Variant report

Variant	nsv555632
Chromosome Location	chr11:85395180-85436352
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:745)
CpG islands
(count:855)
Chromatin interactive
region (count:52)
LncRNA
region (count:7)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:745 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF3	chr11:85430045-85430590	HCT-116	colon:	n/a	n/a
2	ATF3	chr11:85429941-85430582	A549	lung:	n/a	n/a
3	BACH1	chr11:85427332-85427364	K562	blood:	n/a	n/a
4	BCL3	chr11:85429789-85430630	A549	lung:	n/a	n/a
5	BCL3	chr11:85429956-85430607	A549	lung:	n/a	n/a
6	BRCA1	chr11:85397000-85397135	HepG2	liver:	n/a	n/a
7	CBX3	chr11:85429945-85430631	HCT-116	colon:	n/a	n/a
8	CBX3	chr11:85433968-85434612	HCT-116	colon:	n/a	n/a
9	CBX3	chr11:85434014-85434630	HCT-116	colon:	n/a	n/a
10	CEBPB	chr11:85435856-85436163	IMR90	lung:	n/a	chr11:85435989-85436000
11	CEBPB	chr11:85396041-85396413	IMR90	lung:	n/a	n/a
12	CEBPB	chr11:85430123-85430385	Hela-S3	cervix:	n/a	n/a
13	CEBPB	chr11:85433923-85434245	IMR90	lung:	n/a	chr11:85434072-85434085 chr11:85434073-85434084 chr11:85434074-85434083
14	CEBPB	chr11:85435889-85436106	Hela-S3	cervix:	n/a	chr11:85435989-85436000
15	CEBPB	chr11:85433879-85434592	MCF-7	breast:	n/a	chr11:85434072-85434085 chr11:85434073-85434084 chr11:85434074-85434083
16	CEBPB	chr11:85397179-85397460	HepG2	liver:	n/a	n/a
17	CEBPB	chr11:85433957-85434215	K562	blood:	n/a	chr11:85434072-85434085 chr11:85434073-85434084 chr11:85434074-85434083
18	CEBPB	chr11:85433970-85434233	A549	lung:	n/a	chr11:85434072-85434085 chr11:85434073-85434084 chr11:85434074-85434083
19	CEBPB	chr11:85433865-85434608	MCF-7	breast:	n/a	chr11:85434072-85434085 chr11:85434073-85434084 chr11:85434074-85434083
20	CEBPB	chr11:85435842-85436151	A549	lung:	n/a	chr11:85435989-85436000
21	CEBPB	chr11:85433983-85434244	HepG2	liver:	n/a	chr11:85434072-85434085 chr11:85434073-85434084 chr11:85434074-85434083
22	CEBPB	chr11:85435845-85436161	HepG2	liver:	n/a	chr11:85435989-85436000
23	CEBPB	chr11:85396959-85397517	IMR90	lung:	n/a	n/a
24	CEBPB	chr11:85435902-85436102	K562	blood:	n/a	chr11:85435989-85436000
25	CEBPB	chr11:85429913-85430649	HCT-116	colon:	n/a	n/a
26	CEBPB	chr11:85429496-85430455	IMR90	lung:	n/a	n/a
27	CEBPB	chr11:85429913-85430587	A549	lung:	n/a	n/a
28	CHD2	chr11:85397213-85397266	HepG2	liver:	n/a	n/a
29	CTBP2	chr11:85429977-85430772	H1-hESC	embryonic stem cell:	n/a	n/a
30	CTCF	chr11:85405290-85405983	HCT-116	colon:	n/a	n/a
31	CTCF	chr11:85406420-85406570	HMF	breast:	n/a	n/a
32	CTCF	chr11:85405500-85405727	LNCaP	prostate:	n/a	n/a
33	CTCF	chr11:85405220-85405370	WI-38	lung:	n/a	n/a
34	CTCF	chr11:85405540-85405690	BJ	skin:	n/a	n/a
35	CTCF	chr11:85405510-85405724	LNCaP	prostate:	n/a	n/a
36	CTCF	chr11:85406424-85406547	Gliobla	brain:	n/a	n/a
37	CTCF	chr11:85406400-85406550	AG04450	lung:	n/a	n/a
38	CTCF	chr11:85405536-85405723	HepG2	liver:	n/a	n/a
39	CTCF	chr11:85405560-85405710	HRE	kidney:	n/a	n/a
40	CTCF	chr11:85405540-85405690	AG04449	skin:	n/a	n/a
41	CTCF	chr11:85405540-85405690	WERI-Rb-1	eye:	n/a	n/a
42	CTCF	chr11:85405600-85405750	BE2_C	brain:	n/a	n/a
43	CTCF	chr11:85434332-85434369	MCF-7	breast:	n/a	n/a
44	CTCF	chr11:85405448-85405822	MCF-7	breast:	n/a	n/a
45	CTCF	chr11:85397080-85397230	HCPEpiC	choroid plexus:	n/a	n/a
46	CTCF	chr11:85405620-85405770	HFF	foreskin:	n/a	n/a
47	CTCF	chr11:85405540-85405690	Hela-S3	cervix:	n/a	n/a
48	CTCF	chr11:85405481-85405761	HUVEC	blood vessel:	n/a	n/a
49	CTCF	chr11:85406300-85406450	HAc	cerebellar:	n/a	n/a
50	CTCF	chr11:85405540-85405690	GM06990	blood:	n/a	n/a

(count:855 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:85397109-85397159	U87	brain:	n/a
2	chr11:85397109-85397159	U87	brain:	n/a
3	chr11:85436135-85436185	NHBE	bronchial:	n/a
4	chr11:85430629-85430679	ProgFib	skin:	n/a
5	chr11:85398200-85398250	IMR90	lung:	fetal
6	chr11:85397109-85397159	BE2_C	brain:	n/a
7	chr11:85430070-85430120	MCF-7	breast:	n/a
8	chr11:85396000-85396050	AG04450	lung:	fetal
9	chr11:85397563-85397613	SAEC	small airway:	n/a
10	chr11:85397684-85397734	SKMC	muscle:	n/a
11	chr11:85436135-85436185	NH-A	brain:	n/a
12	chr11:85430629-85430679	AoSMC	blood vessel:	n/a
13	chr11:85397563-85397613	AoSMC	blood vessel:	n/a
14	chr11:85398200-85398250	Jurkat	blood:	n/a
15	chr11:85427572-85427622	ovcar-3	ovarian:	n/a
16	chr11:85430657-85430707	NH-A	brain:	n/a
17	chr11:85430070-85430120	Hela-S3	cervix:	n/a
18	chr11:85397684-85397734	HRCEpiC	kidney:	n/a
19	chr11:85397563-85397613	GM12892	blood:	n/a
20	chr11:85430629-85430679	HNPCEpiC	eye:	n/a
21	chr11:85430629-85430679	MCF-7	breast:	n/a
22	chr11:85398200-85398250	SKMC	muscle:	n/a
23	chr11:85397109-85397159	NHDF-neo	bronchial:	n/a
24	chr11:85398200-85398250	GM12878	blood:	n/a
25	chr11:85436135-85436185	HCM	heart:	n/a
26	chr11:85397109-85397159	SK-N-SH	brain:	n/a
27	chr11:85397684-85397734	BJ	skin:	n/a
28	chr11:85406196-85406246	H1-hESC	embryonic stem cell:	embryo
29	chr11:85430070-85430120	HPAEpiC	pulmonary alveolar:	n/a
30	chr11:85422118-85422168	AoSMC	blood vessel:	n/a
31	chr11:85430657-85430707	SKMC	muscle:	n/a
32	chr11:85422118-85422168	NT2-D1	testis:	n/a
33	chr11:85430634-85430684	CMK	blood:	n/a
34	chr11:85430070-85430120	SK-N-SH_RA	brain:	n/a
35	chr11:85430657-85430707	PFSK-1	brain:	n/a
36	chr11:85398200-85398250	HRE	kidney:	n/a
37	chr11:85436135-85436185	NB4	blood:	n/a
38	chr11:85397563-85397613	Hepatocyte	liver:	n/a
39	chr11:85396000-85396050	HepG2	liver:	n/a
40	chr11:85430634-85430684	SK-N-SH	brain:	n/a
41	chr11:85430634-85430684	BJ	skin:	n/a
42	chr11:85430634-85430684	A549	lung:	n/a
43	chr11:85430657-85430707	HRE	kidney:	n/a
44	chr11:85397684-85397734	GM12891	blood:	n/a
45	chr11:85436135-85436185	T-47D	breast:	n/a
46	chr11:85397216-85397266	HAEpiC	amniotic membrane:	n/a
47	chr11:85397684-85397734	U87	brain:	n/a
48	chr11:85422118-85422168	HL-60	blood:	n/a
49	chr11:85430657-85430707	CMK	blood:	n/a
50	chr11:85430070-85430120	GM12892	blood:	n/a

(count:52 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr11:85401299..85403550-chr11:85409395..85411869,2	MCF-7	breast:
2	chr11:85406392..85407913-chr11:85410539..85412560,2	K562	blood:
3	chr11:85374551..85377717-chr11:85388541..85395552,6	MCF-7	breast:
4	chr11:85428619..85430275-chr11:85519411..85522192,2	MCF-7	breast:
5	chr11:85372316..85374513-chr11:85398515..85401514,2	K562	blood:
6	chr11:85364604..85367287-chr11:85396670..85399821,3	K562	blood:
7	chr11:85407594..85410052-chr11:85416744..85418480,2	K562	blood:
8	chr11:85394543..85396055-chr11:85509684..85512654,2	MCF-7	breast:
9	chr11:85373450..85376919-chr11:85429977..85433486,3	K562	blood:
10	chr11:85423310..85426529-chr11:85429130..85432198,3	MCF-7	breast:
11	chr11:85405093..85406585-chr11:85536858..85537561,5	MCF-7	breast:
12	chr11:85403066..85404885-chr11:85408598..85410390,2	MCF-7	breast:
13	chr11:85367507..85369377-chr11:85420172..85422732,2	K562	blood:
14	chr11:85432781..85434564-chr11:85442681..85445528,2	MCF-7	breast:
15	chr11:85407594..85410052-chr11:85416744..85418480,2	K562	blood:
16	chr11:85374119..85376110-chr11:85413956..85416202,3	MCF-7	breast:
17	chr11:85430781..85433694-chr11:85551714..85553918,2	MCF-7	breast:
18	chr11:85433923..85435734-chr11:85518099..85520604,2	MCF-7	breast:
19	chr11:85405280..85405905-chr11:85565518..85566051,2	MCF-7	breast:
20	chr11:85374882..85377605-chr11:85402891..85406300,3	MCF-7	breast:
21	chr11:85374139..85377473-chr11:85394538..85397297,3	MCF-7	breast:
22	chr11:85421836..85425114-chr11:85425179..85427186,3	MCF-7	breast:
23	chr11:85414305..85416177-chr11:85432869..85434542,2	MCF-7	breast:
24	chr11:85403066..85404885-chr11:85408598..85410390,2	MCF-7	breast:
25	chr11:85427809..85429920-chr11:85433567..85435878,3	MCF-7	breast:
26	chr11:85434008..85435703-chr11:85538641..85540808,2	MCF-7	breast:
27	chr11:85405165..85408368-chr11:85410151..85413068,4	MCF-7	breast:
28	chr11:85375414..85378030-chr11:85406861..85408546,2	MCF-7	breast:
29	chr11:85423310..85426529-chr11:85429130..85432198,3	MCF-7	breast:
30	chr11:85337931..85339718-chr11:85394952..85396893,2	K562	blood:
31	chr11:85374569..85377530-chr11:85400374..85402556,2	K562	blood:
32	chr11:85414305..85416177-chr11:85432869..85434542,2	MCF-7	breast:
33	chr11:85405165..85408368-chr11:85410151..85413068,4	MCF-7	breast:
34	chr11:85434348..85438681-chr11:85520824..85523815,4	MCF-7	breast:
35	chr11:85338344..85340985-chr11:85434050..85436369,2	K562	blood:
36	chr11:85433132..85435744-chr11:85522806..85525692,2	MCF-7	breast:
37	chr11:85375817..85377426-chr11:85394328..85396398,2	K562	blood:
38	chr11:85409414..85413746-chr11:85414065..85417765,4	K562	blood:
39	chr11:85338441..85340727-chr11:85396726..85399566,2	MCF-7	breast:
40	chr11:85409414..85413746-chr11:85414065..85417765,4	K562	blood:
41	chr11:85374169..85377247-chr11:85434867..85438072,3	MCF-7	breast:
42	chr11:85404945..85406929-chr11:85457970..85459498,2	MCF-7	breast:
43	chr11:85389569..85392078-chr11:85394347..85396779,2	MCF-7	breast:
44	chr11:85413233..85416228-chr11:85426193..85428721,2	K562	blood:
45	chr11:85406368..85408240-chr11:85432667..85435313,3	MCF-7	breast:
46	chr11:85373021..85376736-chr11:85401032..85402990,3	K562	blood:
47	chr11:85406392..85407913-chr11:85410539..85412560,2	K562	blood:
48	chr11:85374651..85376629-chr11:85434195..85435833,2	MCF-7	breast:
49	chr11:85427809..85429920-chr11:85433567..85435878,3	MCF-7	breast:
50	chr11:85387868..85389432-chr11:85395056..85397188,2	MCF-7	breast:

(count:7 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CCDC89-4	chr11:85427386-85427474	NONHSAT023446
2	lnc-CCDC89-4	chr11:85425479-85425550	NONHSAT023446
3	lnc-CCDC89-2	chr11:85405367-85405643	expReg_chr11_8280_-
4	lnc-CCDC89-4	chr11:85429833-85430211	NONHSAT023447
5	lnc-CCDC89-4	chr11:85425522-85425550	NONHSAT023447
6	lnc-CCDC89-4	chr11:85427324-85427471	NONHSAT023447
7	lnc-CCDC89-4	chr11:85429833-85430223	NONHSAT023446

No data

Variant related genes	Relation type
SYTL2	TF binding region
CREBZF	TF binding region
CCDC89	TF binding region
SYTL2	CpG island
CREBZF	CpG island
CCDC89	CpG island
ENSG00000137501	chromatin interactions
ENSG00000137504	chromatin interactions
ENSG00000150672	chromatin interactions
ENSG00000215504	chromatin interactions
ENSG00000171202	chromatin interactions
ENSG00000171204	chromatin interactions

Extended variants
information (count: 1678 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:1678 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1237203	chr11:85395180-85395181	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs563290795	chr11:85395184-85395185	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs532017294	chr11:85395194-85395195	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs36073574	chr11:85395204-85395205	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs111495448	chr11:85395278-85395279	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs550237229	chr11:85395317-85395318	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs571801198	chr11:85395327-85395328	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs538906990	chr11:85395378-85395379	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs547970262	chr11:85395382-85395383	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs692883	chr11:85395399-85395400	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs565794970	chr11:85395431-85395432	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs536362732	chr11:85395513-85395514	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs619018	chr11:85395528-85395529	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs554513237	chr11:85395532-85395533	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs576054955	chr11:85395542-85395543	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs537337008	chr11:85395563-85395564	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs558621434	chr11:85395587-85395588	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs541338853	chr11:85395588-85395589	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs576964923	chr11:85395641-85395642	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs290186	chr11:85395652-85395653	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs143145098	chr11:85395705-85395706	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs574552720	chr11:85395714-85395715	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs290185	chr11:85395718-85395719	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs189659933	chr11:85395767-85395768	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs181300993	chr11:85395784-85395785	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs544090432	chr11:85395851-85395852	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs111882322	chr11:85395944-85395945	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs565388495	chr11:85395994-85395995	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs532847383	chr11:85396000-85396001	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs201001900	chr11:85396033-85396034	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs373442101	chr11:85396051-85396052	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs200895146	chr11:85396062-85396063	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs370329192	chr11:85396066-85396067	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs145801127	chr11:85396084-85396085	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs373311164	chr11:85396115-85396116	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs530112724	chr11:85396119-85396120	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs138278693	chr11:85396140-85396141	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs376053674	chr11:85396142-85396143	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs548309616	chr11:85396146-85396147	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs200884938	chr11:85396150-85396151	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs569705796	chr11:85396154-85396155	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs372772132	chr11:85396170-85396171	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs375965462	chr11:85396184-85396185	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs188359412	chr11:85396188-85396189	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs558914987	chr11:85396190-85396191	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs200554755	chr11:85396209-85396210	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs200197856	chr11:85396212-85396213	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs570614928	chr11:85396236-85396237	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs146974066	chr11:85396271-85396272	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs369154516	chr11:85396274-85396275	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:88)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	20729466	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
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Cervical cancer	21062161	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17157792	CNVD
Esophageal squamous carcinoma	18350619	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neuroblastoma	18923191	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	22429812	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Ovarian neoplasms	16753589	CNVD
Breast cancer	16608533	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Colorectal cancer	16912164	CNVD
Mental retardation	17847001	CNVD
Melanoma	19509136	CNVD
Sudden cardiac death	19188705	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16785998	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21785460	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Ductal carcinoma	22052326	CNVD
Obesity	20622171	CNVD
small cell lung cancer	20016488	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Attention deficit hyperactivity disorder	22241247	CNVD
Breast cancer	21958427	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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Cancer	17440070	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:1075 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:85392400-85396200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr11:85392400-85396200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr11:85394000-85396200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr11:85394000-85427400	Weak transcription	Small Intestine	intestine
5	chr11:85394200-85395200	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr11:85394200-85395600	Weak transcription	Fetal Stomach	stomach
7	chr11:85394200-85395600	Weak transcription	HepG2	liver
8	chr11:85394200-85395600	Weak transcription	HSMM	muscle
9	chr11:85394200-85395600	Enhancers	NHDF-Ad	bronchial
10	chr11:85394200-85395800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr11:85394200-85395800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr11:85394200-85395800	Weak transcription	Brain Angular Gyrus	brain
13	chr11:85394200-85395800	Weak transcription	Colon Smooth Muscle	Colon
14	chr11:85394200-85395800	Weak transcription	Fetal Heart	heart
15	chr11:85394200-85395800	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr11:85394200-85396000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr11:85394200-85396000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr11:85394200-85396000	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr11:85394200-85396000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr11:85394200-85396000	Weak transcription	Adipose Nuclei	Adipose
21	chr11:85394200-85396000	Weak transcription	Brain Cingulate Gyrus	brain
22	chr11:85394200-85396000	Weak transcription	Brain Hippocampus Middle	brain
23	chr11:85394200-85396000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr11:85394200-85396000	Weak transcription	Brain Substantia Nigra	brain
25	chr11:85394200-85396000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr11:85394200-85396000	Weak transcription	Fetal Muscle Trunk	muscle
27	chr11:85394200-85396000	Weak transcription	Placenta	Placenta
28	chr11:85394200-85396000	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr11:85394200-85396000	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr11:85394200-85396000	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr11:85394200-85396000	Weak transcription	Stomach Mucosa	stomach
32	chr11:85394200-85396000	Weak transcription	Spleen	Spleen
33	chr11:85394200-85396000	Weak transcription	NH-A	brain
34	chr11:85394200-85396200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr11:85394200-85396200	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr11:85394200-85396200	Weak transcription	Gastric	stomach
37	chr11:85394200-85396200	Weak transcription	Left Ventricle	heart
38	chr11:85394200-85396200	Weak transcription	Lung	lung
39	chr11:85394200-85396200	Weak transcription	Psoas Muscle	Psoas
40	chr11:85394200-85396200	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr11:85394200-85396400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr11:85394200-85396400	Weak transcription	Fetal Brain Male	brain
43	chr11:85394200-85396400	Weak transcription	Fetal Thymus	thymus
44	chr11:85394200-85396400	Weak transcription	NHEK	skin
45	chr11:85394200-85396800	Weak transcription	Esophagus	oesophagus
46	chr11:85394200-85396800	Weak transcription	Fetal Brain Female	brain
47	chr11:85394200-85396800	Weak transcription	Thymus	Thymus
48	chr11:85394200-85401800	Weak transcription	Primary T cells from cord blood	blood
49	chr11:85394200-85404200	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr11:85394200-85406200	Weak transcription	Primary T helper cells fromperipheralblood	blood

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