617180	K562	blood:	n/a	n/a
29	CEBPB	chr2:97619123-97619416	IMR90	lung:	n/a	n/a
30	CEBPB	chr2:97619207-97619407	HepG2	liver:	n/a	n/a
31	CEBPB	chr2:97643711-97643923	A549	lung:	n/a	n/a
32	CEBPB	chr2:97643679-97643973	IMR90	lung:	n/a	n/a
33	CEBPB	chr2:97626170-97626445	H1-hESC	embryonic stem cell:	n/a	n/a
34	CEBPB	chr2:97631401-97631515	K562	blood:	n/a	n/a
35	CEBPB	chr2:97619128-97619431	K562	blood:	n/a	n/a
36	CHD1	chr2:97625691-97626599	IMR90	lung:	n/a	n/a
37	CHD2	chr2:97616883-97617222	H1-hESC	embryonic stem cell:	n/a	n/a
38	CHD2	chr2:97620011-97620235	GM12878	blood:	n/a	n/a
39	CHD2	chr2:97626176-97626504	H1-hESC	embryonic stem cell:	n/a	n/a
40	CHD2	chr2:97626187-97626537	K562	blood:	n/a	n/a
41	CHD2	chr2:97628288-97628624	GM12878	blood:	n/a	n/a
42	CHD2	chr2:97616984-97617244	HepG2	liver:	n/a	n/a
43	CHD2	chr2:97626177-97626499	GM12878	blood:	n/a	n/a
44	CHD2	chr2:97616896-97617295	K562	blood:	n/a	n/a
45	CHD2	chr2:97616945-97617190	Hela-S3	cervix:	n/a	n/a
46	CHD2	chr2:97616945-97617241	GM12878	blood:	n/a	n/a
47	CHD2	chr2:97619269-97619298	K562	blood:	n/a	n/a
48	CHD2	chr2:97626141-97626342	HepG2	liver:	n/a	n/a
49	CREB1	chr2:97626189-97626435	A549	lung:	n/a	n/a
50	CREB1	chr2:97617007-97617284	A549	lung:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:97618624-97618674	GM12878	blood:	n/a
2	chr2:97617061-97617111	HNPCEpiC	eye:	n/a
3	chr2:97618624-97618674	HCT-116	colon:	n/a
4	chr2:97617061-97617111	Caco-2	colon:	n/a
5	chr2:97618137-97618187	RPTEC	kidney:	n/a
6	chr2:97618137-97618187	HCT-116	colon:	n/a
7	chr2:97617061-97617111	HCPEpiC	choroid plexus:	n/a
8	chr2:97618624-97618674	NHBE	bronchial:	n/a
9	chr2:97618624-97618674	K562	blood:	n/a
10	chr2:97618624-97618674	Hela-S3	cervix:	n/a
11	chr2:97618137-97618187	Hela-S3	cervix:	n/a
12	chr2:97618624-97618674	AoSMC	blood vessel:	n/a
13	chr2:97617061-97617111	SKMC	muscle:	n/a
14	chr2:97617061-97617111	GM06990	blood:	n/a
15	chr2:97618137-97618187	ECC-1	luminal epithelium:	n/a
16	chr2:97617061-97617111	NHDF-neo	bronchial:	n/a
17	chr2:97618624-97618674	GM12892	blood:	n/a
18	chr2:97618624-97618674	MCF-7	breast:	n/a
19	chr2:97617061-97617111	CMK	blood:	n/a
20	chr2:97617061-97617111	HCF	heart:	n/a
21	chr2:97617061-97617111	SAEC	small airway:	n/a
22	chr2:97618137-97618187	PFSK-1	brain:	n/a
23	chr2:97618137-97618187	T-47D	breast:	n/a
24	chr2:97617061-97617111	ProgFib	skin:	n/a
25	chr2:97618137-97618187	ovcar-3	ovarian:	n/a
26	chr2:97618624-97618674	BJ	skin:	n/a
27	chr2:97618137-97618187	GM12892	blood:	n/a
28	chr2:97617061-97617111	SK-N-SH	brain:	n/a
29	chr2:97618137-97618187	HEK293	kidney:	embryo
30	chr2:97618137-97618187	AG09319	gingival:	n/a
31	chr2:97617061-97617111	HAEpiC	amniotic membrane:	n/a
32	chr2:97617061-97617111	ECC-1	luminal epithelium:	n/a
33	chr2:97617061-97617111	LNCaP	prostate:	n/a
34	chr2:97618624-97618674	U87	brain:	n/a
35	chr2:97618137-97618187	SAEC	small airway:	n/a
36	chr2:97618624-97618674	SKMC	muscle:	n/a
37	chr2:97618137-97618187	Hepatocyte	liver:	n/a
38	chr2:97617061-97617111	AG04450	lung:	fetal
39	chr2:97617061-97617111	AG09319	gingival:	n/a
40	chr2:97617061-97617111	SK-N-MC	brain:	n/a
41	chr2:97617061-97617111	SK-N-SH_RA	brain:	n/a
42	chr2:97618624-97618674	MCF10A-Er-Src	breast:	n/a
43	chr2:97618624-97618674	BE2_C	brain:	n/a
44	chr2:97618624-97618674	AG04449	skin:	fetal
45	chr2:97618624-97618674	NHDF-neo	bronchial:	n/a
46	chr2:97618137-97618187	HCM	heart:	n/a
47	chr2:97618137-97618187	GM12878	blood:	n/a
48	chr2:97617061-97617111	HIPEpiC	eye:	n/a
49	chr2:97618137-97618187	SK-N-MC	brain:	n/a
50	chr2:97618624-97618674	HCPEpiC	choroid plexus:	n/a

(count:74 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr2:97530248..97531059-chr2:97616574..97617127,3	MCF-7	breast:
2	chr2:97521500..97526547-chr2:97614513..97619168,8	K562	blood:
3	chr2:97623151..97625255-chr2:97629201..97631510,2	MCF-7	breast:
4	chr2:97072774..97073298-chr2:97625820..97626695,2	K562	blood:
5	chr2:97529274..97530551-chr2:97616477..97617259,4	MCF-7	breast:
6	chr2:97523891..97526324-chr2:97628583..97631770,4	MCF-7	breast:
7	chr2:97593459..97594414-chr2:97625887..97626638,2	MCF-7	breast:
8	chr2:97503295..97505354-chr2:97640763..97643321,2	MCF-7	breast:
9	chr2:97521500..97526453-chr2:97614513..97620136,8	K562	blood:
10	chr2:97219791..97220688-chr2:97625661..97626293,2	K562	blood:
11	chr2:97523551..97524560-chr2:97625856..97627020,8	MCF-7	breast:
12	chr2:97533928..97536460-chr2:97620435..97623005,3	K562	blood:
13	chr2:97481193..97483827-chr2:97615548..97618256,2	MCF-7	breast:
14	chr2:97557941..97560811-chr2:97624763..97627667,2	MCF-7	breast:
15	chr2:97516728..97547486-chr2:97588377..97628331,265	MCF-7	breast:
16	chr2:97426031..97428759-chr2:97617125..97619977,2	MCF-7	breast:
17	chr2:97480920..97483303-chr2:97630288..97633149,2	MCF-7	breast:
18	chr2:97534314..97535258-chr2:97616618..97617402,4	MCF-7	breast:
19	chr2:97620122..97624045-chr2:97625118..97628656,4	MCF-7	breast:
20	chr2:97632347..97633971-chr2:97643638..97646130,2	MCF-7	breast:
21	chr2:97523486..97525273-chr2:97616574..97617578,17	K562	blood:
22	chr2:97523162..97525107-chr2:97625067..97626676,25	MCF-7	breast:
23	chr2:97630118..97631004-chr2:97725358..97726177,2	MCF-7	breast:
24	chr2:97625836..97626837-chr2:97777734..97778610,3	MCF-7	breast:
25	chr2:97534921..97536780-chr2:97625343..97628032,2	K562	blood:
26	chr2:97558219..97561795-chr2:97617145..97620359,3	K562	blood:
27	chr2:97480973..97483903-chr2:97621623..97628750,6	MCF-7	breast:
28	chr2:97617399..97617905-chr2:97630560..97631215,2	MCF-7	breast:
29	chr2:97623724..97626251-chr2:97633605..97636499,4	K562	blood:
30	chr2:97610586..97615218-chr2:97625029..97628319,5	MCF-7	breast:
31	chr2:97497462..97499468-chr2:97634346..97637151,2	MCF-7	breast:
32	chr2:97480314..97482263-chr2:97624226..97626740,2	K562	blood:
33	chr2:97523071..97525256-chr2:97616476..97617590,33	MCF-7	breast:
34	chr2:97619225..97621126-chr2:97623559..97626363,2	K562	blood:
35	chr2:97534095..97535276-chr2:97625908..97626793,3	MCF-7	breast:
36	chr2:97490026..97490966-chr2:97616219..97617186,2	MCF-7	breast:
37	chr2:97631877..97635109-chr2:97650329..97653813,3	MCF-7	breast:
38	chr2:97583047..97585116-chr2:97623477..97625548,2	K562	blood:
39	chr2:97302399..97305389-chr2:97622198..97624620,2	K562	blood:
40	chr2:97617405..97618002-chr2:97630419..97631215,2	MCF-7	breast:
41	chr2:97557540..97561219-chr2:97615825..97618671,3	MCF-7	breast:
42	chr2:97498723..97500486-chr2:97628918..97630567,2	MCF-7	breast:
43	chr2:97536159..97540837-chr2:97622900..97627821,5	K562	blood:
44	chr2:97623724..97626251-chr2:97633605..97636499,4	K562	blood:
45	chr2:97523449..97525572-chr2:97625486..97626805,16	K562	blood:
46	chr2:97618220..97618797-chr2:97630393..97631020,2	MCF-7	breast:
47	chr2:97619225..97621126-chr2:97623559..97626363,2	K562	blood:
48	chr2:97581932..97582913-chr2:97616904..97617546,3	MCF-7	breast:
49	chr2:97593280..97593975-chr2:97616667..97617312,2	MCF-7	breast:
50	chr2:97623151..97625255-chr2:97629201..97631510,2	MCF-7	breast:

No data

Variant related genes	Relation type
FAM178B	TF binding region
RNA5SP101	TF binding region
FAM178B	CpG island
RNA5SP101	CpG island
ENSG00000168763	chromatin interactions
ENSG00000252845	chromatin interactions
ENSG00000114982	chromatin interactions
ENSG00000204670	chromatin interactions
ENSG00000213337	chromatin interactions
ENSG00000163126	chromatin interactions
ENSG00000168758	chromatin interactions
ENSG00000158158	chromatin interactions
ENSG00000168754	chromatin interactions

Extended variants
information (count: 1052 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:1052 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs143383508	chr2:97616491-97616492	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
2	rs577134655	chr2:97616511-97616512	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs113852971	chr2:97616531-97616532	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs146232303	chr2:97616594-97616595	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
5	rs556793294	chr2:97616630-97616631	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
6	rs186712702	chr2:97616667-97616668	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs542400592	chr2:97616673-97616674	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs144141219	chr2:97616678-97616679	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs200508331	chr2:97616697-97616698	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs1257020	chr2:97616703-97616704	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs529817648	chr2:97616749-97616750	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
12	rs370776460	chr2:97616782-97616783	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
13	rs116495876	chr2:97616845-97616846	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
14	rs113232747	chr2:97616858-97616859	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
15	rs532120216	chr2:97616876-97616877	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
16	rs559901410	chr2:97616887-97616888	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
17	rs552218340	chr2:97616930-97616931	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
18	rs562799664	chr2:97616941-97616942	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
19	rs531464277	chr2:97616974-97616975	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
20	rs547982862	chr2:97616981-97616982	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
21	rs139430796	chr2:97616990-97616991	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
22	rs533437805	chr2:97616998-97616999	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
23	rs115483158	chr2:97617003-97617004	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
24	rs570784377	chr2:97617037-97617038	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
25	rs539817092	chr2:97617101-97617102	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
26	rs370294783	chr2:97617106-97617107	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
27	rs556626550	chr2:97617121-97617122	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
28	rs1257019	chr2:97617140-97617141	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs536109197	chr2:97617144-97617145	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
30	rs371052104	chr2:97617157-97617158	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
31	rs563715003	chr2:97617208-97617209	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
32	rs1257018	chr2:97617227-97617228	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs572645160	chr2:97617237-97617238	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
34	rs540367431	chr2:97617306-97617307	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
35	rs143452011	chr2:97617318-97617319	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
36	rs191873885	chr2:97617395-97617396	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
37	rs184062536	chr2:97617399-97617400	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
38	rs576813043	chr2:97617402-97617403	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
39	rs188215369	chr2:97617439-97617440	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
40	rs149951378	chr2:97617440-97617441	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
41	rs193194309	chr2:97617505-97617506	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
42	rs548043848	chr2:97617544-97617545	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
43	rs368274582	chr2:97617588-97617589	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
44	rs145212575	chr2:97617601-97617602	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
45	rs370252778	chr2:97617620-97617621	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
46	rs184156764	chr2:97617641-97617642	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
47	rs6736365	chr2:97617682-97617683	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs539509228	chr2:97617717-97617718	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
49	rs550152420	chr2:97617744-97617745	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
50	rs569922942	chr2:97617767-97617768	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	17483303	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Ovarian cancer	21781307	CNVD
Lung cancer	18438408	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21509527	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Glioblastoma multiforme	21138945	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-small cell lung cancer	16651412	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:838 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:97610400-97616600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:97610400-97617400	Enhancers	Brain Substantia Nigra	brain
3	chr2:97611000-97616600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr2:97611200-97616800	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr2:97611200-97618000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr2:97612800-97620200	Enhancers	K562	blood
7	chr2:97613200-97616600	Enhancers	Brain Angular Gyrus	brain
8	chr2:97613200-97617400	Enhancers	Brain Anterior Caudate	brain
9	chr2:97614200-97616600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
10	chr2:97614600-97616600	Weak transcription	Esophagus	oesophagus
11	chr2:97614800-97619800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
12	chr2:97615200-97618200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr2:97615400-97617200	Flanking Active TSS	Brain Cingulate Gyrus	brain
14	chr2:97615400-97617400	Bivalent Enhancer	Fetal Stomach	stomach
15	chr2:97615400-97621800	Enhancers	Colonic Mucosa	Colon
16	chr2:97615600-97616600	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr2:97615600-97617000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr2:97615600-97617200	Flanking Active TSS	Brain Hippocampus Middle	brain
19	chr2:97615600-97617200	Bivalent Enhancer	Placenta	Placenta
20	chr2:97615600-97617400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr2:97615600-97617600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr2:97615600-97620800	Enhancers	Fetal Brain Male	brain
23	chr2:97615600-97620800	Enhancers	Ovary	ovary
24	chr2:97615800-97616600	Enhancers	Primary T cells fromperipheralblood	blood
25	chr2:97615800-97617200	Enhancers	Spleen	Spleen
26	chr2:97615800-97617400	Enhancers	Fetal Heart	heart
27	chr2:97615800-97617600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
28	chr2:97615800-97619000	Bivalent Enhancer	Fetal Muscle Leg	muscle
29	chr2:97615800-97620800	Enhancers	Fetal Lung	lung
30	chr2:97616000-97616600	Enhancers	Brain Inferior Temporal Lobe	brain
31	chr2:97616000-97616600	Enhancers	Duodenum Smooth Muscle	Duodenum
32	chr2:97616000-97616600	Enhancers	Fetal Brain Female	brain
33	chr2:97616000-97616600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
34	chr2:97616000-97617200	Enhancers	Right Ventricle	heart
35	chr2:97616000-97617400	Flanking Active TSS	Colon Smooth Muscle	Colon
36	chr2:97616000-97617400	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr2:97616000-97618200	Enhancers	Rectal Smooth Muscle	rectum
38	chr2:97616000-97618400	Enhancers	Fetal Intestine Small	intestine
39	chr2:97616000-97618600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr2:97616000-97618800	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr2:97616000-97620800	Enhancers	Fetal Thymus	thymus
42	chr2:97616200-97616800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr2:97616200-97617000	Enhancers	Brain Germinal Matrix	brain
44	chr2:97616200-97617200	Enhancers	Placenta Amnion	Placenta Amnion
45	chr2:97616200-97617400	Flanking Active TSS	Stomach Smooth Muscle	stomach
46	chr2:97616400-97616600	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr2:97616400-97616600	Flanking Bivalent TSS/Enh	HepG2	liver
48	chr2:97616400-97617000	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr2:97616400-97617000	Enhancers	Fetal Intestine Large	intestine
50	chr2:97616400-97617000	Bivalent Enhancer	Stomach Mucosa	stomach

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