Variant report

Variant	nsv1335
Chromosome Location	chr14:70036126-70062584
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:988)
CpG islands
(count:1223)
Chromatin interactive
region (count:45)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:988 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr14:70051512-70052065	K562	blood:	n/a	n/a
2	ARID3A	chr14:70051723-70052024	HepG2	liver:	n/a	n/a
3	ARID3A	chr14:70036661-70036871	HepG2	liver:	n/a	n/a
4	ARID3A	chr14:70046440-70047170	HepG2	liver:	n/a	n/a
5	ATF1	chr14:70046697-70047142	K562	blood:	n/a	n/a
6	ATF3	chr14:70046856-70047007	K562	blood:	n/a	n/a
7	ATF3	chr14:70046728-70047112	K562	blood:	n/a	n/a
8	BACH1	chr14:70041458-70041770	H1-hESC	embryonic stem cell:	n/a	n/a
9	BATF	chr14:70060048-70060429	GM12878	blood:	n/a	chr14:70060262-70060273 chr14:70060263-70060273
10	BATF	chr14:70060080-70060432	GM12878	blood:	n/a	chr14:70060262-70060273 chr14:70060263-70060273
11	BCL11A	chr14:70060080-70060428	GM12878	blood:	n/a	chr14:70060262-70060271
12	BCLAF1	chr14:70041382-70041806	GM12878	blood:	n/a	n/a
13	BHLHE40	chr14:70041598-70041658	K562	blood:	n/a	n/a
14	BHLHE40	chr14:70046786-70047182	K562	blood:	n/a	n/a
15	BHLHE40	chr14:70046639-70047197	HepG2	liver:	n/a	n/a
16	BHLHE40	chr14:70051753-70051975	GM12878	blood:	n/a	n/a
17	BRCA1	chr14:70043724-70043906	Hela-S3	cervix:	n/a	n/a
18	BRCA1	chr14:70046725-70047158	Hela-S3	cervix:	n/a	n/a
19	CEBPB	chr14:70046771-70047070	K562	blood:	n/a	chr14:70046930-70046941
20	CEBPB	chr14:70046645-70047222	MCF-7	breast:	n/a	chr14:70046930-70046941
21	CEBPB	chr14:70036736-70036894	HepG2	liver:	n/a	n/a
22	CEBPB	chr14:70046542-70047158	K562	blood:	n/a	chr14:70046930-70046941
23	CEBPB	chr14:70046647-70047204	HepG2	liver:	n/a	chr14:70046930-70046941
24	CEBPB	chr14:70046709-70047088	HepG2	liver:	n/a	chr14:70046930-70046941
25	CEBPB	chr14:70046681-70047231	HepG2	liver:	n/a	chr14:70046930-70046941
26	CEBPB	chr14:70046648-70047217	Hela-S3	cervix:	n/a	chr14:70046930-70046941
27	CEBPB	chr14:70046668-70047161	IMR90	lung:	n/a	chr14:70046930-70046941
28	CEBPB	chr14:70046778-70047182	A549	lung:	n/a	chr14:70046930-70046941
29	CEBPB	chr14:70046680-70047125	A549	lung:	n/a	chr14:70046930-70046941
30	CEBPB	chr14:70046736-70047205	K562	blood:	n/a	chr14:70046930-70046941
31	CEBPB	chr14:70046784-70047201	H1-hESC	embryonic stem cell:	n/a	chr14:70046930-70046941
32	CEBPB	chr14:70046739-70047067	HepG2	liver:	n/a	chr14:70046930-70046941
33	CEBPD	chr14:70046753-70047080	HepG2	liver:	n/a	n/a
34	CEBPD	chr14:70046698-70047165	K562	blood:	n/a	n/a
35	CHD1	chr14:70041520-70041874	IMR90	lung:	n/a	n/a
36	CHD2	chr14:70046792-70047222	HepG2	liver:	n/a	n/a
37	CHD2	chr14:70041259-70041667	H1-hESC	embryonic stem cell:	n/a	n/a
38	CHD2	chr14:70046748-70047103	Hela-S3	cervix:	n/a	n/a
39	CHD2	chr14:70038693-70038959	H1-hESC	embryonic stem cell:	n/a	n/a
40	CHD2	chr14:70039330-70039421	H1-hESC	embryonic stem cell:	n/a	n/a
41	CHD2	chr14:70041437-70041486	HepG2	liver:	n/a	n/a
42	CREB1	chr14:70046611-70047211	HepG2	liver:	n/a	n/a
43	CREB1	chr14:70046611-70047321	HepG2	liver:	n/a	n/a
44	CTCF	chr14:70038520-70038670	NHEK	skin:	n/a	chr14:70038578-70038591
45	CTCF	chr14:70041160-70041310	HCM	heart:	n/a	n/a
46	CTCF	chr14:70051697-70052027	K562	blood:	n/a	chr14:70051885-70051895 chr14:70051880-70051898 chr14:70051883-70051892 chr14:70051882-70051903 chr14:70051881-70051897
47	CTCF	chr14:70051757-70052023	NHEK	skin:	n/a	chr14:70051885-70051895 chr14:70051880-70051898 chr14:70051883-70051892 chr14:70051882-70051903 chr14:70051881-70051897
48	CTCF	chr14:70051747-70051940	A549	lung:	n/a	chr14:70051885-70051895 chr14:70051880-70051898 chr14:70051883-70051892 chr14:70051882-70051903 chr14:70051881-70051897
49	CTCF	chr14:70051800-70051950	GM12864	blood:	n/a	chr14:70051885-70051895 chr14:70051880-70051898 chr14:70051883-70051892 chr14:70051882-70051903 chr14:70051881-70051897
50	CTCF	chr14:70046960-70047110	SK-N-SH_RA	brain:	n/a	n/a

(count:1223 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:70046847-70046897	SKMC	muscle:	n/a
2	chr14:70037728-70037778	IMR90	lung:	fetal
3	chr14:70040899-70040949	AG04450	lung:	fetal
4	chr14:70046847-70046897	SKMC	muscle:	n/a
5	chr14:70037728-70037778	IMR90	lung:	fetal
6	chr14:70040899-70040949	AG04450	lung:	fetal
7	chr14:70046847-70046897	GM12891	blood:	n/a
8	chr14:70039262-70039312	HCPEpiC	choroid plexus:	n/a
9	chr14:70041661-70041711	HUVEC	blood vessel:	n/a
10	chr14:70038505-70038555	HCT-116	colon:	n/a
11	chr14:70044404-70044454	GM12892	blood:	n/a
12	chr14:70039262-70039312	NHBE	bronchial:	n/a
13	chr14:70041283-70041333	HCT-116	colon:	n/a
14	chr14:70038949-70038999	HCM	heart:	n/a
15	chr14:70039262-70039312	IMR90	lung:	fetal
16	chr14:70038717-70038767	MCF10A-Er-Src	breast:	n/a
17	chr14:70039262-70039312	CMK	blood:	n/a
18	chr14:70040391-70040441	GM12892	blood:	n/a
19	chr14:70039915-70039965	SAEC	small airway:	n/a
20	chr14:70041661-70041711	SK-N-MC	brain:	n/a
21	chr14:70039915-70039965	SK-N-SH	brain:	n/a
22	chr14:70038884-70038934	NB4	blood:	n/a
23	chr14:70038925-70038975	PANC-1	pancreas:	n/a
24	chr14:70041661-70041711	AG04449	skin:	fetal
25	chr14:70041393-70041443	HNPCEpiC	eye:	n/a
26	chr14:70040899-70040949	K562	blood:	n/a
27	chr14:70039915-70039965	GM06990	blood:	n/a
28	chr14:70038949-70038999	SKMC	muscle:	n/a
29	chr14:70038505-70038555	HepG2	liver:	n/a
30	chr14:70038717-70038767	HIPEpiC	eye:	n/a
31	chr14:70037728-70037778	GM19239	blood:	n/a
32	chr14:70038236-70038286	HEEpiC	esophagus:	n/a
33	chr14:70041214-70041264	HIPEpiC	eye:	n/a
34	chr14:70044404-70044454	HRCEpiC	kidney:	n/a
35	chr14:70038925-70038975	U87	brain:	n/a
36	chr14:70041393-70041443	SK-N-MC	brain:	n/a
37	chr14:70039915-70039965	ECC-1	luminal epithelium:	n/a
38	chr14:70040391-70040441	SK-N-SH	brain:	n/a
39	chr14:70037728-70037778	K562	blood:	n/a
40	chr14:70038925-70038975	GM12891	blood:	n/a
41	chr14:70038925-70038975	NH-A	brain:	n/a
42	chr14:70039262-70039312	GM19239	blood:	n/a
43	chr14:70041214-70041264	NB4	blood:	n/a
44	chr14:70060335-70060385	NB4	blood:	n/a
45	chr14:70038884-70038934	U87	brain:	n/a
46	chr14:70040899-70040949	NT2-D1	testis:	n/a
47	chr14:70040391-70040441	GM12878	blood:	n/a
48	chr14:70038505-70038555	SK-N-SH_RA	brain:	n/a
49	chr14:70038884-70038934	SK-N-MC	brain:	n/a
50	chr14:70039915-70039965	BJ	skin:	n/a

(count:45 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:69970362..69971107-chr14:70041144..70041646,2	K562	blood:
2	chr14:70044627..70046904-chr14:70192270..70194531,2	K562	blood:
3	chr14:70052822..70055653-chr17:57919010..57921977,2	MCF-7	breast:
4	chr14:69970369..69971161-chr14:70041166..70042114,4	MCF-7	breast:
5	chr14:70051837..70052498-chr14:70175574..70176262,2	MCF-7	breast:
6	chr14:70047354..70049945-chr14:70191863..70193744,2	MCF-7	breast:
7	chr14:70045745..70047839-chr14:70232582..70236616,4	K562	blood:
8	chr14:70056473..70059053-chr14:70067512..70070320,2	MCF-7	breast:
9	chr14:70051429..70052416-chr14:70192974..70194385,12	K562	blood:
10	chr14:69949714..69952374-chr14:70039182..70041131,3	MCF-7	breast:
11	chr14:70058651..70060501-chr14:70232212..70234500,2	K562	blood:
12	chr14:70049658..70051914-chr14:70113200..70114742,2	K562	blood:
13	chr14:70046714..70047517-chr14:70175186..70175796,2	MCF-7	breast:
14	chr14:70001892..70002546-chr14:70046761..70047295,2	MCF-7	breast:
15	chr14:70049956..70051974-chr14:70077037..70079541,3	MCF-7	breast:
16	chr14:70001682..70002652-chr14:70041139..70042080,9	MCF-7	breast:
17	chr14:70050809..70053734-chr14:70194375..70196806,2	K562	blood:
18	chr14:70046299..70047841-chr14:70240558..70242484,2	K562	blood:
19	chr14:70002103..70002603-chr14:70041525..70042102,2	K562	blood:
20	chr14:70046589..70048780-chr14:70243227..70244805,2	MCF-7	breast:
21	chr14:70051891..70054400-chr14:70161480..70163976,2	K562	blood:
22	chr14:70054564..70056405-chr14:70060723..70063305,2	MCF-7	breast:
23	chr14:70026545..70029008-chr14:70036347..70037973,2	K562	blood:
24	chr14:70041091..70041642-chr14:70193316..70193928,2	MCF-7	breast:
25	chr14:70051292..70052714-chr14:70193350..70194369,18	MCF-7	breast:
26	chr14:70031632..70033934-chr14:70036224..70037978,2	MCF-7	breast:
27	chr14:70036912..70038706-chr14:70040330..70041890,2	MCF-7	breast:
28	chr14:70042932..70044599-chr14:70048148..70051111,2	MCF-7	breast:
29	chr14:70046515..70047542-chr14:70193403..70194180,5	MCF-7	breast:
30	chr14:70036912..70038706-chr14:70040330..70041890,2	MCF-7	breast:
31	chr14:70037278..70041103-chr14:70232570..70234461,4	MCF-7	breast:
32	chr14:70044515..70046358-chr14:70224948..70226811,2	K562	blood:
33	chr14:70049075..70051914-chr14:70112777..70114742,2	K562	blood:
34	chr14:70044893..70047261-chr14:70192485..70195445,3	K562	blood:
35	chr14:70051322..70052368-chr14:70193142..70194252,12	MCF-7	breast:
36	chr14:70001699..70002644-chr14:70040741..70042019,6	MCF-7	breast:
37	chr14:70054122..70056435-chr14:70168432..70170172,2	K562	blood:
38	chr14:70001746..70002559-chr14:70051373..70051892,2	MCF-7	breast:
39	chr14:70042932..70044599-chr14:70048148..70051111,2	MCF-7	breast:
40	chr14:70053058..70053596-chr14:70193303..70194031,2	K562	blood:
41	chr14:70050885..70055359-chr14:70192126..70194708,6	MCF-7	breast:
42	chr14:70054564..70056405-chr14:70060723..70063305,2	MCF-7	breast:
43	chr14:69709466..69710008-chr14:70041288..70042008,2	MCF-7	breast:
44	chr14:70046536..70047298-chr14:70193410..70194236,4	MCF-7	breast:
45	chr14:70053354..70055417-chr14:70232629..70234242,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C14orf162-3	chr14:70048633-70048701	NONHSAT037534
2	lnc-C14orf162-3	chr14:70046781-70047169	NONHSAT037534
3	lnc-C14orf162-1	chr14:70036532-70037918	NONHSAT037533

No data

Variant related genes	Relation type
ENSG00000267909	TF binding region
CCDC177	TF binding region
ENSG00000267909	CpG island
CCDC177	CpG island
ENSG00000175985	chromatin interactions
ENSG00000255994	chromatin interactions
ENSG00000267909	chromatin interactions
ENSG00000100650	chromatin interactions
ENSG00000100647	chromatin interactions
ENSG00000244237	chromatin interactions

Extended variants
information (count: 878 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:878 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554504435	chr14:70036151-70036152	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs534300994	chr14:70036152-70036153	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs182899658	chr14:70036183-70036184	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs573011919	chr14:70036212-70036213	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs35371371	chr14:70036224-70036225	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs139663355	chr14:70036234-70036235	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs374692840	chr14:70036255-70036256	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs375126780	chr14:70036415-70036416	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs571751661	chr14:70036418-70036419	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs79720751	chr14:70036427-70036428	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs149938595	chr14:70036459-70036460	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs531781533	chr14:70036487-70036488	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs565038692	chr14:70036545-70036546	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
14	rs367854892	chr14:70036554-70036555	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
15	rs113429861	chr14:70036576-70036577	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
16	rs58198153	chr14:70036577-70036578	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
17	rs552649742	chr14:70036578-70036579	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
18	rs397965613	chr14:70036588-70036589	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
19	rs61980689	chr14:70036590-70036591	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
20	rs544007703	chr14:70036596-70036597	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
21	rs145076280	chr14:70036603-70036604	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
22	rs192739261	chr14:70036705-70036706	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
23	rs547957922	chr14:70036819-70036820	Enhancers Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
24	rs114783194	chr14:70036880-70036881	Enhancers Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
25	rs185123841	chr14:70036884-70036885	Enhancers Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
26	rs548040589	chr14:70036904-70036905	Enhancers Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
27	rs372017984	chr14:70036908-70036909	Enhancers Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
28	rs76930190	chr14:70036965-70036966	Enhancers Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
29	rs570741733	chr14:70036977-70036978	Enhancers Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
30	rs537787555	chr14:70036995-70036996	Enhancers Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
31	rs367749738	chr14:70037015-70037016	Enhancers Strong transcription Genic enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
32	rs549928316	chr14:70037027-70037028	Enhancers Strong transcription Genic enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
33	rs148681455	chr14:70037050-70037051	Enhancers Strong transcription Genic enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
34	rs535170710	chr14:70037068-70037069	Enhancers Strong transcription Genic enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
35	rs75352791	chr14:70037122-70037123	Enhancers Strong transcription Genic enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
36	rs571657338	chr14:70037169-70037170	Enhancers Strong transcription Genic enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
37	rs45553238	chr14:70037178-70037179	Enhancers Strong transcription Genic enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
38	rs557766319	chr14:70037196-70037197	Enhancers Strong transcription Genic enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
39	rs114497606	chr14:70037279-70037280	Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Weak transcription Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
40	rs189117631	chr14:70037290-70037291	Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Weak transcription Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
41	rs140518747	chr14:70037337-70037338	Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Weak transcription Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
42	rs562305135	chr14:70037371-70037372	Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Weak transcription Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
43	rs574323785	chr14:70037378-70037379	Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Weak transcription Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
44	rs192451374	chr14:70037402-70037403	ZNF genes & repeats Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
45	rs61546096	chr14:70037420-70037421	ZNF genes & repeats Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
46	rs371488804	chr14:70037431-70037432	ZNF genes & repeats Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
47	rs551737878	chr14:70037495-70037496	ZNF genes & repeats Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
48	rs563563788	chr14:70037498-70037499	ZNF genes & repeats Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
49	rs184821478	chr14:70037531-70037532	ZNF genes & repeats Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
50	rs371530342	chr14:70037552-70037553	ZNF genes & repeats Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	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
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	22032731	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Ovarian cancer	21720365	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Barrett''s syndrome	19417022	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Neuroblastoma	20406844	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Hepatocellular carcinoma	16750200	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:848 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70027800-70036800	Weak transcription	Brain Germinal Matrix	brain
2	chr14:70029000-70036800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr14:70029000-70036800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr14:70029600-70036600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr14:70034400-70036800	Weak transcription	Hela-S3	cervix
6	chr14:70035600-70036800	Strong transcription	Fetal Brain Female	brain
7	chr14:70035800-70036600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr14:70036000-70037800	Weak transcription	Fetal Brain Male	brain
9	chr14:70036600-70037400	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr14:70036600-70037400	Bivalent Enhancer	HepG2	liver
11	chr14:70036600-70039600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr14:70036600-70040200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr14:70036800-70037000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr14:70036800-70037000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr14:70036800-70037000	Bivalent Enhancer	Liver	Liver
16	chr14:70036800-70037200	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr14:70036800-70037400	Bivalent Enhancer	Placenta	Placenta
18	chr14:70036800-70037600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr14:70036800-70037600	Genic enhancers	Fetal Brain Female	brain
20	chr14:70036800-70037800	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr14:70036800-70038000	Enhancers	Hela-S3	cervix
22	chr14:70036800-70038400	Strong transcription	Brain Germinal Matrix	brain
23	chr14:70037000-70038200	Weak transcription	Gastric	stomach
24	chr14:70037200-70037600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr14:70037200-70039600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
26	chr14:70037400-70039600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr14:70037400-70040200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
28	chr14:70037600-70038000	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr14:70037600-70038000	Strong transcription	Fetal Brain Female	brain
30	chr14:70037600-70039000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr14:70037600-70039600	Bivalent Enhancer	Placenta	Placenta
32	chr14:70037800-70038000	Bivalent Enhancer	Fetal Intestine Large	intestine
33	chr14:70037800-70038200	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
34	chr14:70037800-70038200	Bivalent Enhancer	Colonic Mucosa	Colon
35	chr14:70037800-70038200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
36	chr14:70037800-70038200	Bivalent Enhancer	Stomach Smooth Muscle	stomach
37	chr14:70037800-70038600	Bivalent Enhancer	Fetal Muscle Leg	muscle
38	chr14:70037800-70039600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr14:70037800-70040200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
40	chr14:70037800-70040400	Enhancers	Fetal Brain Male	brain
41	chr14:70038000-70038200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr14:70038000-70038200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr14:70038000-70038200	Bivalent Enhancer	Fetal Stomach	stomach
44	chr14:70038000-70038200	Bivalent Enhancer	Ovary	ovary
45	chr14:70038000-70038200	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
46	chr14:70038000-70038400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr14:70038000-70038400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr14:70038000-70038400	ZNF genes & repeats	Fetal Brain Female	brain
49	chr14:70038000-70038600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr14:70038000-70038600	Bivalent Enhancer	Colon Smooth Muscle	Colon

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links