Variant report

Variant	nsv1029708
Chromosome Location	chr5:61625813-61877628
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3136)
CpG islands
(count:2198)
Chromatin interactive
region (count:223)
LncRNA
region (count:9)
Mature miRNA
region (count: 0)
miRNA target
sites (count:10)

(count:3136 , 50 per page) page: 1 2 3 4 5 6 7 ... 63

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr5:61707715-61708665	HepG2	liver:	n/a	chr5:61708575-61708583
2	ARID3A	chr5:61718577-61718677	K562	blood:	n/a	n/a
3	ARID3A	chr5:61739584-61739797	K562	blood:	n/a	n/a
4	ARID3A	chr5:61708184-61708675	K562	blood:	n/a	chr5:61708575-61708583
5	ARID3A	chr5:61649868-61650221	K562	blood:	n/a	n/a
6	ARID3A	chr5:61739604-61739817	HepG2	liver:	n/a	n/a
7	ARID3A	chr5:61636213-61636522	K562	blood:	n/a	n/a
8	ARID3A	chr5:61699036-61700109	HepG2	liver:	n/a	n/a
9	ARID3A	chr5:61728417-61729030	K562	blood:	n/a	n/a
10	ARID3A	chr5:61834143-61834798	K562	blood:	n/a	n/a
11	ARID3A	chr5:61699656-61699817	K562	blood:	n/a	n/a
12	ARID3A	chr5:61716815-61717971	K562	blood:	n/a	chr5:61717891-61717907
13	ARID3A	chr5:61687693-61687715	K562	blood:	n/a	n/a
14	ATF1	chr5:61773463-61773905	K562	blood:	n/a	n/a
15	ATF1	chr5:61671894-61672228	K562	blood:	n/a	n/a
16	ATF1	chr5:61782636-61782747	K562	blood:	n/a	n/a
17	ATF1	chr5:61717262-61717608	K562	blood:	n/a	n/a
18	ATF1	chr5:61708286-61709349	K562	blood:	n/a	chr5:61708563-61708577
19	ATF1	chr5:61728495-61728807	K562	blood:	n/a	n/a
20	ATF1	chr5:61834328-61834785	K562	blood:	n/a	n/a
21	ATF1	chr5:61716180-61716305	K562	blood:	n/a	n/a
22	ATF1	chr5:61639197-61639457	K562	blood:	n/a	n/a
23	ATF2	chr5:61708368-61708770	GM12878	blood:	n/a	chr5:61708563-61708577
24	ATF2	chr5:61708124-61709032	GM12878	blood:	n/a	chr5:61708563-61708577
25	ATF2	chr5:61698225-61698704	GM12878	blood:	n/a	n/a
26	ATF2	chr5:61699181-61699707	GM12878	blood:	n/a	n/a
27	ATF2	chr5:61708440-61708760	H1-hESC	embryonic stem cell:	n/a	chr5:61708563-61708577
28	ATF2	chr5:61870304-61870858	GM12878	blood:	n/a	n/a
29	ATF2	chr5:61699045-61700071	GM12878	blood:	n/a	n/a
30	ATF2	chr5:61698223-61698688	GM12878	blood:	n/a	n/a
31	ATF3	chr5:61708417-61708746	HepG2	liver:	n/a	chr5:61708564-61708577
32	ATF3	chr5:61708295-61708898	H1-hESC	embryonic stem cell:	n/a	chr5:61708564-61708577
33	ATF3	chr5:61708384-61708745	K562	blood:	n/a	chr5:61708564-61708577
34	ATF3	chr5:61728423-61728847	K562	blood:	n/a	n/a
35	ATF3	chr5:61708318-61708800	A549	lung:	n/a	chr5:61708564-61708577
36	ATF3	chr5:61708340-61708806	GM12878	blood:	n/a	chr5:61708564-61708577
37	ATF3	chr5:61708412-61708725	GM12878	blood:	n/a	chr5:61708564-61708577
38	ATF3	chr5:61708404-61708933	K562	blood:	n/a	chr5:61708564-61708577
39	ATF3	chr5:61708420-61708788	HepG2	liver:	n/a	chr5:61708564-61708577
40	ATF3	chr5:61708358-61708742	H1-hESC	embryonic stem cell:	n/a	chr5:61708564-61708577
41	ATF3	chr5:61708263-61708782	A549	lung:	n/a	chr5:61708564-61708577
42	BACH1	chr5:61708072-61708314	K562	blood:	n/a	n/a
43	BACH1	chr5:61708686-61708842	K562	blood:	n/a	n/a
44	BACH1	chr5:61823230-61823237	K562	blood:	n/a	n/a
45	BACH1	chr5:61681544-61681781	K562	blood:	n/a	n/a
46	BACH1	chr5:61865990-61866018	K562	blood:	n/a	n/a
47	BACH1	chr5:61708495-61708921	H1-hESC	embryonic stem cell:	n/a	n/a
48	BACH1	chr5:61847461-61847507	K562	blood:	n/a	n/a
49	BACH1	chr5:61699604-61699737	K562	blood:	n/a	n/a
50	BACH1	chr5:61699200-61700159	H1-hESC	embryonic stem cell:	n/a	n/a

(count:2198 , 50 per page) page: 1 2 3 4 5 6 7 ... 44

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:61874017-61874067	Jurkat	blood:	n/a
2	chr5:61876634-61876684	HEK293	kidney:	embryo
3	chr5:61874017-61874067	Jurkat	blood:	n/a
4	chr5:61876634-61876684	HEK293	kidney:	embryo
5	chr5:61702651-61702701	HEK293	kidney:	embryo
6	chr5:61699834-61699884	NB4	blood:	n/a
7	chr5:61699751-61699801	IMR90	lung:	fetal
8	chr5:61682030-61682080	HAEpiC	amniotic membrane:	n/a
9	chr5:61818801-61818851	SK-N-SH	brain:	n/a
10	chr5:61700048-61700098	AG09319	gingival:	n/a
11	chr5:61700048-61700098	HCT-116	colon:	n/a
12	chr5:61698089-61698139	GM12892	blood:	n/a
13	chr5:61708328-61708378	HNPCEpiC	eye:	n/a
14	chr5:61818801-61818851	BE2_C	brain:	n/a
15	chr5:61708168-61708218	AG04449	skin:	fetal
16	chr5:61699416-61699466	Jurkat	blood:	n/a
17	chr5:61684420-61684470	ovcar-3	ovarian:	n/a
18	chr5:61708427-61708477	AG09309	skin:	n/a
19	chr5:61708427-61708477	HRCEpiC	kidney:	n/a
20	chr5:61708404-61708454	NB4	blood:	n/a
21	chr5:61705333-61705383	AG09319	gingival:	n/a
22	chr5:61699286-61699336	GM06990	blood:	n/a
23	chr5:61708395-61708445	LNCaP	prostate:	n/a
24	chr5:61699841-61699891	HNPCEpiC	eye:	n/a
25	chr5:61700048-61700098	Caco-2	colon:	n/a
26	chr5:61699286-61699336	HL-60	blood:	n/a
27	chr5:61699957-61700007	SK-N-SH	brain:	n/a
28	chr5:61708395-61708445	SK-N-MC	brain:	n/a
29	chr5:61711946-61711996	RPTEC	kidney:	n/a
30	chr5:61699692-61699742	HRCEpiC	kidney:	n/a
31	chr5:61698089-61698139	HMEC	breast:	n/a
32	chr5:61708640-61708690	NT2-D1	testis:	n/a
33	chr5:61700048-61700098	H1-hESC	embryonic stem cell:	embryo
34	chr5:61682030-61682080	PFSK-1	brain:	n/a
35	chr5:61708640-61708690	HEK293	kidney:	embryo
36	chr5:61844855-61844905	RPTEC	kidney:	n/a
37	chr5:61708404-61708454	LNCaP	prostate:	n/a
38	chr5:61708357-61708407	Caco-2	colon:	n/a
39	chr5:61708357-61708407	AG09309	skin:	n/a
40	chr5:61699692-61699742	H1-hESC	embryonic stem cell:	embryo
41	chr5:61708404-61708454	HCPEpiC	choroid plexus:	n/a
42	chr5:61702651-61702701	NHBE	bronchial:	n/a
43	chr5:61709134-61709184	Hela-S3	cervix:	n/a
44	chr5:61699841-61699891	BJ	skin:	n/a
45	chr5:61699868-61699918	NHDF-neo	bronchial:	n/a
46	chr5:61708433-61708483	Hela-S3	cervix:	n/a
47	chr5:61699834-61699884	SK-N-SH	brain:	n/a
48	chr5:61844855-61844905	IMR90	lung:	fetal
49	chr5:61699841-61699891	GM06990	blood:	n/a
50	chr5:61708328-61708378	SK-N-SH_RA	brain:	n/a

(count:223 , 50 per page) page: 1 2 3 4 5

No.	Distal block	Cell Line	Cell type
1	chr5:61675578..61677297-chr5:61689540..61692147,2	K562	blood:
2	chr5:61687760..61696371-chr5:61696777..61701236,17	K562	blood:
3	chr5:61709715..61711702-chr5:61716368..61718393,2	MCF-7	breast:
4	chr5:61705281..61708194-chr5:61728089..61730384,3	K562	blood:
5	chr5:61571856..61574619-chr5:61696505..61699367,2	K562	blood:
6	chr5:61611699..61613753-chr5:61626529..61628835,2	K562	blood:
7	chr5:61698247..61701529-chr5:61710344..61713394,4	K562	blood:
8	chr5:61681285..61683581-chr5:61687311..61688982,2	K562	blood:
9	chr5:61686362..61687960-chr5:61708194..61709938,2	MCF-7	breast:
10	chr5:61635814..61638225-chr5:61640601..61643388,2	K562	blood:
11	chr5:61697532..61701694-chr5:61703408..61710603,12	MCF-7	breast:
12	chr5:61680991..61682651-chr5:61682681..61685489,2	MCF-7	breast:
13	chr5:61708374..61709879-chr5:61712891..61715060,2	MCF-7	breast:
14	chr5:61660448..61662458-chr5:61663921..61666770,2	K562	blood:
15	chr5:61601799..61604714-chr5:61698844..61701505,2	MCF-7	breast:
16	chr5:61680086..61685494-chr5:61685831..61690801,7	MCF-7	breast:
17	chr5:61684677..61686970-chr5:61690927..61693209,3	K562	blood:
18	chr5:61662871..61665721-chr5:61681464..61684214,2	K562	blood:
19	chr5:61686012..61687975-chr5:61698243..61700042,2	MCF-7	breast:
20	chr10:102756791..102757531-chr5:61699378..61699994,2	Hela-S3	cervix:
21	chr5:61781558..61784548-chr5:61790648..61794410,3	K562	blood:
22	chr1:110950335..110950883-chr5:61699378..61700371,2	Hela-S3	cervix:
23	chr5:61645079..61646734-chr5:61646742..61649036,2	K562	blood:
24	chr5:61717104..61719301-chr5:61731721..61733854,2	K562	blood:
25	chr5:61629672..61632580-chr5:61634669..61639677,5	K562	blood:
26	chr5:61671218..61675836-chr5:61680639..61684816,8	K562	blood:
27	chr5:61672184..61674043-chr5:61676926..61679179,3	K562	blood:
28	chr5:61561395..61563266-chr5:61628626..61630582,2	K562	blood:
29	chr5:61716804..61719809-chr5:61726970..61730058,3	K562	blood:
30	chr5:61554817..61557688-chr5:61629619..61631265,2	K562	blood:
31	chr5:61680177..61684134-chr5:61684359..61686623,3	K562	blood:
32	chr5:61696503..61703698-chr5:61706632..61711868,15	MCF-7	breast:
33	chr5:61820977..61823095-chr5:61832322..61835003,2	MCF-7	breast:
34	chr5:61629672..61632580-chr5:61634669..61639677,5	K562	blood:
35	chr5:61622009..61624604-chr5:61628091..61630897,2	K562	blood:
36	chr5:61684677..61686970-chr5:61690927..61693209,3	K562	blood:
37	chr5:61822169..61825461-chr5:61826034..61828796,3	K562	blood:
38	chr5:61833675..61836577-chr5:61862911..61865153,3	K562	blood:
39	chr5:61770750..61773318-chr5:61799934..61802910,2	K562	blood:
40	chr5:61614359..61618770-chr5:61621420..61626796,7	K562	blood:
41	chr5:61671360..61674176-chr5:61674605..61678360,3	MCF-7	breast:
42	chr5:61762888..61765015-chr5:61768126..61770339,2	K562	blood:
43	chr5:61694523..61696770-chr5:61697647..61700221,3	MCF-7	breast:
44	chr5:61683430..61685907-chr5:61688335..61689954,2	MCF-7	breast:
45	chr5:61708461..61710165-chr5:61727180..61730029,2	K562	blood:
46	chr5:61711964..61713989-chr5:61715756..61717777,2	MCF-7	breast:
47	chr5:61622184..61624632-chr5:61629178..61631603,3	K562	blood:
48	chr15:72519248..72520809-chr5:61697872..61699713,2	MCF-7	breast:
49	chr5:61680991..61682651-chr5:61682681..61685489,2	MCF-7	breast:
50	chr5:61561863..61563479-chr5:61638036..61640734,2	K562	blood:

(count:9 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LRRC70-1	chr5:61876281-61877269	NONHSAT101716
2	lnc-LRRC70-3	chr5:61718444-61719366	expReg_chr5_2467_+
3	lnc-LRRC70-1	chr5:61856963-61857084	NONHSAT101713
4	lnc-DIMT1-2	chr5:61871778-61872098	NONHSAT101715
5	lnc-DIMT1-1	chr5:61857686-61858043	NONHSAT101714
6	lnc-LRRC70-1	chr5:61874664-61874762	NONHSAT101716
7	lnc-LRRC70-1	chr5:61875228-61875310	NONHSAT101716
8	lnc-LRRC70-1	chr5:61856523-61856832	NONHSAT101713
9	lnc-LRRC70-4	chr5:61717996-61718437	expReg_chr5_2466_+

No data

(count:10 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	KIF2A	hsa-miR-1	chr5:61681924-61681930
2	DIMT1L	hsa-miR-192-5p	chr5:61684806-61684826
3	KIF2A	hsa-miR-1	chr5:61681910-61681931
4	KIF2A	hsa-miR-1	chr5:61682052-61682075
5	DIMT1L	hsa-miR-101-3p	chr5:61684519-61684539
6	KIF2A	hsa-miR-183-5p	chr5:61682014-61682021
7	KIF2A	hsa-miR-16-5p	chr5:61681397-61681413
8	KIF2A	hsa-miR-183-5p	chr5:61681997-61682021
9	DIMT1L	hsa-miR-215-5p	chr5:61684806-61684826
10	KIF2A	hsa-miR-16-5p	chr5:61681406-61681413

Variant related genes	Relation type
ENSG00000241991	TF binding region
LRRC70	TF binding region
ENSG00000268942	TF binding region
RNU6-661P	TF binding region
KIF2A	TF binding region
IPO11	TF binding region
DIMT1	TF binding region
ENSG00000240436	TF binding region
ENSG00000241991	CpG island
LRRC70	CpG island
ENSG00000268942	CpG island
RNU6-661P	CpG island
KIF2A	CpG island
IPO11	CpG island
DIMT1	CpG island
ENSG00000240436	CpG island
ENSG00000270103	chromatin interactions
ENSG00000245532	chromatin interactions
ENSG00000254732	chromatin interactions
ENSG00000166478	chromatin interactions
ENSG00000144895	chromatin interactions
ENSG00000224699	chromatin interactions
ENSG00000211450	chromatin interactions
ENSG00000121690	chromatin interactions
ENSG00000217416	chromatin interactions
ENSG00000086200	chromatin interactions
ENSG00000068796	chromatin interactions
ENSG00000143479	chromatin interactions
ENSG00000232828	chromatin interactions
ENSG00000237605	chromatin interactions
ENSG00000107816	chromatin interactions
ENSG00000120742	chromatin interactions
ENSG00000086189	chromatin interactions
ENSG00000113407	chromatin interactions
ENSG00000227450	chromatin interactions
ENSG00000175455	chromatin interactions
ENSG00000101224	chromatin interactions
ENSG00000056661	chromatin interactions
ENSG00000134248	chromatin interactions
ENSG00000113387	chromatin interactions

Extended variants
information (count: 9565 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:9565 , 50 per page) page: 1 2 3 4 5 6 7 ... 192

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16890637	chr5:61625813-61625814	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs148968050	chr5:61625830-61625831	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs142844402	chr5:61625918-61625919	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs534829279	chr5:61625943-61625944	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs554422717	chr5:61625944-61625945	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs548927821	chr5:61625988-61625989	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs147669153	chr5:61626004-61626005	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs543154227	chr5:61626005-61626006	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs115840199	chr5:61626028-61626029	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs567341163	chr5:61626100-61626101	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs577621153	chr5:61626156-61626157	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs545359474	chr5:61626171-61626172	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs201979085	chr5:61626177-61626178	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs371066714	chr5:61626217-61626218	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs560003486	chr5:61626238-61626239	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs264530	chr5:61626262-61626263	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs188672090	chr5:61626266-61626267	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs147015283	chr5:61626308-61626309	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs76414081	chr5:61626369-61626370	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs113047244	chr5:61626389-61626390	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs531109680	chr5:61626436-61626437	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs571734602	chr5:61626491-61626492	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs138220778	chr5:61626505-61626506	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs264529	chr5:61626534-61626535	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs180985093	chr5:61626546-61626547	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs576010039	chr5:61626670-61626671	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs185263470	chr5:61626702-61626703	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs534659657	chr5:61626704-61626705	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs556779759	chr5:61626793-61626794	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs554840667	chr5:61626802-61626803	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs202030921	chr5:61626828-61626829	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs568891855	chr5:61626931-61626932	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs190913398	chr5:61626964-61626965	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs536828156	chr5:61627002-61627003	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs376273605	chr5:61627036-61627037	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs543339189	chr5:61627068-61627069	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs545787563	chr5:61627122-61627123	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs552739333	chr5:61627130-61627131	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs572786574	chr5:61627152-61627153	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs183877313	chr5:61627164-61627165	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs562345563	chr5:61627190-61627191	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs531146855	chr5:61627193-61627194	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs544780423	chr5:61627202-61627203	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs112359301	chr5:61627214-61627215	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs187216507	chr5:61627217-61627218	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs547070404	chr5:61627221-61627222	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs201132551	chr5:61627238-61627239	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs566794490	chr5:61627289-61627290	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs529274194	chr5:61627311-61627312	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs149273929	chr5:61627373-61627374	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:96)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
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
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
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
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Prostate cancer	21965145	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	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
Breast cancer	21858162	CNVD
Hepatocellular carcinoma	16750200	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
Acute myeloid leukemia	20729466	CNVD
Acute myeloid leukemia	21251322	CNVD
Oral cancer	21386901	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17133270	CNVD
Breast cancer	19602461	CNVD
Renal cell carcinoma	18194544	CNVD
abnormal development	18461090	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Neuroticism	17667963	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:5644 , 50 per page) page: 1 2 3 4 5 6 7 ... 113

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:61603200-61629200	Weak transcription	Lung	lung
2	chr5:61603200-61629200	Weak transcription	Spleen	Spleen
3	chr5:61603400-61658600	Weak transcription	Aorta	Aorta
4	chr5:61603600-61629200	Weak transcription	Psoas Muscle	Psoas
5	chr5:61603800-61629200	Weak transcription	Left Ventricle	heart
6	chr5:61604000-61629000	Weak transcription	Thymus	Thymus
7	chr5:61604400-61627000	Weak transcription	Fetal Muscle Leg	muscle
8	chr5:61604400-61629200	Weak transcription	Esophagus	oesophagus
9	chr5:61604400-61629400	Weak transcription	Pancreas	Pancrea
10	chr5:61604400-61643800	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr5:61604600-61630000	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr5:61604600-61658600	Weak transcription	Fetal Kidney	kidney
13	chr5:61606800-61629400	Weak transcription	Fetal Thymus	thymus
14	chr5:61607200-61627200	Weak transcription	Fetal Lung	lung
15	chr5:61607200-61629200	Weak transcription	HSMMtube	muscle
16	chr5:61607800-61669400	Weak transcription	NHLF	lung
17	chr5:61610200-61658600	Weak transcription	Ovary	ovary
18	chr5:61610400-61629400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr5:61611400-61629200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr5:61611600-61630200	Weak transcription	Fetal Intestine Large	intestine
21	chr5:61611600-61639000	Weak transcription	HMEC	breast
22	chr5:61611600-61643800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr5:61611800-61630000	Weak transcription	NHEK	skin
24	chr5:61612000-61642400	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr5:61612000-61661000	Weak transcription	Colon Smooth Muscle	Colon
26	chr5:61612200-61628600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr5:61614600-61629000	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr5:61615600-61627200	Weak transcription	Small Intestine	intestine
29	chr5:61615600-61629200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr5:61615600-61658600	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr5:61615800-61627000	Weak transcription	Fetal Brain Male	brain
32	chr5:61618000-61626800	Weak transcription	Fetal Muscle Trunk	muscle
33	chr5:61618000-61629200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr5:61618000-61629200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr5:61618000-61629400	Weak transcription	Fetal Stomach	stomach
36	chr5:61618200-61629600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr5:61618200-61647800	Weak transcription	Duodenum Mucosa	Duodenum
38	chr5:61618400-61629000	Weak transcription	Fetal Intestine Small	intestine
39	chr5:61618400-61629200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr5:61618400-61658600	Weak transcription	Hela-S3	cervix
41	chr5:61618600-61629000	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr5:61618600-61629000	Weak transcription	Monocytes-CD14+_RO01746	blood
43	chr5:61618600-61629400	Weak transcription	Placenta	Placenta
44	chr5:61619200-61630000	Weak transcription	Colonic Mucosa	Colon
45	chr5:61620200-61626400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
46	chr5:61620200-61629200	Enhancers	Brain Substantia Nigra	brain
47	chr5:61620400-61627200	Enhancers	Brain Hippocampus Middle	brain
48	chr5:61620400-61627400	Enhancers	Primary T helper naive cells from peripheral blood	blood
49	chr5:61621000-61628000	Enhancers	Primary T helper cells fromperipheralblood	blood
50	chr5:61621200-61628200	Enhancers	Primary T killer naive cells fromperipheralblood	blood

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