Variant report

Variant	esv3353199
Chromosome Location	chr14:105558957-105560855
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:467)
CpG islands
(count:367)
Chromatin interactive
region (count:8)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:467 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr14:105559991-105560466	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr14:105559035-105559660	H1-hESC	embryonic stem cell:	n/a	n/a
3	BCL3	chr14:105556352-105559650	A549	lung:	n/a	chr14:105559601-105559614 chr14:105558706-105558719 chr14:105559120-105559133
4	BCL3	chr14:105557664-105559598	A549	lung:	n/a	chr14:105558706-105558719 chr14:105559120-105559133
5	BCL3	chr14:105560531-105561070	A549	lung:	n/a	n/a
6	BCL3	chr14:105559887-105560654	A549	lung:	n/a	chr14:105560273-105560282 chr14:105559939-105559948
7	BCL3	chr14:105559836-105560519	A549	lung:	n/a	chr14:105560273-105560282 chr14:105559939-105559948
8	BCLAF1	chr14:105559979-105560337	GM12878	blood:	n/a	chr14:105560273-105560282
9	BHLHE40	chr14:105560076-105560363	GM12878	blood:	n/a	n/a
10	CCNT2	chr14:105560094-105560339	K562	blood:	n/a	n/a
11	CHD1	chr14:105560124-105560321	GM12878	blood:	n/a	n/a
12	CHD2	chr14:105559143-105559743	GM12878	blood:	n/a	n/a
13	CHD2	chr14:105560102-105560619	H1-hESC	embryonic stem cell:	n/a	n/a
14	CHD2	chr14:105559997-105560496	GM12878	blood:	n/a	n/a
15	CREB1	chr14:105559359-105560526	A549	lung:	n/a	n/a
16	CREB1	chr14:105559968-105560511	H1-hESC	embryonic stem cell:	n/a	n/a
17	CREB1	chr14:105558773-105559236	A549	lung:	n/a	n/a
18	CTBP2	chr14:105559929-105560309	H1-hESC	embryonic stem cell:	n/a	n/a
19	CTCF	chr14:105560100-105560250	HCT-116	colon:	n/a	n/a
20	CTCF	chr14:105559040-105559190	WERI-Rb-1	eye:	n/a	chr14:105559118-105559131
21	CTCF	chr14:105560140-105560290	HRPEpiC	eye:	n/a	n/a
22	CTCF	chr14:105560079-105560349	GM10266	blood:	n/a	n/a
23	CTCF	chr14:105559983-105560494	K562	blood:	n/a	chr14:105560394-105560407
24	CTCF	chr14:105560140-105560290	HepG2	liver:	n/a	n/a
25	CTCF	chr14:105560160-105560310	GM12868	blood:	n/a	n/a
26	CTCF	chr14:105560080-105560230	NHEK	skin:	n/a	n/a
27	CTCF	chr14:105560140-105560290	HVMF	connective:	n/a	n/a
28	CTCF	chr14:105559935-105559940	GM12891	blood:	n/a	n/a
29	CTCF	chr14:105560040-105560190	WI-38	lung:	n/a	n/a
30	CTCF	chr14:105560160-105560310	GM12873	blood:	n/a	n/a
31	CTCF	chr14:105560120-105560270	GM12869	blood:	n/a	n/a
32	CTCF	chr14:105560116-105560269	Hela-S3	cervix:	n/a	n/a
33	CTCF	chr14:105560160-105560310	GM12874	blood:	n/a	n/a
34	CTCF	chr14:105560089-105560312	HepG2	liver:	n/a	n/a
35	CTCF	chr14:105560160-105560310	NHEK	skin:	n/a	n/a
36	CTCF	chr14:105560134-105560273	MCF-7	breast:	n/a	n/a
37	CTCF	chr14:105560120-105560270	GM12873	blood:	n/a	n/a
38	CTCF	chr14:105560120-105560270	GM06990	blood:	n/a	n/a
39	CTCF	chr14:105559989-105560369	K562	blood:	n/a	n/a
40	CTCF	chr14:105560076-105560306	Fibrobl	skin:	n/a	n/a
41	CTCF	chr14:105560100-105560250	GM12867	blood:	n/a	n/a
42	CTCF	chr14:105560120-105560270	GM12866	blood:	n/a	n/a
43	CTCF	chr14:105560100-105560250	GM12865	blood:	n/a	n/a
44	CTCF	chr14:105560078-105560322	A549	lung:	n/a	n/a
45	CTCF	chr14:105560120-105560270	GM12865	blood:	n/a	n/a
46	CTCF	chr14:105560100-105560250	AG09319	gingival:	n/a	n/a
47	CTCF	chr14:105560059-105560306	A549	lung:	n/a	n/a
48	CTCF	chr14:105560100-105560250	HEK293	kidney:	n/a	n/a
49	CTCF	chr14:105560120-105560270	HEEpiC	esophagus:	n/a	n/a
50	CTCF	chr14:105559954-105560429	H1-hESC	embryonic stem cell:	n/a	chr14:105560394-105560407

(count:367 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:105560199-105560249	HEEpiC	esophagus:	n/a
2	chr14:105560199-105560249	HEEpiC	esophagus:	n/a
3	chr14:105559554-105559604	ECC-1	luminal epithelium:	n/a
4	chr14:105559554-105559604	GM12878	blood:	n/a
5	chr14:105560008-105560058	HPAEpiC	pulmonary alveolar:	n/a
6	chr14:105559493-105559543	HL-60	blood:	n/a
7	chr14:105559554-105559604	A549	lung:	n/a
8	chr14:105560199-105560249	GM12892	blood:	n/a
9	chr14:105560008-105560058	HNPCEpiC	eye:	n/a
10	chr14:105559554-105559604	AG09309	skin:	n/a
11	chr14:105560008-105560058	NB4	blood:	n/a
12	chr14:105560628-105560678	AG10803	skin:	n/a
13	chr14:105559493-105559543	AG10803	skin:	n/a
14	chr14:105560199-105560249	MCF-7	breast:	n/a
15	chr14:105559493-105559543	HCM	heart:	n/a
16	chr14:105560008-105560058	HCPEpiC	choroid plexus:	n/a
17	chr14:105559493-105559543	Jurkat	blood:	n/a
18	chr14:105559493-105559543	GM19239	blood:	n/a
19	chr14:105559554-105559604	PrEC	prostate:	n/a
20	chr14:105560110-105560160	HRCEpiC	kidney:	n/a
21	chr14:105559493-105559543	AoSMC	blood vessel:	n/a
22	chr14:105560008-105560058	Caco-2	colon:	n/a
23	chr14:105560110-105560160	SK-N-MC	brain:	n/a
24	chr14:105560199-105560249	HCM	heart:	n/a
25	chr14:105559493-105559543	HCF	heart:	n/a
26	chr14:105560110-105560160	Caco-2	colon:	n/a
27	chr14:105560008-105560058	NH-A	brain:	n/a
28	chr14:105560110-105560160	Hela-S3	cervix:	n/a
29	chr14:105560008-105560058	HL-60	blood:	n/a
30	chr14:105560628-105560678	HCT-116	colon:	n/a
31	chr14:105560628-105560678	SAEC	small airway:	n/a
32	chr14:105560110-105560160	AG04449	skin:	fetal
33	chr14:105559493-105559543	Caco-2	colon:	n/a
34	chr14:105559554-105559604	RPTEC	kidney:	n/a
35	chr14:105560110-105560160	HCM	heart:	n/a
36	chr14:105560008-105560058	HepG2	liver:	n/a
37	chr14:105559554-105559604	AG10803	skin:	n/a
38	chr14:105560628-105560678	Jurkat	blood:	n/a
39	chr14:105559554-105559604	GM06990	blood:	n/a
40	chr14:105559554-105559604	HPAEpiC	pulmonary alveolar:	n/a
41	chr14:105559493-105559543	H1-hESC	embryonic stem cell:	embryo
42	chr14:105560110-105560160	GM19239	blood:	n/a
43	chr14:105559493-105559543	NB4	blood:	n/a
44	chr14:105560199-105560249	AoSMC	blood vessel:	n/a
45	chr14:105559554-105559604	HNPCEpiC	eye:	n/a
46	chr14:105560199-105560249	H1-hESC	embryonic stem cell:	embryo
47	chr14:105560199-105560249	BE2_C	brain:	n/a
48	chr14:105560199-105560249	SK-N-SH_RA	brain:	n/a
49	chr14:105560628-105560678	AG04450	lung:	fetal
50	chr14:105560008-105560058	HRCEpiC	kidney:	n/a

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:105541940..105543448-chr14:105558104..105559608,2	K562	blood:
2	chr14:105555328..105560254-chr14:105631379..105635555,5	MCF-7	breast:
3	chr14:105433754..105435630-chr14:105557991..105559597,2	MCF-7	breast:
4	chr14:105559128..105559804-chr4:53578465..53579113,2	HCT-116	colon:
5	chr14:105478025..105480499-chr14:105557134..105559367,2	MCF-7	breast:
6	chr14:105444294..105445839-chr14:105557247..105559531,2	MCF-7	breast:
7	chr14:105557263..105559202-chr14:105649515..105651192,2	MCF-7	breast:
8	chr14:105556660..105559437-chr14:105588253..105590015,2	MCF-7	breast:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C14orf79-2	chr14:105559108-105559211	NONHSAT040321
2	lnc-C14orf79-2	chr14:105559831-105560057	XLOC_010952
3	lnc-C14orf79-2	chr14:105559946-105560157	ENSG00000257556
4	lnc-C14orf79-2	chr14:105560484-105560553	NR_110546

No data

Variant related genes	Relation type
ENSG00000257556	TF binding region
ENSG00000257556	CpG island
ENSG00000226950	chromatin interactions
ENSG00000184916	chromatin interactions
ENSG00000264585	chromatin interactions
ENSG00000185567	chromatin interactions
PDCD4	miRNA target sites

Extended variants
information (count: 68 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:68 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368430447	chr14:105559058-105559059	Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs138900515	chr14:105559074-105559075	Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs117791823	chr14:105559077-105559078	Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs28450433	chr14:105559097-105559098	Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs587627157	chr14:105559121-105559122	Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
6	rs587638733	chr14:105559150-105559151	Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
7	rs587686461	chr14:105559166-105559167	Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
8	rs587738523	chr14:105559229-105559230	Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs587622247	chr14:105559237-105559238	Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs587700250	chr14:105559242-105559243	Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs587766105	chr14:105559274-105559275	Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs144085357	chr14:105559299-105559300	Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs202128835	chr14:105559300-105559301	Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs587693149	chr14:105559301-105559302	Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs375688569	chr14:105559362-105559363	Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs376608490	chr14:105559399-105559400	Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs587753179	chr14:105559414-105559415	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs587679144	chr14:105559442-105559443	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs55849896	chr14:105559489-105559490	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs587704777	chr14:105559498-105559499	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs142113864	chr14:105559520-105559521	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs183123425	chr14:105559530-105559531	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs114528103	chr14:105559571-105559572	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs587731085	chr14:105559584-105559585	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs34364862	chr14:105559610-105559611	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs35883319	chr14:105559649-105559650	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs587678318	chr14:105559680-105559681	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs587728063	chr14:105559681-105559682	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs587609019	chr14:105559717-105559718	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs587659698	chr14:105559745-105559746	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs587746816	chr14:105559907-105559908	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
32	rs587628467	chr14:105559918-105559919	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
33	rs34475818	chr14:105560004-105560005	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
34	rs587661405	chr14:105560019-105560020	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
35	rs146333923	chr14:105560026-105560027	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
36	rs587730050	chr14:105560039-105560040	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
37	rs187459613	chr14:105560040-105560041	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
38	rs587692275	chr14:105560046-105560047	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
39	rs587744658	chr14:105560067-105560068	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
40	rs10135442	chr14:105560091-105560092	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs192635660	chr14:105560170-105560171	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs587775706	chr14:105560222-105560223	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs367863436	chr14:105560263-105560264	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs115993664	chr14:105560267-105560268	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs587746075	chr14:105560276-105560277	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs371768768	chr14:105560304-105560305	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs112841926	chr14:105560308-105560309	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs587645576	chr14:105560336-105560337	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs372415819	chr14:105560343-105560344	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs587775782	chr14:105560358-105560359	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:107)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	CNVD
Non-small cell lung cancer	21044232	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	17899364	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Chronic myeloid leukemia	20724749	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Neuroblastoma	18923191	CNVD
Barrett''s syndrome	19417022	CNVD
cataract	16735990	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Developmental delay	21147756	CNVD
Cancer	20164920	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Biliary cancer	19435499	CNVD
Follicular lymphoma	20505157	CNVD
Acute lymphoblastic leukemia	20139093	CNVD
Hepatocellular carcinoma	16750200	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Glioblastoma multiforme	21922591	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Ovarian cancer	22174824	CNVD
Non-small cell lung cancer	18320023	CNVD
Melanoma	17363583	CNVD
Prostate cancer	18632612	CNVD
Congenital heart defect	22367666	CNVD
Developmental delay	22367666	CNVD
Genitourinary abnormalities	22367666	CNVD
Intellectual disability	22367666	CNVD
Microcephaly	22367666	CNVD
Muscularhypotonia	22367666	CNVD
Ocular coloboma	22367666	CNVD
Teratozoospermia	22367666	CNVD
Cervical cancer	21062161	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	21990379	CNVD
Breast cancer	16417655	CNVD
22q11 deletion syndrome	22511897	CNVD
Cancer	21129771	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Schizophrenia	21399695	CNVD
Intracranial ependymoma	16609018	CNVD
Lung adenocarcinoma	17086460	CNVD
Gastric adenocarcinoma	19115996	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
14q deletion syndrome	22511897	CNVD
Epilepsy	22083797	CNVD
Ovarian cancer	21720365	CNVD
Cancer	17440070	CNVD
Neurocytoma	17123091	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Central neurocytomas	17123091	CNVD
Acute lymphoblastic leukemia	17315016	CNVD
Lung cancer	17086460	CNVD
Mortal	21835882	CNVD
small cell lung cancer	17426248	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Schizophrenia	20967226	CNVD
early-passage human iPS cells	21368824	CNVD
Williams Syndrome	20824207	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD
Schizophrenia	23813976	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164919	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Recurrent pregnancy loss	19789632	CNVD
Aortic dissecting aneurysms	22263138	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD

Chromatin state (count:519 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105551600-105559000	Enhancers	Placenta	Placenta
2	chr14:105554000-105559000	Enhancers	Gastric	stomach
3	chr14:105554200-105559000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr14:105554200-105559000	Enhancers	Pancreas	Pancrea
5	chr14:105554600-105559200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
6	chr14:105554800-105559200	Weak transcription	Primary hematopoietic stem cells	blood
7	chr14:105555400-105559200	Weak transcription	Ovary	ovary
8	chr14:105555600-105559000	Enhancers	Fetal Muscle Leg	muscle
9	chr14:105555800-105559000	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr14:105556000-105559000	Enhancers	Placenta Amnion	Placenta Amnion
11	chr14:105556400-105559200	Enhancers	Sigmoid Colon	Sigmoid Colon
12	chr14:105556400-105559600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr14:105556400-105559800	Enhancers	Spleen	Spleen
14	chr14:105556600-105559000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr14:105556600-105559000	Enhancers	Adipose Nuclei	Adipose
16	chr14:105556600-105559000	Enhancers	Esophagus	oesophagus
17	chr14:105556600-105559000	Enhancers	Fetal Lung	lung
18	chr14:105556600-105559000	Enhancers	Left Ventricle	heart
19	chr14:105556600-105559000	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr14:105556600-105559200	Enhancers	Right Ventricle	heart
21	chr14:105556600-105559800	Enhancers	Fetal Heart	heart
22	chr14:105556800-105559000	Weak transcription	Primary B cells from cord blood	blood
23	chr14:105556800-105559000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr14:105556800-105559200	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr14:105556800-105559200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr14:105556800-105559200	Enhancers	HSMM	muscle
27	chr14:105556800-105560000	Enhancers	Liver	Liver
28	chr14:105557000-105559400	Enhancers	Brain Anterior Caudate	brain
29	chr14:105557000-105559600	Flanking Active TSS	Stomach Smooth Muscle	stomach
30	chr14:105557200-105559000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr14:105557200-105559000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr14:105557200-105559000	Weak transcription	Primary B cells from peripheral blood	blood
33	chr14:105557200-105559000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
34	chr14:105557200-105559000	Enhancers	NH-A	brain
35	chr14:105557200-105559200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr14:105557200-105559200	Enhancers	HUVEC	blood vessel
37	chr14:105557200-105559400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr14:105557200-105559400	Enhancers	HSMMtube	muscle
39	chr14:105557400-105559000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr14:105557400-105559200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr14:105557400-105559200	Enhancers	Brain Inferior Temporal Lobe	brain
42	chr14:105557400-105559200	Weak transcription	GM12878-XiMat	blood
43	chr14:105557400-105559400	Flanking Active TSS	Hela-S3	cervix
44	chr14:105557400-105559600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr14:105557400-105559800	Enhancers	Fetal Brain Male	brain
46	chr14:105557600-105559000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr14:105557600-105559600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr14:105557800-105559000	Enhancers	Fetal Stomach	stomach
49	chr14:105557800-105559200	Enhancers	Right Atrium	heart
50	chr14:105557800-105559200	Enhancers	NHDF-Ad	bronchial

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