Variant report

Variant	nsv880447
Chromosome Location	chr5:42967215-43030798
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4272)
CpG islands
(count:3909)
Chromatin interactive
region (count:220)
LncRNA
region (count:27)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4272 , 50 per page) page: 1 2 3 4 5 6 7 ... 86

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr5:42985717-42985775	K562	blood:	n/a	n/a
2	ARID3A	chr5:43007561-43009056	K562	blood:	n/a	n/a
3	ARID3A	chr5:43010773-43011080	HepG2	liver:	n/a	n/a
4	ARID3A	chr5:43019857-43020549	HepG2	liver:	n/a	n/a
5	ARID3A	chr5:43027586-43027839	HepG2	liver:	n/a	n/a
6	ARID3A	chr5:43007861-43008163	HepG2	liver:	n/a	n/a
7	ARID3A	chr5:43018008-43018406	HepG2	liver:	n/a	n/a
8	ARID3A	chr5:43009373-43009742	K562	blood:	n/a	chr5:43009437-43009453
9	ARID3A	chr5:42982241-42982769	K562	blood:	n/a	n/a
10	ARID3A	chr5:42992168-42992548	K562	blood:	n/a	n/a
11	ARID3A	chr5:43008609-43009694	HepG2	liver:	n/a	chr5:43009437-43009453
12	ARID3A	chr5:42986750-42987157	K562	blood:	n/a	n/a
13	ARID3A	chr5:42985487-42986024	HepG2	liver:	n/a	n/a
14	ARID3A	chr5:42986836-42987079	HepG2	liver:	n/a	n/a
15	ATF1	chr5:43007600-43008974	K562	blood:	n/a	n/a
16	ATF1	chr5:42982124-42982317	K562	blood:	n/a	n/a
17	ATF1	chr5:42986728-42987158	K562	blood:	n/a	n/a
18	ATF2	chr5:43019417-43020914	GM12878	blood:	n/a	n/a
19	ATF2	chr5:42994547-42995455	GM12878	blood:	n/a	n/a
20	ATF2	chr5:42992858-42993694	GM12878	blood:	n/a	n/a
21	ATF2	chr5:43007968-43009724	GM12878	blood:	n/a	n/a
22	ATF2	chr5:43017864-43018717	GM12878	blood:	n/a	n/a
23	ATF2	chr5:43020082-43020585	GM12878	blood:	n/a	n/a
24	ATF2	chr5:42991454-42992732	GM12878	blood:	n/a	n/a
25	ATF2	chr5:42992072-42992367	H1-hESC	embryonic stem cell:	n/a	n/a
26	ATF2	chr5:42993914-42994627	GM12878	blood:	n/a	n/a
27	ATF2	chr5:43010439-43011099	GM12878	blood:	n/a	n/a
28	ATF2	chr5:43017730-43018631	GM12878	blood:	n/a	n/a
29	ATF2	chr5:42993159-42993736	GM12878	blood:	n/a	n/a
30	ATF2	chr5:42991792-42992458	GM12878	blood:	n/a	n/a
31	ATF2	chr5:43010205-43011106	GM12878	blood:	n/a	n/a
32	ATF2	chr5:42993779-42994544	GM12878	blood:	n/a	n/a
33	ATF2	chr5:42994704-42995377	GM12878	blood:	n/a	n/a
34	ATF2	chr5:43007386-43009807	GM12878	blood:	n/a	n/a
35	ATF3	chr5:43008573-43009170	A549	lung:	n/a	n/a
36	ATF3	chr5:43007844-43008401	A549	lung:	n/a	n/a
37	ATF3	chr5:43007644-43008491	A549	lung:	n/a	n/a
38	ATF3	chr5:42994544-42995361	A549	lung:	n/a	n/a
39	ATF3	chr5:42993249-42993693	K562	blood:	n/a	chr5:42993483-42993497
40	ATF3	chr5:43007524-43007865	K562	blood:	n/a	n/a
41	ATF3	chr5:42985277-42985965	HCT-116	colon:	n/a	n/a
42	ATF3	chr5:43017882-43018375	A549	lung:	n/a	n/a
43	ATF3	chr5:43008173-43009006	K562	blood:	n/a	n/a
44	BACH1	chr5:43027960-43028000	K562	blood:	n/a	n/a
45	BACH1	chr5:43017991-43018326	H1-hESC	embryonic stem cell:	n/a	n/a
46	BACH1	chr5:43009835-43009894	K562	blood:	n/a	n/a
47	BACH1	chr5:42992251-42992407	K562	blood:	n/a	n/a
48	BACH1	chr5:43001875-43002171	K562	blood:	n/a	n/a
49	BACH1	chr5:42991476-42991672	H1-hESC	embryonic stem cell:	n/a	n/a
50	BACH1	chr5:42993295-42993491	K562	blood:	n/a	n/a

(count:3909 , 50 per page) page: 1 2 3 4 5 6 7 ... 79

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:42995123-42995173	GM12892	blood:	n/a
2	chr5:43019873-43019923	SKMC	muscle:	n/a
3	chr5:43008875-43008925	MCF10A-Er-Src	breast:	n/a
4	chr5:42998521-42998571	MCF10A-Er-Src	breast:	n/a
5	chr5:42998521-42998571	BJ	skin:	n/a
6	chr5:42995123-42995173	GM12892	blood:	n/a
7	chr5:43019873-43019923	SKMC	muscle:	n/a
8	chr5:43008875-43008925	MCF10A-Er-Src	breast:	n/a
9	chr5:42998521-42998571	MCF10A-Er-Src	breast:	n/a
10	chr5:42998521-42998571	BJ	skin:	n/a
11	chr5:42971223-42971273	SK-N-MC	brain:	n/a
12	chr5:43008819-43008869	AG10803	skin:	n/a
13	chr5:43000890-43000940	MCF-7	breast:	n/a
14	chr5:43020238-43020288	HUVEC	blood vessel:	n/a
15	chr5:43001138-43001188	SAEC	small airway:	n/a
16	chr5:42979395-42979445	HRCEpiC	kidney:	n/a
17	chr5:43017685-43017735	HUVEC	blood vessel:	n/a
18	chr5:42972500-42972550	SK-N-MC	brain:	n/a
19	chr5:43008217-43008267	RPTEC	kidney:	n/a
20	chr5:42971223-42971273	GM12892	blood:	n/a
21	chr5:42995203-42995253	SKMC	muscle:	n/a
22	chr5:43019773-43019823	AG09319	gingival:	n/a
23	chr5:43008875-43008925	HMEC	breast:	n/a
24	chr5:42971223-42971273	HAEpiC	amniotic membrane:	n/a
25	chr5:42994709-42994759	U87	brain:	n/a
26	chr5:42993978-42994028	HEK293	kidney:	embryo
27	chr5:42993450-42993500	ovcar-3	ovarian:	n/a
28	chr5:43007320-43007370	GM19239	blood:	n/a
29	chr5:43018282-43018332	HIPEpiC	eye:	n/a
30	chr5:43000890-43000940	HRPEpiC	eye:	n/a
31	chr5:43017982-43018032	K562	blood:	n/a
32	chr5:42994776-42994826	HRCEpiC	kidney:	n/a
33	chr5:43001138-43001188	ProgFib	skin:	n/a
34	chr5:42971411-42971461	Hepatocyte	liver:	n/a
35	chr5:42992555-42992605	SK-N-MC	brain:	n/a
36	chr5:43000890-43000940	NT2-D1	testis:	n/a
37	chr5:43020451-43020501	MCF10A-Er-Src	breast:	n/a
38	chr5:43017351-43017401	IMR90	lung:	fetal
39	chr5:42992128-42992178	HPAEpiC	pulmonary alveolar:	n/a
40	chr5:43014287-43014337	AG09319	gingival:	n/a
41	chr5:42994776-42994826	AG04449	skin:	fetal
42	chr5:43028642-43028692	HRPEpiC	eye:	n/a
43	chr5:42998521-42998571	NH-A	brain:	n/a
44	chr5:43007847-43007897	HMEC	breast:	n/a
45	chr5:43028642-43028692	GM06990	blood:	n/a
46	chr5:42971223-42971273	NHDF-neo	bronchial:	n/a
47	chr5:43007320-43007370	GM12891	blood:	n/a
48	chr5:43028642-43028692	GM12878	blood:	n/a
49	chr5:42992128-42992178	HepG2	liver:	n/a
50	chr5:42970699-42970749	AoSMC	blood vessel:	n/a

(count:220 , 50 per page) page: 1 2 3 4 5

No.	Distal block	Cell Line	Cell type
1	chr5:43014423..43017348-chr5:43018588..43021322,3	K562	blood:
2	chr5:43007330..43009530-chr5:43039640..43043303,5	MCF-7	breast:
3	chr5:42992357..42992951-chr6:26158187..26158692,2	Hela-S3	cervix:
4	chr1:149815015..149815766-chr5:42992813..42993512,2	Hela-S3	cervix:
5	chr5:43006330..43010322-chr5:43119527..43123237,8	MCF-7	breast:
6	chr5:43022748..43024743-chr5:43030135..43033089,2	MCF-7	breast:
7	chr5:42989723..42997135-chr5:43060250..43070296,19	K562	blood:
8	chr1:57110974..57111787-chr5:43018020..43018793,2	Hela-S3	cervix:
9	chr12:120633502..120634199-chr5:43008450..43008975,2	NB4	blood:
10	chr14:93673186..93674009-chr5:43017806..43018381,2	Hela-S3	cervix:
11	chr5:42911324..42913004-chr5:43008845..43010689,2	K562	blood:
12	chr11:65625774..65626580-chr5:43018226..43018829,2	Hela-S3	cervix:
13	chr5:42999330..43002712-chr5:43065180..43068954,4	MCF-7	breast:
14	chr5:43007833..43008380-chr7:44083842..44084418,2	Hela-S3	cervix:
15	chr5:43010624..43011417-chr5:43065049..43065640,3	K562	blood:
16	chr5:42997323..42999020-chr5:43002907..43004699,2	MCF-7	breast:
17	chr5:43014215..43016341-chr5:43018446..43020762,2	K562	blood:
18	chr5:43027573..43030547-chr5:43038879..43040401,2	MCF-7	breast:
19	chr5:43007638..43008310-chrX:47076739..47077691,2	Hela-S3	cervix:
20	chr5:43005322..43013124-chr5:43037748..43043287,15	K562	blood:
21	chr15:65596756..65597454-chr5:42994721..42995508,2	Hela-S3	cervix:
22	chr5:43013791..43016658-chr5:43037504..43040048,3	K562	blood:
23	chr5:42911987..42912980-chr5:42970878..42972001,4	MCF-7	breast:
24	chr1:28974700..28975242-chr5:43017286..43018210,2	NB4	blood:
25	chr12:67662963..67663736-chr5:43018653..43019184,2	Hela-S3	cervix:
26	chr12:104359505..104360344-chr5:43018121..43018755,2	Hela-S3	cervix:
27	chr5:43007851..43010366-chr5:43021276..43023527,2	K562	blood:
28	chr5:43016477..43018565-chr5:43040554..43042623,2	K562	blood:
29	chr11:61197138..61197795-chr5:43019616..43020599,2	Hela-S3	cervix:
30	chr5:42901504..42902066-chr5:43000326..43000940,2	MCF-7	breast:
31	chr5:42967781..42970008-chr5:42973643..42976450,2	K562	blood:
32	chr3:186501086..186501967-chr5:43017668..43018336,2	Hela-S3	cervix:
33	chr5:42974190..42975842-chr5:42991638..42994075,2	MCF-7	breast:
34	chr5:43007524..43009823-chr5:43029367..43031081,2	K562	blood:
35	chr5:42982268..42984810-chr5:43065924..43068317,2	MCF-7	breast:
36	chr5:43013791..43017090-chr5:43037504..43040048,4	K562	blood:
37	chr5:43026764..43028612-chr5:43039413..43042382,2	K562	blood:
38	chr5:43016725..43019477-chr5:43028965..43031224,3	MCF-7	breast:
39	chr5:42991772..42994897-chr5:42997978..43001031,3	MCF-7	breast:
40	chr5:43006524..43009170-chr5:43481827..43484461,4	K562	blood:
41	chr5:43009440..43010973-chr5:43027450..43029658,2	MCF-7	breast:
42	chr5:42996039..42998077-chr5:43007869..43010510,2	MCF-7	breast:
43	chr5:43005892..43011349-chr5:43037590..43043804,20	K562	blood:
44	chr5:42991975..42992808-chr5:43007900..43008580,2	NB4	blood:
45	chr11:841938..842573-chr5:43017709..43018381,2	Hela-S3	cervix:
46	chr5:43002893..43005165-chr5:43042895..43044855,3	K562	blood:
47	chr5:42908654..42910895-chr5:43006900..43010047,5	MCF-7	breast:
48	chr5:43002310..43004631-chr5:43042636..43045118,2	MCF-7	breast:
49	chr5:43014475..43016471-chr5:43023730..43026437,2	K562	blood:
50	chr5:42949709..42952302-chr5:42999079..43000906,2	MCF-7	breast:

(count:27 , 50 per page) page: 1

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

No data

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

Extended variants
information (count: 2662 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:2662 , 50 per page) page: 1 2 3 4 5 6 7 ... 54

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2924819	chr5:42967215-42967216	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs567010575	chr5:42967256-42967257	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs368260452	chr5:42967316-42967317	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs114829563	chr5:42967351-42967352	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs376400878	chr5:42967381-42967382	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs372215055	chr5:42967406-42967407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs548420771	chr5:42967407-42967408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs556311228	chr5:42967462-42967463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs574798392	chr5:42967470-42967471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs200480214	chr5:42967515-42967516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs398050280	chr5:42967518-42967519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs7730865	chr5:42967555-42967556	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs560406185	chr5:42967578-42967579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs572324811	chr5:42967599-42967600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs534096493	chr5:42967605-42967606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs186783752	chr5:42967611-42967612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs191579407	chr5:42967637-42967638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs549828431	chr5:42967652-42967653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs182330046	chr5:42967654-42967655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs187874365	chr5:42967655-42967656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs192946592	chr5:42967703-42967704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs566868748	chr5:42967731-42967732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs6891660	chr5:42967742-42967743	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs144550002	chr5:42967743-42967744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs371720570	chr5:42967779-42967780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs148046825	chr5:42967795-42967796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs556633860	chr5:42967808-42967809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs62372867	chr5:42967819-42967820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs374771527	chr5:42967822-42967823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs369678398	chr5:42967823-42967824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs112630797	chr5:42967833-42967834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs58607121	chr5:42967849-42967850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs79194188	chr5:42967854-42967855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs535845899	chr5:42967893-42967894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs55798137	chr5:42967915-42967916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs553877690	chr5:42967917-42967918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs367816296	chr5:42967956-42967957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs546107003	chr5:42967977-42967978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs185108292	chr5:42968001-42968002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs190352418	chr5:42968008-42968009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs576330175	chr5:42968020-42968021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs543208955	chr5:42968034-42968035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs561822462	chr5:42968090-42968091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs192491810	chr5:42968109-42968110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs538156692	chr5:42968135-42968136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs541060123	chr5:42968186-42968187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs558905934	chr5:42968194-42968195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs556528218	chr5:42968201-42968202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs184850862	chr5:42968243-42968244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs309921	chr5:42968313-42968314	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:92)

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

Chromatin state (count:2453 , 50 per page) page: 1 2 3 4 5 6 7 ... 50

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:42954800-42982200	Weak transcription	HUVEC	blood vessel
2	chr5:42955000-42972600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr5:42962200-42984400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr5:42966400-42974600	Weak transcription	Primary B cells from peripheral blood	blood
5	chr5:42966600-42972000	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr5:42966600-42972400	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr5:42966800-42972200	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr5:42967000-42985600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr5:42967200-42967400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr5:42967400-42972200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr5:42969400-42969800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr5:42969400-42985400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr5:42970400-42972200	Weak transcription	Thymus	Thymus
14	chr5:42970400-42974600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr5:42970600-42973600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr5:42970600-42977600	Weak transcription	Spleen	Spleen
17	chr5:42970800-42973600	Weak transcription	Primary T cells from cord blood	blood
18	chr5:42970800-42988400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr5:42971000-42971400	Enhancers	Esophagus	oesophagus
20	chr5:42971000-42982400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr5:42971000-42984400	Weak transcription	Primary B cells from cord blood	blood
22	chr5:42971000-42985400	Weak transcription	Primary hematopoietic stem cells	blood
23	chr5:42971200-42971400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr5:42971200-42971400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr5:42971200-42971400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr5:42971200-42971800	Enhancers	Placenta	Placenta
27	chr5:42971400-42972200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr5:42971400-42973600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr5:42971400-42979200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr5:42971800-42978000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr5:42972000-42975200	Strong transcription	Primary T cells fromperipheralblood	blood
32	chr5:42972200-42972600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr5:42972200-42972800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr5:42972200-42972800	Strong transcription	Thymus	Thymus
35	chr5:42972200-42974000	Strong transcription	Primary T helper cells PMA-I stimulated	--
36	chr5:42972200-42975200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr5:42972400-42972600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
38	chr5:42972400-42974600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr5:42972400-42975400	Strong transcription	Primary T helper cells fromperipheralblood	blood
40	chr5:42972400-42982600	Weak transcription	NHDF-Ad	bronchial
41	chr5:42972600-42975000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr5:42972800-42974600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr5:42972800-42974600	Weak transcription	Thymus	Thymus
44	chr5:42972800-42985200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr5:42973200-42974800	Weak transcription	HSMM	muscle
46	chr5:42973200-42985600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr5:42973600-42975200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr5:42973600-42975400	Strong transcription	Primary T cells from cord blood	blood
49	chr5:42974000-42982400	Weak transcription	Primary T helper cells PMA-I stimulated	--
50	chr5:42974200-42975200	Enhancers	NH-A	brain

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