Variant report

Variant	esv3435324
Chromosome Location	chr2:98279520-98282118
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:910)
CpG islands
(count:855)
Chromatin interactive
region (count:22)
LncRNA
region (count:10)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:910 , 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	chr2:98280287-98281263	HepG2	liver:	n/a	n/a
2	ARID3A	chr2:98279289-98279760	K562	blood:	n/a	n/a
3	ARID3A	chr2:98280670-98281349	K562	blood:	n/a	n/a
4	ATF1	chr2:98280300-98281554	K562	blood:	n/a	n/a
5	ATF1	chr2:98279212-98279987	K562	blood:	n/a	n/a
6	ATF2	chr2:98280417-98281246	GM12878	blood:	n/a	n/a
7	ATF2	chr2:98280443-98281339	GM12878	blood:	n/a	n/a
8	ATF2	chr2:98280464-98281162	H1-hESC	embryonic stem cell:	n/a	n/a
9	ATF2	chr2:98279119-98280011	GM12878	blood:	n/a	n/a
10	ATF2	chr2:98280422-98281058	H1-hESC	embryonic stem cell:	n/a	n/a
11	ATF2	chr2:98279062-98279869	GM12878	blood:	n/a	n/a
12	ATF3	chr2:98280398-98280901	K562	blood:	n/a	chr2:98280585-98280594
13	ATF3	chr2:98280528-98280838	HepG2	liver:	n/a	chr2:98280585-98280594
14	ATF3	chr2:98280452-98280916	A549	lung:	n/a	chr2:98280585-98280594
15	ATF3	chr2:98280536-98280768	K562	blood:	n/a	chr2:98280585-98280594
16	ATF3	chr2:98280487-98280935	A549	lung:	n/a	chr2:98280585-98280594
17	BACH1	chr2:98280191-98280246	H1-hESC	embryonic stem cell:	n/a	n/a
18	BACH1	chr2:98279768-98279968	H1-hESC	embryonic stem cell:	n/a	n/a
19	BACH1	chr2:98280652-98281070	H1-hESC	embryonic stem cell:	n/a	n/a
20	BATF	chr2:98279231-98279684	GM12878	blood:	n/a	chr2:98279469-98279480 chr2:98279470-98279480
21	BATF	chr2:98279142-98279752	GM12878	blood:	n/a	chr2:98279469-98279480 chr2:98279470-98279480
22	BCL11A	chr2:98279225-98279520	GM12878	blood:	n/a	chr2:98279469-98279478
23	BCL11A	chr2:98279151-98279634	GM12878	blood:	n/a	chr2:98279469-98279478
24	BCLAF1	chr2:98279107-98280050	GM12878	blood:	n/a	chr2:98279469-98279478
25	BCLAF1	chr2:98280576-98281224	GM12878	blood:	n/a	n/a
26	BCLAF1	chr2:98279228-98280247	GM12878	blood:	n/a	chr2:98279469-98279478
27	BHLHE40	chr2:98279195-98281292	K562	blood:	n/a	chr2:98280437-98280453 chr2:98280556-98280572
28	BHLHE40	chr2:98279812-98281064	HepG2	liver:	n/a	chr2:98280437-98280453 chr2:98280556-98280572
29	BHLHE40	chr2:98279284-98281128	GM12878	blood:	n/a	chr2:98280437-98280453 chr2:98280556-98280572
30	BRCA1	chr2:98280474-98280885	HepG2	liver:	n/a	n/a
31	BRCA1	chr2:98279641-98279994	HepG2	liver:	n/a	n/a
32	BRCA1	chr2:98280586-98280844	GM12878	blood:	n/a	n/a
33	BRCA1	chr2:98280468-98281274	Hela-S3	cervix:	n/a	n/a
34	BRCA1	chr2:98279695-98279964	H1-hESC	embryonic stem cell:	n/a	n/a
35	BRCA1	chr2:98279649-98279849	GM12878	blood:	n/a	n/a
36	BRCA1	chr2:98279291-98280233	Hela-S3	cervix:	n/a	n/a
37	CBX3	chr2:98280479-98281305	K562	blood:	n/a	n/a
38	CBX3	chr2:98279099-98280143	K562	blood:	n/a	n/a
39	CCNT2	chr2:98279356-98281039	K562	blood:	n/a	chr2:98280585-98280594 chr2:98280079-98280088
40	CEBPB	chr2:98280502-98281310	HepG2	liver:	n/a	n/a
41	CEBPB	chr2:98279163-98280025	GM12878	blood:	n/a	n/a
42	CEBPB	chr2:98280510-98281490	K562	blood:	n/a	n/a
43	CEBPB	chr2:98279232-98281470	Hela-S3	cervix:	n/a	n/a
44	CEBPB	chr2:98280553-98280718	HepG2	liver:	n/a	n/a
45	CEBPB	chr2:98280524-98280850	K562	blood:	n/a	n/a
46	CEBPB	chr2:98280544-98280858	H1-hESC	embryonic stem cell:	n/a	n/a
47	CEBPB	chr2:98280424-98280920	MCF-7	breast:	n/a	n/a
48	CEBPB	chr2:98279572-98279998	K562	blood:	n/a	n/a
49	CEBPB	chr2:98279297-98281414	IMR90	lung:	n/a	n/a
50	CEBPB	chr2:98280566-98281286	A549	lung:	n/a	n/a

(count:855 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:98280362-98280412	GM12878	blood:	n/a
2	chr2:98280362-98280412	GM12878	blood:	n/a
3	chr2:98280367-98280417	BJ	skin:	n/a
4	chr2:98280644-98280694	PFSK-1	brain:	n/a
5	chr2:98280644-98280694	GM12891	blood:	n/a
6	chr2:98280745-98280795	AG04449	skin:	fetal
7	chr2:98280854-98280904	HRCEpiC	kidney:	n/a
8	chr2:98280713-98280763	Hela-S3	cervix:	n/a
9	chr2:98280810-98280860	PrEC	prostate:	n/a
10	chr2:98280523-98280573	SAEC	small airway:	n/a
11	chr2:98280367-98280417	AG09309	skin:	n/a
12	chr2:98280644-98280694	NHBE	bronchial:	n/a
13	chr2:98280367-98280417	HRPEpiC	eye:	n/a
14	chr2:98280523-98280573	U87	brain:	n/a
15	chr2:98281400-98281450	ECC-1	luminal epithelium:	n/a
16	chr2:98280029-98280079	HCF	heart:	n/a
17	chr2:98280628-98280678	NB4	blood:	n/a
18	chr2:98280745-98280795	HCPEpiC	choroid plexus:	n/a
19	chr2:98280362-98280412	HCPEpiC	choroid plexus:	n/a
20	chr2:98280367-98280417	NHDF-neo	bronchial:	n/a
21	chr2:98280693-98280743	T-47D	breast:	n/a
22	chr2:98280367-98280417	Hepatocyte	liver:	n/a
23	chr2:98280628-98280678	SAEC	small airway:	n/a
24	chr2:98280029-98280079	HUVEC	blood vessel:	n/a
25	chr2:98280713-98280763	A549	lung:	n/a
26	chr2:98280693-98280743	Hela-S3	cervix:	n/a
27	chr2:98280644-98280694	HRE	kidney:	n/a
28	chr2:98280523-98280573	NT2-D1	testis:	n/a
29	chr2:98280693-98280743	HUVEC	blood vessel:	n/a
30	chr2:98280854-98280904	NH-A	brain:	n/a
31	chr2:98280523-98280573	SK-N-SH	brain:	n/a
32	chr2:98280628-98280678	K562	blood:	n/a
33	chr2:98280713-98280763	HEEpiC	esophagus:	n/a
34	chr2:98280810-98280860	GM12891	blood:	n/a
35	chr2:98280810-98280860	RPTEC	kidney:	n/a
36	chr2:98280523-98280573	Jurkat	blood:	n/a
37	chr2:98281400-98281450	NHDF-neo	bronchial:	n/a
38	chr2:98280367-98280417	RPTEC	kidney:	n/a
39	chr2:98280523-98280573	HAEpiC	amniotic membrane:	n/a
40	chr2:98280745-98280795	SK-N-SH	brain:	n/a
41	chr2:98280523-98280573	AG04450	lung:	fetal
42	chr2:98280628-98280678	AG09309	skin:	n/a
43	chr2:98280810-98280860	ovcar-3	ovarian:	n/a
44	chr2:98280745-98280795	ovcar-3	ovarian:	n/a
45	chr2:98280854-98280904	GM19239	blood:	n/a
46	chr2:98280693-98280743	Hepatocyte	liver:	n/a
47	chr2:98280810-98280860	SK-N-MC	brain:	n/a
48	chr2:98280362-98280412	GM06990	blood:	n/a
49	chr2:98280854-98280904	K562	blood:	n/a
50	chr2:98280628-98280678	LNCaP	prostate:	n/a

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:45400778..45401757-chr2:98279614..98280188,2	Hela-S3	cervix:
2	chr2:98277787..98279697-chr2:98287927..98289913,2	MCF-7	breast:
3	chr2:98280397..98281205-chr6:170151172..170151729,2	Hela-S3	cervix:
4	chr2:98279912..98282586-chr2:98290130..98292098,3	K562	blood:
5	chr2:98278667..98281978-chr2:98283382..98286512,4	K562	blood:
6	chr16:30546029..30546868-chr2:98279946..98280837,2	Hela-S3	cervix:
7	chr12:120730616..120731276-chr2:98281104..98281615,2	NB4	blood:
8	chr2:98279581..98281603-chr2:98351078..98353477,2	K562	blood:
9	chr2:98280019..98280550-chr5:43556723..43557699,2	Hela-S3	cervix:
10	chr2:98206110..98207769-chr2:98279652..98281540,2	K562	blood:
11	chr2:98279825..98280513-chr7:32982049..32982668,2	Hela-S3	cervix:
12	chr2:98277235..98279650-chr2:98312622..98314344,2	K562	blood:
13	chr2:98277609..98280060-chr2:98302722..98304227,2	MCF-7	breast:
14	chr2:98278220..98280235-chr2:98364964..98367550,2	K562	blood:
15	chr12:52444633..52445269-chr2:98280481..98281231,2	Hela-S3	cervix:
16	chr1:205512157..205513071-chr2:98279668..98280363,2	Hela-S3	cervix:
17	chr2:98279098..98281561-chr2:98304916..98307735,3	MCF-7	breast:
18	chr17:37360262..37360780-chr2:98280277..98281092,2	Hela-S3	cervix:
19	chr2:98279513..98282179-chr2:98292256..98296228,3	MCF-7	breast:
20	chr2:98278665..98281371-chr2:98305087..98308005,4	MCF-7	breast:
21	chr2:98279310..98282281-chr2:98310556..98313961,3	MCF-7	breast:
22	chr2:98205848..98207835-chr2:98279004..98283186,3	MCF-7	breast:

(count:10 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZAP70-2	chr2:98280680-98280935	ENSG00000228486.2
2	lnc-ZAP70-2	chr2:98280724-98280935	ENSG00000228486.5
3	lnc-ZAP70-2	chr2:98280735-98280935	ENSG00000228486.5
4	lnc-ZAP70-2	chr2:98280748-98282910	NONHSAT072664
5	lnc-ZAP70-2	chr2:98280702-98280935	ENSG00000228486.5
6	lnc-ZAP70-2	chr2:98280710-98280935	ENSG00000228486.5
7	lnc-ZAP70-2	chr2:98280702-98280935	ENSG00000228486.5
8	lnc-ZAP70-2	chr2:98280710-98280935	ENSG00000228486.5
9	lnc-ZAP70-2	chr2:98280702-98280935	ENSG00000228486.5
10	lnc-ZAP70-2	chr2:98280724-98280935	ENSG00000228486.5

No data

Variant related genes	Relation type
RNU4-8P	TF binding region
LINC01125	TF binding region
ACTR1B	TF binding region
RNU4-8P	CpG island
LINC01125	CpG island
ACTR1B	CpG island
ENSG00000261459	chromatin interactions
ENSG00000235560	chromatin interactions
ENSG00000196912	chromatin interactions
ENSG00000169955	chromatin interactions
ENSG00000108298	chromatin interactions
ENSG00000184786	chromatin interactions
ENSG00000178852	chromatin interactions
ENSG00000123358	chromatin interactions
ENSG00000115085	chromatin interactions
ENSG00000172239	chromatin interactions
ENSG00000228486	chromatin interactions
ENSG00000263293	chromatin interactions
ENSG00000130023	chromatin interactions
ENSG00000205763	chromatin interactions
ENSG00000200795	chromatin interactions

Extended variants
information (count: 78 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:78 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34738076	chr2:98279528-98279529	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs139143943	chr2:98279540-98279541	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs76032414	chr2:98279541-98279542	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs11886239	chr2:98279574-98279575	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs546033881	chr2:98279594-98279595	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs186583725	chr2:98279659-98279660	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
7	rs191887326	chr2:98279717-98279718	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
8	rs74610701	chr2:98279764-98279765	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
9	rs369548616	chr2:98279895-98279896	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
10	rs117085417	chr2:98279920-98279921	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
11	rs557939138	chr2:98279929-98279930	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
12	rs369516486	chr2:98279935-98279936	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
13	rs543621653	chr2:98279946-98279947	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
14	rs182434729	chr2:98280003-98280004	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
15	rs187080155	chr2:98280015-98280016	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
16	rs371333116	chr2:98280029-98280030	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
17	rs55772322	chr2:98280055-98280056	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs559740243	chr2:98280076-98280077	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
19	rs549878206	chr2:98280100-98280101	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
20	rs562818351	chr2:98280126-98280127	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
21	rs551853385	chr2:98280141-98280142	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
22	rs111433168	chr2:98280156-98280157	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
23	rs571792204	chr2:98280182-98280183	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
24	rs372922153	chr2:98280358-98280359	Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
25	rs375956878	chr2:98280375-98280376	Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
26	rs112904064	chr2:98280400-98280401	Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
27	rs550034983	chr2:98280413-98280414	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
28	rs569847930	chr2:98280427-98280428	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
29	rs535781513	chr2:98280432-98280433	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
30	rs555382367	chr2:98280435-98280436	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
31	rs369043931	chr2:98280471-98280472	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
32	rs574819907	chr2:98280479-98280480	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
33	rs182297241	chr2:98280488-98280489	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
34	rs534336795	chr2:98280497-98280498	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
35	rs557396083	chr2:98280510-98280511	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
36	rs372998879	chr2:98280515-98280516	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
37	rs113861409	chr2:98280571-98280572	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
38	rs577350640	chr2:98280575-98280576	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
39	rs189051742	chr2:98280638-98280639	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
40	rs376102043	chr2:98280649-98280650	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
41	rs543585455	chr2:98280666-98280667	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
42	rs557582568	chr2:98280750-98280751	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
43	rs574245699	chr2:98280787-98280788	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
44	rs543268397	chr2:98280912-98280913	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
45	rs559799822	chr2:98280968-98280969	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
46	rs141392966	chr2:98280973-98280974	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
47	rs545435737	chr2:98280982-98280983	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
48	rs565363398	chr2:98281023-98281024	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
49	rs150399844	chr2:98281208-98281209	Active TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
50	rs36216560	chr2:98281210-98281211	Active TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:52)

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
Tetralogy of Fallot	22912587	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:406 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:98277800-98279600	Enhancers	Spleen	Spleen
2	chr2:98277800-98279800	Flanking Active TSS	Brain Angular Gyrus	brain
3	chr2:98278000-98279800	Flanking Active TSS	Brain Anterior Caudate	brain
4	chr2:98278000-98279800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
5	chr2:98278000-98279800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
6	chr2:98278200-98280000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
7	chr2:98278200-98280000	Flanking Active TSS	Brain Cingulate Gyrus	brain
8	chr2:98278400-98279600	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr2:98278400-98279800	Flanking Active TSS	K562	blood
10	chr2:98278400-98280200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr2:98278600-98279600	Flanking Active TSS	Brain Hippocampus Middle	brain
12	chr2:98278600-98279600	Enhancers	Placenta Amnion	Placenta Amnion
13	chr2:98278600-98279800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
14	chr2:98278600-98279800	Flanking Active TSS	Duodenum Mucosa	Duodenum
15	chr2:98278600-98279800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
16	chr2:98278600-98279800	Flanking Active TSS	Thymus	Thymus
17	chr2:98278600-98279800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
18	chr2:98278600-98280000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
19	chr2:98278600-98280000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
20	chr2:98278600-98280000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr2:98278600-98280000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
22	chr2:98278600-98280000	Flanking Active TSS	Colonic Mucosa	Colon
23	chr2:98278600-98280000	Flanking Active TSS	Stomach Smooth Muscle	stomach
24	chr2:98278600-98280000	Flanking Active TSS	NH-A	brain
25	chr2:98278600-98281600	Active TSS	H9 Cell Line	embryonic stem cell
26	chr2:98278800-98279600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr2:98278800-98279600	Flanking Active TSS	Fetal Heart	heart
28	chr2:98278800-98279600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
29	chr2:98278800-98279600	Flanking Active TSS	A549	lung
30	chr2:98278800-98279600	Flanking Active TSS	Dnd41	blood
31	chr2:98278800-98279800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr2:98278800-98279800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr2:98278800-98279800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr2:98278800-98279800	Flanking Active TSS	Brain Germinal Matrix	brain
35	chr2:98278800-98279800	Flanking Active TSS	Osteobl	bone
36	chr2:98278800-98280000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
37	chr2:98278800-98280000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
38	chr2:98278800-98280000	Flanking Active TSS	Primary hematopoietic stem cells	blood
39	chr2:98278800-98280000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
40	chr2:98278800-98280000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
41	chr2:98278800-98280000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
42	chr2:98278800-98280000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr2:98278800-98280000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
44	chr2:98278800-98280000	Flanking Active TSS	Adipose Nuclei	Adipose
45	chr2:98278800-98280000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
46	chr2:98278800-98280000	Flanking Active TSS	HMEC	breast
47	chr2:98278800-98280000	Flanking Active TSS	HSMMtube	muscle
48	chr2:98278800-98281400	Active TSS	Pancreatic Islets	Pancreatic Islet
49	chr2:98279000-98279600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
50	chr2:98279000-98279600	Flanking Active TSS	Fetal Intestine Large	intestine

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