Variant report

Variant	esv3443911
Chromosome Location	chr9:103188156-103191004
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:573)
CpG islands
(count:247)
Chromatin interactive
region (count:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:573 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr9:103188363-103189299	K562	blood:	n/a	n/a
2	ARID3A	chr9:103188063-103189399	HepG2	liver:	n/a	n/a
3	ARID3A	chr9:103190045-103190238	HepG2	liver:	n/a	n/a
4	BACH1	chr9:103188440-103190245	H1-hESC	embryonic stem cell:	n/a	n/a
5	BHLHE40	chr9:103188563-103189560	K562	blood:	n/a	chr9:103189368-103189384
6	BHLHE40	chr9:103188737-103189546	HepG2	liver:	n/a	chr9:103189368-103189384
7	BHLHE40	chr9:103188917-103189625	GM12878	blood:	n/a	chr9:103189368-103189384
8	BRCA1	chr9:103189222-103189407	HepG2	liver:	n/a	n/a
9	BRCA1	chr9:103188584-103188964	HepG2	liver:	n/a	n/a
10	BRCA1	chr9:103188660-103189306	Hela-S3	cervix:	n/a	n/a
11	CBX3	chr9:103188665-103189324	K562	blood:	n/a	n/a
12	CCNT2	chr9:103188565-103190134	K562	blood:	n/a	n/a
13	CEBPB	chr9:103190186-103190269	H1-hESC	embryonic stem cell:	n/a	n/a
14	CEBPB	chr9:103188581-103189030	HepG2	liver:	n/a	chr9:103188703-103188714
15	CEBPB	chr9:103188599-103188919	A549	lung:	n/a	chr9:103188703-103188714
16	CEBPB	chr9:103189952-103190522	Hela-S3	cervix:	n/a	n/a
17	CEBPB	chr9:103188542-103189010	K562	blood:	n/a	chr9:103188703-103188714
18	CEBPB	chr9:103190053-103190347	HepG2	liver:	n/a	n/a
19	CEBPB	chr9:103188521-103189192	A549	lung:	n/a	chr9:103188703-103188714
20	CEBPB	chr9:103188510-103189120	IMR90	lung:	n/a	chr9:103188703-103188714
21	CEBPB	chr9:103188275-103189337	Hela-S3	cervix:	n/a	chr9:103188703-103188714
22	CEBPB	chr9:103188513-103189127	K562	blood:	n/a	chr9:103188703-103188714
23	CEBPD	chr9:103189102-103189484	HepG2	liver:	n/a	n/a
24	CHD1	chr9:103189163-103189529	GM12878	blood:	n/a	n/a
25	CHD1	chr9:103187954-103192506	IMR90	lung:	n/a	n/a
26	CHD2	chr9:103188584-103190336	Hela-S3	cervix:	n/a	n/a
27	CHD2	chr9:103188811-103189354	K562	blood:	n/a	n/a
28	CHD2	chr9:103189607-103190047	K562	blood:	n/a	n/a
29	CHD2	chr9:103188938-103189429	GM12878	blood:	n/a	n/a
30	CHD2	chr9:103189985-103190183	H1-hESC	embryonic stem cell:	n/a	n/a
31	CHD2	chr9:103188819-103189269	HepG2	liver:	n/a	n/a
32	CREB1	chr9:103189127-103189737	A549	lung:	n/a	n/a
33	CTBP2	chr9:103189918-103190298	H1-hESC	embryonic stem cell:	n/a	n/a
34	CTCF	chr9:103189394-103189464	MCF-7	breast:	n/a	n/a
35	CTCF	chr9:103189360-103189510	A549	lung:	n/a	n/a
36	CTCF	chr9:103189360-103189510	GM12874	blood:	n/a	n/a
37	CTCF	chr9:103189320-103189470	AG04449	skin:	n/a	chr9:103189359-103189368
38	CTCF	chr9:103189300-103189450	WERI-Rb-1	eye:	n/a	chr9:103189359-103189368
39	CTCF	chr9:103189320-103189470	HBMEC	blood vessel:	n/a	chr9:103189359-103189368
40	CTCF	chr9:103189080-103189230	Hela-S3	cervix:	n/a	n/a
41	CTCF	chr9:103189300-103189450	GM12870	blood:	n/a	chr9:103189359-103189368
42	CTCF	chr9:103189900-103190050	GM12866	blood:	n/a	chr9:103189989-103189997
43	CTCF	chr9:103189840-103189990	GM12866	blood:	n/a	n/a
44	CTCF	chr9:103189340-103189490	GM12872	blood:	n/a	chr9:103189359-103189368
45	CTCF	chr9:103189340-103189490	AG04449	skin:	n/a	chr9:103189359-103189368
46	CTCF	chr9:103190040-103190190	AG10803	skin:	n/a	n/a
47	CTCF	chr9:103189260-103189410	GM12874	blood:	n/a	chr9:103189359-103189368
48	CTCF	chr9:103189320-103189470	AoAF	blood vessel:	n/a	chr9:103189359-103189368
49	CTCF	chr9:103189320-103189470	HCM	heart:	n/a	chr9:103189359-103189368
50	CTCF	chr9:103189389-103189490	K562	blood:	n/a	n/a

(count:247 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:103190019-103190069	NH-A	brain:	n/a
2	chr9:103188942-103188992	T-47D	breast:	n/a
3	chr9:103189168-103189218	NH-A	brain:	n/a
4	chr9:103190019-103190069	NH-A	brain:	n/a
5	chr9:103188942-103188992	T-47D	breast:	n/a
6	chr9:103189168-103189218	NH-A	brain:	n/a
7	chr9:103190019-103190069	CMK	blood:	n/a
8	chr9:103189158-103189208	IMR90	lung:	fetal
9	chr9:103189168-103189218	GM12891	blood:	n/a
10	chr9:103188942-103188992	ECC-1	luminal epithelium:	n/a
11	chr9:103189158-103189208	HCPEpiC	choroid plexus:	n/a
12	chr9:103190019-103190069	PrEC	prostate:	n/a
13	chr9:103190019-103190069	AG04450	lung:	fetal
14	chr9:103190019-103190069	HRE	kidney:	n/a
15	chr9:103188942-103188992	H1-hESC	embryonic stem cell:	embryo
16	chr9:103189168-103189218	GM06990	blood:	n/a
17	chr9:103188942-103188992	CMK	blood:	n/a
18	chr9:103189168-103189218	LNCaP	prostate:	n/a
19	chr9:103189168-103189218	BE2_C	brain:	n/a
20	chr9:103190019-103190069	A549	lung:	n/a
21	chr9:103189158-103189208	BJ	skin:	n/a
22	chr9:103189158-103189208	HEK293	kidney:	embryo
23	chr9:103189158-103189208	BE2_C	brain:	n/a
24	chr9:103189168-103189218	HUVEC	blood vessel:	n/a
25	chr9:103189158-103189208	ECC-1	luminal epithelium:	n/a
26	chr9:103189158-103189208	HPAEpiC	pulmonary alveolar:	n/a
27	chr9:103190019-103190069	IMR90	lung:	fetal
28	chr9:103189158-103189208	SK-N-SH	brain:	n/a
29	chr9:103189158-103189208	AG09309	skin:	n/a
30	chr9:103189168-103189218	HepG2	liver:	n/a
31	chr9:103189168-103189218	GM12878	blood:	n/a
32	chr9:103188942-103188992	HEK293	kidney:	embryo
33	chr9:103190019-103190069	SK-N-SH	brain:	n/a
34	chr9:103189158-103189208	AG04449	skin:	fetal
35	chr9:103189158-103189208	Hela-S3	cervix:	n/a
36	chr9:103188942-103188992	SK-N-SH	brain:	n/a
37	chr9:103188942-103188992	Hepatocyte	liver:	n/a
38	chr9:103189168-103189218	AG04449	skin:	fetal
39	chr9:103190019-103190069	BE2_C	brain:	n/a
40	chr9:103190019-103190069	NHDF-neo	bronchial:	n/a
41	chr9:103189158-103189208	SK-N-MC	brain:	n/a
42	chr9:103189158-103189208	NH-A	brain:	n/a
43	chr9:103189168-103189218	SK-N-SH_RA	brain:	n/a
44	chr9:103189158-103189208	HNPCEpiC	eye:	n/a
45	chr9:103189158-103189208	K562	blood:	n/a
46	chr9:103189158-103189208	GM19239	blood:	n/a
47	chr9:103190019-103190069	HIPEpiC	eye:	n/a
48	chr9:103188942-103188992	AG04450	lung:	fetal
49	chr9:103189158-103189208	HRCEpiC	kidney:	n/a
50	chr9:103189168-103189218	PFSK-1	brain:	n/a

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:103187999..103190908-chr9:103233595..103236918,6	MCF-7	breast:
2	chr9:103185149..103186826-chr9:103187204..103188970,2	K562	blood:
3	chr9:102587074..102589303-chr9:103188855..103190578,2	MCF-7	breast:
4	chr9:103182521..103185122-chr9:103187370..103189359,3	K562	blood:
5	chr9:103188255..103190992-chr9:103234182..103236159,2	MCF-7	breast:
6	chr12:56510216..56511089-chr9:103188467..103189444,2	Hela-S3	cervix:
7	chr9:103112020..103116853-chr9:103187928..103193300,12	MCF-7	breast:
8	chr9:103113279..103116752-chr9:103187119..103190910,6	K562	blood:
9	chr9:102580552..102583439-chr9:103187663..103189259,2	MCF-7	breast:
10	chr3:57678348..57678964-chr9:103188755..103189418,2	Hela-S3	cervix:
11	chr9:101982434..101984283-chr9:103190237..103193103,2	MCF-7	breast:
12	chr6:3000150..3000654-chr9:103188910..103189655,2	Hela-S3	cervix:
13	chr9:103187168..103189222-chr9:103356564..103358499,2	K562	blood:
14	chr9:103108891..103111879-chr9:103188016..103191736,3	K562	blood:
15	chr2:15731552..15732171-chr9:103189458..103190114,2	Hela-S3	cervix:
16	chr9:103105076..103107773-chr9:103190189..103193187,3	MCF-7	breast:
17	chr9:102581117..102583683-chr9:103188604..103191068,4	K562	blood:
18	chr9:103113751..103117482-chr9:103187755..103190910,6	K562	blood:
19	chr9:103108916..103110922-chr9:103189088..103192439,3	MCF-7	breast:
20	chr9:103112743..103119519-chr9:103186928..103191502,9	MCF-7	breast:
21	chr16:88519591..88520195-chr9:103189245..103190084,2	HCT-116	colon:
22	chr11:62608651..62609649-chr9:103188677..103189695,4	Hela-S3	cervix:
23	chr9:103176909..103179543-chr9:103186659..103188308,2	K562	blood:

No data

Variant related genes	Relation type
MSANTD3	TF binding region
MSANTD3	CpG island
ENSG00000179588	chromatin interactions
ENSG00000079785	chromatin interactions
ENSG00000237461	chromatin interactions
ENSG00000119523	chromatin interactions
ENSG00000119508	chromatin interactions
ENSG00000124588	chromatin interactions
ENSG00000174839	chromatin interactions
ENSG00000229117	chromatin interactions
ENSG00000133316	chromatin interactions
ENSG00000241697	chromatin interactions
ENSG00000241933	chromatin interactions
ENSG00000136891	chromatin interactions

Extended variants
information (count: 85 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:85 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs202222199	chr9:103188168-103188169	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs377332405	chr9:103188266-103188267	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs140065126	chr9:103188269-103188270	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs535313530	chr9:103188373-103188374	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs571281162	chr9:103188374-103188375	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs555038232	chr9:103188383-103188384	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs146784110	chr9:103188446-103188447	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs557133194	chr9:103188458-103188459	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs113704927	chr9:103188459-103188460	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs576200429	chr9:103188494-103188495	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs551196645	chr9:103188530-103188531	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs141161333	chr9:103188563-103188564	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs569336616	chr9:103188602-103188603	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs564715419	chr9:103188603-103188604	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs527612919	chr9:103188609-103188610	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs142222730	chr9:103188610-103188611	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs560595318	chr9:103188618-103188619	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs532213509	chr9:103188624-103188625	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs5018733	chr9:103188632-103188633	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs151211541	chr9:103188638-103188639	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs186063361	chr9:103188666-103188667	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs373799169	chr9:103188689-103188690	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
23	rs4743397	chr9:103188757-103188758	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs143346015	chr9:103188783-103188784	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
25	rs73655536	chr9:103188826-103188827	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs554813453	chr9:103189004-103189005	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
27	rs73655537	chr9:103189010-103189011	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs72735110	chr9:103189031-103189032	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs140315131	chr9:103189053-103189054	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
30	rs537015421	chr9:103189196-103189197	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
31	rs375771913	chr9:103189205-103189206	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
32	rs577294538	chr9:103189216-103189217	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
33	rs545873358	chr9:103189292-103189293	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
34	rs62579389	chr9:103189320-103189321	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
35	rs558368917	chr9:103189326-103189327	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
36	rs571904434	chr9:103189330-103189331	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
37	rs540928180	chr9:103189336-103189337	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
38	rs112932999	chr9:103189338-103189339	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
39	rs560986385	chr9:103189339-103189340	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
40	rs544373839	chr9:103189341-103189342	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
41	rs574391207	chr9:103189392-103189393	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
42	rs191173698	chr9:103189530-103189531	Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
43	rs183786527	chr9:103189560-103189561	Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
44	rs563275299	chr9:103189607-103189608	Active TSS Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
45	rs559519841	chr9:103189708-103189709	Active TSS Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
46	rs532143384	chr9:103189721-103189722	Active TSS Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
47	rs188954095	chr9:103189743-103189744	Active TSS Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
48	rs112914133	chr9:103189746-103189747	Active TSS Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
49	rs560036473	chr9:103189757-103189758	Active TSS Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
50	rs10989089	chr9:103189912-103189913	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:67)

Disease	PMID	Source
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Medulloblastoma	21979893	CNVD
microdeletion syndrome	16199537	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
lymphocytic leukemia	21291569	CNVD
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Leukemia	18688285	CNVD
Non-small cell lung cancer	21044232	CNVD
Brain cancer	20823417	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Renal cell carcinoma	19461508	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Heart disease	21282601	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
small cell lung cancer	20016488	CNVD
Cardiac fibroma	18329553	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Fukuyama congenital muscular dystrophy	21572526	CNVD
Testicular germ cell tumor	18059402	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Mantle cell lymphoma	19029149	CNVD
Intracranial aneurysm	16715129	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:549 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:103174600-103188800	Weak transcription	Esophagus	oesophagus
2	chr9:103180400-103188600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr9:103182000-103188600	Weak transcription	HSMM	muscle
4	chr9:103184200-103188200	Weak transcription	Fetal Heart	heart
5	chr9:103184200-103188600	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr9:103185200-103188200	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr9:103187600-103188200	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr9:103187600-103188400	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr9:103188000-103188200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr9:103188000-103188200	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr9:103188000-103188200	Weak transcription	Aorta	Aorta
12	chr9:103188000-103188200	Enhancers	Hela-S3	cervix
13	chr9:103188000-103188200	Enhancers	HepG2	liver
14	chr9:103188000-103188200	Enhancers	HMEC	breast
15	chr9:103188000-103188200	Enhancers	NHEK	skin
16	chr9:103188000-103188400	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr9:103188000-103188400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr9:103188000-103188400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr9:103188000-103188400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr9:103188000-103188400	Enhancers	HUVEC	blood vessel
21	chr9:103188000-103188400	Enhancers	NHDF-Ad	bronchial
22	chr9:103188000-103188600	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr9:103188000-103188600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr9:103188000-103188600	Enhancers	Muscle Satellite Cultured Cells	--
25	chr9:103188000-103188600	Flanking Active TSS	A549	lung
26	chr9:103188000-103188600	Enhancers	K562	blood
27	chr9:103188000-103188600	Enhancers	NHLF	lung
28	chr9:103188000-103188800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr9:103188000-103188800	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr9:103188200-103188400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr9:103188200-103188400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr9:103188200-103188400	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr9:103188200-103188400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr9:103188200-103188400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr9:103188200-103188400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr9:103188200-103188400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr9:103188200-103188400	Enhancers	Brain Angular Gyrus	brain
38	chr9:103188200-103188400	Flanking Active TSS	HepG2	liver
39	chr9:103188200-103188400	Enhancers	HSMMtube	muscle
40	chr9:103188200-103188600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
41	chr9:103188200-103188600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
42	chr9:103188200-103188600	Enhancers	Primary T killer memory cells from peripheral blood	blood
43	chr9:103188200-103188600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr9:103188200-103188600	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr9:103188200-103188600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr9:103188200-103188600	Enhancers	Colon Smooth Muscle	Colon
47	chr9:103188200-103188600	Enhancers	Fetal Intestine Large	intestine
48	chr9:103188200-103188600	Enhancers	Fetal Lung	lung
49	chr9:103188200-103188600	Enhancers	Fetal Stomach	stomach
50	chr9:103188200-103188600	Enhancers	Placenta Amnion	Placenta Amnion

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links