Variant report

Variant	esv3407787
Chromosome Location	chr13:95362576-95365124
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:224)
CpG islands
(count:1159)
Chromatin interactive
region (count:5)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:224 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr13:95364963-95365163	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr13:95363239-95363779	H1-hESC	embryonic stem cell:	n/a	n/a
3	BHLHE40	chr13:95363443-95364180	K562	blood:	n/a	n/a
4	BRCA1	chr13:95363287-95363527	H1-hESC	embryonic stem cell:	n/a	n/a
5	CCNT2	chr13:95363432-95363803	K562	blood:	n/a	n/a
6	CEBPB	chr13:95362298-95362584	A549	lung:	n/a	n/a
7	CHD1	chr13:95364035-95364316	H1-hESC	embryonic stem cell:	n/a	n/a
8	CHD1	chr13:95364549-95365677	H1-hESC	embryonic stem cell:	n/a	n/a
9	CHD1	chr13:95362173-95363002	H1-hESC	embryonic stem cell:	n/a	n/a
10	CHD1	chr13:95363253-95363620	H1-hESC	embryonic stem cell:	n/a	n/a
11	CHD2	chr13:95363234-95363250	H1-hESC	embryonic stem cell:	n/a	n/a
12	CREB1	chr13:95363413-95363668	A549	lung:	n/a	n/a
13	CTBP2	chr13:95363183-95366208	H1-hESC	embryonic stem cell:	n/a	n/a
14	CTCF	chr13:95363460-95363610	GM12864	blood:	n/a	n/a
15	CTCF	chr13:95363500-95363650	HMF	breast:	n/a	n/a
16	CTCF	chr13:95363600-95363750	GM12875	blood:	n/a	n/a
17	CTCF	chr13:95363500-95363650	HUVEC	blood vessel:	n/a	n/a
18	CTCF	chr13:95363540-95363690	HMEC	breast:	n/a	n/a
19	CTCF	chr13:95363240-95363390	GM12867	blood:	n/a	n/a
20	CTCF	chr13:95364540-95364690	HUVEC	blood vessel:	n/a	n/a
21	CTCF	chr13:95363557-95363725	K562	blood:	n/a	n/a
22	CTCF	chr13:95363480-95363630	GM12875	blood:	n/a	n/a
23	CTCF	chr13:95363602-95363747	GM10248	blood:	n/a	n/a
24	CTCF	chr13:95363580-95363730	AG04449	skin:	n/a	n/a
25	CTCF	chr13:95363533-95363772	GM12892	blood:	n/a	n/a
26	CTCF	chr13:95363520-95363670	HPAF	blood vessel:	n/a	n/a
27	CTCF	chr13:95363303-95363306	GM12892	blood:	n/a	n/a
28	CTCF	chr13:95363571-95363753	ProgFib	skin:	n/a	n/a
29	CTCF	chr13:95363500-95363650	BE2_C	brain:	n/a	n/a
30	CTCF	chr13:95363480-95363630	WERI-Rb-1	eye:	n/a	n/a
31	CTCF	chr13:95363600-95363750	AG04450	lung:	n/a	n/a
32	CTCF	chr13:95363480-95363630	NHEK	skin:	n/a	n/a
33	CTCF	chr13:95363523-95363737	HepG2	liver:	n/a	n/a
34	CTCF	chr13:95363540-95363690	GM12867	blood:	n/a	n/a
35	CTCF	chr13:95363374-95363388	GM10248	blood:	n/a	n/a
36	CTCF	chr13:95363560-95363710	GM12868	blood:	n/a	n/a
37	CTCF	chr13:95363576-95363692	Medullo	brain:	n/a	n/a
38	CTCF	chr13:95363306-95363454	GM12891	blood:	n/a	n/a
39	CTCF	chr13:95364120-95364270	WERI-Rb-1	eye:	n/a	n/a
40	CTCF	chr13:95363293-95363757	NHEK	skin:	n/a	n/a
41	CTCF	chr13:95363540-95363690	GM06990	blood:	n/a	n/a
42	CTCF	chr13:95363500-95363650	GM12864	blood:	n/a	n/a
43	CTCF	chr13:95363520-95363670	HepG2	liver:	n/a	n/a
44	CTCF	chr13:95363525-95363761	GM13977	blood:	n/a	n/a
45	CTCF	chr13:95363520-95363670	AG09309	skin:	n/a	n/a
46	CTCF	chr13:95363083-95364212	SK-N-SH	brain:	n/a	n/a
47	CTCF	chr13:95363538-95363732	SK-N-SH_RA	brain:	n/a	n/a
48	CTCF	chr13:95363520-95363670	HL-60	blood:	n/a	n/a
49	CTCF	chr13:95363675-95363737	Pancreas_OC	pancreas:	n/a	n/a
50	CTCF	chr13:95363500-95363650	K562	blood:	n/a	n/a

(count:1159 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr13:95364333-95364383	RPTEC	kidney:	n/a
2	chr13:95364633-95364683	SK-N-MC	brain:	n/a
3	chr13:95363755-95363805	LNCaP	prostate:	n/a
4	chr13:95364510-95364560	SKMC	muscle:	n/a
5	chr13:95363811-95363861	K562	blood:	n/a
6	chr13:95364062-95364112	HRPEpiC	eye:	n/a
7	chr13:95364333-95364383	A549	lung:	n/a
8	chr13:95364586-95364636	AG04449	skin:	fetal
9	chr13:95363371-95363421	HPAEpiC	pulmonary alveolar:	n/a
10	chr13:95364993-95365043	AG04450	lung:	fetal
11	chr13:95364510-95364560	SAEC	small airway:	n/a
12	chr13:95364928-95364978	ECC-1	luminal epithelium:	n/a
13	chr13:95364510-95364560	ProgFib	skin:	n/a
14	chr13:95363007-95363057	PFSK-1	brain:	n/a
15	chr13:95364921-95364971	U87	brain:	n/a
16	chr13:95364633-95364683	LNCaP	prostate:	n/a
17	chr13:95364921-95364971	ProgFib	skin:	n/a
18	chr13:95364062-95364112	GM19239	blood:	n/a
19	chr13:95362829-95362879	GM12892	blood:	n/a
20	chr13:95363755-95363805	BE2_C	brain:	n/a
21	chr13:95363007-95363057	HCT-116	colon:	n/a
22	chr13:95364586-95364636	SK-N-SH	brain:	n/a
23	chr13:95364675-95364725	H1-hESC	embryonic stem cell:	embryo
24	chr13:95364915-95364965	GM06990	blood:	n/a
25	chr13:95363755-95363805	CMK	blood:	n/a
26	chr13:95364633-95364683	HCPEpiC	choroid plexus:	n/a
27	chr13:95364921-95364971	BJ	skin:	n/a
28	chr13:95363371-95363421	HMEC	breast:	n/a
29	chr13:95364514-95364564	MCF10A-Er-Src	breast:	n/a
30	chr13:95364514-95364564	SK-N-MC	brain:	n/a
31	chr13:95362971-95363021	MCF10A-Er-Src	breast:	n/a
32	chr13:95364510-95364560	HRE	kidney:	n/a
33	chr13:95364675-95364725	HRCEpiC	kidney:	n/a
34	chr13:95364062-95364112	GM12891	blood:	n/a
35	chr13:95364993-95365043	HCT-116	colon:	n/a
36	chr13:95363371-95363421	ovcar-3	ovarian:	n/a
37	chr13:95364675-95364725	HCPEpiC	choroid plexus:	n/a
38	chr13:95364333-95364383	Jurkat	blood:	n/a
39	chr13:95363007-95363057	PrEC	prostate:	n/a
40	chr13:95363811-95363861	A549	lung:	n/a
41	chr13:95363755-95363805	ovcar-3	ovarian:	n/a
42	chr13:95362829-95362879	HRPEpiC	eye:	n/a
43	chr13:95363811-95363861	HEEpiC	esophagus:	n/a
44	chr13:95363007-95363057	AG09309	skin:	n/a
45	chr13:95364928-95364978	MCF10A-Er-Src	breast:	n/a
46	chr13:95364633-95364683	HMEC	breast:	n/a
47	chr13:95364915-95364965	Hepatocyte	liver:	n/a
48	chr13:95364514-95364564	AG04450	lung:	fetal
49	chr13:95363371-95363421	HCT-116	colon:	n/a
50	chr13:95363007-95363057	NHBE	bronchial:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr13:95357906..95359959-chr13:95361552..95364059,2	MCF-7	breast:
2	chr13:95355528..95357274-chr13:95361498..95363560,2	K562	blood:
3	chr13:95363939..95364459-chr9:139760451..139760979,2	MCF-7	breast:
4	chr13:95359884..95364398-chr13:95364758..95367708,4	MCF-7	breast:
5	chr13:95359884..95364398-chr13:95364758..95367708,4	MCF-7	breast:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GPR180-1	chr13:95364970-95365647	NR_046514
2	lnc-GPR180-1	chr13:95364970-95365647	XLOC_010472
3	lnc-GPR180-1	chr13:95364970-95365647	ENSG00000227640.2

No data

Variant related genes	Relation type
SOX21-AS1	TF binding region
SOX21	TF binding region
SOX21-AS1	CpG island
SOX21	CpG island
ENSG00000107223	chromatin interactions
ENSG00000125285	chromatin interactions
ENSG00000227640	chromatin interactions

Extended variants
information (count: 69 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:69 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs61965659	chr13:95362616-95362617	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs7332466	chr13:95362629-95362630	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs369612971	chr13:95362661-95362662	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs189144824	chr13:95362800-95362801	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs570200640	chr13:95362857-95362858	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs536039267	chr13:95362872-95362873	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs35383846	chr13:95362908-95362909	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs549574221	chr13:95362984-95362985	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs559107703	chr13:95363035-95363036	Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs371296766	chr13:95363036-95363037	Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs193033486	chr13:95363090-95363091	Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs566293091	chr13:95363102-95363103	Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs184622368	chr13:95363144-95363145	Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs558173233	chr13:95363166-95363167	Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs552748335	chr13:95363200-95363201	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs565064177	chr13:95363216-95363217	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs577565671	chr13:95363248-95363249	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs536680654	chr13:95363304-95363305	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs374600006	chr13:95363320-95363321	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs549320862	chr13:95363335-95363336	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs573370729	chr13:95363352-95363353	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs542330190	chr13:95363472-95363473	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs559080603	chr13:95363524-95363525	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs572954698	chr13:95363555-95363556	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs545283160	chr13:95363581-95363582	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs6492735	chr13:95363617-95363618	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs187532628	chr13:95363659-95363660	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs533347331	chr13:95363743-95363744	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs550228217	chr13:95363813-95363814	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs9556411	chr13:95363884-95363885	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs529375034	chr13:95363891-95363892	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs151073656	chr13:95363993-95363994	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs140988549	chr13:95364031-95364032	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs1060474	chr13:95364046-95364047	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs376668908	chr13:95364132-95364133	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs201165035	chr13:95364139-95364140	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs112443365	chr13:95364172-95364173	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs369089208	chr13:95364271-95364272	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs371201022	chr13:95364295-95364296	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs565901071	chr13:95364307-95364308	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs372694947	chr13:95364309-95364310	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs376963859	chr13:95364312-95364313	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs2253604	chr13:95364337-95364338	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs374564780	chr13:95364348-95364349	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs368374709	chr13:95364350-95364351	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs370653019	chr13:95364352-95364353	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs537368323	chr13:95364356-95364357	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs556501481	chr13:95364360-95364361	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs566933282	chr13:95364386-95364387	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs535897216	chr13:95364422-95364423	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:84)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
HIV/AIDS	22032296	CNVD
Prostate cancer	16705090	CNVD
High-proliferative meningiomas	17937814	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	CNVD
Burkitt''s lymphoma	18698080	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
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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Myoepithelioma	18604193	CNVD
Breast cancer	17133270	CNVD
Prostate cancer	18632612	CNVD
Melanoma	18172304	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Metanephric adenoma	20802469	CNVD
Gastric cancer	17908304	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal cancer	21851588	CNVD
Omodysplasia	19481194	CNVD
Breast cancer	22032731	CNVD
Rhabdomyosarcoma	17210683	CNVD
Burkitt''s lymphoma	19759907	CNVD
Wilms tumour	21544195	CNVD
Developmental delay	21147756	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Breast cancer	17603634	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thyroid cancer	19087340	CNVD
abortions and stillbirths	19751515	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	19651601	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:379 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:95358800-95366200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr13:95359000-95368000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr13:95359200-95366600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr13:95359600-95366000	Active TSS	Cortex derived primary cultured neurospheres	brain
5	chr13:95359600-95366400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr13:95360000-95364000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
7	chr13:95360400-95363200	Active TSS	Brain Germinal Matrix	brain
8	chr13:95360800-95362800	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
9	chr13:95360800-95362800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr13:95360800-95363000	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
11	chr13:95360800-95363600	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr13:95361000-95363600	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr13:95361400-95363200	Active TSS	Fetal Brain Female	brain
14	chr13:95361600-95362600	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
15	chr13:95361600-95362600	Weak transcription	Brain Substantia Nigra	brain
16	chr13:95361800-95363600	Bivalent/Poised TSS	Brain Anterior Caudate	brain
17	chr13:95361800-95366000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
18	chr13:95362200-95366000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
19	chr13:95362400-95362600	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
20	chr13:95362400-95362600	Bivalent Enhancer	Colon Smooth Muscle	Colon
21	chr13:95362400-95362800	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
22	chr13:95362400-95363000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
23	chr13:95362400-95363000	Bivalent/Poised TSS	Fetal Brain Male	brain
24	chr13:95362400-95363200	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
25	chr13:95362400-95363200	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr13:95362400-95366200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
27	chr13:95362400-95366200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
28	chr13:95362400-95366600	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
29	chr13:95362400-95366800	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
30	chr13:95362600-95362800	Bivalent Enhancer	Brain Inferior Temporal Lobe	brain
31	chr13:95362600-95363000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
32	chr13:95362600-95363000	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr13:95362600-95363000	Flanking Bivalent TSS/Enh	NHEK	skin
34	chr13:95362600-95363200	Bivalent Enhancer	Primary hematopoietic stem cells	blood
35	chr13:95362600-95363200	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
36	chr13:95362600-95363200	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
37	chr13:95362600-95363200	Bivalent/Poised TSS	Fetal Stomach	stomach
38	chr13:95362600-95363400	Bivalent Enhancer	Fetal Heart	heart
39	chr13:95362600-95364000	Bivalent Enhancer	Fetal Muscle Leg	muscle
40	chr13:95362600-95364000	Bivalent/Poised TSS	NH-A	brain
41	chr13:95362600-95364800	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
42	chr13:95362600-95365200	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr13:95362600-95366200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
44	chr13:95362600-95366200	Bivalent/Poised TSS	Brain Angular Gyrus	brain
45	chr13:95362600-95366400	Active TSS	Brain Substantia Nigra	brain
46	chr13:95362800-95363000	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr13:95362800-95363000	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
48	chr13:95362800-95363000	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
49	chr13:95362800-95363000	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
50	chr13:95362800-95363000	Bivalent Enhancer	Fetal Lung	lung

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