Variant report

Variant	nsv883257
Chromosome Location	chr5:178813207-178874091
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	BACH1	chr5:178867641-178867777	H1-hESC	embryonic stem cell:	n/a	n/a
2	BHLHE40	chr5:178867642-178867915	K562	blood:	n/a	chr5:178867741-178867750 chr5:178867742-178867751 chr5:178867742-178867751 chr5:178867743-178867752 chr5:178867736-178867757 chr5:178867740-178867753
3	BHLHE40	chr5:178868515-178868770	K562	blood:	n/a	chr5:178868635-178868644 chr5:178868636-178868645 chr5:178868634-178868647 chr5:178868630-178868651 chr5:178868636-178868645 chr5:178868637-178868646
4	CBX3	chr5:178820032-178820533	HCT-116	colon:	n/a	n/a
5	CBX3	chr5:178826992-178827587	K562	blood:	n/a	n/a
6	CBX3	chr5:178827067-178827261	K562	blood:	n/a	n/a
7	CEBPB	chr5:178858441-178858825	Hela-S3	cervix:	n/a	n/a
8	CEBPB	chr5:178858362-178858799	MCF-7	breast:	n/a	n/a
9	CEBPB	chr5:178858452-178858788	H1-hESC	embryonic stem cell:	n/a	n/a
10	CEBPB	chr5:178820041-178820297	A549	lung:	n/a	n/a
11	CEBPB	chr5:178858409-178858867	MCF-7	breast:	n/a	n/a
12	CEBPB	chr5:178819993-178820453	IMR90	lung:	n/a	n/a
13	CEBPB	chr5:178858449-178858788	HepG2	liver:	n/a	n/a
14	CEBPB	chr5:178858431-178858818	A549	lung:	n/a	n/a
15	CEBPB	chr5:178820035-178820283	K562	blood:	n/a	n/a
16	CEBPB	chr5:178819935-178820575	HCT-116	colon:	n/a	n/a
17	CEBPB	chr5:178820068-178820405	MCF-7	breast:	n/a	n/a
18	CEBPB	chr5:178858455-178858788	IMR90	lung:	n/a	n/a
19	CEBPB	chr5:178858440-178858814	A549	lung:	n/a	n/a
20	CEBPB	chr5:178858474-178858798	K562	blood:	n/a	n/a
21	CEBPB	chr5:178820005-178820443	Hela-S3	cervix:	n/a	n/a
22	CEBPZ	chr5:178827169-178827241	HepG2	liver:	n/a	n/a
23	CEBPZ	chr5:178853499-178853583	HepG2	liver:	n/a	n/a
24	CTCF	chr5:178831420-178831570	RPTEC	kidney:	n/a	chr5:178831487-178831505 chr5:178831489-178831502 chr5:178831482-178831503
25	CTCF	chr5:178831420-178831570	HCM	heart:	n/a	chr5:178831487-178831505 chr5:178831489-178831502 chr5:178831482-178831503
26	CTCF	chr5:178831400-178831550	SK-N-SH_RA	brain:	n/a	chr5:178831487-178831505 chr5:178831489-178831502 chr5:178831482-178831503
27	CTCF	chr5:178831420-178831570	GM12865	blood:	n/a	chr5:178831487-178831505 chr5:178831489-178831502 chr5:178831482-178831503
28	CTCF	chr5:178831420-178831570	HRPEpiC	eye:	n/a	chr5:178831487-178831505 chr5:178831489-178831502 chr5:178831482-178831503
29	CTCF	chr5:178831444-178831577	H1-hESC	embryonic stem cell:	n/a	chr5:178831487-178831505 chr5:178831489-178831502 chr5:178831482-178831503
30	CTCF	chr5:178831397-178831677	MCF-7	breast:	n/a	chr5:178831604-178831622 chr5:178831487-178831505 chr5:178831489-178831502 chr5:178831606-178831627 chr5:178831482-178831503
31	CTCF	chr5:178831404-178831587	A549	lung:	n/a	chr5:178831487-178831505 chr5:178831489-178831502 chr5:178831482-178831503
32	CTCF	chr5:178831420-178831570	AoAF	blood vessel:	n/a	chr5:178831487-178831505 chr5:178831489-178831502 chr5:178831482-178831503
33	CTCF	chr5:178831457-178831480	Kidney_OC	kidney:	n/a	n/a
34	CTCF	chr5:178831454-178831542	GM12891	blood:	n/a	chr5:178831487-178831505 chr5:178831489-178831502 chr5:178831482-178831503
35	CTCF	chr5:178859643-178859771	K562	blood:	n/a	n/a
36	CTCF	chr5:178831420-178831570	HPAF	blood vessel:	n/a	chr5:178831487-178831505 chr5:178831489-178831502 chr5:178831482-178831503
37	CTCF	chr5:178831380-178831530	WI-38	lung:	n/a	chr5:178831487-178831505 chr5:178831489-178831502 chr5:178831482-178831503
38	CTCF	chr5:178831420-178831570	Hela-S3	cervix:	n/a	chr5:178831487-178831505 chr5:178831489-178831502 chr5:178831482-178831503
39	CTCF	chr5:178831440-178831590	NHLF	lung:	n/a	chr5:178831487-178831505 chr5:178831489-178831502 chr5:178831482-178831503
40	CTCF	chr5:178831404-178831602	Hela-S3	cervix:	n/a	chr5:178831487-178831505 chr5:178831489-178831502 chr5:178831482-178831503
41	CTCF	chr5:178859600-178859750	HCT-116	colon:	n/a	n/a
42	CTCF	chr5:178859620-178859770	SK-N-SH_RA	brain:	n/a	n/a
43	CTCF	chr5:178859660-178859810	WERI-Rb-1	eye:	n/a	n/a
44	CTCF	chr5:178831421-178831569	K562	blood:	n/a	chr5:178831487-178831505 chr5:178831489-178831502 chr5:178831482-178831503
45	CTCF	chr5:178813997-178814067	Lung_OC	lung:	n/a	n/a
46	CTCF	chr5:178831404-178831551	SK-N-SH_RA	brain:	n/a	chr5:178831487-178831505 chr5:178831489-178831502 chr5:178831482-178831503
47	CTCF	chr5:178831420-178831570	AG09309	skin:	n/a	chr5:178831487-178831505 chr5:178831489-178831502 chr5:178831482-178831503
48	CTCF	chr5:178853240-178853390	GM12873	blood:	n/a	n/a
49	CTCF	chr5:178831483-178831568	GM19239	blood:	n/a	chr5:178831487-178831505 chr5:178831489-178831502
50	CTCF	chr5:178831420-178831570	HBMEC	blood vessel:	n/a	chr5:178831487-178831505 chr5:178831489-178831502 chr5:178831482-178831503

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:178835980-178836030	GM06990	blood:	n/a
2	chr5:178835980-178836030	GM06990	blood:	n/a
3	chr5:178854202-178854252	NT2-D1	testis:	n/a
4	chr5:178854758-178854808	Caco-2	colon:	n/a
5	chr5:178854502-178854552	HepG2	liver:	n/a
6	chr5:178833490-178833540	HEEpiC	esophagus:	n/a
7	chr5:178854758-178854808	AG04449	skin:	fetal
8	chr5:178846740-178846790	AG04450	lung:	fetal
9	chr5:178835885-178835935	CMK	blood:	n/a
10	chr5:178835980-178836030	PrEC	prostate:	n/a
11	chr5:178846740-178846790	A549	lung:	n/a
12	chr5:178833490-178833540	HRE	kidney:	n/a
13	chr5:178854502-178854552	AG04450	lung:	fetal
14	chr5:178854502-178854552	HPAEpiC	pulmonary alveolar:	n/a
15	chr5:178854265-178854315	SK-N-SH	brain:	n/a
16	chr5:178854502-178854552	Hepatocyte	liver:	n/a
17	chr5:178846740-178846790	AoSMC	blood vessel:	n/a
18	chr5:178835885-178835935	HIPEpiC	eye:	n/a
19	chr5:178854758-178854808	AG09309	skin:	n/a
20	chr5:178835980-178836030	SAEC	small airway:	n/a
21	chr5:178833490-178833540	PFSK-1	brain:	n/a
22	chr5:178835943-178835993	H1-hESC	embryonic stem cell:	embryo
23	chr5:178854758-178854808	HMEC	breast:	n/a
24	chr5:178835885-178835935	SK-N-SH	brain:	n/a
25	chr5:178835943-178835993	AoSMC	blood vessel:	n/a
26	chr5:178854265-178854315	IMR90	lung:	fetal
27	chr5:178835885-178835935	HEK293	kidney:	embryo
28	chr5:178854202-178854252	PrEC	prostate:	n/a
29	chr5:178854586-178854636	HRCEpiC	kidney:	n/a
30	chr5:178854586-178854636	HCPEpiC	choroid plexus:	n/a
31	chr5:178854202-178854252	SK-N-SH	brain:	n/a
32	chr5:178835980-178836030	CMK	blood:	n/a
33	chr5:178835980-178836030	SK-N-MC	brain:	n/a
34	chr5:178846740-178846790	PFSK-1	brain:	n/a
35	chr5:178854758-178854808	SK-N-SH	brain:	n/a
36	chr5:178835943-178835993	HPAEpiC	pulmonary alveolar:	n/a
37	chr5:178846740-178846790	MCF10A-Er-Src	breast:	n/a
38	chr5:178833490-178833540	SK-N-SH	brain:	n/a
39	chr5:178854502-178854552	BJ	skin:	n/a
40	chr5:178854202-178854252	HEEpiC	esophagus:	n/a
41	chr5:178854202-178854252	HMEC	breast:	n/a
42	chr5:178854502-178854552	AG09309	skin:	n/a
43	chr5:178835885-178835935	HCF	heart:	n/a
44	chr5:178833490-178833540	AG09319	gingival:	n/a
45	chr5:178854502-178854552	HRCEpiC	kidney:	n/a
46	chr5:178854202-178854252	HepG2	liver:	n/a
47	chr5:178854586-178854636	GM12892	blood:	n/a
48	chr5:178833490-178833540	HL-60	blood:	n/a
49	chr5:178846740-178846790	SK-N-SH_RA	brain:	n/a
50	chr5:178854586-178854636	H1-hESC	embryonic stem cell:	embryo

No.	Distal block	Cell Line	Cell type
1	chr5:178840253..178841953-chr5:178842013..178844118,2	K562	blood:
2	chr12:72186780..72187498-chr5:178846162..178846680,2	MCF-7	breast:
3	chr5:178834706..178836824-chr5:178848454..178851441,2	K562	blood:
4	chr5:178848461..178850011-chr5:178850961..178853110,2	MCF-7	breast:
5	chr5:178843393..178845957-chr5:178846634..178848163,2	K562	blood:
6	chr5:178807790..178810700-chr5:178813434..178815392,2	MCF-7	breast:
7	chr5:178847716..178849702-chr5:178850729..178853201,2	K562	blood:
8	chr5:178762053..178764261-chr5:178817559..178819340,2	K562	blood:
9	chr5:178848461..178850011-chr5:178850961..178853110,2	MCF-7	breast:
10	chr5:178844770..178846299-chr5:178846428..178847929,2	MCF-7	breast:
11	chr5:178840253..178841953-chr5:178842013..178844118,2	K562	blood:
12	chr5:178847716..178849702-chr5:178850729..178853201,2	K562	blood:
13	chr5:178815571..178817876-chr5:178818215..178820763,3	MCF-7	breast:
14	chr5:178837251..178839356-chr5:178856114..178858488,2	MCF-7	breast:
15	chr5:178811806..178815884-chr5:178836936..178839970,3	MCF-7	breast:
16	chr5:178844770..178846299-chr5:178846428..178847929,2	MCF-7	breast:
17	chr5:178837251..178839356-chr5:178856114..178858488,2	MCF-7	breast:
18	chr5:178815571..178817876-chr5:178818215..178820763,3	MCF-7	breast:
19	chr5:178871548..178873217-chr5:178880850..178883062,2	MCF-7	breast:
20	chr5:178834706..178836824-chr5:178848454..178851441,2	K562	blood:
21	chr5:178843393..178845957-chr5:178846634..178848163,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RUFY1-5	chr5:178816913-178817202	l_3076_chr5:178815797-178817202_testes
2	lnc-RUFY1-5	chr5:178815798-178815892	l_3076_chr5:178815797-178817202_testes
3	lnc-RUFY1-5	chr5:178816320-178816597	l_3076_chr5:178815797-178817202_testes

Variant related genes	Relation type
ENSG00000253617	TF binding region
ENSG00000253617	CpG island
ENSG00000253617	chromatin interactions
ENSG00000250674	chromatin interactions

Extended variants
information (count: 2298 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:2298 , 50 per page) page: 1 2 3 4 5 6 7 ... 46

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555864	chr5:178813207-178813208	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs571579172	chr5:178813216-178813217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs538650084	chr5:178813236-178813237	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs556895117	chr5:178813305-178813306	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs684723	chr5:178813424-178813425	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs371528646	chr5:178813437-178813438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs4700803	chr5:178813448-178813449	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs536345016	chr5:178813471-178813472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs554777418	chr5:178813474-178813475	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs146327133	chr5:178813560-178813561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs528849047	chr5:178813617-178813618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs116478176	chr5:178813626-178813627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs371884767	chr5:178813634-178813635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs13167270	chr5:178813657-178813658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs13167271	chr5:178813660-178813661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs577163931	chr5:178813684-178813685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs544238507	chr5:178813719-178813720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs541560112	chr5:178813766-178813767	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs529821304	chr5:178813776-178813777	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs547958709	chr5:178813796-178813797	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs560156349	chr5:178813900-178813901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs148517555	chr5:178813947-178813948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs561655677	chr5:178814010-178814011	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs474437	chr5:178814026-178814027	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs474444	chr5:178814029-178814030	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs9329071	chr5:178814127-178814128	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs569136364	chr5:178814139-178814140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs536793491	chr5:178814144-178814145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs150149627	chr5:178814148-178814149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs34161894	chr5:178814149-178814150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs533029324	chr5:178814172-178814173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs141823414	chr5:178814179-178814180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs475633	chr5:178814198-178814199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs9329072	chr5:178814202-178814203	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs533727251	chr5:178814211-178814212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs111904420	chr5:178814213-178814214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs139938672	chr5:178814263-178814264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs144833753	chr5:178814286-178814287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs147941064	chr5:178814290-178814291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs549651984	chr5:178814291-178814292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs140059857	chr5:178814295-178814296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs192742436	chr5:178814315-178814316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs591144	chr5:178814345-178814346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs560013240	chr5:178814359-178814360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs527351662	chr5:178814380-178814381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs62396783	chr5:178814446-178814447	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs540460535	chr5:178814458-178814459	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs565115811	chr5:178814476-178814477	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs183807230	chr5:178814503-178814504	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs550981682	chr5:178814524-178814525	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

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
Acute lymphoblastic leukemia	20435627	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
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
small cell lung cancer	20016488	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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:177 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:178812800-178813400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr5:178813000-178813600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr5:178813600-178816600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr5:178814400-178814600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
5	chr5:178814400-178815400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr5:178816600-178820000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr5:178818600-178819800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr5:178818800-178821800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr5:178819800-178820600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr5:178820000-178820400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr5:178820400-178821600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr5:178820600-178821000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr5:178821000-178821200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr5:178821200-178821400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr5:178829600-178833200	Weak transcription	Ovary	ovary
16	chr5:178830400-178830600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr5:178831200-178831400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr5:178831200-178831400	Enhancers	Osteobl	bone
19	chr5:178831600-178832200	Enhancers	Spleen	Spleen
20	chr5:178831800-178832000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
21	chr5:178831800-178832000	Bivalent Enhancer	Fetal Stomach	stomach
22	chr5:178832200-178832600	Weak transcription	Spleen	Spleen
23	chr5:178832200-178832800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr5:178832200-178834800	Enhancers	Fetal Muscle Leg	muscle
25	chr5:178832600-178832800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr5:178832600-178832800	Enhancers	Spleen	Spleen
27	chr5:178832600-178835200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
28	chr5:178832800-178833400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr5:178832800-178833600	Bivalent Enhancer	Fetal Stomach	stomach
30	chr5:178832800-178834400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
31	chr5:178832800-178834600	Weak transcription	Spleen	Spleen
32	chr5:178832800-178835200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr5:178833000-178833200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr5:178833000-178834800	Enhancers	Placenta	Placenta
35	chr5:178833000-178835000	Enhancers	Fetal Lung	lung
36	chr5:178833200-178833600	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr5:178833200-178833800	Enhancers	Duodenum Smooth Muscle	Duodenum
38	chr5:178833200-178834200	Enhancers	NHDF-Ad	bronchial
39	chr5:178833200-178834800	Enhancers	Ovary	ovary
40	chr5:178833200-178835000	Enhancers	Adipose Nuclei	Adipose
41	chr5:178833200-178835800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr5:178833400-178834600	Enhancers	Osteobl	bone
43	chr5:178833400-178834800	Enhancers	Skeletal Muscle Male	skeletal muscle
44	chr5:178833400-178835000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr5:178833400-178835200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr5:178833400-178835800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr5:178833600-178834000	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr5:178833600-178835200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr5:178833600-178835400	Enhancers	Fetal Stomach	stomach
50	chr5:178833800-178834400	Weak transcription	Duodenum Smooth Muscle	Duodenum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links