Variant report

Variant	nsv566158
Chromosome Location	chr14:105609335-105634604
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:627)
CpG islands
(count:2138)
Chromatin interactive
region (count:64)
LncRNA
region (count:0)
Mature miRNA
region (count: 2)
miRNA target
sites (count:0)

(count:627 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF3	chr14:105633815-105634024	K562	blood:	n/a	n/a
2	BACH1	chr14:105634160-105634415	H1-hESC	embryonic stem cell:	n/a	n/a
3	BHLHE40	chr14:105633488-105634425	K562	blood:	n/a	chr14:105633626-105633642
4	BRCA1	chr14:105628806-105629067	HepG2	liver:	n/a	n/a
5	CCNT2	chr14:105633598-105634394	K562	blood:	n/a	n/a
6	CEBPB	chr14:105631426-105631943	ECC-1	luminal epithelium:	n/a	n/a
7	CHD2	chr14:105628806-105628928	HepG2	liver:	n/a	n/a
8	CHD2	chr14:105632638-105632642	K562	blood:	n/a	n/a
9	CHD2	chr14:105633690-105633737	Hela-S3	cervix:	n/a	n/a
10	CHD2	chr14:105634239-105634449	Hela-S3	cervix:	n/a	n/a
11	CREB1	chr14:105633974-105634413	A549	lung:	n/a	n/a
12	CTCF	chr14:105613155-105613312	GM12878	blood:	n/a	n/a
13	CTCF	chr14:105611560-105611710	GM12875	blood:	n/a	chr14:105611569-105611579 chr14:105611619-105611637 chr14:105611626-105611634
14	CTCF	chr14:105611500-105611650	GM06990	blood:	n/a	chr14:105611569-105611579 chr14:105611619-105611637 chr14:105611626-105611634
15	CTCF	chr14:105633781-105634493	K562	blood:	n/a	n/a
16	CTCF	chr14:105632920-105633150	Hela-S3	cervix:	n/a	chr14:105633102-105633120 chr14:105633104-105633117
17	CTCF	chr14:105629426-105629554	HepG2	liver:	n/a	n/a
18	CTCF	chr14:105633782-105634350	K562	blood:	n/a	n/a
19	CTCF	chr14:105633040-105633190	SAEC	small airway:	n/a	chr14:105633102-105633120 chr14:105633104-105633117
20	CTCF	chr14:105611520-105611670	HCPEpiC	choroid plexus:	n/a	chr14:105611569-105611579 chr14:105611619-105611637 chr14:105611626-105611634
21	CTCF	chr14:105613209-105613302	GM19239	blood:	n/a	n/a
22	CTCF	chr14:105634180-105634330	NHEK	skin:	n/a	n/a
23	CTCF	chr14:105631506-105631572	Pancreas_OC	pancreas:	n/a	chr14:105631554-105631562
24	CTCF	chr14:105617774-105617835	GM19238	blood:	n/a	n/a
25	CTCF	chr14:105634080-105634230	HRE	kidney:	n/a	n/a
26	CTCF	chr14:105633872-105634317	K562	blood:	n/a	n/a
27	CTCF	chr14:105617724-105617863	NHEK	skin:	n/a	n/a
28	CTCF	chr14:105613160-105613310	HepG2	liver:	n/a	n/a
29	CTCF	chr14:105611560-105611699	HepG2	liver:	n/a	chr14:105611569-105611579 chr14:105611619-105611637 chr14:105611626-105611634
30	CTCF	chr14:105611540-105611690	GM12875	blood:	n/a	chr14:105611569-105611579 chr14:105611619-105611637 chr14:105611626-105611634
31	CTCF	chr14:105632984-105633173	NHEK	skin:	n/a	chr14:105633102-105633120 chr14:105633104-105633117
32	CTCF	chr14:105611660-105611810	NB4	blood:	n/a	n/a
33	CTCF	chr14:105633260-105633410	NHEK	skin:	n/a	n/a
34	CTCF	chr14:105633780-105634145	H1-hESC	embryonic stem cell:	n/a	n/a
35	CTCF	chr14:105633866-105634070	Hela-S3	cervix:	n/a	n/a
36	CTCF	chr14:105613214-105613323	Fibrobl	skin:	n/a	n/a
37	CTCF	chr14:105633883-105633885	GM19239	blood:	n/a	n/a
38	CTCF	chr14:105611566-105611669	Fibrobl	skin:	n/a	chr14:105611569-105611579 chr14:105611619-105611637 chr14:105611626-105611634
39	CTCF	chr14:105634187-105634331	Fibrobl	skin:	n/a	n/a
40	CTCF	chr14:105634100-105634250	GM12871	blood:	n/a	n/a
41	CTCF	chr14:105633874-105634359	MCF-7	breast:	n/a	n/a
42	CTCF	chr14:105633940-105634090	SAEC	small airway:	n/a	n/a
43	CTCF	chr14:105634100-105634250	GM12874	blood:	n/a	n/a
44	CTCF	chr14:105631460-105631610	MCF-7	breast:	n/a	chr14:105631554-105631562
45	CTCF	chr14:105634140-105634290	HRPEpiC	eye:	n/a	n/a
46	CTCF	chr14:105611582-105611690	GM19239	blood:	n/a	chr14:105611619-105611637 chr14:105611626-105611634
47	CTCF	chr14:105611520-105611670	HCT-116	colon:	n/a	chr14:105611569-105611579 chr14:105611619-105611637 chr14:105611626-105611634
48	CTCF	chr14:105631571-105631603	GM19239	blood:	n/a	n/a
49	CTCF	chr14:105631489-105631643	Hela-S3	cervix:	n/a	chr14:105631554-105631562
50	CTCF	chr14:105611540-105611690	A549	lung:	n/a	chr14:105611569-105611579 chr14:105611619-105611637 chr14:105611626-105611634

(count:2138 , 50 per page) page: 1 2 3 4 5 6 7 ... 43

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:105612971-105613021	GM12891	blood:	n/a
2	chr14:105617308-105617358	MCF-7	breast:	n/a
3	chr14:105615459-105615509	AG10803	skin:	n/a
4	chr14:105612971-105613021	GM12891	blood:	n/a
5	chr14:105617308-105617358	MCF-7	breast:	n/a
6	chr14:105615459-105615509	AG10803	skin:	n/a
7	chr14:105614818-105614868	T-47D	breast:	n/a
8	chr14:105620358-105620408	NHBE	bronchial:	n/a
9	chr14:105613783-105613833	AoSMC	blood vessel:	n/a
10	chr14:105618576-105618626	Caco-2	colon:	n/a
11	chr14:105613102-105613152	SK-N-SH	brain:	n/a
12	chr14:105620358-105620408	SKMC	muscle:	n/a
13	chr14:105625577-105625627	AG09309	skin:	n/a
14	chr14:105622312-105622362	NH-A	brain:	n/a
15	chr14:105618482-105618532	HCM	heart:	n/a
16	chr14:105612787-105612837	K562	blood:	n/a
17	chr14:105625577-105625627	BJ	skin:	n/a
18	chr14:105617080-105617130	MCF-7	breast:	n/a
19	chr14:105620358-105620408	H1-hESC	embryonic stem cell:	embryo
20	chr14:105624483-105624533	HepG2	liver:	n/a
21	chr14:105618576-105618626	AG09309	skin:	n/a
22	chr14:105614564-105614614	SK-N-SH_RA	brain:	n/a
23	chr14:105609411-105609461	H1-hESC	embryonic stem cell:	embryo
24	chr14:105609411-105609461	BJ	skin:	n/a
25	chr14:105612971-105613021	PFSK-1	brain:	n/a
26	chr14:105617173-105617223	GM19239	blood:	n/a
27	chr14:105613783-105613833	SAEC	small airway:	n/a
28	chr14:105618816-105618866	HCF	heart:	n/a
29	chr14:105614818-105614868	GM12878	blood:	n/a
30	chr14:105634387-105634437	HUVEC	blood vessel:	n/a
31	chr14:105609831-105609881	HEK293	kidney:	embryo
32	chr14:105617575-105617625	Caco-2	colon:	n/a
33	chr14:105617575-105617625	GM12891	blood:	n/a
34	chr14:105622454-105622504	PANC-1	pancreas:	n/a
35	chr14:105613783-105613833	Hela-S3	cervix:	n/a
36	chr14:105622312-105622362	HEEpiC	esophagus:	n/a
37	chr14:105618576-105618626	HRPEpiC	eye:	n/a
38	chr14:105609516-105609566	BJ	skin:	n/a
39	chr14:105615459-105615509	ECC-1	luminal epithelium:	n/a
40	chr14:105617839-105617889	SK-N-SH	brain:	n/a
41	chr14:105633697-105633747	A549	lung:	n/a
42	chr14:105614552-105614602	PFSK-1	brain:	n/a
43	chr14:105617839-105617889	ProgFib	skin:	n/a
44	chr14:105625577-105625627	HEEpiC	esophagus:	n/a
45	chr14:105622454-105622504	HepG2	liver:	n/a
46	chr14:105634387-105634437	HPAEpiC	pulmonary alveolar:	n/a
47	chr14:105625577-105625627	GM12891	blood:	n/a
48	chr14:105622454-105622504	AG04450	lung:	fetal
49	chr14:105618576-105618626	HEK293	kidney:	embryo
50	chr14:105612787-105612837	HCT-116	colon:	n/a

(count:64 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr14:105633069..105635536-chr14:105714407..105716304,2	MCF-7	breast:
2	chr14:105605939..105608674-chr14:105628049..105630309,2	K562	blood:
3	chr14:105620616..105622856-chr14:105624629..105627730,3	MCF-7	breast:
4	chr14:105609926..105615692-chr14:105616858..105625128,9	K562	blood:
5	chr14:105438558..105440399-chr14:105616229..105618880,2	MCF-7	breast:
6	chr14:105615014..105617239-chr14:105619145..105622136,2	K562	blood:
7	chr14:105632643..105634203-chr14:105776322..105778030,2	K562	blood:
8	chr14:105633273..105637288-chr14:105642227..105645314,5	MCF-7	breast:
9	chr14:105602588..105606045-chr14:105617930..105622124,4	MCF-7	breast:
10	chr14:105552235..105554666-chr14:105628025..105629965,2	MCF-7	breast:
11	chr14:105615698..105618053-chr14:105622347..105625638,3	MCF-7	breast:
12	chr14:105556907..105557905-chr14:105631981..105632717,2	MCF-7	breast:
13	chr14:105566584..105569448-chr14:105610028..105612847,2	MCF-7	breast:
14	chr14:105627527..105629912-chr14:105632611..105634539,3	MCF-7	breast:
15	chr14:105632765..105635152-chr14:105864248..105866641,2	K562	blood:
16	chr14:105618156..105621334-chr14:105628329..105630360,3	K562	blood:
17	chr14:105619466..105621170-chr14:105628840..105630613,2	MCF-7	breast:
18	chr14:105556509..105557265-chr14:105631240..105632200,2	MCF-7	breast:
19	chr14:105619466..105621170-chr14:105628840..105630613,2	MCF-7	breast:
20	chr14:105610604..105613096-chr14:105619107..105620769,2	K562	blood:
21	chr14:105556528..105557420-chr14:105633531..105634669,3	MCF-7	breast:
22	chr14:105618086..105620322-chr14:105622917..105625684,2	MCF-7	breast:
23	chr14:105627527..105629912-chr14:105632611..105634539,3	MCF-7	breast:
24	chr14:105618326..105620016-chr14:105627831..105630426,2	MCF-7	breast:
25	chr14:105450462..105452951-chr14:105633617..105637647,3	MCF-7	breast:
26	chr14:105618326..105620016-chr14:105627831..105630426,2	MCF-7	breast:
27	chr14:105611401..105614212-chr14:105625101..105627298,2	MCF-7	breast:
28	chr14:105615014..105617239-chr14:105619145..105622136,2	K562	blood:
29	chr14:105559890..105560867-chr14:105633779..105634301,2	MCF-7	breast:
30	chr14:105632764..105636922-chr14:105637769..105642057,5	MCF-7	breast:
31	chr14:105609926..105615692-chr14:105616858..105625128,9	K562	blood:
32	chr14:105502174..105504922-chr14:105632204..105633983,2	MCF-7	breast:
33	chr14:105631465..105635896-chr14:105645452..105649219,9	MCF-7	breast:
34	chr14:105617835..105619717-chr14:105620167..105621698,2	MCF-7	breast:
35	chr14:105631482..105635033-chr14:105765939..105767661,3	K562	blood:
36	chr14:105613142..105616306-chr14:105622290..105625169,3	K562	blood:
37	chr14:105633713..105635633-chr7:75987137..75988852,2	K562	blood:
38	chr14:105613499..105615482-chr14:105618517..105620945,3	MCF-7	breast:
39	chr14:105445649..105448428-chr14:105631488..105633523,2	MCF-7	breast:
40	chr14:105603768..105606019-chr14:105630363..105631971,2	K562	blood:
41	chr14:105191017..105193582-chr14:105615897..105618849,2	MCF-7	breast:
42	chr14:105620302..105622152-chr14:105646136..105647731,2	MCF-7	breast:
43	chr14:105601373..105604174-chr14:105610785..105613135,3	MCF-7	breast:
44	chr14:105620616..105622856-chr14:105624629..105627730,3	MCF-7	breast:
45	chr14:105617835..105619717-chr14:105620167..105621698,2	MCF-7	breast:
46	chr14:105633510..105636132-chr14:105956968..105959602,2	K562	blood:
47	chr14:105556861..105558363-chr14:105628903..105631842,2	K562	blood:
48	chr14:105620927..105623497-chr14:105711846..105714187,2	MCF-7	breast:
49	chr14:105511711..105512332-chr14:105633666..105634346,2	MCF-7	breast:
50	chr14:105556047..105558699-chr14:105620485..105622825,2	K562	blood:

No data

miRNA name	Chromosome Location	mirBase accession
hsa-miR-6765-3p	chr14:105617115-105617135	MIMAT0027431
hsa-miR-6765-5p	chr14:105617177-105617201	MIMAT0027430

No data

Variant related genes	Relation type
JAG2	TF binding region
JAG2	CpG island
ENSG00000185024	chromatin interactions
ENSG00000257556	chromatin interactions
ENSG00000226174	chromatin interactions
ENSG00000140104	chromatin interactions
ENSG00000170027	chromatin interactions
ENSG00000184887	chromatin interactions
ENSG00000185567	chromatin interactions
ENSG00000184916	chromatin interactions
ENSG00000257622	chromatin interactions
ENSG00000185347	chromatin interactions
ENSG00000183828	chromatin interactions
ENSG00000179364	chromatin interactions

Extended variants
information (count: 1257 )
Associated
traits (count: 112 )

Variant overlapped rSNPs/rCNVs (count:1257 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10149229	chr14:105609335-105609336	Weak transcription Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs35304114	chr14:105609359-105609360	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs138204105	chr14:105609380-105609381	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs149569485	chr14:105609392-105609393	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs34728766	chr14:105609400-105609401	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs373863344	chr14:105609409-105609410	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs377407573	chr14:105609411-105609412	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs370798389	chr14:105609412-105609413	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs375610143	chr14:105609420-105609421	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs199706267	chr14:105609458-105609459	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs200121636	chr14:105609459-105609460	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs372127675	chr14:105609467-105609468	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs587682736	chr14:105609484-105609485	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs373797671	chr14:105609517-105609518	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs201833691	chr14:105609529-105609530	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs200624627	chr14:105609530-105609531	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs375246254	chr14:105609540-105609541	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs369861512	chr14:105609556-105609557	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs587689252	chr14:105609566-105609567	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs587749789	chr14:105609595-105609596	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs587634498	chr14:105609683-105609684	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs117935415	chr14:105609692-105609693	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs587705877	chr14:105609731-105609732	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs374891701	chr14:105609738-105609739	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs587646833	chr14:105609739-105609740	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs587698500	chr14:105609745-105609746	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs368473093	chr14:105609751-105609752	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs587750487	chr14:105609752-105609753	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs587654755	chr14:105609753-105609754	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs371939429	chr14:105609783-105609784	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs376344828	chr14:105609793-105609794	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs587705721	chr14:105609795-105609796	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs369997740	chr14:105609798-105609799	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs587597053	chr14:105609805-105609806	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs118005500	chr14:105609810-105609811	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs199934719	chr14:105609825-105609826	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs201660730	chr14:105609831-105609832	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs78487156	chr14:105609834-105609835	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs377415384	chr14:105609835-105609836	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs74913644	chr14:105609836-105609837	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs146366402	chr14:105609841-105609842	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs117293701	chr14:105609845-105609846	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs368783099	chr14:105609862-105609863	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs373487292	chr14:105609876-105609877	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs376433872	chr14:105609893-105609894	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs371312658	chr14:105609894-105609895	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs374324090	chr14:105609906-105609907	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs587678193	chr14:105609918-105609919	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs587730186	chr14:105609926-105609927	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs369465389	chr14:105609927-105609928	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:112)

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
Recurrent pregnancy loss	19789632	CNVD
Aortic dissecting aneurysms	22263138	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Non-syndromic sensorineural hearing loss	17431168	CNVD
Oligozoospermia	20877625	CNVD
Sertoli-cell only syndrome	20877625	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	22522925	CNVD
Acute lymphoblastic leukemia	22237106	CNVD

Chromatin state (count:780 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105602800-105629800	Weak transcription	K562	blood
2	chr14:105606400-105617800	Strong transcription	Skeletal Muscle Female	skeletal muscle
3	chr14:105606800-105618000	Weak transcription	Psoas Muscle	Psoas
4	chr14:105606800-105619600	Weak transcription	Stomach Smooth Muscle	stomach
5	chr14:105606800-105631600	Weak transcription	Hela-S3	cervix
6	chr14:105607000-105609800	Strong transcription	Left Ventricle	heart
7	chr14:105607000-105610000	Strong transcription	HUVEC	blood vessel
8	chr14:105607000-105615200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr14:105607000-105615400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr14:105607000-105618200	Strong transcription	Gastric	stomach
11	chr14:105607000-105621600	Weak transcription	Duodenum Mucosa	Duodenum
12	chr14:105607200-105610400	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr14:105607200-105611200	Strong transcription	Esophagus	oesophagus
14	chr14:105607200-105613000	Strong transcription	Fetal Muscle Leg	muscle
15	chr14:105607200-105614000	Strong transcription	Fetal Brain Female	brain
16	chr14:105607200-105616000	Strong transcription	HMEC	breast
17	chr14:105607200-105619600	Weak transcription	Colonic Mucosa	Colon
18	chr14:105607400-105609400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr14:105607400-105610000	Strong transcription	Brain Germinal Matrix	brain
20	chr14:105607400-105611000	Weak transcription	Fetal Muscle Trunk	muscle
21	chr14:105607400-105611200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr14:105607400-105612000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr14:105607400-105612400	Weak transcription	Brain Anterior Caudate	brain
24	chr14:105607400-105619200	Strong transcription	Pancreas	Pancrea
25	chr14:105607600-105611800	Weak transcription	Brain Hippocampus Middle	brain
26	chr14:105607600-105612000	Weak transcription	Brain Cingulate Gyrus	brain
27	chr14:105607600-105616000	Strong transcription	Fetal Intestine Small	intestine
28	chr14:105607600-105617600	Strong transcription	Skeletal Muscle Male	skeletal muscle
29	chr14:105607600-105625400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr14:105607600-105632000	Weak transcription	Brain Angular Gyrus	brain
31	chr14:105608000-105611000	Strong transcription	NHEK	skin
32	chr14:105608000-105618000	Strong transcription	Adipose Nuclei	Adipose
33	chr14:105608200-105616400	Strong transcription	Right Ventricle	heart
34	chr14:105608400-105609400	Strong transcription	Spleen	Spleen
35	chr14:105608600-105611600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr14:105608600-105613200	Weak transcription	HSMMtube	muscle
37	chr14:105608800-105611400	Weak transcription	Fetal Stomach	stomach
38	chr14:105608800-105611800	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr14:105608800-105612000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr14:105608800-105612800	Weak transcription	A549	lung
41	chr14:105608800-105618400	Strong transcription	Lung	lung
42	chr14:105609000-105615000	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr14:105609200-105610000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr14:105609200-105612000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr14:105609400-105610200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr14:105609400-105610800	Weak transcription	Spleen	Spleen
47	chr14:105609400-105631400	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr14:105609600-105618800	Weak transcription	Placenta	Placenta
49	chr14:105609600-105622000	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr14:105609800-105610000	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links