Variant report

Variant	nsv462585
Chromosome Location	chr5:180031131-180069852
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF3	chr5:180038092-180038427	K562	blood:	n/a	n/a
2	ATF3	chr5:180038227-180038391	K562	blood:	n/a	n/a
3	CBX3	chr5:180038124-180038384	K562	blood:	n/a	n/a
4	CREB1	chr5:180045842-180046437	A549	lung:	n/a	n/a
5	CREB1	chr5:180038106-180038434	A549	lung:	n/a	n/a
6	CREB1	chr5:180038094-180038561	K562	blood:	n/a	n/a
7	CREB1	chr5:180058933-180059230	H1-hESC	embryonic stem cell:	n/a	n/a
8	CTCF	chr5:180038314-180038362	NHEK	skin:	n/a	n/a
9	CTCF	chr5:180051640-180051790	HEK293	kidney:	n/a	chr5:180051657-180051670 chr5:180051664-180051677
10	CTCF	chr5:180033100-180033250	WI-38	lung:	n/a	chr5:180033127-180033145 chr5:180033129-180033142 chr5:180033122-180033143
11	CTCF	chr5:180038254-180038436	MCF-7	breast:	n/a	chr5:180038313-180038321
12	CTCF	chr5:180039663-180039890	K562	blood:	n/a	chr5:180039771-180039789
13	CTCF	chr5:180046240-180046390	HL-60	blood:	n/a	n/a
14	CTCF	chr5:180032980-180033130	HAc	cerebellar:	n/a	n/a
15	CTCF	chr5:180032673-180032812	H1-hESC	embryonic stem cell:	n/a	chr5:180032713-180032731 chr5:180032716-180032725 chr5:180032716-180032729
16	CTCF	chr5:180038240-180038390	HepG2	liver:	n/a	chr5:180038313-180038321
17	CTCF	chr5:180032954-180033314	K562	blood:	n/a	chr5:180033127-180033145 chr5:180033129-180033142 chr5:180033122-180033143
18	CTCF	chr5:180046000-180046150	SK-N-SH_RA	brain:	n/a	n/a
19	CTCF	chr5:180032532-180033303	H1-hESC	embryonic stem cell:	n/a	chr5:180032713-180032731 chr5:180033127-180033145 chr5:180032716-180032725 chr5:180033129-180033142 chr5:180032716-180032729 chr5:180033122-180033143
20	CTCF	chr5:180033100-180033250	GM12801	blood:	n/a	chr5:180033127-180033145 chr5:180033129-180033142 chr5:180033122-180033143
21	CTCF	chr5:180032635-180033372	HCT-116	colon:	n/a	chr5:180032713-180032731 chr5:180033127-180033145 chr5:180032716-180032725 chr5:180033129-180033142 chr5:180032716-180032729 chr5:180033122-180033143
22	CTCF	chr5:180033240-180033390	HAc	cerebellar:	n/a	n/a
23	CTCF	chr5:180032959-180033284	ECC-1	luminal epithelium:	n/a	chr5:180033127-180033145 chr5:180033129-180033142 chr5:180033122-180033143
24	CTCF	chr5:180033080-180033230	WERI-Rb-1	eye:	n/a	chr5:180033127-180033145 chr5:180033129-180033142 chr5:180033122-180033143
25	CTCF	chr5:180046000-180046150	HPAF	blood vessel:	n/a	n/a
26	CTCF	chr5:180038280-180038384	MCF-7	breast:	n/a	chr5:180038313-180038321
27	CTCF	chr5:180046240-180046390	K562	blood:	n/a	n/a
28	CTCF	chr5:180046260-180046410	WERI-Rb-1	eye:	n/a	n/a
29	CTCF	chr5:180046480-180046630	BE2_C	brain:	n/a	n/a
30	CTCF	chr5:180038201-180038476	K562	blood:	n/a	chr5:180038313-180038321
31	CTCF	chr5:180038260-180038410	WERI-Rb-1	eye:	n/a	chr5:180038313-180038321
32	CTCF	chr5:180033400-180033550	Caco-2	colon:	n/a	n/a
33	CTCF	chr5:180032571-180033328	H1-hESC	embryonic stem cell:	n/a	chr5:180032713-180032731 chr5:180033127-180033145 chr5:180032716-180032725 chr5:180033129-180033142 chr5:180032716-180032729 chr5:180033122-180033143
34	CTCF	chr5:180046180-180046330	HVMF	connective:	n/a	n/a
35	CTCF	chr5:180033004-180033280	GM10266	blood:	n/a	chr5:180033127-180033145 chr5:180033129-180033142 chr5:180033122-180033143
36	CTCF	chr5:180046260-180046410	HRE	kidney:	n/a	n/a
37	CTCF	chr5:180033060-180033210	AG09319	gingival:	n/a	chr5:180033127-180033145 chr5:180033129-180033142 chr5:180033122-180033143
38	CTCF	chr5:180038175-180038395	A549	lung:	n/a	chr5:180038313-180038321
39	CTCF	chr5:180045978-180046511	GM12891	blood:	n/a	n/a
40	CTCF	chr5:180038260-180038410	HepG2	liver:	n/a	chr5:180038313-180038321
41	CTCF	chr5:180045977-180046500	H1-hESC	embryonic stem cell:	n/a	n/a
42	CTCF	chr5:180046180-180046330	WI-38	lung:	n/a	n/a
43	CTCF	chr5:180033380-180033530	GM12866	blood:	n/a	n/a
44	CTCF	chr5:180033080-180033230	BJ	skin:	n/a	chr5:180033127-180033145 chr5:180033129-180033142 chr5:180033122-180033143
45	CTCF	chr5:180046000-180046150	AG04449	skin:	n/a	n/a
46	CTCF	chr5:180032650-180032719	HepG2	liver:	n/a	n/a
47	CTCF	chr5:180046300-180046450	HEK293	kidney:	n/a	n/a
48	CTCF	chr5:180038300-180038450	SK-N-SH_RA	brain:	n/a	chr5:180038313-180038321
49	CTCF	chr5:180033080-180033230	HepG2	liver:	n/a	chr5:180033127-180033145 chr5:180033129-180033142 chr5:180033122-180033143
50	CTCF	chr5:180045956-180046497	MCF-7	breast:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:180036446-180036496	AG04450	lung:	fetal
2	chr5:180047686-180047736	T-47D	breast:	n/a
3	chr5:180036446-180036496	Hepatocyte	liver:	n/a
4	chr5:180052364-180052414	GM06990	blood:	n/a
5	chr5:180036446-180036496	AG04450	lung:	fetal
6	chr5:180047686-180047736	T-47D	breast:	n/a
7	chr5:180036446-180036496	Hepatocyte	liver:	n/a
8	chr5:180052364-180052414	GM06990	blood:	n/a
9	chr5:180059096-180059146	U87	brain:	n/a
10	chr5:180046052-180046102	SAEC	small airway:	n/a
11	chr5:180046052-180046102	MCF10A-Er-Src	breast:	n/a
12	chr5:180047299-180047349	SK-N-SH	brain:	n/a
13	chr5:180055850-180055900	HMEC	breast:	n/a
14	chr5:180047299-180047349	BJ	skin:	n/a
15	chr5:180035837-180035887	HUVEC	blood vessel:	n/a
16	chr5:180057303-180057353	HepG2	liver:	n/a
17	chr5:180044026-180044076	PrEC	prostate:	n/a
18	chr5:180045822-180045872	HEK293	kidney:	embryo
19	chr5:180055850-180055900	GM19239	blood:	n/a
20	chr5:180053982-180054032	BJ	skin:	n/a
21	chr5:180036277-180036327	A549	lung:	n/a
22	chr5:180045822-180045872	NT2-D1	testis:	n/a
23	chr5:180050565-180050615	Hela-S3	cervix:	n/a
24	chr5:180056580-180056630	NHBE	bronchial:	n/a
25	chr5:180057303-180057353	AG09309	skin:	n/a
26	chr5:180045822-180045872	SAEC	small airway:	n/a
27	chr5:180045822-180045872	ProgFib	skin:	n/a
28	chr5:180033559-180033609	SAEC	small airway:	n/a
29	chr5:180036399-180036449	HAEpiC	amniotic membrane:	n/a
30	chr5:180033511-180033561	HRE	kidney:	n/a
31	chr5:180047798-180047848	GM19239	blood:	n/a
32	chr5:180041908-180041958	HEK293	kidney:	embryo
33	chr5:180045822-180045872	HRE	kidney:	n/a
34	chr5:180057034-180057084	HIPEpiC	eye:	n/a
35	chr5:180045597-180045647	BJ	skin:	n/a
36	chr5:180036446-180036496	GM12891	blood:	n/a
37	chr5:180059096-180059146	HUVEC	blood vessel:	n/a
38	chr5:180046052-180046102	BJ	skin:	n/a
39	chr5:180048893-180048943	HIPEpiC	eye:	n/a
40	chr5:180052364-180052414	A549	lung:	n/a
41	chr5:180036399-180036449	RPTEC	kidney:	n/a
42	chr5:180045822-180045872	HAEpiC	amniotic membrane:	n/a
43	chr5:180036446-180036496	HRCEpiC	kidney:	n/a
44	chr5:180036446-180036496	Caco-2	colon:	n/a
45	chr5:180053982-180054032	Caco-2	colon:	n/a
46	chr5:180035837-180035887	HRPEpiC	eye:	n/a
47	chr5:180036446-180036496	K562	blood:	n/a
48	chr5:180047299-180047349	LNCaP	prostate:	n/a
49	chr5:180050565-180050615	NB4	blood:	n/a
50	chr5:180047407-180047457	Caco-2	colon:	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:180035679..180038320-chr5:180045902..180049643,3	MCF-7	breast:
2	chr5:180031301..180033388-chr5:180043244..180045976,2	MCF-7	breast:
3	chr5:180044847..180047372-chr5:180048996..180050512,2	K562	blood:
4	chr5:180047630..180050366-chr5:180050889..180052970,2	K562	blood:
5	chr5:180032730..180033573-chr5:180097208..180098138,2	MCF-7	breast:
6	chr5:180065065..180066811-chr5:180072819..180075038,2	K562	blood:
7	chr5:179720195..179721071-chr5:180032628..180033187,3	MCF-7	breast:
8	chr5:179926447..179929444-chr5:180030197..180034087,3	MCF-7	breast:
9	chr5:180048663..180050730-chr5:180113911..180116171,2	K562	blood:
10	chr5:180031301..180033388-chr5:180043244..180045976,2	MCF-7	breast:
11	chr5:180046012..180054191-chr5:180056996..180060440,8	K562	blood:
12	chr5:179799196..179802015-chr5:180050331..180053003,2	MCF-7	breast:
13	chr5:179758608..179760983-chr5:180044449..180046070,2	MCF-7	breast:
14	chr5:180029601..180031861-chr5:180034178..180035755,2	K562	blood:
15	chr5:180048401..180050293-chr5:180059742..180062204,2	MCF-7	breast:
16	chr5:179918331..179919238-chr5:180032789..180033687,2	MCF-7	breast:
17	chr5:180026241..180027759-chr5:180029653..180032526,2	MCF-7	breast:
18	chr5:180030276..180031977-chr5:180049658..180052103,2	MCF-7	breast:
19	chr5:179921107..179922607-chr5:180049466..180050983,2	MCF-7	breast:
20	chr5:180017444..180018982-chr5:180034267..180036665,2	MCF-7	breast:
21	chr5:180047660..180049691-chr5:180056996..180059691,2	K562	blood:
22	chr5:180052176..180054289-chr5:180056133..180059074,3	MCF-7	breast:
23	chr5:179918146..179918859-chr5:180033017..180033559,2	MCF-7	breast:
24	chr5:179920260..179922999-chr5:180038598..180040134,2	MCF-7	breast:
25	chr5:180033053..180035793-chr5:180035814..180039937,3	K562	blood:
26	chr5:180030276..180031977-chr5:180049658..180052103,2	MCF-7	breast:
27	chr5:180048401..180050293-chr5:180059742..180062204,2	MCF-7	breast:
28	chr5:180047630..180050366-chr5:180050889..180052970,2	K562	blood:
29	chr5:180029601..180031861-chr5:180034178..180035755,2	K562	blood:
30	chr5:180051235..180053741-chr5:180054610..180058069,3	K562	blood:
31	chr5:180037911..180038640-chr5:180145288..180145999,2	MCF-7	breast:
32	chr5:180033145..180034677-chr5:180036724..180038959,2	MCF-7	breast:
33	chr5:180018107..180022370-chr5:180026154..180031875,8	K562	blood:
34	chr5:180047660..180049691-chr5:180056996..180059691,2	K562	blood:
35	chr5:180067823..180069604-chr5:180072708..180075164,2	K562	blood:
36	chr5:180034337..180037411-chr5:180040154..180043371,4	MCF-7	breast:

Variant related genes	Relation type
FLT4	TF binding region
FLT4	CpG island
ENSG00000131459	chromatin interactions
ENSG00000248367	chromatin interactions
ENSG00000113300	chromatin interactions
ENSG00000161055	chromatin interactions
ENSG00000037280	chromatin interactions

Extended variants
information (count: 2454 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:2454 , 50 per page) page: 1 2 3 4 5 6 7 ... 50

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11739750	chr5:180031131-180031132	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs538243476	chr5:180031140-180031141	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs184289176	chr5:180031144-180031145	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs138879030	chr5:180031145-180031146	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs538069123	chr5:180031193-180031194	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs554772222	chr5:180031263-180031264	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs574796572	chr5:180031264-180031265	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs534033782	chr5:180031267-180031268	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs554107150	chr5:180031272-180031273	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs538268906	chr5:180031274-180031275	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs149067729	chr5:180031278-180031279	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs369610857	chr5:180031300-180031301	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs548645899	chr5:180031305-180031306	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs72816992	chr5:180031312-180031313	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs7709359	chr5:180031367-180031368	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs72816994	chr5:180031412-180031413	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs145890726	chr5:180031415-180031416	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs561897836	chr5:180031436-180031437	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs527874307	chr5:180031437-180031438	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs552845592	chr5:180031452-180031453	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs564421532	chr5:180031456-180031457	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs572709541	chr5:180031457-180031458	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs532164822	chr5:180031519-180031520	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs551862572	chr5:180031539-180031540	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs112345717	chr5:180031540-180031541	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs568951733	chr5:180031547-180031548	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs138708592	chr5:180031557-180031558	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs11249738	chr5:180031565-180031566	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs568310454	chr5:180031620-180031621	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs533966323	chr5:180031659-180031660	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs558447204	chr5:180031666-180031667	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs554143945	chr5:180031667-180031668	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs570626814	chr5:180031686-180031687	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs539835421	chr5:180031694-180031695	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs35851350	chr5:180031702-180031703	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs369834349	chr5:180031704-180031705	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs556242022	chr5:180031720-180031721	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs574872521	chr5:180031721-180031722	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs192956696	chr5:180031840-180031841	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs542002057	chr5:180031846-180031847	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs543750724	chr5:180031864-180031865	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs373986799	chr5:180031883-180031884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs377620193	chr5:180031884-180031885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs541203380	chr5:180031901-180031902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs533859534	chr5:180031966-180031967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs373510745	chr5:180031967-180031968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs564464382	chr5:180031978-180031979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs78795510	chr5:180031980-180031981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs545795753	chr5:180031987-180031988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs184567617	chr5:180032028-180032029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	16751803	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Thyroid cancer	19087340	CNVD
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Renal cell carcinoma	19377443	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18592004	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Prostate cancer	18632612	CNVD
epilepsy	18472482	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Sotos syndrome	21572526	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Sotos syndrome	17561922	CNVD
Sotos syndrome	16773131	CNVD
Mental retardation	16773131	CNVD
Sotos syndrome	22470819	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Acute myeloid leukemia	18000384	CNVD
Sudden cardiac death	19188705	CNVD
Basal cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Lung cancer	17297452	CNVD
Cancer	20164920	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Sotos syndrome	22283845	CNVD
Breast cancer	16272173	CNVD
Sotos syndrome	20503325	CNVD
Lung adenocarcinoma	17086460	CNVD
Congenital Hypertrichosis Syndrome	21636067	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	19181860	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ehlers-danlos syndrome	17576883	CNVD
Lung cancer	17086460	CNVD
Autism	19246517	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Autism	22543975	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Schizophrenia	23813976	CNVD
Schizophrenia	21346763	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:524 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:180018800-180045800	Weak transcription	Right Atrium	heart
2	chr5:180024000-180039000	Weak transcription	Gastric	stomach
3	chr5:180024200-180032800	Weak transcription	Placenta	Placenta
4	chr5:180027800-180039600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr5:180028000-180039200	Weak transcription	Lung	lung
6	chr5:180029400-180045600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr5:180029800-180031400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr5:180029800-180043200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr5:180030000-180032800	Weak transcription	Pancreas	Pancrea
10	chr5:180030400-180035200	Weak transcription	HUVEC	blood vessel
11	chr5:180031000-180031600	Enhancers	Spleen	Spleen
12	chr5:180031200-180031400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
13	chr5:180031400-180031600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr5:180031400-180031600	Enhancers	K562	blood
15	chr5:180031600-180032600	Weak transcription	K562	blood
16	chr5:180031600-180032800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr5:180031600-180035600	Weak transcription	Spleen	Spleen
18	chr5:180031600-180037200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr5:180032600-180033000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
20	chr5:180032600-180033600	Enhancers	K562	blood
21	chr5:180032800-180033000	Bivalent Enhancer	HepG2	liver
22	chr5:180032800-180033200	Enhancers	Placenta	Placenta
23	chr5:180032800-180033400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
24	chr5:180032800-180033400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr5:180032800-180033400	Enhancers	Pancreas	Pancrea
26	chr5:180032800-180033600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr5:180032800-180033800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr5:180033200-180033600	Flanking Active TSS	Placenta	Placenta
29	chr5:180033200-180039200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr5:180033600-180034600	Enhancers	Placenta	Placenta
31	chr5:180033600-180034800	Weak transcription	K562	blood
32	chr5:180033800-180035400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr5:180034600-180035400	Weak transcription	Placenta	Placenta
34	chr5:180034800-180035200	Enhancers	K562	blood
35	chr5:180034800-180035600	Enhancers	HSMMtube	muscle
36	chr5:180035200-180035800	Flanking Active TSS	K562	blood
37	chr5:180035200-180036200	Enhancers	HUVEC	blood vessel
38	chr5:180035400-180035600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr5:180035400-180035600	Enhancers	Placenta	Placenta
40	chr5:180035400-180035800	Bivalent Enhancer	HepG2	liver
41	chr5:180035600-180037600	Bivalent Enhancer	Placenta	Placenta
42	chr5:180035600-180037600	Strong transcription	Spleen	Spleen
43	chr5:180035600-180043400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr5:180035800-180036000	Enhancers	K562	blood
45	chr5:180036000-180036400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr5:180036200-180036600	Weak transcription	HUVEC	blood vessel
47	chr5:180036600-180036800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr5:180036600-180037200	Enhancers	HUVEC	blood vessel
49	chr5:180037200-180037600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr5:180037200-180037600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin

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