Variant report

Variant	nsv881728
Chromosome Location	chr5:61630879-61857577
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2929)
CpG islands
(count:2019)
Chromatin interactive
region (count:211)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:10)

(count:2929 , 50 per page) page: 1 2 3 4 5 6 7 ... 59

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr5:61739604-61739817	HepG2	liver:	n/a	n/a
2	ARID3A	chr5:61687693-61687715	K562	blood:	n/a	n/a
3	ARID3A	chr5:61834143-61834798	K562	blood:	n/a	n/a
4	ARID3A	chr5:61718577-61718677	K562	blood:	n/a	n/a
5	ARID3A	chr5:61728417-61729030	K562	blood:	n/a	n/a
6	ARID3A	chr5:61636213-61636522	K562	blood:	n/a	n/a
7	ARID3A	chr5:61708184-61708675	K562	blood:	n/a	chr5:61708575-61708583
8	ARID3A	chr5:61699656-61699817	K562	blood:	n/a	n/a
9	ARID3A	chr5:61649868-61650221	K562	blood:	n/a	n/a
10	ARID3A	chr5:61699036-61700109	HepG2	liver:	n/a	n/a
11	ARID3A	chr5:61739584-61739797	K562	blood:	n/a	n/a
12	ARID3A	chr5:61716815-61717971	K562	blood:	n/a	chr5:61717891-61717907
13	ARID3A	chr5:61707715-61708665	HepG2	liver:	n/a	chr5:61708575-61708583
14	ATF1	chr5:61782636-61782747	K562	blood:	n/a	n/a
15	ATF1	chr5:61671894-61672228	K562	blood:	n/a	n/a
16	ATF1	chr5:61717262-61717608	K562	blood:	n/a	n/a
17	ATF1	chr5:61716180-61716305	K562	blood:	n/a	n/a
18	ATF1	chr5:61834328-61834785	K562	blood:	n/a	n/a
19	ATF1	chr5:61728495-61728807	K562	blood:	n/a	n/a
20	ATF1	chr5:61773463-61773905	K562	blood:	n/a	n/a
21	ATF1	chr5:61708286-61709349	K562	blood:	n/a	chr5:61708563-61708577
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	chr5:61699045-61700071	GM12878	blood:	n/a	n/a
25	ATF2	chr5:61698223-61698688	GM12878	blood:	n/a	n/a
26	ATF2	chr5:61698225-61698704	GM12878	blood:	n/a	n/a
27	ATF2	chr5:61699181-61699707	GM12878	blood:	n/a	n/a
28	ATF2	chr5:61708124-61709032	GM12878	blood:	n/a	chr5:61708563-61708577
29	ATF2	chr5:61708440-61708760	H1-hESC	embryonic stem cell:	n/a	chr5:61708563-61708577
30	ATF3	chr5:61708420-61708788	HepG2	liver:	n/a	chr5:61708564-61708577
31	ATF3	chr5:61728423-61728847	K562	blood:	n/a	n/a
32	ATF3	chr5:61708263-61708782	A549	lung:	n/a	chr5:61708564-61708577
33	ATF3	chr5:61708318-61708800	A549	lung:	n/a	chr5:61708564-61708577
34	ATF3	chr5:61708358-61708742	H1-hESC	embryonic stem cell:	n/a	chr5:61708564-61708577
35	ATF3	chr5:61708417-61708746	HepG2	liver:	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	chr5:61708384-61708745	K562	blood:	n/a	chr5:61708564-61708577
40	ATF3	chr5:61708295-61708898	H1-hESC	embryonic stem cell:	n/a	chr5:61708564-61708577
41	BACH1	chr5:61708495-61708921	H1-hESC	embryonic stem cell:	n/a	n/a
42	BACH1	chr5:61681544-61681781	K562	blood:	n/a	n/a
43	BACH1	chr5:61699604-61699737	K562	blood:	n/a	n/a
44	BACH1	chr5:61739279-61739313	H1-hESC	embryonic stem cell:	n/a	n/a
45	BACH1	chr5:61823230-61823237	K562	blood:	n/a	n/a
46	BACH1	chr5:61699200-61700159	H1-hESC	embryonic stem cell:	n/a	n/a
47	BACH1	chr5:61671903-61672298	K562	blood:	n/a	chr5:61672102-61672116
48	BACH1	chr5:61833258-61833381	K562	blood:	n/a	n/a
49	BACH1	chr5:61792631-61793055	H1-hESC	embryonic stem cell:	n/a	n/a
50	BACH1	chr5:61834564-61834771	K562	blood:	n/a	n/a

(count:2019 , 50 per page) page: 1 2 3 4 5 6 7 ... 41

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:61708328-61708378	HL-60	blood:	n/a
2	chr5:61705333-61705383	NHBE	bronchial:	n/a
3	chr5:61684420-61684470	HRCEpiC	kidney:	n/a
4	chr5:61699876-61699926	HCF	heart:	n/a
5	chr5:61699834-61699884	HAEpiC	amniotic membrane:	n/a
6	chr5:61708991-61709041	GM06990	blood:	n/a
7	chr5:61708328-61708378	HL-60	blood:	n/a
8	chr5:61705333-61705383	NHBE	bronchial:	n/a
9	chr5:61684420-61684470	HRCEpiC	kidney:	n/a
10	chr5:61699876-61699926	HCF	heart:	n/a
11	chr5:61699834-61699884	HAEpiC	amniotic membrane:	n/a
12	chr5:61708991-61709041	GM06990	blood:	n/a
13	chr5:61713646-61713696	ProgFib	skin:	n/a
14	chr5:61699868-61699918	SK-N-MC	brain:	n/a
15	chr5:61818801-61818851	CMK	blood:	n/a
16	chr5:61698089-61698139	AG10803	skin:	n/a
17	chr5:61705333-61705383	AG09309	skin:	n/a
18	chr5:61844855-61844905	CMK	blood:	n/a
19	chr5:61708404-61708454	AG04449	skin:	fetal
20	chr5:61714607-61714657	SK-N-MC	brain:	n/a
21	chr5:61699841-61699891	HAEpiC	amniotic membrane:	n/a
22	chr5:61708404-61708454	H1-hESC	embryonic stem cell:	embryo
23	chr5:61818801-61818851	HCM	heart:	n/a
24	chr5:61713646-61713696	LNCaP	prostate:	n/a
25	chr5:61700164-61700214	NHBE	bronchial:	n/a
26	chr5:61708653-61708703	Hela-S3	cervix:	n/a
27	chr5:61700048-61700098	ovcar-3	ovarian:	n/a
28	chr5:61699957-61700007	AG09309	skin:	n/a
29	chr5:61708395-61708445	ECC-1	luminal epithelium:	n/a
30	chr5:61698089-61698139	Caco-2	colon:	n/a
31	chr5:61708440-61708490	Jurkat	blood:	n/a
32	chr5:61708640-61708690	HCPEpiC	choroid plexus:	n/a
33	chr5:61708433-61708483	GM12878	blood:	n/a
34	chr5:61708328-61708378	Hela-S3	cervix:	n/a
35	chr5:61700164-61700214	ECC-1	luminal epithelium:	n/a
36	chr5:61711946-61711996	GM06990	blood:	n/a
37	chr5:61699957-61700007	SK-N-MC	brain:	n/a
38	chr5:61700048-61700098	NT2-D1	testis:	n/a
39	chr5:61700048-61700098	GM12878	blood:	n/a
40	chr5:61708653-61708703	Hepatocyte	liver:	n/a
41	chr5:61708991-61709041	HMEC	breast:	n/a
42	chr5:61708991-61709041	HEEpiC	esophagus:	n/a
43	chr5:61700048-61700098	Hepatocyte	liver:	n/a
44	chr5:61699416-61699466	Hela-S3	cervix:	n/a
45	chr5:61818801-61818851	ovcar-3	ovarian:	n/a
46	chr5:61713646-61713696	GM19239	blood:	n/a
47	chr5:61684420-61684470	SKMC	muscle:	n/a
48	chr5:61699692-61699742	NB4	blood:	n/a
49	chr5:61714607-61714657	H1-hESC	embryonic stem cell:	embryo
50	chr5:61682030-61682080	HUVEC	blood vessel:	n/a

(count:211 , 50 per page) page: 1 2 3 4 5

No.	Distal block	Cell Line	Cell type
1	chr5:61711964..61713989-chr5:61715756..61717777,2	MCF-7	breast:
2	chr5:61827589..61829469-chr5:61829575..61831772,2	MCF-7	breast:
3	chr5:61671360..61674176-chr5:61674605..61678360,3	MCF-7	breast:
4	chr5:61687760..61696371-chr5:61696777..61701236,17	K562	blood:
5	chr5:61622184..61624632-chr5:61629178..61631603,3	K562	blood:
6	chr5:61747217..61749290-chr5:61754763..61757506,2	K562	blood:
7	chr5:61660448..61662458-chr5:61663921..61666770,2	K562	blood:
8	chr5:61662283..61664182-chr5:61672693..61674594,2	MCF-7	breast:
9	chr5:61601958..61603491-chr5:61698096..61700949,2	MCF-7	breast:
10	chr5:61717104..61719301-chr5:61731721..61733854,2	K562	blood:
11	chr5:61672184..61674043-chr5:61676926..61679179,3	K562	blood:
12	chr5:61709715..61711702-chr5:61716368..61718393,2	MCF-7	breast:
13	chr5:61686012..61687975-chr5:61698243..61700042,2	MCF-7	breast:
14	chr5:61691849..61694248-chr5:61708571..61710615,2	K562	blood:
15	chr5:61682102..61684562-chr5:61689312..61693081,3	K562	blood:
16	chr5:61756074..61756595-chr5:61927958..61928492,2	MCF-7	breast:
17	chr5:61680177..61684134-chr5:61684359..61686623,3	K562	blood:
18	chr5:61601612..61603523-chr5:61647478..61650855,3	MCF-7	breast:
19	chr5:61684677..61686970-chr5:61690927..61693209,3	K562	blood:
20	chr5:61683430..61685907-chr5:61688335..61689954,2	MCF-7	breast:
21	chr5:61747217..61749290-chr5:61754763..61757506,2	K562	blood:
22	chr5:61826046..61828158-chr5:61830735..61833492,2	K562	blood:
23	chr5:61697532..61701694-chr5:61703408..61710603,12	MCF-7	breast:
24	chr5:61680177..61684134-chr5:61684359..61686623,3	K562	blood:
25	chr5:61708675..61710194-chr5:61723245..61724819,2	K562	blood:
26	chr5:61708461..61710165-chr5:61727180..61730029,2	K562	blood:
27	chr5:61697532..61701694-chr5:61703408..61710603,12	MCF-7	breast:
28	chr5:61687157..61690332-chr5:61692436..61695603,4	K562	blood:
29	chr5:61680991..61682651-chr5:61682681..61685489,2	MCF-7	breast:
30	chr5:61679991..61682016-chr5:61697548..61699312,2	MCF-7	breast:
31	chr5:61709715..61711702-chr5:61716368..61718393,2	MCF-7	breast:
32	chr5:61719601..61722587-chr5:61724504..61726966,2	MCF-7	breast:
33	chr5:61833161..61835046-chr5:61842892..61845396,3	K562	blood:
34	chr5:61684677..61686970-chr5:61690927..61693209,3	K562	blood:
35	chr5:61696731..61700669-chr5:61725889..61729809,4	MCF-7	breast:
36	chr5:61705281..61708194-chr5:61728089..61730384,3	K562	blood:
37	chr5:61662283..61664182-chr5:61672693..61674594,2	MCF-7	breast:
38	chr5:61682102..61684562-chr5:61689312..61693081,3	K562	blood:
39	chr5:61715203..61717539-chr5:61717631..61720268,2	K562	blood:
40	chr5:61637038..61639616-chr5:61644276..61647073,2	MCF-7	breast:
41	chr3:150264346..150265088-chr5:61707993..61708938,2	Hela-S3	cervix:
42	chr5:61698481..61701475-chr5:61702171..61705225,3	K562	blood:
43	chr5:61687643..61690637-chr5:61717431..61720022,2	K562	blood:
44	chr5:61622009..61624604-chr5:61628091..61630897,2	K562	blood:
45	chr5:61793500..61795640-chr5:61797559..61799676,2	K562	blood:
46	chr5:61717104..61719301-chr5:61731721..61733854,2	K562	blood:
47	chr5:61698247..61701529-chr5:61710344..61713394,4	K562	blood:
48	chr5:61638389..61640483-chr5:61640496..61643629,3	K562	blood:
49	chr5:61682628..61684149-chr5:61691709..61694293,2	MCF-7	breast:
50	chr5:61688987..61691804-chr5:61707990..61709990,3	K562	blood:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LRRC70-4	chr5:61717996-61718437	expReg_chr5_2466_+
2	lnc-LRRC70-1	chr5:61856523-61856832	NONHSAT101713
3	lnc-LRRC70-3	chr5:61718444-61719366	expReg_chr5_2467_+
4	lnc-LRRC70-1	chr5:61856963-61857084	NONHSAT101713

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-215-5p	chr5:61684806-61684826
3	KIF2A	hsa-miR-1	chr5:61682052-61682075
4	KIF2A	hsa-miR-1	chr5:61681910-61681931
5	KIF2A	hsa-miR-183-5p	chr5:61682014-61682021
6	KIF2A	hsa-miR-16-5p	chr5:61681406-61681413
7	KIF2A	hsa-miR-16-5p	chr5:61681397-61681413
8	DIMT1L	hsa-miR-101-3p	chr5:61684519-61684539
9	DIMT1L	hsa-miR-192-5p	chr5:61684806-61684826
10	KIF2A	hsa-miR-183-5p	chr5:61681997-61682021

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

Extended variants
information (count: 8695 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:8695 , 50 per page) page: 1 2 3 4 5 6 7 ... 174

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs264524	chr5:61630879-61630880	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs34633874	chr5:61630920-61630921	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs532809580	chr5:61630925-61630926	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs569952264	chr5:61630932-61630933	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs538838731	chr5:61630938-61630939	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs376297673	chr5:61630955-61630956	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs34265209	chr5:61630985-61630986	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs532462919	chr5:61631009-61631010	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs566005732	chr5:61631015-61631016	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs535026793	chr5:61631136-61631137	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs11748930	chr5:61631143-61631144	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs574883756	chr5:61631202-61631203	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs536583628	chr5:61631243-61631244	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs541559930	chr5:61631266-61631267	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs190390548	chr5:61631268-61631269	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs576326234	chr5:61631280-61631281	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs117554272	chr5:61631301-61631302	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs564999229	chr5:61631304-61631305	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs182536564	chr5:61631332-61631333	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs541115428	chr5:61631358-61631359	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs149124347	chr5:61631361-61631362	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs529628825	chr5:61631391-61631392	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs72767091	chr5:61631441-61631442	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs563613694	chr5:61631446-61631447	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs188106259	chr5:61631450-61631451	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs566524447	chr5:61631467-61631468	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs190945432	chr5:61631479-61631480	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs264523	chr5:61631496-61631497	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs532584482	chr5:61631522-61631523	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs114755472	chr5:61631578-61631579	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs548685183	chr5:61631593-61631594	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs568493255	chr5:61631598-61631599	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs143159547	chr5:61631620-61631621	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs556512197	chr5:61631660-61631661	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs114127613	chr5:61631762-61631763	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs538826996	chr5:61631770-61631771	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs558516231	chr5:61631822-61631823	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs572192967	chr5:61631833-61631834	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs540762816	chr5:61631870-61631871	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs182848759	chr5:61631881-61631882	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs574120478	chr5:61631903-61631904	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs542982798	chr5:61631985-61631986	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs563648466	chr5:61631987-61631988	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs532649500	chr5:61631994-61631995	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs546475416	chr5:61632032-61632033	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs547889132	chr5:61632071-61632072	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs368087243	chr5:61632076-61632077	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs264522	chr5:61632104-61632105	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs188894579	chr5:61632152-61632153	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs264521	chr5:61632175-61632176	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:4977 , 50 per page) page: 1 2 3 4 5 6 7 ... 100

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:61603400-61658600	Weak transcription	Aorta	Aorta
2	chr5:61604400-61643800	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr5:61604600-61658600	Weak transcription	Fetal Kidney	kidney
4	chr5:61607800-61669400	Weak transcription	NHLF	lung
5	chr5:61610200-61658600	Weak transcription	Ovary	ovary
6	chr5:61611600-61639000	Weak transcription	HMEC	breast
7	chr5:61611600-61643800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr5:61612000-61642400	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr5:61612000-61661000	Weak transcription	Colon Smooth Muscle	Colon
10	chr5:61615600-61658600	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr5:61618200-61647800	Weak transcription	Duodenum Mucosa	Duodenum
12	chr5:61618400-61658600	Weak transcription	Hela-S3	cervix
13	chr5:61621600-61631600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr5:61621800-61638000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr5:61622400-61633400	Weak transcription	HUVEC	blood vessel
16	chr5:61622400-61676000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr5:61622600-61643800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr5:61622600-61658800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr5:61623000-61643000	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr5:61623000-61646200	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr5:61623800-61643800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr5:61623800-61658600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr5:61624000-61669600	Weak transcription	Rectal Smooth Muscle	rectum
24	chr5:61625400-61644000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr5:61625400-61646200	Weak transcription	Adipose Nuclei	Adipose
26	chr5:61626600-61631800	Weak transcription	A549	lung
27	chr5:61626600-61639000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr5:61627000-61631000	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr5:61628000-61638000	Weak transcription	Small Intestine	intestine
30	chr5:61628200-61644400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr5:61628600-61631200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
32	chr5:61628800-61631800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr5:61628800-61632000	Strong transcription	Dnd41	blood
34	chr5:61628800-61652000	Weak transcription	Fetal Brain Female	brain
35	chr5:61629000-61631200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr5:61629000-61631200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr5:61629000-61631200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
38	chr5:61629000-61631200	Strong transcription	Thymus	Thymus
39	chr5:61629000-61631400	Strong transcription	Fetal Intestine Small	intestine
40	chr5:61629000-61635400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr5:61629200-61631000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr5:61629200-61631000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr5:61629200-61631200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr5:61629200-61631400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr5:61629200-61631400	Genic enhancers	Primary T cells fromperipheralblood	blood
46	chr5:61629200-61631400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
47	chr5:61629200-61631400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr5:61629200-61631400	Strong transcription	GM12878-XiMat	blood
49	chr5:61629200-61676400	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr5:61629400-61631200	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood

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