Variant report

Variant	nsv1051472
Chromosome Location	chr11:75851880-75922608
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1901)
CpG islands
(count:2872)
Chromatin interactive
region (count:110)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:2)

(count:1901 , 50 per page) page: 1 2 3 4 5 6 7 ... 39

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:75860104-75860534	HepG2	liver:	n/a	n/a
2	ARID3A	chr11:75864561-75864736	HepG2	liver:	n/a	n/a
3	ARID3A	chr11:75919860-75920108	HepG2	liver:	n/a	n/a
4	ATF2	chr11:75877385-75877776	GM12878	blood:	n/a	n/a
5	ATF2	chr11:75877442-75877843	GM12878	blood:	n/a	n/a
6	ATF3	chr11:75919853-75920215	A549	lung:	n/a	n/a
7	ATF3	chr11:75919783-75920220	A549	lung:	n/a	n/a
8	BACH1	chr11:75918709-75918900	K562	blood:	n/a	n/a
9	BACH1	chr11:75863315-75863554	K562	blood:	n/a	n/a
10	BACH1	chr11:75863235-75863689	H1-hESC	embryonic stem cell:	n/a	n/a
11	BACH1	chr11:75916750-75916926	H1-hESC	embryonic stem cell:	n/a	n/a
12	BACH1	chr11:75918583-75919316	H1-hESC	embryonic stem cell:	n/a	n/a
13	BACH1	chr11:75921380-75922316	H1-hESC	embryonic stem cell:	n/a	n/a
14	BACH1	chr11:75919833-75920847	H1-hESC	embryonic stem cell:	n/a	n/a
15	BATF	chr11:75863157-75863483	GM12878	blood:	n/a	n/a
16	BATF	chr11:75877503-75877745	GM12878	blood:	n/a	n/a
17	BATF	chr11:75880507-75880811	GM12878	blood:	n/a	n/a
18	BATF	chr11:75880537-75880793	GM12878	blood:	n/a	n/a
19	BATF	chr11:75877452-75877791	GM12878	blood:	n/a	n/a
20	BCL11A	chr11:75880481-75880847	GM12878	blood:	n/a	chr11:75880797-75880806
21	BCL11A	chr11:75877511-75877755	GM12878	blood:	n/a	chr11:75877743-75877752
22	BCL11A	chr11:75877450-75877789	GM12878	blood:	n/a	chr11:75877743-75877752
23	BCL3	chr11:75919791-75920256	A549	lung:	n/a	chr11:75919827-75919836
24	BCL3	chr11:75918338-75918916	A549	lung:	n/a	chr11:75918813-75918822
25	BHLHE40	chr11:75863190-75864725	GM12878	blood:	n/a	n/a
26	BHLHE40	chr11:75918605-75918909	K562	blood:	n/a	n/a
27	BHLHE40	chr11:75918623-75918961	GM12878	blood:	n/a	n/a
28	BHLHE40	chr11:75921554-75922195	HepG2	liver:	n/a	chr11:75921944-75921960 chr11:75921941-75921957
29	BHLHE40	chr11:75879567-75879848	K562	blood:	n/a	n/a
30	BHLHE40	chr11:75918652-75918875	HepG2	liver:	n/a	n/a
31	BHLHE40	chr11:75863130-75863541	K562	blood:	n/a	n/a
32	BHLHE40	chr11:75880588-75880997	GM12878	blood:	n/a	n/a
33	BHLHE40	chr11:75859336-75859565	HepG2	liver:	n/a	n/a
34	BHLHE40	chr11:75919847-75920073	GM12878	blood:	n/a	n/a
35	BHLHE40	chr11:75868229-75868428	K562	blood:	n/a	n/a
36	BHLHE40	chr11:75877454-75877762	GM12878	blood:	n/a	n/a
37	BHLHE40	chr11:75895960-75896047	K562	blood:	n/a	n/a
38	BHLHE40	chr11:75917372-75917610	K562	blood:	n/a	chr11:75917535-75917551
39	BHLHE40	chr11:75874343-75874668	HepG2	liver:	n/a	chr11:75874506-75874515 chr11:75874499-75874520 chr11:75874505-75874514 chr11:75874505-75874514 chr11:75874504-75874513
40	BHLHE40	chr11:75874344-75874627	K562	blood:	n/a	chr11:75874506-75874515 chr11:75874499-75874520 chr11:75874505-75874514 chr11:75874505-75874514 chr11:75874504-75874513
41	BHLHE40	chr11:75917520-75917589	GM12878	blood:	n/a	chr11:75917535-75917551
42	BHLHE40	chr11:75874450-75874566	GM12878	blood:	n/a	chr11:75874506-75874515 chr11:75874499-75874520 chr11:75874505-75874514 chr11:75874505-75874514 chr11:75874504-75874513
43	BRCA1	chr11:75918536-75918947	Hela-S3	cervix:	n/a	n/a
44	BRCA1	chr11:75864332-75864403	GM12878	blood:	n/a	n/a
45	BRCA1	chr11:75919889-75920503	Hela-S3	cervix:	n/a	n/a
46	BRCA1	chr11:75859962-75860259	HepG2	liver:	n/a	n/a
47	BRCA1	chr11:75863059-75863180	GM12878	blood:	n/a	n/a
48	BRCA1	chr11:75863097-75863611	Hela-S3	cervix:	n/a	n/a
49	BRCA1	chr11:75860608-75860664	HepG2	liver:	n/a	n/a
50	BRCA1	chr11:75917362-75917369	Hela-S3	cervix:	n/a	n/a

(count:2872 , 50 per page) page: 1 2 3 4 5 6 7 ... 58

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:75918630-75918680	AoSMC	blood vessel:	n/a
2	chr11:75863530-75863580	NHDF-neo	bronchial:	n/a
3	chr11:75921808-75921858	LNCaP	prostate:	n/a
4	chr11:75897427-75897477	AoSMC	blood vessel:	n/a
5	chr11:75898203-75898253	MCF-7	breast:	n/a
6	chr11:75918630-75918680	AoSMC	blood vessel:	n/a
7	chr11:75863530-75863580	NHDF-neo	bronchial:	n/a
8	chr11:75921808-75921858	LNCaP	prostate:	n/a
9	chr11:75897427-75897477	AoSMC	blood vessel:	n/a
10	chr11:75898203-75898253	MCF-7	breast:	n/a
11	chr11:75916460-75916510	HEEpiC	esophagus:	n/a
12	chr11:75917982-75918032	AG10803	skin:	n/a
13	chr11:75852437-75852487	GM19239	blood:	n/a
14	chr11:75898203-75898253	HCPEpiC	choroid plexus:	n/a
15	chr11:75875926-75875976	SK-N-SH_RA	brain:	n/a
16	chr11:75896332-75896382	HNPCEpiC	eye:	n/a
17	chr11:75921808-75921858	MCF10A-Er-Src	breast:	n/a
18	chr11:75898132-75898182	HNPCEpiC	eye:	n/a
19	chr11:75920233-75920283	HRPEpiC	eye:	n/a
20	chr11:75921810-75921860	MCF10A-Er-Src	breast:	n/a
21	chr11:75852355-75852405	SAEC	small airway:	n/a
22	chr11:75920233-75920283	NB4	blood:	n/a
23	chr11:75917404-75917454	BE2_C	brain:	n/a
24	chr11:75875926-75875976	HEEpiC	esophagus:	n/a
25	chr11:75917404-75917454	Hepatocyte	liver:	n/a
26	chr11:75905718-75905768	HEK293	kidney:	embryo
27	chr11:75875926-75875976	SK-N-MC	brain:	n/a
28	chr11:75917724-75917774	RPTEC	kidney:	n/a
29	chr11:75922323-75922373	MCF10A-Er-Src	breast:	n/a
30	chr11:75917404-75917454	HCM	heart:	n/a
31	chr11:75921808-75921858	RPTEC	kidney:	n/a
32	chr11:75875926-75875976	AG04450	lung:	fetal
33	chr11:75875926-75875976	HepG2	liver:	n/a
34	chr11:75879348-75879398	HCT-116	colon:	n/a
35	chr11:75918089-75918139	NHDF-neo	bronchial:	n/a
36	chr11:75898132-75898182	PFSK-1	brain:	n/a
37	chr11:75919862-75919912	GM12891	blood:	n/a
38	chr11:75920278-75920328	GM12892	blood:	n/a
39	chr11:75875926-75875976	NHBE	bronchial:	n/a
40	chr11:75922172-75922222	K562	blood:	n/a
41	chr11:75852355-75852405	ProgFib	skin:	n/a
42	chr11:75917844-75917894	NB4	blood:	n/a
43	chr11:75875926-75875976	Hepatocyte	liver:	n/a
44	chr11:75898203-75898253	AG09319	gingival:	n/a
45	chr11:75917353-75917403	HEK293	kidney:	embryo
46	chr11:75904184-75904234	SK-N-SH_RA	brain:	n/a
47	chr11:75852389-75852439	AoSMC	blood vessel:	n/a
48	chr11:75905850-75905900	PFSK-1	brain:	n/a
49	chr11:75918630-75918680	LNCaP	prostate:	n/a
50	chr11:75904184-75904234	Hepatocyte	liver:	n/a

(count:110 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr11:75871119..75872885-chr11:75874380..75876840,2	MCF-7	breast:
2	chr11:75607743..75608566-chr11:75860272..75860889,2	K562	blood:
3	chr11:75607508..75608588-chr11:75862991..75863892,5	MCF-7	breast:
4	chr11:75878808..75880535-chr11:75885544..75887523,2	K562	blood:
5	chr11:75855694..75857259-chr11:75861740..75864650,2	K562	blood:
6	chr11:75913612..75915944-chr11:75916007..75917749,2	K562	blood:
7	chr11:75916539..75918756-chr11:75919573..75922083,2	MCF-7	breast:
8	chr11:75879470..75881382-chr11:75903439..75906024,2	MCF-7	breast:
9	chr11:75864698..75867155-chr11:75871013..75872936,2	MCF-7	breast:
10	chr11:75857248..75857816-chr11:76029548..76030103,2	K562	blood:
11	chr11:75895372..75898295-chr11:75906346..75908229,2	K562	blood:
12	chr11:75607077..75608544-chr11:75862937..75863839,5	K562	blood:
13	chr11:75864249..75865220-chr11:76029478..76030050,2	MCF-7	breast:
14	chr11:75886596..75888940-chr11:75889618..75892110,2	MCF-7	breast:
15	chr11:75919700..75922037-chr11:76092044..76093720,2	MCF-7	breast:
16	chr11:75526830..75528448-chr11:75885826..75888721,2	K562	blood:
17	chr11:75918335..75919414-chr11:76029518..76030460,11	K562	blood:
18	chr11:75858885..75860766-chr11:75865503..75867457,2	K562	blood:
19	chr1:156698046..156698801-chr11:75908969..75909469,2	Hela-S3	cervix:
20	chr11:75892849..75895759-chr11:75897789..75899434,2	K562	blood:
21	chr11:75898285..75900069-chr11:75902238..75904019,2	K562	blood:
22	chr11:75896186..75898075-chr11:75909574..75912491,2	K562	blood:
23	chr11:75864528..75867031-chr11:75871798..75873454,2	K562	blood:
24	chr11:75872410..75875308-chr11:75879381..75883436,3	K562	blood:
25	chr11:75918665..75919393-chr11:76002890..76003539,3	MCF-7	breast:
26	chr11:75919537..75920594-chr11:76028825..76030444,6	MCF-7	breast:
27	chr11:75839101..75840628-chr11:75849802..75852307,2	MCF-7	breast:
28	chr11:75895025..75897686-chr11:75910991..75913944,2	K562	blood:
29	chr11:75907463..75909415-chr11:75917684..75920104,2	MCF-7	breast:
30	chr11:75879470..75881382-chr11:75903439..75906024,2	MCF-7	breast:
31	chr11:75892849..75895480-chr11:75897932..75899434,2	K562	blood:
32	chr11:75918395..75919729-chr11:75947370..75948224,3	K562	blood:
33	chr11:75898285..75900069-chr11:75902238..75904019,2	K562	blood:
34	chr11:75863959..75864459-chr7:152795919..152796557,2	MCF-7	breast:
35	chr11:75878808..75880535-chr11:75885544..75887523,2	K562	blood:
36	chr11:75877596..75879712-chr11:75888366..75889930,2	K562	blood:
37	chr11:75862929..75863882-chr11:76029395..76030079,4	K562	blood:
38	chr11:75865596..75868388-chr11:75876534..75879243,2	K562	blood:
39	chr11:75918273..75920931-chr11:75945404..75947823,5	MCF-7	breast:
40	chr11:75867883..75870652-chr11:75871506..75874252,2	MCF-7	breast:
41	chr11:75888382..75891358-chr11:75893738..75896231,2	MCF-7	breast:
42	chr11:75881616..75884148-chr11:75897760..75900480,2	MCF-7	breast:
43	chr11:75886596..75888940-chr11:75889618..75892110,2	MCF-7	breast:
44	chr11:75887769..75890550-chr11:75903812..75906303,2	K562	blood:
45	chr11:75916539..75918756-chr11:75919573..75922083,2	MCF-7	breast:
46	chr11:75634439..75636281-chr11:75851410..75853874,2	MCF-7	breast:
47	chr11:75918736..75920705-chr11:76028307..76032444,3	MCF-7	breast:
48	chr11:75892849..75895480-chr11:75897932..75899434,2	K562	blood:
49	chr11:75895372..75898295-chr11:75906346..75908229,2	K562	blood:
50	chr11:75908679..75911274-chr11:75914998..75917762,2	K562	blood:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-UVRAG-2	chr11:75901769-75901950	ENSG00000254933.1
2	lnc-UVRAG-2	chr11:75905685-75906115	ENSG00000254933.1
3	lnc-WNT11-1	chr11:75922000-75922293	ENSG00000255362
4	lnc-PRKRIR-3	chr11:75917466-75917542	NONHSAT023149
5	lnc-PRKRIR-3	chr11:75921391-75921774	NONHSAT023149

No data

(count:2 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	UVRAG	hsa-miR-32-5p	chr11:75853509-75853515
2	UVRAG	hsa-miR-32-5p	chr11:75853494-75853516

Variant related genes	Relation type
ENSG00000255421	TF binding region
WNT11	TF binding region
ENSG00000254933	TF binding region
ENSG00000255421	CpG island
WNT11	CpG island
ENSG00000254933	CpG island
ENSG00000158636	chromatin interactions
ENSG00000255135	chromatin interactions
ENSG00000179240	chromatin interactions
ENSG00000143303	chromatin interactions
ENSG00000137492	chromatin interactions
ENSG00000143319	chromatin interactions
ENSG00000254933	chromatin interactions
ENSG00000085741	chromatin interactions
ENSG00000255421	chromatin interactions

Extended variants
information (count: 3105 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:3105 , 50 per page) page: 1 2 3 4 5 6 7 ... 63

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373653993	chr11:75851887-75851888	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs139881214	chr11:75851894-75851895	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs143874379	chr11:75851896-75851897	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs367829979	chr11:75851902-75851903	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs370498729	chr11:75851911-75851912	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs576036854	chr11:75851926-75851927	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs535573886	chr11:75851937-75851938	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs11825644	chr11:75851956-75851957	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs572118480	chr11:75851978-75851979	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs148697568	chr11:75851985-75851986	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs142156359	chr11:75851990-75851991	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs534676953	chr11:75851997-75851998	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs151198998	chr11:75852074-75852075	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs139069263	chr11:75852076-75852077	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs374765591	chr11:75852077-75852078	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs144048829	chr11:75852085-75852086	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs146466983	chr11:75852086-75852087	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs573996282	chr11:75852088-75852089	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs368218749	chr11:75852091-75852092	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs140800355	chr11:75852092-75852093	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs113297118	chr11:75852097-75852098	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs145399752	chr11:75852103-75852104	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs553484615	chr11:75852112-75852113	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs200073911	chr11:75852113-75852114	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs375334287	chr11:75852128-75852129	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs11540513	chr11:75852137-75852138	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs201846822	chr11:75852147-75852148	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs372890913	chr11:75852167-75852168	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs149222690	chr11:75852182-75852183	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs199960445	chr11:75852202-75852203	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs143327438	chr11:75852203-75852204	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs150174890	chr11:75852211-75852212	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs201509843	chr11:75852215-75852216	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs140477390	chr11:75852275-75852276	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs200438816	chr11:75852279-75852280	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs61894380	chr11:75852323-75852324	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs78373689	chr11:75852345-75852346	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs78673379	chr11:75852355-75852356	Strong transcription Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs138436357	chr11:75852356-75852357	Strong transcription Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs533287646	chr11:75852376-75852377	Strong transcription Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs199523374	chr11:75852389-75852390	Strong transcription Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs372725086	chr11:75852390-75852391	Strong transcription Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs376856411	chr11:75852399-75852400	Strong transcription Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs569873877	chr11:75852429-75852430	Weak transcription Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs201485090	chr11:75852436-75852437	Weak transcription Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs186359906	chr11:75852438-75852439	Weak transcription Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs636420	chr11:75852448-75852449	Weak transcription Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs147254159	chr11:75852449-75852450	Weak transcription Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs377343935	chr11:75852471-75852472	Weak transcription Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs370539583	chr11:75852473-75852474	Weak transcription Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:99)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Glioblastoma multiforme	21138945	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Glioblastoma multiforme	21080181	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Melanoma	18172304	CNVD
Breast cancer	22002566	CNVD
Ductal carcinoma	18381933	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	20953835	CNVD
oto-dental syndrome	17656375	CNVD
Asthma	21956041	CNVD
Breast cancer	17603634	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	20864512	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21509527	CNVD
Breast cancer	17001317	CNVD
Oral squamous cell carcinoma	16619035	CNVD
Intracranial aneurysm	16715129	CNVD
Colorectal cancer	16272173	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Colorectal cancer	16882699	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668395	CNVD
Spinal muscular atrophy	17668395	CNVD
Neonatal seizures	17668395	CNVD
Neonatal seizures	17668391	CNVD
Neuroticism	17667963	CNVD
Cancer	17916600	CNVD
Squamous cell cancer	19047905	CNVD
Multiple endocrine neoplasia type 1	19566914	CNVD
XY sex reversal	17503084	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668391	CNVD
Maculopathy	17646752	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17157792	CNVD
Esophageal squamous carcinoma	18350619	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
lymphocytic leukemia	21291569	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Breast cancer	16620391	CNVD
Multiple myeloma	17550852	CNVD
Neuroblastoma	18923191	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Multiple myeloma	16616336	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	17217626	CNVD
Cancer	22429812	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21482786	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	16608533	CNVD
Usher syndrome	18421352	CNVD
Breast cancer	21858162	CNVD
Ovarian cancer	21240255	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:2186 , 50 per page) page: 1 2 3 4 5 6 7 ... 44

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75822000-75852200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr11:75825800-75852800	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr11:75826000-75862800	Weak transcription	Hela-S3	cervix
4	chr11:75832000-75861200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr11:75832400-75852000	Weak transcription	Fetal Intestine Large	intestine
6	chr11:75832600-75857600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr11:75832800-75859400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr11:75833000-75854400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr11:75833000-75862800	Weak transcription	K562	blood
10	chr11:75833400-75855000	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr11:75833400-75872800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr11:75834400-75862800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr11:75838400-75852200	Weak transcription	Primary hematopoietic stem cells	blood
14	chr11:75839800-75852000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr11:75839800-75858000	Weak transcription	Pancreas	Pancrea
16	chr11:75841200-75862800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr11:75843200-75859400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr11:75843400-75853800	Weak transcription	Brain Hippocampus Middle	brain
19	chr11:75843400-75858000	Weak transcription	Right Atrium	heart
20	chr11:75843600-75852000	Weak transcription	Small Intestine	intestine
21	chr11:75843600-75853000	Weak transcription	Brain Substantia Nigra	brain
22	chr11:75843600-75862600	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr11:75843800-75852200	Weak transcription	Duodenum Mucosa	Duodenum
24	chr11:75843800-75859800	Weak transcription	Rectal Smooth Muscle	rectum
25	chr11:75843800-75863000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr11:75843800-75863000	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr11:75843800-75863000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr11:75844000-75861200	Weak transcription	NHEK	skin
29	chr11:75844200-75863000	Weak transcription	Brain Angular Gyrus	brain
30	chr11:75844600-75856400	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr11:75846600-75863200	Weak transcription	Fetal Kidney	kidney
32	chr11:75846800-75852000	Weak transcription	Ovary	ovary
33	chr11:75846800-75852600	Weak transcription	Osteobl	bone
34	chr11:75847000-75852000	Weak transcription	Fetal Lung	lung
35	chr11:75847000-75852400	Weak transcription	HUVEC	blood vessel
36	chr11:75847000-75853800	Weak transcription	Brain Germinal Matrix	brain
37	chr11:75847000-75863400	Weak transcription	Psoas Muscle	Psoas
38	chr11:75847200-75852000	Weak transcription	Fetal Brain Female	brain
39	chr11:75848600-75852800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr11:75849400-75858000	Weak transcription	Fetal Brain Male	brain
41	chr11:75849800-75862800	Weak transcription	Esophagus	oesophagus
42	chr11:75850000-75853000	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr11:75850200-75852000	Weak transcription	Colonic Mucosa	Colon
44	chr11:75850400-75854600	Strong transcription	Primary B cells from cord blood	blood
45	chr11:75850400-75854800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
46	chr11:75850600-75855000	Strong transcription	Primary B cells from peripheral blood	blood
47	chr11:75851000-75852000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr11:75851200-75854800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr11:75851200-75855800	Strong transcription	Monocytes-CD14+_RO01746	blood
50	chr11:75851200-75863400	Weak transcription	Placenta Amnion	Placenta Amnion

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