Variant report

Variant	nsv467790
Chromosome Location	chr11:34642493-34780936
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2508)
CpG islands
(count:732)
Chromatin interactive
region (count:98)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:2)

(count:2508 , 50 per page) page: 1 2 3 4 5 6 7 ... 51

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:34707057-34707061	HepG2	liver:	n/a	n/a
2	ARID3A	chr11:34689665-34690249	HepG2	liver:	n/a	n/a
3	ARID3A	chr11:34667925-34667948	K562	blood:	n/a	n/a
4	ARID3A	chr11:34706908-34707346	K562	blood:	n/a	n/a
5	ARID3A	chr11:34686478-34687268	HepG2	liver:	n/a	n/a
6	ARID3A	chr11:34664524-34664676	K562	blood:	n/a	n/a
7	ARID3A	chr11:34673150-34674076	K562	blood:	n/a	n/a
8	ARID3A	chr11:34661875-34662144	HepG2	liver:	n/a	n/a
9	ARID3A	chr11:34655611-34656115	HepG2	liver:	n/a	n/a
10	ARID3A	chr11:34748846-34749059	K562	blood:	n/a	n/a
11	ARID3A	chr11:34675333-34678461	HepG2	liver:	n/a	n/a
12	ATF1	chr11:34687084-34687254	K562	blood:	n/a	n/a
13	ATF1	chr11:34673739-34674051	K562	blood:	n/a	n/a
14	ATF1	chr11:34748782-34749093	K562	blood:	n/a	n/a
15	ATF1	chr11:34706870-34707207	K562	blood:	n/a	n/a
16	ATF1	chr11:34675550-34675863	K562	blood:	n/a	n/a
17	ATF1	chr11:34779809-34780240	K562	blood:	n/a	n/a
18	ATF2	chr11:34655408-34656051	GM12878	blood:	n/a	n/a
19	ATF2	chr11:34706739-34707148	GM12878	blood:	n/a	n/a
20	ATF2	chr11:34673623-34674581	GM12878	blood:	n/a	n/a
21	ATF2	chr11:34671884-34672577	GM12878	blood:	n/a	n/a
22	ATF2	chr11:34644852-34645273	GM12878	blood:	n/a	n/a
23	ATF2	chr11:34706715-34707242	GM12878	blood:	n/a	n/a
24	ATF2	chr11:34671847-34672599	GM12878	blood:	n/a	n/a
25	ATF3	chr11:34661628-34662235	A549	lung:	n/a	n/a
26	ATF3	chr11:34706580-34707376	HCT-116	colon:	n/a	n/a
27	ATF3	chr11:34673654-34674049	K562	blood:	n/a	n/a
28	ATF3	chr11:34675433-34676137	A549	lung:	n/a	n/a
29	ATF3	chr11:34676265-34676876	A549	lung:	n/a	n/a
30	ATF3	chr11:34706711-34707373	A549	lung:	n/a	n/a
31	ATF3	chr11:34706685-34707409	A549	lung:	n/a	n/a
32	ATF3	chr11:34675408-34676126	A549	lung:	n/a	n/a
33	ATF3	chr11:34676387-34677171	A549	lung:	n/a	n/a
34	ATF3	chr11:34706702-34707206	K562	blood:	n/a	n/a
35	ATF3	chr11:34661411-34662279	A549	lung:	n/a	n/a
36	ATF3	chr11:34706701-34707439	HCT-116	colon:	n/a	n/a
37	BACH1	chr11:34706943-34706985	K562	blood:	n/a	chr11:34706944-34706958
38	BACH1	chr11:34706823-34707127	H1-hESC	embryonic stem cell:	n/a	chr11:34706944-34706958
39	BATF	chr11:34655552-34655984	GM12878	blood:	n/a	n/a
40	BATF	chr11:34647977-34648245	GM12878	blood:	n/a	n/a
41	BATF	chr11:34672024-34672548	GM12878	blood:	n/a	n/a
42	BATF	chr11:34644902-34645267	GM12878	blood:	n/a	n/a
43	BATF	chr11:34655400-34656160	GM12878	blood:	n/a	n/a
44	BATF	chr11:34706746-34707114	GM12878	blood:	n/a	chr11:34706944-34706954 chr11:34706943-34706954
45	BATF	chr11:34672082-34672559	GM12878	blood:	n/a	n/a
46	BATF	chr11:34673744-34674060	GM12878	blood:	n/a	n/a
47	BATF	chr11:34645527-34645908	GM12878	blood:	n/a	n/a
48	BCL11A	chr11:34655737-34656027	GM12878	blood:	n/a	n/a
49	BCL11A	chr11:34655659-34656004	GM12878	blood:	n/a	n/a
50	BCL11A	chr11:34706738-34707099	GM12878	blood:	n/a	chr11:34706947-34706956 chr11:34706946-34706955

(count:732 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:34676683-34676733	HPAEpiC	pulmonary alveolar:	n/a
2	chr11:34779084-34779134	HNPCEpiC	eye:	n/a
3	chr11:34642463-34642513	NT2-D1	testis:	n/a
4	chr11:34681375-34681425	PFSK-1	brain:	n/a
5	chr11:34672025-34672075	A549	lung:	n/a
6	chr11:34672025-34672075	GM12892	blood:	n/a
7	chr11:34681375-34681425	HCPEpiC	choroid plexus:	n/a
8	chr11:34779084-34779134	SK-N-SH_RA	brain:	n/a
9	chr11:34779084-34779134	HIPEpiC	eye:	n/a
10	chr11:34642463-34642513	HCM	heart:	n/a
11	chr11:34681375-34681425	HEK293	kidney:	embryo
12	chr11:34702946-34702996	LNCaP	prostate:	n/a
13	chr11:34666060-34666110	HNPCEpiC	eye:	n/a
14	chr11:34672025-34672075	AG09309	skin:	n/a
15	chr11:34672025-34672075	PrEC	prostate:	n/a
16	chr11:34771918-34771968	ECC-1	luminal epithelium:	n/a
17	chr11:34642463-34642513	GM12891	blood:	n/a
18	chr11:34654233-34654283	AG09309	skin:	n/a
19	chr11:34666060-34666110	HCT-116	colon:	n/a
20	chr11:34771918-34771968	AG04449	skin:	fetal
21	chr11:34666060-34666110	HRCEpiC	kidney:	n/a
22	chr11:34701819-34701869	HCPEpiC	choroid plexus:	n/a
23	chr11:34702946-34702996	MCF-7	breast:	n/a
24	chr11:34642885-34642935	GM12891	blood:	n/a
25	chr11:34654233-34654283	SK-N-SH	brain:	n/a
26	chr11:34666060-34666110	HCM	heart:	n/a
27	chr11:34701819-34701869	H1-hESC	embryonic stem cell:	embryo
28	chr11:34681375-34681425	HCT-116	colon:	n/a
29	chr11:34702946-34702996	PrEC	prostate:	n/a
30	chr11:34642885-34642935	PrEC	prostate:	n/a
31	chr11:34676683-34676733	HCM	heart:	n/a
32	chr11:34681375-34681425	HCF	heart:	n/a
33	chr11:34676683-34676733	NH-A	brain:	n/a
34	chr11:34702946-34702996	GM12891	blood:	n/a
35	chr11:34779084-34779134	HMEC	breast:	n/a
36	chr11:34701819-34701869	Hela-S3	cervix:	n/a
37	chr11:34654233-34654283	HRPEpiC	eye:	n/a
38	chr11:34701819-34701869	AG04450	lung:	fetal
39	chr11:34672025-34672075	AoSMC	blood vessel:	n/a
40	chr11:34666060-34666110	HCPEpiC	choroid plexus:	n/a
41	chr11:34702946-34702996	HCM	heart:	n/a
42	chr11:34701819-34701869	SK-N-SH_RA	brain:	n/a
43	chr11:34666060-34666110	CMK	blood:	n/a
44	chr11:34642463-34642513	IMR90	lung:	fetal
45	chr11:34654233-34654283	NH-A	brain:	n/a
46	chr11:34666060-34666110	U87	brain:	n/a
47	chr11:34642463-34642513	MCF-7	breast:	n/a
48	chr11:34654233-34654283	SK-N-SH_RA	brain:	n/a
49	chr11:34672025-34672075	GM19239	blood:	n/a
50	chr11:34676683-34676733	Hepatocyte	liver:	n/a

(count:98 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr11:34569575..34572188-chr11:34654026..34656831,2	MCF-7	breast:
2	chr11:34643086..34644601-chr11:34653927..34655826,2	K562	blood:
3	chr11:34652609..34656733-chr11:34661493..34664204,6	MCF-7	breast:
4	chr11:34777504..34779332-chr11:34816777..34819047,2	MCF-7	breast:
5	chr11:34608499..34609105-chr11:34675652..34676481,2	MCF-7	breast:
6	chr11:34671534..34674106-chr11:34677263..34680105,2	K562	blood:
7	chr11:34685399..34688268-chr11:34690502..34692704,2	MCF-7	breast:
8	chr11:34683754..34686000-chr11:34698951..34701034,2	MCF-7	breast:
9	chr11:34641972..34644254-chr11:34644762..34647514,2	MCF-7	breast:
10	chr11:34741790..34743892-chr11:34746421..34748174,2	K562	blood:
11	chr11:34679021..34681559-chr11:34682485..34684482,3	K562	blood:
12	chr11:34686232..34690169-chr11:34690691..34694222,3	K562	blood:
13	chr11:34671534..34674106-chr11:34677263..34680105,2	K562	blood:
14	chr11:34675426..34678725-chr11:34681137..34686486,6	MCF-7	breast:
15	chr11:34666390..34669350-chr11:34705464..34707840,2	K562	blood:
16	chr11:34675778..34678396-chr11:34681432..34685655,3	K562	blood:
17	chr11:34669421..34671173-chr11:34672153..34673980,2	MCF-7	breast:
18	chr11:34641388..34644237-chr11:34660618..34663413,3	MCF-7	breast:
19	chr11:34673816..34675543-chr11:34675726..34677757,2	K562	blood:
20	chr11:34676055..34678665-chr11:34685926..34687942,2	MCF-7	breast:
21	chr11:34673845..34676364-chr11:34936249..34938409,2	MCF-7	breast:
22	chr11:34683754..34686000-chr11:34698951..34701034,2	MCF-7	breast:
23	chr11:34667165..34669347-chr11:34670992..34673618,3	K562	blood:
24	chr11:34621214..34622751-chr11:34769844..34772782,2	MCF-7	breast:
25	chr11:34642981..34644601-chr11:34653348..34655427,2	K562	blood:
26	chr11:34670807..34672858-chr11:34677571..34680304,2	K562	blood:
27	chr11:34643086..34644601-chr11:34653927..34655826,2	K562	blood:
28	chr11:34679021..34681559-chr11:34682485..34684482,3	K562	blood:
29	chr11:34653892..34655575-chr11:34674253..34677029,2	MCF-7	breast:
30	chr11:34685399..34688268-chr11:34690502..34692704,2	MCF-7	breast:
31	chr11:34635183..34637039-chr11:34658826..34661301,2	MCF-7	breast:
32	chr11:34607478..34608063-chr11:34675671..34676201,2	K562	blood:
33	chr11:34665923..34668324-chr11:34669277..34671241,3	MCF-7	breast:
34	chr11:34624693..34626791-chr11:34672431..34674013,2	K562	blood:
35	chr11:34737373..34739523-chr11:34745601..34747414,2	K562	blood:
36	chr11:34660689..34662189-chr11:34672411..34674964,2	MCF-7	breast:
37	chr11:34679249..34681279-chr11:34681584..34684087,2	K562	blood:
38	chr11:34666390..34669350-chr11:34705464..34707840,2	K562	blood:
39	chr11:34679249..34681279-chr11:34681584..34684087,2	K562	blood:
40	chr11:34775760..34778139-chr11:34861633..34864027,2	K562	blood:
41	chr11:34673816..34675543-chr11:34675726..34677757,2	K562	blood:
42	chr11:34660366..34662512-chr11:34808028..34810446,2	MCF-7	breast:
43	chr11:34642981..34644601-chr11:34653348..34655427,2	K562	blood:
44	chr11:34675778..34678396-chr11:34681432..34685655,3	K562	blood:
45	chr11:34660689..34662189-chr11:34672411..34674964,2	MCF-7	breast:
46	chr11:34741790..34743892-chr11:34746421..34748174,2	K562	blood:
47	chr11:34667165..34669347-chr11:34670992..34673618,3	K562	blood:
48	chr11:34667026..34669860-chr11:34670729..34674074,4	MCF-7	breast:
49	chr11:34646456..34649204-chr11:34658693..34661498,2	K562	blood:
50	chr11:34687615..34690287-chr11:34693156..34695409,2	MCF-7	breast:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ELF5-3	chr11:34736818-34736842	NONHSAT018762
2	lnc-ELF5-3	chr11:34736903-34737435	NONHSAT018762
3	lnc-ELF5-3	chr11:34736881-34736897	NONHSAT018762
4	lnc-ELF5-3	chr11:34736767-34736787	NONHSAT018762
5	lnc-EHF-4	chr11:34731147-34731708	NONHSAT018761
6	lnc-EHF-5	chr11:34764453-34764746	NONHSAT018763

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	EHF	hsa-miR-335-5p	chr11:34681304-34681326
2	EHF	hsa-miR-335-5p	chr11:34680781-34680805

Variant related genes	Relation type
ENSG00000270491	TF binding region
EHF	TF binding region
ENSG00000271369	TF binding region
ENSG00000270491	CpG island
EHF	CpG island
ENSG00000271369	CpG island
ENSG00000135373	chromatin interactions
ENSG00000149089	chromatin interactions
ENSG00000110435	chromatin interactions

Extended variants
information (count: 5118 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:5118 , 50 per page) page: 1 2 3 4 5 6 7 ... 103

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs286926	chr11:34642493-34642494	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs34383731	chr11:34642521-34642522	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs549354083	chr11:34642551-34642552	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs34340775	chr11:34642552-34642553	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs187598028	chr11:34642620-34642621	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs569291633	chr11:34642667-34642668	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs286925	chr11:34642668-34642669	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs555977215	chr11:34642672-34642673	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs286924	chr11:34642728-34642729	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs369146883	chr11:34642752-34642753	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs372910783	chr11:34642766-34642767	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs717582	chr11:34642823-34642824	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs539209994	chr11:34642865-34642866	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs552852733	chr11:34642870-34642871	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs572797906	chr11:34642885-34642886	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs190965801	chr11:34642926-34642927	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs370779781	chr11:34642927-34642928	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs372370531	chr11:34642954-34642955	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs569663269	chr11:34642962-34642963	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs145573200	chr11:34642966-34642967	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs560401809	chr11:34642973-34642974	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs182794054	chr11:34642977-34642978	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs55705279	chr11:34642992-34642993	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs147727933	chr11:34642999-34643000	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs148897520	chr11:34643025-34643026	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs187396163	chr11:34643036-34643037	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs578223407	chr11:34643060-34643061	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs540781310	chr11:34643124-34643125	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs560810708	chr11:34643179-34643180	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs557238898	chr11:34643224-34643225	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs549141073	chr11:34643230-34643231	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs562924376	chr11:34643234-34643235	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs286923	chr11:34643401-34643402	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs286922	chr11:34643442-34643443	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs571363193	chr11:34643489-34643490	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs539295210	chr11:34643520-34643521	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs112201995	chr11:34643530-34643531	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs546380146	chr11:34643540-34643541	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs575500586	chr11:34643551-34643552	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs189954350	chr11:34643574-34643575	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs555321261	chr11:34643583-34643584	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs531459946	chr11:34643623-34643624	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs145311138	chr11:34643676-34643677	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs286921	chr11:34643721-34643722	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs59338646	chr11:34643731-34643732	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs563115468	chr11:34643745-34643746	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs117880002	chr11:34643746-34643747	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs530412505	chr11:34643747-34643748	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs553730573	chr11:34643759-34643760	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs286920	chr11:34643780-34643781	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:78)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Thyroid cancer	19087340	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Parathyroid adenoma	22454399	CNVD
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastric cancer	17908304	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
Medulloblastoma	16783165	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18194544	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Glioblastoma multiforme	22286061	CNVD
Breast cancer	21364760	CNVD
Aniridia syndrome	21572526	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Retinoblastoma	22278416	CNVD
Denys-drash syndrome	21085971	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
WAGR syndrome	16773131	CNVD
Disorders of sex development	22290220	CNVD
Aniridia syndrome	17204608	CNVD
Mental retardation	17204608	CNVD
WAGR syndrome	19617690	CNVD
genitourinary abnormalities	17204608	CNVD
Breast cancer	16397240	CNVD
Mental retardation	16773131	CNVD
Multiple myeloma	16616336	CNVD
Cancer	17160897	CNVD
Cancer	21183584	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
WAGR syndrome	22470819	CNVD
Neurodevelopmental disorder	22521361	CNVD
Denys-drash syndrome	19566914	CNVD
Familial wilms tumor	19566914	CNVD
Frasier syndrome	19566914	CNVD
Non-small cell lung cancer	21829676	CNVD
WAGR syndrome	20603712	CNVD
Autism	17322880	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21858162	CNVD
Cancer	20164920	CNVD
Breast cancer	16620391	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:1925 , 50 per page) page: 1 2 3 4 5 6 7 ... 39

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:34608400-34643600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr11:34625400-34642800	Weak transcription	Gastric	stomach
3	chr11:34634000-34643200	Weak transcription	Lung	lung
4	chr11:34635000-34643400	Weak transcription	Brain Cingulate Gyrus	brain
5	chr11:34636200-34644000	Enhancers	K562	blood
6	chr11:34637800-34649200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr11:34639800-34653800	Weak transcription	Right Atrium	heart
8	chr11:34640000-34643200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr11:34640400-34643200	Enhancers	Placenta	Placenta
10	chr11:34641000-34642800	Enhancers	Fetal Intestine Small	intestine
11	chr11:34641000-34643400	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr11:34641600-34642600	Enhancers	HMEC	breast
13	chr11:34641800-34642800	Enhancers	Fetal Intestine Large	intestine
14	chr11:34641800-34644400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr11:34642000-34646800	Active TSS	Esophagus	oesophagus
16	chr11:34642000-34647200	Active TSS	Rectal Smooth Muscle	rectum
17	chr11:34642200-34642800	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr11:34642200-34643200	Active TSS	Pancreatic Islets	Pancreatic Islet
19	chr11:34642200-34643600	Active TSS	Pancreas	Pancrea
20	chr11:34642200-34646600	Active TSS	Rectal Mucosa Donor 29	rectum
21	chr11:34642200-34646800	Active TSS	Small Intestine	intestine
22	chr11:34642400-34642800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
23	chr11:34642400-34643400	Active TSS	NHEK	skin
24	chr11:34642400-34644400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr11:34642400-34644600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr11:34642400-34645400	Active TSS	Colonic Mucosa	Colon
27	chr11:34642400-34645400	Active TSS	Duodenum Mucosa	Duodenum
28	chr11:34642400-34646200	Active TSS	Rectal Mucosa Donor 31	rectum
29	chr11:34642400-34646600	Active TSS	Stomach Mucosa	stomach
30	chr11:34642600-34644000	Active TSS	Fetal Kidney	kidney
31	chr11:34642600-34644200	Active TSS	Fetal Stomach	stomach
32	chr11:34642600-34644200	Flanking Active TSS	HMEC	breast
33	chr11:34642800-34643200	Active TSS	Fetal Intestine Small	intestine
34	chr11:34642800-34643200	Enhancers	Monocytes-CD14+_RO01746	blood
35	chr11:34642800-34643600	Weak transcription	Fetal Intestine Large	intestine
36	chr11:34642800-34647000	Active TSS	Duodenum Smooth Muscle	Duodenum
37	chr11:34642800-34647200	Active TSS	Gastric	stomach
38	chr11:34642800-34647200	Active TSS	Sigmoid Colon	Sigmoid Colon
39	chr11:34643000-34644000	Enhancers	Brain Substantia Nigra	brain
40	chr11:34643000-34644200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr11:34643000-34644200	Enhancers	Brain Anterior Caudate	brain
42	chr11:34643200-34643600	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
43	chr11:34643200-34644000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr11:34643200-34644000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr11:34643200-34644000	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
46	chr11:34643200-34644000	Flanking Active TSS	Fetal Intestine Small	intestine
47	chr11:34643200-34644000	Active TSS	Lung	lung
48	chr11:34643200-34644200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr11:34643200-34644200	Enhancers	Brain Hippocampus Middle	brain
50	chr11:34643200-34644200	Enhancers	HepG2	liver

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