Variant report

Variant	nsv428599
Chromosome Location	chr1:216086224-216267211
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:807)
CpG islands
(count:61)
Chromatin interactive
region (count:38)
LncRNA
region (count:15)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:807 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:216208104-216208112	HepG2	liver:	n/a	n/a
2	ATF1	chr1:216204839-216204905	K562	blood:	n/a	n/a
3	ATF1	chr1:216230255-216230377	K562	blood:	n/a	n/a
4	ATF2	chr1:216179157-216179628	GM12878	blood:	n/a	n/a
5	ATF2	chr1:216179113-216179691	GM12878	blood:	n/a	n/a
6	BACH1	chr1:216248646-216248945	H1-hESC	embryonic stem cell:	n/a	n/a
7	BACH1	chr1:216231352-216231621	H1-hESC	embryonic stem cell:	n/a	n/a
8	BATF	chr1:216179265-216179648	GM12878	blood:	n/a	chr1:216179445-216179455 chr1:216179444-216179455
9	BATF	chr1:216179272-216179547	GM12878	blood:	n/a	chr1:216179445-216179455 chr1:216179444-216179455
10	BCL11A	chr1:216179205-216179624	GM12878	blood:	n/a	chr1:216179443-216179452 chr1:216179444-216179453
11	BCL3	chr1:216104857-216105283	GM12878	blood:	n/a	n/a
12	BHLHE40	chr1:216167868-216168082	GM12878	blood:	n/a	n/a
13	BHLHE40	chr1:216179335-216179521	GM12878	blood:	n/a	n/a
14	CEBPB	chr1:216207815-216208181	MCF-7	breast:	n/a	n/a
15	CEBPB	chr1:216207838-216208151	HepG2	liver:	n/a	n/a
16	CEBPB	chr1:216159925-216160121	A549	lung:	n/a	chr1:216160043-216160054 chr1:216160041-216160052
17	CEBPB	chr1:216105905-216106220	HepG2	liver:	n/a	chr1:216106061-216106072 chr1:216105941-216105958
18	CEBPB	chr1:216165150-216165350	HepG2	liver:	n/a	chr1:216165257-216165270 chr1:216165257-216165268
19	CEBPB	chr1:216207818-216208160	A549	lung:	n/a	n/a
20	CEBPB	chr1:216158272-216158472	H1-hESC	embryonic stem cell:	n/a	n/a
21	CEBPB	chr1:216160461-216160790	A549	lung:	n/a	chr1:216160606-216160617
22	CEBPB	chr1:216161383-216161589	IMR90	lung:	n/a	chr1:216161451-216161462
23	CEBPB	chr1:216160550-216160770	H1-hESC	embryonic stem cell:	n/a	chr1:216160606-216160617
24	CEBPB	chr1:216238132-216238332	A549	lung:	n/a	chr1:216238191-216238202
25	CEBPB	chr1:216207830-216208141	IMR90	lung:	n/a	n/a
26	CEBPB	chr1:216187824-216188135	H1-hESC	embryonic stem cell:	n/a	chr1:216187978-216187989 chr1:216187976-216187987
27	CEBPB	chr1:216187839-216188126	A549	lung:	n/a	chr1:216187978-216187989 chr1:216187976-216187987
28	CEBPB	chr1:216105279-216105644	IMR90	lung:	n/a	chr1:216105382-216105393
29	CEBPB	chr1:216161354-216161554	A549	lung:	n/a	chr1:216161451-216161462
30	CEBPB	chr1:216160465-216160807	HepG2	liver:	n/a	chr1:216160606-216160617
31	CEBPB	chr1:216099222-216099458	H1-hESC	embryonic stem cell:	n/a	n/a
32	CEBPB	chr1:216187849-216188081	K562	blood:	n/a	chr1:216187978-216187989 chr1:216187976-216187987
33	CEBPB	chr1:216158216-216158504	MCF-7	breast:	n/a	n/a
34	CEBPB	chr1:216159898-216160181	HepG2	liver:	n/a	chr1:216160043-216160054 chr1:216160041-216160052
35	CEBPB	chr1:216161491-216161501	H1-hESC	embryonic stem cell:	n/a	n/a
36	CEBPB	chr1:216158233-216158567	HepG2	liver:	n/a	n/a
37	CEBPB	chr1:216105119-216105181	A549	lung:	n/a	n/a
38	CEBPB	chr1:216207888-216208130	Hela-S3	cervix:	n/a	n/a
39	CEBPB	chr1:216218702-216219139	IMR90	lung:	n/a	n/a
40	CEBPB	chr1:216166006-216166112	H1-hESC	embryonic stem cell:	n/a	n/a
41	CEBPB	chr1:216241261-216241515	HepG2	liver:	n/a	n/a
42	CEBPB	chr1:216230434-216230699	IMR90	lung:	n/a	chr1:216230508-216230519 chr1:216230508-216230521
43	CEBPB	chr1:216187383-216188142	IMR90	lung:	n/a	chr1:216187978-216187989 chr1:216187976-216187987
44	CEBPB	chr1:216254856-216255149	HepG2	liver:	n/a	n/a
45	CEBPB	chr1:216160437-216160795	IMR90	lung:	n/a	chr1:216160606-216160617
46	CEBPB	chr1:216230416-216230691	HepG2	liver:	n/a	chr1:216230508-216230519 chr1:216230508-216230521
47	CEBPB	chr1:216177786-216177960	HepG2	liver:	n/a	chr1:216177849-216177860
48	CEBPB	chr1:216159806-216160213	IMR90	lung:	n/a	chr1:216160043-216160054 chr1:216160041-216160052
49	CEBPB	chr1:216238019-216238387	IMR90	lung:	n/a	chr1:216238191-216238202
50	CEBPB	chr1:216158255-216158519	A549	lung:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:216144819-216144869	HL-60	blood:	n/a
2	chr1:216144819-216144869	NHDF-neo	bronchial:	n/a
3	chr1:216144819-216144869	A549	lung:	n/a
4	chr1:216144819-216144869	HPAEpiC	pulmonary alveolar:	n/a
5	chr1:216144819-216144869	RPTEC	kidney:	n/a
6	chr1:216144819-216144869	HRCEpiC	kidney:	n/a
7	chr1:216144819-216144869	T-47D	breast:	n/a
8	chr1:216144819-216144869	H1-hESC	embryonic stem cell:	embryo
9	chr1:216144819-216144869	HEEpiC	esophagus:	n/a
10	chr1:216144819-216144869	LNCaP	prostate:	n/a
11	chr1:216144819-216144869	SAEC	small airway:	n/a
12	chr1:216144819-216144869	GM12892	blood:	n/a
13	chr1:216144819-216144869	PFSK-1	brain:	n/a
14	chr1:216144819-216144869	HIPEpiC	eye:	n/a
15	chr1:216144819-216144869	AG04449	skin:	fetal
16	chr1:216144819-216144869	IMR90	lung:	fetal
17	chr1:216144819-216144869	SK-N-SH	brain:	n/a
18	chr1:216144819-216144869	PANC-1	pancreas:	n/a
19	chr1:216144819-216144869	MCF10A-Er-Src	breast:	n/a
20	chr1:216144819-216144869	Caco-2	colon:	n/a
21	chr1:216144819-216144869	NT2-D1	testis:	n/a
22	chr1:216144819-216144869	K562	blood:	n/a
23	chr1:216144819-216144869	GM12878	blood:	n/a
24	chr1:216144819-216144869	AG04450	lung:	fetal
25	chr1:216144819-216144869	HCPEpiC	choroid plexus:	n/a
26	chr1:216144819-216144869	HMEC	breast:	n/a
27	chr1:216144819-216144869	HUVEC	blood vessel:	n/a
28	chr1:216144819-216144869	HRPEpiC	eye:	n/a
29	chr1:216144819-216144869	U87	brain:	n/a
30	chr1:216144819-216144869	HepG2	liver:	n/a
31	chr1:216144819-216144869	ECC-1	luminal epithelium:	n/a
32	chr1:216144819-216144869	NB4	blood:	n/a
33	chr1:216144819-216144869	CMK	blood:	n/a
34	chr1:216144819-216144869	GM19239	blood:	n/a
35	chr1:216144819-216144869	BJ	skin:	n/a
36	chr1:216144819-216144869	Hela-S3	cervix:	n/a
37	chr1:216144819-216144869	ovcar-3	ovarian:	n/a
38	chr1:216144819-216144869	HCM	heart:	n/a
39	chr1:216144819-216144869	AG10803	skin:	n/a
40	chr1:216144819-216144869	HAEpiC	amniotic membrane:	n/a
41	chr1:216144819-216144869	HNPCEpiC	eye:	n/a
42	chr1:216144819-216144869	SK-N-MC	brain:	n/a
43	chr1:216144819-216144869	GM06990	blood:	n/a
44	chr1:216144819-216144869	MCF-7	breast:	n/a
45	chr1:216144819-216144869	Hepatocyte	liver:	n/a
46	chr1:216144819-216144869	SKMC	muscle:	n/a
47	chr1:216144819-216144869	BE2_C	brain:	n/a
48	chr1:216144819-216144869	HCT-116	colon:	n/a
49	chr1:216144819-216144869	AoSMC	blood vessel:	n/a
50	chr1:216144819-216144869	AG09309	skin:	n/a

(count:38 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:216165632..216166564-chr1:216394212..216395125,5	MCF-7	breast:
2	chr1:216237367..216239431-chr1:216241282..216242934,2	MCF-7	breast:
3	chr1:216095323..216098223-chr1:216099775..216101412,2	K562	blood:
4	chr1:216165696..216166649-chr1:216292836..216293591,2	MCF-7	breast:
5	chr1:216135175..216136682-chr1:216139501..216141114,2	K562	blood:
6	chr1:216119789..216122562-chr9:92704177..92706793,2	MCF-7	breast:
7	chr1:216261476..216264118-chr1:216264483..216266208,2	K562	blood:
8	chr1:216099070..216100861-chr1:216109390..216111779,2	K562	blood:
9	chr1:216073591..216076133-chr1:216088257..216090062,2	K562	blood:
10	chr1:216139397..216141428-chr1:216167682..216169961,2	K562	blood:
11	chr1:216096007..216097602-chr1:216102909..216104779,2	K562	blood:
12	chr1:216081320..216083949-chr1:216084942..216087110,2	K562	blood:
13	chr1:216109491..216112444-chr1:216113554..216115668,2	MCF-7	breast:
14	chr1:216237367..216239431-chr1:216241282..216242934,2	MCF-7	breast:
15	chr1:216158513..216161013-chr1:216166176..216168523,2	MCF-7	breast:
16	chr1:216137965..216139586-chr1:216139815..216142602,2	MCF-7	breast:
17	chr1:215883369..215884389-chr1:216165659..216166604,3	MCF-7	breast:
18	chr1:216164234..216166867-chr1:216167548..216169584,2	K562	blood:
19	chr1:216174957..216175816-chr1:216394270..216394785,2	MCF-7	breast:
20	chr1:216099070..216100861-chr1:216109390..216111779,2	K562	blood:
21	chr1:216246066..216248106-chr1:216251823..216254349,2	K562	blood:
22	chr1:216074148..216076361-chr1:216095945..216097461,2	K562	blood:
23	chr1:216095323..216098223-chr1:216099775..216101412,2	K562	blood:
24	chr1:216061603..216062225-chr1:216207802..216208490,2	MCF-7	breast:
25	chr1:215910354..215912136-chr1:216136601..216138157,2	K562	blood:
26	chr1:216096007..216097602-chr1:216102909..216104779,2	K562	blood:
27	chr1:216139397..216141428-chr1:216167682..216169961,2	K562	blood:
28	chr1:216173759..216174488-chr1:216367163..216367696,2	MCF-7	breast:
29	chr1:216246066..216248106-chr1:216251823..216254349,2	K562	blood:
30	chr1:216137965..216139586-chr1:216139815..216142602,2	MCF-7	breast:
31	chr1:216135175..216136682-chr1:216139501..216141114,2	K562	blood:
32	chr1:216164234..216166867-chr1:216167548..216169584,2	K562	blood:
33	chr1:216158513..216161013-chr1:216166176..216168523,2	MCF-7	breast:
34	chr1:216208048..216208557-chr1:216367548..216368089,2	MCF-7	breast:
35	chr1:216166090..216166621-chr1:216293129..216293695,2	MCF-7	breast:
36	chr1:216109491..216112444-chr1:216113554..216115668,2	MCF-7	breast:
37	chr1:216165794..216166615-chr1:216367342..216367871,2	MCF-7	breast:
38	chr1:216207908..216208562-chr1:216293070..216293728,3	MCF-7	breast:

(count:15 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KCTD3-7	chr1:216151720-216151946	NONHSAT009477
2	lnc-KCTD3-7	chr1:216132866-216132891	NONHSAT009477
3	lnc-KCTD3-2	chr1:216260064-216260247	ENSG00000233620.1
4	lnc-KCTD3-2	chr1:216246148-216246306	ENSG00000233620.1
5	lnc-KCTD3-2	chr1:216253307-216253383	ENSG00000233620.1
6	lnc-KCTD3-2	chr1:216252415-216252543	ENSG00000233620.1
7	lnc-KCTD3-2	chr1:216252415-216252543	ENSG00000233620.1
8	lnc-KCTD3-2	chr1:216252415-216252543	ENSG00000233620.1
9	lnc-KCTD3-2	chr1:216260064-216260247	ENSG00000233620.1
10	lnc-KCTD3-2	chr1:216260064-216260259	ENSG00000233620.1
11	lnc-KCTD3-2	chr1:216260064-216260247	ENSG00000233620.1
12	lnc-KCTD3-7	chr1:216159549-216160769	NONHSAT009477
13	lnc-KCTD3-7	chr1:216158158-216158269	NONHSAT009477
14	lnc-KCTD3-2	chr1:216246071-216246148	ENSG00000233620.1
15	lnc-KCTD3-2	chr1:216245807-216245942	ENSG00000233620.1

No data

Variant related genes	Relation type
USH2A	TF binding region
ENSG00000233620	TF binding region
USH2A	CpG island
ENSG00000233620	CpG island
ENSG00000233620	chromatin interactions
ENSG00000236292	chromatin interactions
ENSG00000042781	chromatin interactions

Extended variants
information (count: 5348 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:5348 , 50 per page) page: 1 2 3 4 5 6 7 ... 107

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150227929	chr1:216086405-216086406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs576758203	chr1:216086430-216086431	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs139117819	chr1:216086476-216086477	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs116650654	chr1:216086530-216086531	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs61828480	chr1:216086660-216086661	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs143050099	chr1:216086669-216086670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs180993214	chr1:216086684-216086685	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs532116257	chr1:216086731-216086732	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs552228327	chr1:216086790-216086791	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs569129869	chr1:216086800-216086801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs568402838	chr1:216092804-216092805	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs534149868	chr1:216092815-216092816	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs114893347	chr1:216092819-216092820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs375527942	chr1:216092820-216092821	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs371753444	chr1:216092927-216092928	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs142048863	chr1:216093000-216093001	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs375940005	chr1:216093165-216093166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs577016702	chr1:216093199-216093200	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs576692519	chr1:216093213-216093214	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs17025593	chr1:216093233-216093234	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs561032810	chr1:216093236-216093237	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs574355307	chr1:216093288-216093289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs573848538	chr1:216093302-216093303	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs372712949	chr1:216093303-216093304	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs578105394	chr1:216093317-216093318	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs540187379	chr1:216093362-216093363	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs560204359	chr1:216093384-216093385	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs532247513	chr1:216093396-216093397	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs200257784	chr1:216093427-216093428	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs78379245	chr1:216093434-216093435	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs66811367	chr1:216093435-216093436	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs552033196	chr1:216093436-216093437	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs187451385	chr1:216093497-216093498	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs192541934	chr1:216093553-216093554	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs531394015	chr1:216093600-216093601	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs373132263	chr1:216093617-216093618	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs568500805	chr1:216093619-216093620	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs111891782	chr1:216093620-216093621	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs547740720	chr1:216093666-216093667	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs570733337	chr1:216093713-216093714	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs116224835	chr1:216093751-216093752	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs568763123	chr1:216093752-216093753	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs540874606	chr1:216093829-216093830	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs184926732	chr1:216093845-216093846	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs537329308	chr1:216093862-216093863	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs570306181	chr1:216093909-216093910	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs536012564	chr1:216093971-216093972	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs115352164	chr1:216094076-216094077	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs574186925	chr1:216094098-216094099	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs74851622	chr1:216094106-216094107	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Liposarcoma	21253554	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Multiple myeloma	16461302	CNVD
van der Woude syndrome	22470819	CNVD
van der Woude syndrome	20818247	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Holoprosencephaly	19184110	CNVD
Breast cancer	21069454	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Acute myeloid leukemia	17268525	CNVD
Lung cancer	16740712	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17053054	CNVD
Developmental delay	21147756	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	19212409	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Glioma	20126413	CNVD

Chromatin state (count:319 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:216086400-216086800	Enhancers	Pancreatic Islets	Pancreatic Islet
2	chr1:216092800-216093600	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr1:216092800-216096400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr1:216093200-216094200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:216093400-216094000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr1:216096400-216097000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr1:216096600-216097000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr1:216101800-216102200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr1:216103000-216104400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr1:216103400-216104800	Enhancers	Pancreatic Islets	Pancreatic Islet
11	chr1:216104400-216109800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr1:216104800-216105200	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr1:216105200-216106000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr1:216105200-216106000	Enhancers	Pancreatic Islets	Pancreatic Islet
15	chr1:216105200-216106200	Enhancers	Fetal Intestine Small	intestine
16	chr1:216105400-216106400	Enhancers	Fetal Intestine Large	intestine
17	chr1:216105600-216106200	Enhancers	Liver	Liver
18	chr1:216106400-216107000	Weak transcription	Fetal Intestine Large	intestine
19	chr1:216107000-216107200	Enhancers	Fetal Intestine Large	intestine
20	chr1:216109800-216111200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr1:216110600-216111000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr1:216111600-216112400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr1:216117000-216117800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr1:216129600-216131000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr1:216129800-216132200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr1:216130600-216130800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr1:216130800-216131000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr1:216130800-216131000	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr1:216130800-216131200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr1:216130800-216131200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr1:216130800-216132000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr1:216131000-216131200	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr1:216131000-216131400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr1:216131000-216131400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr1:216131200-216131400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr1:216131200-216131400	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr1:216131200-216132000	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr1:216131400-216131800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr1:216131400-216132400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr1:216131400-216132400	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr1:216131400-216133400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr1:216132000-216144000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr1:216132200-216133200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr1:216133000-216133400	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr1:216133200-216133400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr1:216139000-216142600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr1:216142400-216142600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr1:216142600-216143800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr1:216142600-216145600	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr1:216143200-216146000	Enhancers	Fetal Heart	heart

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