Variant report

Variant	nsv1029288
Chromosome Location	chr5:42928085-43047323
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7270)
CpG islands
(count:8061)
Chromatin interactive
region (count:324)
LncRNA
region (count:33)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7270 , 50 per page) page: 1 2 3 4 5 6 7 ... 146

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr5:43010773-43011080	HepG2	liver:	n/a	n/a
2	ARID3A	chr5:43027586-43027839	HepG2	liver:	n/a	n/a
3	ARID3A	chr5:42986836-42987079	HepG2	liver:	n/a	n/a
4	ARID3A	chr5:42985717-42985775	K562	blood:	n/a	n/a
5	ARID3A	chr5:43018008-43018406	HepG2	liver:	n/a	n/a
6	ARID3A	chr5:42992168-42992548	K562	blood:	n/a	n/a
7	ARID3A	chr5:42985487-42986024	HepG2	liver:	n/a	n/a
8	ARID3A	chr5:43019857-43020549	HepG2	liver:	n/a	n/a
9	ARID3A	chr5:42986750-42987157	K562	blood:	n/a	n/a
10	ARID3A	chr5:43008609-43009694	HepG2	liver:	n/a	chr5:43009437-43009453
11	ARID3A	chr5:43039688-43039810	K562	blood:	n/a	n/a
12	ARID3A	chr5:43007561-43009056	K562	blood:	n/a	n/a
13	ARID3A	chr5:43040439-43041189	K562	blood:	n/a	n/a
14	ARID3A	chr5:43007861-43008163	HepG2	liver:	n/a	n/a
15	ARID3A	chr5:43040467-43040678	HepG2	liver:	n/a	n/a
16	ARID3A	chr5:43043206-43043650	K562	blood:	n/a	n/a
17	ARID3A	chr5:43009373-43009742	K562	blood:	n/a	chr5:43009437-43009453
18	ARID3A	chr5:42982241-42982769	K562	blood:	n/a	n/a
19	ARID3A	chr5:43042270-43042322	HepG2	liver:	n/a	n/a
20	ARID3A	chr5:43042572-43042743	K562	blood:	n/a	n/a
21	ATF1	chr5:43039959-43041139	K562	blood:	n/a	n/a
22	ATF1	chr5:43041503-43042141	K562	blood:	n/a	n/a
23	ATF1	chr5:43038084-43038332	K562	blood:	n/a	n/a
24	ATF1	chr5:42986728-42987158	K562	blood:	n/a	n/a
25	ATF1	chr5:43007600-43008974	K562	blood:	n/a	n/a
26	ATF1	chr5:42982124-42982317	K562	blood:	n/a	n/a
27	ATF2	chr5:43010439-43011099	GM12878	blood:	n/a	n/a
28	ATF2	chr5:42991454-42992732	GM12878	blood:	n/a	n/a
29	ATF2	chr5:42951212-42951966	GM12878	blood:	n/a	n/a
30	ATF2	chr5:42994547-42995455	GM12878	blood:	n/a	n/a
31	ATF2	chr5:42993914-42994627	GM12878	blood:	n/a	n/a
32	ATF2	chr5:43007968-43009724	GM12878	blood:	n/a	n/a
33	ATF2	chr5:42993159-42993736	GM12878	blood:	n/a	n/a
34	ATF2	chr5:42993779-42994544	GM12878	blood:	n/a	n/a
35	ATF2	chr5:42992858-42993694	GM12878	blood:	n/a	n/a
36	ATF2	chr5:43039421-43041278	GM12878	blood:	n/a	n/a
37	ATF2	chr5:43017864-43018717	GM12878	blood:	n/a	n/a
38	ATF2	chr5:43040012-43041322	GM12878	blood:	n/a	n/a
39	ATF2	chr5:43019417-43020914	GM12878	blood:	n/a	n/a
40	ATF2	chr5:42991792-42992458	GM12878	blood:	n/a	n/a
41	ATF2	chr5:42950606-42951226	GM12878	blood:	n/a	n/a
42	ATF2	chr5:42994704-42995377	GM12878	blood:	n/a	n/a
43	ATF2	chr5:42949154-42949925	GM12878	blood:	n/a	n/a
44	ATF2	chr5:43020082-43020585	GM12878	blood:	n/a	n/a
45	ATF2	chr5:43037858-43038438	GM12878	blood:	n/a	n/a
46	ATF2	chr5:43007386-43009807	GM12878	blood:	n/a	n/a
47	ATF2	chr5:43017730-43018631	GM12878	blood:	n/a	n/a
48	ATF2	chr5:43041815-43043562	GM12878	blood:	n/a	n/a
49	ATF2	chr5:42992072-42992367	H1-hESC	embryonic stem cell:	n/a	n/a
50	ATF2	chr5:43010205-43011106	GM12878	blood:	n/a	n/a

(count:8061 , 50 per page) page: 1 2 3 4 5 6 7 ... 162

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:43008217-43008267	HAEpiC	amniotic membrane:	n/a
2	chr5:43017685-43017735	SK-N-SH	brain:	n/a
3	chr5:43042177-43042227	SAEC	small airway:	n/a
4	chr5:43044573-43044623	HCPEpiC	choroid plexus:	n/a
5	chr5:43040548-43040598	HUVEC	blood vessel:	n/a
6	chr5:43000303-43000353	Caco-2	colon:	n/a
7	chr5:42951346-42951396	K562	blood:	n/a
8	chr5:43042726-43042776	HAEpiC	amniotic membrane:	n/a
9	chr5:43041146-43041196	ECC-1	luminal epithelium:	n/a
10	chr5:43008217-43008267	HAEpiC	amniotic membrane:	n/a
11	chr5:43017685-43017735	SK-N-SH	brain:	n/a
12	chr5:43042177-43042227	SAEC	small airway:	n/a
13	chr5:43044573-43044623	HCPEpiC	choroid plexus:	n/a
14	chr5:43040548-43040598	HUVEC	blood vessel:	n/a
15	chr5:43000303-43000353	Caco-2	colon:	n/a
16	chr5:42951346-42951396	K562	blood:	n/a
17	chr5:43042726-43042776	HAEpiC	amniotic membrane:	n/a
18	chr5:43041146-43041196	ECC-1	luminal epithelium:	n/a
19	chr5:42991495-42991545	MCF10A-Er-Src	breast:	n/a
20	chr5:42944030-42944080	AG10803	skin:	n/a
21	chr5:42993450-42993500	SAEC	small airway:	n/a
22	chr5:43008875-43008925	HPAEpiC	pulmonary alveolar:	n/a
23	chr5:42949542-42949592	BJ	skin:	n/a
24	chr5:43042233-43042283	NB4	blood:	n/a
25	chr5:43041808-43041858	MCF10A-Er-Src	breast:	n/a
26	chr5:42991657-42991707	HIPEpiC	eye:	n/a
27	chr5:43019660-43019710	Jurkat	blood:	n/a
28	chr5:43017685-43017735	HRPEpiC	eye:	n/a
29	chr5:43003251-43003301	NHDF-neo	bronchial:	n/a
30	chr5:42950995-42951045	LNCaP	prostate:	n/a
31	chr5:42992128-42992178	PrEC	prostate:	n/a
32	chr5:43038611-43038661	HEK293	kidney:	embryo
33	chr5:43007320-43007370	HCT-116	colon:	n/a
34	chr5:43038611-43038661	GM19239	blood:	n/a
35	chr5:43000890-43000940	Caco-2	colon:	n/a
36	chr5:43039410-43039460	AG09309	skin:	n/a
37	chr5:43034257-43034307	MCF10A-Er-Src	breast:	n/a
38	chr5:42954752-42954802	GM06990	blood:	n/a
39	chr5:43039867-43039917	GM19239	blood:	n/a
40	chr5:43039867-43039917	AG09319	gingival:	n/a
41	chr5:43014287-43014337	A549	lung:	n/a
42	chr5:42954090-42954140	SK-N-SH	brain:	n/a
43	chr5:43043360-43043410	IMR90	lung:	fetal
44	chr5:42993978-42994028	HIPEpiC	eye:	n/a
45	chr5:43041808-43041858	HCF	heart:	n/a
46	chr5:42951192-42951242	MCF-7	breast:	n/a
47	chr5:43037519-43037569	PFSK-1	brain:	n/a
48	chr5:43008306-43008356	IMR90	lung:	fetal
49	chr5:42952113-42952163	U87	brain:	n/a
50	chr5:43040505-43040555	A549	lung:	n/a

(count:324 , 50 per page) page: 1 2 3 4 5 6 7

No.	Distal block	Cell Line	Cell type
1	chr18:3447374..3450339-chr5:42958722..42960710,2	MCF-7	breast:
2	chr5:42911987..42912980-chr5:42970878..42972001,4	MCF-7	breast:
3	chr12:120633502..120634199-chr5:43008450..43008975,2	NB4	blood:
4	chr5:43024225..43027639-chr5:43033975..43036127,3	K562	blood:
5	chr5:42986506..42989376-chr5:43041459..43043434,3	K562	blood:
6	chr1:181057785..181058379-chr5:42992765..42993475,2	Hela-S3	cervix:
7	chr5:42911041..42912693-chr5:42987765..42989682,2	K562	blood:
8	chr5:42991555..42992778-chr5:43020174..43020852,3	Hela-S3	cervix:
9	chr15:41047428..41048122-chr5:42992753..42993556,2	Hela-S3	cervix:
10	chr5:43009440..43010973-chr5:43027450..43029658,2	MCF-7	breast:
11	chr5:42989588..43001279-chr5:43004636..43014428,32	K562	blood:
12	chr5:42997323..42999020-chr5:43002907..43004699,2	MCF-7	breast:
13	chr12:67662963..67663736-chr5:43018653..43019184,2	Hela-S3	cervix:
14	chr5:43029361..43030941-chr5:43036238..43037788,2	K562	blood:
15	chr14:93673186..93674009-chr5:43017806..43018381,2	Hela-S3	cervix:
16	chr5:43006809..43009457-chr5:43045449..43048396,2	K562	blood:
17	chr5:43002893..43005165-chr5:43042895..43044855,3	K562	blood:
18	chr5:43029265..43030861-chr5:43036238..43038466,2	K562	blood:
19	chr5:42912159..42915403-chr5:43007665..43011079,4	MCF-7	breast:
20	chr5:43006162..43011722-chr5:43063736..43068779,9	MCF-7	breast:
21	chr15:65596756..65597454-chr5:42994721..42995508,2	Hela-S3	cervix:
22	chr5:42994975..42995522-chr5:43039942..43040507,2	Hela-S3	cervix:
23	chr5:43014475..43016471-chr5:43023730..43026437,2	K562	blood:
24	chr5:42923915..42925843-chr5:42928024..42929691,2	K562	blood:
25	chr5:43008295..43011216-chr5:43016929..43019962,5	K562	blood:
26	chr5:42969037..42971723-chr5:42975649..42977780,2	K562	blood:
27	chr16:30669265..30670159-chr5:43017610..43018584,2	Hela-S3	cervix:
28	chr12:26111296..26112113-chr5:43007753..43008544,2	Hela-S3	cervix:
29	chr5:42994975..42995522-chr5:43039942..43040507,2	Hela-S3	cervix:
30	chr11:62420333..62420943-chr5:43009548..43010277,2	Hela-S3	cervix:
31	chr5:42942640..42945683-chr5:42991617..42995259,4	K562	blood:
32	chr5:42989969..42995303-chr5:43120044..43124152,6	K562	blood:
33	chr5:43041491..43043698-chr5:43120008..43122438,3	MCF-7	breast:
34	chr5:43037720..43044659-chr5:43062293..43069444,31	K562	blood:
35	chr5:43020169..43021187-chr5:43105538..43106105,3	MCF-7	breast:
36	chr5:42999330..43002712-chr5:43065180..43068954,4	MCF-7	breast:
37	chr5:43017490..43020535-chr5:43119535..43122363,3	MCF-7	breast:
38	chr5:43036901..43050217-chr5:43060442..43069391,53	MCF-7	breast:
39	chr5:43014273..43017123-chr5:43048431..43050012,2	MCF-7	breast:
40	chr5:42907581..42909848-chr5:43040254..43042169,2	K562	blood:
41	chr5:42909164..42909729-chr5:43039167..43040032,2	K562	blood:
42	chr5:43007105..43008022-chrX:15692584..15693521,2	Hela-S3	cervix:
43	chr19:36705780..36706508-chr5:43019279..43020009,2	Hela-S3	cervix:
44	chr5:42992357..42992951-chr6:26158187..26158692,2	Hela-S3	cervix:
45	chr5:42949709..42952302-chr5:42999079..43000906,2	MCF-7	breast:
46	chr5:43008478..43012422-chr5:43036002..43039064,3	MCF-7	breast:
47	chr5:43007359..43009859-chr5:43011383..43014698,6	MCF-7	breast:
48	chr19:11199685..11200284-chr5:42991786..42992687,2	NB4	blood:
49	chr5:42992588..42993253-chr6:89856283..89856948,2	Hela-S3	cervix:
50	chr5:42953773..42956177-chr5:43040486..43043453,2	K562	blood:

(count:33 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C5orf39-2	chr5:42990941-42991008	XLOC_004803
2	lnc-C5orf39-2	chr5:42991255-42992726	XLOC_004803
3	lnc-ZNF131-2	chr5:43024021-43024199	ENSG00000251131.1
4	lnc-C5orf39-5	chr5:43006835-43007645	ENSG00000271788.1
5	lnc-ZNF131-2	chr5:43024300-43024564	NONHSAT101265
6	lnc-C5orf39-2	chr5:42985140-42985764	XLOC_004803
7	lnc-ZNF131-2	chr5:43023923-43024262	NONHSAT101265
8	lnc-C5orf39-1	chr5:43019638-43019703	XLOC_004804
9	lnc-C5orf39-2	chr5:42990941-42991348	XLOC_004803
10	lnc-ZNF131-2	chr5:43018531-43018774	ENSG00000251131.1
11	lnc-C5orf39-1	chr5:43019638-43019745	NR_104650
12	lnc-ZNF131-1	chr5:43043574-43043669	ENSG00000215068
13	lnc-C5orf39-1	chr5:43014831-43015252	NR_104651
14	lnc-C5orf39-1	chr5:43014831-43015252	NR_104650
15	lnc-C5orf39-1	chr5:43013701-43015252	XLOC_004804
16	lnc-ZNF131-1	chr5:43044801-43044988	ENSG00000215068
17	lnc-ZNF131-2	chr5:43019338-43019418	ENSG00000251131.1
18	lnc-ZNF131-2	chr5:43024301-43024349	ENSG00000251131.1
19	lnc-C5orf39-4	chr5:43021241-43021521	l_2912_chr5:43021240-43027175_prostate
20	lnc-ZNF131-1	chr5:43041859-43041976	ENSG00000215068
21	lnc-C5orf39-7	chr5:42971231-42971776	NONHSAT101239
22	lnc-ZNF131-4	chr5:42950963-42959174	XLOC_004362
23	lnc-C5orf39-4	chr5:43026698-43027176	l_2912_chr5:43021240-43027175_prostate
24	lnc-ZNF131-4	chr5:42960426-42960649	XLOC_004362
25	lnc-C5orf39-2	chr5:42985555-42985625	XLOC_004803
26	lnc-C5orf39-2	chr5:42985708-42985764	XLOC_004803
27	lnc-ZNF131-2	chr5:43024301-43024336	ENSG00000251131.1
28	lnc-ZNF131-2	chr5:43018585-43018774	ENSG00000251131.1
29	lnc-ZNF131-2	chr5:43024301-43024564	XLOC_004364
30	lnc-ZNF131-2	chr5:43024144-43024199	XLOC_004364
31	lnc-C5orf39-1	chr5:43014838-43015252	ENSG00000177738
32	lnc-ZNF131-7	chr5:43033818-43034737	ENSG00000272382.1
33	lnc-ZNF131-8	chr5:43015988-43016668	NONHSAT101257

No data

Variant related genes	Relation type
ENSG00000215068	TF binding region
ENSG00000272382	TF binding region
ENSG00000251131	TF binding region
ANXA2R	TF binding region
ENSG00000271788	TF binding region
ENSG00000250711	TF binding region
ENSG00000177738	TF binding region
ENSG00000215068	CpG island
ENSG00000272382	CpG island
ENSG00000251131	CpG island
ANXA2R	CpG island
ENSG00000271788	CpG island
ENSG00000250711	CpG island
ENSG00000177738	CpG island
ENSG00000261005	chromatin interactions
ENSG00000204388	chromatin interactions
ENSG00000157470	chromatin interactions
ENSG00000249492	chromatin interactions
ENSG00000167136	chromatin interactions
ENSG00000196357	chromatin interactions
ENSG00000199568	chromatin interactions
ENSG00000037474	chromatin interactions
ENSG00000117289	chromatin interactions
ENSG00000184557	chromatin interactions
ENSG00000149532	chromatin interactions
ENSG00000151151	chromatin interactions
ENSG00000153487	chromatin interactions
ENSG00000172757	chromatin interactions
ENSG00000105321	chromatin interactions
ENSG00000167985	chromatin interactions
ENSG00000162676	chromatin interactions
ENSG00000123094	chromatin interactions
ENSG00000163584	chromatin interactions
ENSG00000177721	chromatin interactions
ENSG00000109519	chromatin interactions
ENSG00000272382	chromatin interactions
ENSG00000115875	chromatin interactions
ENSG00000165119	chromatin interactions
ENSG00000200156	chromatin interactions
ENSG00000196866	chromatin interactions
ENSG00000169045	chromatin interactions
ENSG00000177426	chromatin interactions
ENSG00000113384	chromatin interactions
ENSG00000179218	chromatin interactions
ENSG00000272144	chromatin interactions
ENSG00000084710	chromatin interactions
ENSG00000111640	chromatin interactions
ENSG00000128989	chromatin interactions
ENSG00000044574	chromatin interactions
ENSG00000157107	chromatin interactions
ENSG00000184678	chromatin interactions
ENSG00000167635	chromatin interactions
ENSG00000159346	chromatin interactions
ENSG00000166881	chromatin interactions
ENSG00000263080	chromatin interactions
ENSG00000212195	chromatin interactions
ENSG00000123352	chromatin interactions
ENSG00000152601	chromatin interactions
ENSG00000200463	chromatin interactions
ENSG00000215068	chromatin interactions
ENSG00000157483	chromatin interactions
ENSG00000184260	chromatin interactions
ENSG00000105640	chromatin interactions
ENSG00000177954	chromatin interactions
ENSG00000131508	chromatin interactions
ENSG00000130816	chromatin interactions
ENSG00000152147	chromatin interactions
ENSG00000073417	chromatin interactions
ENSG00000156976	chromatin interactions
ENSG00000155330	chromatin interactions
ENSG00000133316	chromatin interactions
ENSG00000258947	chromatin interactions
ENSG00000148950	chromatin interactions
ENSG00000172244	chromatin interactions
ENSG00000103769	chromatin interactions
ENSG00000174851	chromatin interactions
ENSG00000133466	chromatin interactions
ENSG00000138867	chromatin interactions
ENSG00000164104	chromatin interactions
ENSG00000251131	chromatin interactions
ENSG00000125968	chromatin interactions
ENSG00000162409	chromatin interactions
ENSG00000102225	chromatin interactions
ENSG00000197409	chromatin interactions
ENSG00000167220	chromatin interactions
ENSG00000162407	chromatin interactions
ENSG00000248240	chromatin interactions
ENSG00000012963	chromatin interactions
ENSG00000256591	chromatin interactions
ENSG00000112081	chromatin interactions
ENSG00000185085	chromatin interactions
ENSG00000158373	chromatin interactions
ENSG00000151876	chromatin interactions
ENSG00000225721	chromatin interactions
ENSG00000132356	chromatin interactions
ENSG00000240889	chromatin interactions
ENSG00000259006	chromatin interactions
ENSG00000100883	chromatin interactions
ENSG00000142937	chromatin interactions
ENSG00000090266	chromatin interactions
ENSG00000130164	chromatin interactions
ENSG00000175643	chromatin interactions
ENSG00000174282	chromatin interactions
ENSG00000177738	chromatin interactions
ENSG00000156860	chromatin interactions
ENSG00000174485	chromatin interactions
ENSG00000151881	chromatin interactions
ENSG00000136279	chromatin interactions
ENSG00000139372	chromatin interactions
ENSG00000160803	chromatin interactions
ENSG00000181222	chromatin interactions
ENSG00000089280	chromatin interactions
ENSG00000184828	chromatin interactions
ENSG00000109911	chromatin interactions
ENSG00000170270	chromatin interactions
ENSG00000246695	chromatin interactions
ENSG00000168137	chromatin interactions
ENSG00000137824	chromatin interactions
ENSG00000271788	chromatin interactions
ENSG00000239705	chromatin interactions
ENSG00000111530	chromatin interactions
ENSG00000172262	chromatin interactions
ENSG00000186312	chromatin interactions
ENSG00000126768	chromatin interactions
ENSG00000270103	chromatin interactions
ENSG00000251656	chromatin interactions
ENSG00000206573	chromatin interactions
ENSG00000177700	chromatin interactions
ENSG00000264294	chromatin interactions
ENSG00000115548	chromatin interactions
XIAP	miRNA target sites
E2F6	miRNA target sites
ITM2B	miRNA target sites

Extended variants
information (count: 4785 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:4785 , 50 per page) page: 1 2 3 4 5 6 7 ... 96

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12187928	chr5:42928085-42928086	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs528619266	chr5:42928098-42928099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs2548373	chr5:42928100-42928101	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs565289579	chr5:42928106-42928107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs2603632	chr5:42928136-42928137	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs10941595	chr5:42928225-42928226	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs189307167	chr5:42928267-42928268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs114456660	chr5:42928283-42928284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs2603631	chr5:42928295-42928296	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs566518518	chr5:42928306-42928307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs533654645	chr5:42928307-42928308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs77464280	chr5:42928329-42928330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs570161742	chr5:42928337-42928338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs537441982	chr5:42928364-42928365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs116311572	chr5:42928365-42928366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs559137983	chr5:42928369-42928370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs60859843	chr5:42928380-42928381	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs141875234	chr5:42928411-42928412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs555160827	chr5:42928423-42928424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs569635142	chr5:42928536-42928537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs573435814	chr5:42928544-42928545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs150669745	chr5:42928551-42928552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs181216231	chr5:42928558-42928559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs532590624	chr5:42928583-42928584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs544576904	chr5:42928615-42928616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs140105677	chr5:42928616-42928617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs530021513	chr5:42928679-42928680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs142140515	chr5:42928683-42928684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs58298980	chr5:42928690-42928691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs566666116	chr5:42928693-42928694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs116194644	chr5:42928699-42928700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs373355114	chr5:42928708-42928709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs551896443	chr5:42928714-42928715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs2247280	chr5:42928720-42928721	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs555476986	chr5:42928740-42928741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs185871414	chr5:42928760-42928761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs146405176	chr5:42928769-42928770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs552767164	chr5:42928789-42928790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs139750061	chr5:42928873-42928874	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs149673736	chr5:42928880-42928881	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs145445333	chr5:42928937-42928938	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs534382413	chr5:42928950-42928951	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs559126585	chr5:42928976-42928977	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs545293187	chr5:42929009-42929010	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs577388801	chr5:42929010-42929011	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs557035217	chr5:42929024-42929025	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs189026823	chr5:42929055-42929056	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs575636371	chr5:42929076-42929077	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs368240607	chr5:42929078-42929079	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs181462535	chr5:42929085-42929086	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	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
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Cancer	16751803	CNVD
Breast cancer	16608533	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	21720365	CNVD
Lung cancer	18438408	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Hirschsprung''s Disease	21712996	CNVD
Breast cancer	21364760	CNVD
Intellectual disability	21811512	CNVD
Lung adenocarcinoma	21935476	CNVD
Myelofibrosis	22110671	CNVD
Intracranial aneurysm	16715129	CNVD
Multiple myeloma	16616336	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Lung cancer	21569311	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Autism	20531469	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:4606 , 50 per page) page: 1 2 3 4 5 6 7 ... 93

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:42916000-42929400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:42928800-42929200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr5:42929800-42930200	Enhancers	HUVEC	blood vessel
4	chr5:42930000-42931200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr5:42930000-42931200	Enhancers	NHEK	skin
6	chr5:42930000-42931600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr5:42930600-42931000	Enhancers	HMEC	breast
8	chr5:42932000-42932800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr5:42940200-42940400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr5:42940200-42940800	Enhancers	A549	lung
11	chr5:42940400-42941600	Enhancers	HepG2	liver
12	chr5:42940400-42948800	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr5:42940600-42940800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr5:42940800-42941400	Flanking Active TSS	A549	lung
15	chr5:42940800-42944000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr5:42941400-42941800	Enhancers	A549	lung
17	chr5:42941400-42942200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr5:42941800-42942800	Enhancers	Primary neutrophils fromperipheralblood	blood
19	chr5:42941800-42945200	Weak transcription	A549	lung
20	chr5:42943400-42943600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr5:42943400-42944200	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
22	chr5:42943600-42943800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr5:42943600-42943800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr5:42943600-42943800	Active TSS	NH-A	brain
25	chr5:42943600-42943800	Enhancers	NHDF-Ad	bronchial
26	chr5:42943600-42943800	Enhancers	NHLF	lung
27	chr5:42943600-42943800	Enhancers	Osteobl	bone
28	chr5:42943600-42944000	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr5:42943600-42944600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr5:42943600-42944800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr5:42943800-42944000	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr5:42943800-42944000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr5:42943800-42944000	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
34	chr5:42943800-42944000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
35	chr5:42943800-42944000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr5:42943800-42944000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr5:42943800-42944000	Enhancers	Muscle Satellite Cultured Cells	--
38	chr5:42943800-42944000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
39	chr5:42943800-42944000	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr5:42943800-42944000	Enhancers	Adipose Nuclei	Adipose
41	chr5:42943800-42944000	Bivalent Enhancer	Brain Anterior Caudate	brain
42	chr5:42943800-42944000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
43	chr5:42943800-42944000	Flanking Active TSS	NH-A	brain
44	chr5:42943800-42944000	Flanking Active TSS	NHDF-Ad	bronchial
45	chr5:42943800-42944200	Bivalent Enhancer	Brain Angular Gyrus	brain
46	chr5:42943800-42944200	Bivalent Enhancer	Colon Smooth Muscle	Colon
47	chr5:42943800-42944400	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
48	chr5:42943800-42944400	Bivalent Enhancer	Brain Cingulate Gyrus	brain
49	chr5:42943800-42944400	Bivalent Enhancer	Brain Substantia Nigra	brain
50	chr5:42943800-42944600	Active TSS	HUES6 Cell Line	embryonic stem cell

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