Variant report

Variant	nsv747
Chromosome Location	chr12:64391572-64423998
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:64403883-64404189	HepG2	liver:	n/a	n/a
2	BATF	chr12:64403552-64403767	GM12878	blood:	n/a	n/a
3	BATF	chr12:64403466-64404150	GM12878	blood:	n/a	n/a
4	BHLHE40	chr12:64403435-64404221	GM12878	blood:	n/a	n/a
5	CEBPB	chr12:64422507-64422677	IMR90	lung:	n/a	n/a
6	CEBPB	chr12:64413600-64413610	H1-hESC	embryonic stem cell:	n/a	n/a
7	CEBPB	chr12:64413452-64413783	IMR90	lung:	n/a	chr12:64413628-64413639
8	CEBPB	chr12:64413495-64413772	A549	lung:	n/a	chr12:64413628-64413639
9	CEBPB	chr12:64413485-64413780	HepG2	liver:	n/a	chr12:64413628-64413639
10	CTCF	chr12:64400340-64400490	AG04449	skin:	n/a	n/a
11	CTCF	chr12:64421120-64421270	A549	lung:	n/a	n/a
12	CTCF	chr12:64401217-64401295	Spleen_OC	spleen:	n/a	n/a
13	CTCF	chr12:64400240-64400390	HCPEpiC	choroid plexus:	n/a	n/a
14	CTCF	chr12:64407220-64407370	A549	lung:	n/a	n/a
15	CTCF	chr12:64403808-64403961	GM12878	blood:	n/a	n/a
16	EBF1	chr12:64403675-64404177	GM12878	blood:	n/a	n/a
17	EP300	chr12:64403289-64404399	GM12878	blood:	n/a	chr12:64403390-64403398 chr12:64403493-64403507 chr12:64403953-64403967
18	EP300	chr12:64403556-64404086	GM12878	blood:	n/a	chr12:64403953-64403967
19	EP300	chr12:64412368-64413493	MCF-7	breast:	n/a	n/a
20	EP300	chr12:64403664-64404406	MCF-7	breast:	n/a	chr12:64403953-64403967
21	ESR1	chr12:64422859-64423085	ECC-1	luminal epithelium:	n/a	n/a
22	FOSL2	chr12:64403666-64404321	MCF-7	breast:	n/a	chr12:64403976-64403988 chr12:64403977-64403987 chr12:64403977-64403987 chr12:64403959-64403971 chr12:64403978-64403986 chr12:64403977-64403987
23	FOSL2	chr12:64403678-64404314	A549	lung:	n/a	chr12:64403976-64403988 chr12:64403977-64403987 chr12:64403977-64403987 chr12:64403959-64403971 chr12:64403978-64403986 chr12:64403977-64403987
24	FOSL2	chr12:64403703-64404517	MCF-7	breast:	n/a	chr12:64403976-64403988 chr12:64403977-64403987 chr12:64403977-64403987 chr12:64403959-64403971 chr12:64403978-64403986 chr12:64403977-64403987
25	FOXA1	chr12:64410384-64410641	T-47D	breast:	n/a	n/a
26	FOXA1	chr12:64403688-64404123	HepG2	liver:	n/a	n/a
27	FOXA1	chr12:64410417-64410694	T-47D	breast:	n/a	n/a
28	GATA2	chr12:64412519-64413238	SH-SY5Y	brain:	n/a	chr12:64413076-64413097 chr12:64413079-64413095 chr12:64413079-64413095
29	GATA2	chr12:64399986-64400226	SH-SY5Y	brain:	n/a	chr12:64400073-64400080 chr12:64400061-64400070 chr12:64400073-64400080 chr12:64400061-64400071 chr12:64400063-64400070 chr12:64400073-64400080
30	GATA3	chr12:64410400-64410676	T-47D	breast:	n/a	n/a
31	GATA3	chr12:64401394-64402110	MCF-7	breast:	n/a	chr12:64401772-64401779 chr12:64401772-64401779 chr12:64401772-64401779 chr12:64401770-64401779 chr12:64401765-64401786
32	GATA3	chr12:64412152-64413007	MCF-7	breast:	n/a	n/a
33	GATA3	chr12:64412216-64412864	MCF-7	breast:	n/a	n/a
34	GATA3	chr12:64422774-64423399	SK-N-SH	brain:	n/a	chr12:64423050-64423062
35	GATA3	chr12:64412440-64413309	MCF-7	breast:	n/a	chr12:64413076-64413097 chr12:64413079-64413095 chr12:64413079-64413095
36	GATA3	chr12:64403459-64404483	MCF-7	breast:	n/a	chr12:64404160-64404171
37	GATA3	chr12:64403696-64404405	SK-N-SH	brain:	n/a	chr12:64404160-64404171
38	GATA3	chr12:64403920-64404383	MCF-7	breast:	n/a	chr12:64404160-64404171
39	GATA3	chr12:64401339-64402044	MCF-7	breast:	n/a	chr12:64401772-64401779 chr12:64401772-64401779 chr12:64401772-64401779 chr12:64401770-64401779 chr12:64401765-64401786
40	GATA3	chr12:64403889-64404236	T-47D	breast:	n/a	chr12:64404160-64404171
41	GATA3	chr12:64401320-64402168	SK-N-SH	brain:	n/a	chr12:64401772-64401779 chr12:64401772-64401779 chr12:64401772-64401779 chr12:64401770-64401779 chr12:64401765-64401786
42	GATA3	chr12:64403839-64404211	MCF-7	breast:	n/a	chr12:64404160-64404171
43	GATA3	chr12:64413854-64414090	SH-SY5Y	brain:	n/a	n/a
44	GATA3	chr12:64403705-64404391	SK-N-SH	brain:	n/a	chr12:64404160-64404171
45	GATA3	chr12:64422671-64423387	SK-N-SH	brain:	n/a	chr12:64423050-64423062
46	GATA3	chr12:64403632-64404473	MCF-7	breast:	n/a	chr12:64404160-64404171
47	GATA3	chr12:64412348-64413177	SH-SY5Y	brain:	n/a	chr12:64413076-64413097 chr12:64413079-64413095 chr12:64413079-64413095
48	GATA3	chr12:64412453-64413036	MCF-7	breast:	n/a	n/a
49	GATA3	chr12:64401246-64402200	SK-N-SH	brain:	n/a	chr12:64401772-64401779 chr12:64401772-64401779 chr12:64401772-64401779 chr12:64401770-64401779 chr12:64401765-64401786
50	HDAC2	chr12:64403706-64404345	MCF-7	breast:	n/a	chr12:64403952-64403966 chr12:64403954-64403968 chr12:64403951-64403965

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:64422478-64422528	MCF10A-Er-Src	breast:	n/a
2	chr12:64403751-64403801	ECC-1	luminal epithelium:	n/a
3	chr12:64415282-64415332	PFSK-1	brain:	n/a
4	chr12:64422478-64422528	Caco-2	colon:	n/a
5	chr12:64403751-64403801	HCPEpiC	choroid plexus:	n/a
6	chr12:64403751-64403801	PFSK-1	brain:	n/a
7	chr12:64403751-64403801	HRE	kidney:	n/a
8	chr12:64403751-64403801	RPTEC	kidney:	n/a
9	chr12:64422478-64422528	HIPEpiC	eye:	n/a
10	chr12:64422478-64422528	Hela-S3	cervix:	n/a
11	chr12:64422478-64422528	SK-N-MC	brain:	n/a
12	chr12:64415282-64415332	Hepatocyte	liver:	n/a
13	chr12:64422478-64422528	LNCaP	prostate:	n/a
14	chr12:64415282-64415332	HRE	kidney:	n/a
15	chr12:64415282-64415332	BE2_C	brain:	n/a
16	chr12:64422478-64422528	BE2_C	brain:	n/a
17	chr12:64403751-64403801	GM19239	blood:	n/a
18	chr12:64422478-64422528	HUVEC	blood vessel:	n/a
19	chr12:64415282-64415332	HNPCEpiC	eye:	n/a
20	chr12:64403751-64403801	SAEC	small airway:	n/a
21	chr12:64415282-64415332	GM12892	blood:	n/a
22	chr12:64415282-64415332	IMR90	lung:	fetal
23	chr12:64415282-64415332	MCF10A-Er-Src	breast:	n/a
24	chr12:64415282-64415332	PANC-1	pancreas:	n/a
25	chr12:64403751-64403801	AG04450	lung:	fetal
26	chr12:64415282-64415332	HEK293	kidney:	embryo
27	chr12:64415282-64415332	GM12878	blood:	n/a
28	chr12:64403751-64403801	HRPEpiC	eye:	n/a
29	chr12:64422478-64422528	HepG2	liver:	n/a
30	chr12:64403751-64403801	T-47D	breast:	n/a
31	chr12:64422478-64422528	HPAEpiC	pulmonary alveolar:	n/a
32	chr12:64415282-64415332	ProgFib	skin:	n/a
33	chr12:64403751-64403801	MCF10A-Er-Src	breast:	n/a
34	chr12:64415282-64415332	NB4	blood:	n/a
35	chr12:64422478-64422528	HNPCEpiC	eye:	n/a
36	chr12:64422478-64422528	HRE	kidney:	n/a
37	chr12:64415282-64415332	SK-N-SH	brain:	n/a
38	chr12:64403751-64403801	U87	brain:	n/a
39	chr12:64422478-64422528	Hepatocyte	liver:	n/a
40	chr12:64403751-64403801	SK-N-SH	brain:	n/a
41	chr12:64422478-64422528	HCPEpiC	choroid plexus:	n/a
42	chr12:64422478-64422528	GM12891	blood:	n/a
43	chr12:64403751-64403801	HL-60	blood:	n/a
44	chr12:64422478-64422528	PrEC	prostate:	n/a
45	chr12:64415282-64415332	HCT-116	colon:	n/a
46	chr12:64415282-64415332	HIPEpiC	eye:	n/a
47	chr12:64422478-64422528	HEEpiC	esophagus:	n/a
48	chr12:64415282-64415332	Caco-2	colon:	n/a
49	chr12:64422478-64422528	Jurkat	blood:	n/a
50	chr12:64403751-64403801	GM12878	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:64406060..64409789-chr12:64614427..64616806,4	MCF-7	breast:
2	chr12:64238241..64240082-chr12:64423216..64424732,2	MCF-7	breast:
3	chr12:64386194..64388353-chr12:64398792..64400563,2	MCF-7	breast:
4	chr12:64262850..64264983-chr12:64404690..64407382,2	MCF-7	breast:
5	chr12:64421565..64423424-chr12:64425072..64428003,2	MCF-7	breast:
6	chr12:64402701..64405332-chr12:64614473..64617172,2	MCF-7	breast:
7	chr12:64237509..64239718-chr12:64412399..64415235,3	MCF-7	breast:
8	chr12:64412133..64413660-chr12:64473732..64475672,16	MCF-7	breast:
9	chr12:64394276..64396120-chr12:64400937..64402998,2	MCF-7	breast:
10	chr12:64394276..64396120-chr12:64400937..64402998,2	MCF-7	breast:
11	chr12:64412343..64415167-chr12:64418883..64421225,2	MCF-7	breast:
12	chr12:64237205..64239783-chr12:64397921..64400316,2	MCF-7	breast:
13	chr12:64401735..64404155-chr12:64409060..64411714,2	MCF-7	breast:
14	chr12:64412804..64413418-chr12:64474969..64475583,2	MCF-7	breast:
15	chr12:64383282..64387924-chr12:64391435..64393983,4	MCF-7	breast:
16	chr12:64422018..64423805-chr12:64615008..64617645,2	MCF-7	breast:
17	chr12:64397033..64398653-chr12:64402137..64404710,2	K562	blood:
18	chr12:64236732..64239854-chr12:64401083..64405979,5	MCF-7	breast:
19	chr12:64419626..64423414-chr12:64423977..64427882,5	MCF-7	breast:
20	chr12:64257643..64259888-chr12:64403526..64405520,2	MCF-7	breast:
21	chr12:64236584..64241512-chr12:64401758..64407787,10	MCF-7	breast:
22	chr12:64412551..64413520-chr12:64474744..64475552,3	MCF-7	breast:
23	chr12:64412343..64415167-chr12:64418883..64421225,2	MCF-7	breast:
24	chr12:64412133..64413527-chr12:64474147..64475612,6	MCF-7	breast:
25	chr12:64410697..64413143-chr12:64413594..64415107,2	MCF-7	breast:
26	chr12:64416925..64418864-chr12:64422529..64424581,2	K562	blood:
27	chr12:64405926..64408433-chr12:64412475..64415328,4	MCF-7	breast:
28	chr12:64401735..64404155-chr12:64409060..64411714,2	MCF-7	breast:
29	chr12:64395336..64397715-chr5:138219913..138222296,2	MCF-7	breast:
30	chr12:64403525..64404317-chr12:64474787..64475607,3	MCF-7	breast:
31	chr12:64405926..64408433-chr12:64412475..64415328,4	MCF-7	breast:
32	chr12:64416925..64418864-chr12:64422529..64424581,2	K562	blood:
33	chr12:64235421..64238263-chr12:64410167..64414177,3	MCF-7	breast:
34	chr12:64397033..64398653-chr12:64402137..64404710,2	K562	blood:
35	chr12:64410697..64413143-chr12:64413594..64415107,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TMEM5-3	chr12:64392054-64393594	NONHSAT029126

Variant related genes	Relation type
ENSG00000255780	TF binding region
ENSG00000255780	CpG island
ENSG00000044115	chromatin interactions
ENSG00000196935	chromatin interactions
ENSG00000243024	chromatin interactions
ENSG00000174206	chromatin interactions
ENSG00000255780	chromatin interactions

Extended variants
information (count: 1120 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:1120 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537012477	chr12:64391580-64391581	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs146758472	chr12:64391614-64391615	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs75035222	chr12:64391616-64391617	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs568527346	chr12:64391621-64391622	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs140375201	chr12:64391648-64391649	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs552884329	chr12:64391710-64391711	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs550792774	chr12:64391729-64391730	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs573040530	chr12:64391745-64391746	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs367629364	chr12:64391759-64391760	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs386763732	chr12:64391764-64391765	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs116514121	chr12:64391767-64391768	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs183900649	chr12:64391779-64391780	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs145008182	chr12:64391842-64391843	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs543383013	chr12:64391878-64391879	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs151255016	chr12:64391969-64391970	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs372921600	chr12:64391981-64391982	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs374547724	chr12:64392039-64392040	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs552873115	chr12:64392155-64392156	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
19	rs559685539	chr12:64392221-64392222	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
20	rs188945393	chr12:64392238-64392239	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
21	rs140437613	chr12:64392244-64392245	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
22	rs548515197	chr12:64392343-64392344	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
23	rs568137231	chr12:64392344-64392345	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
24	rs138213233	chr12:64392384-64392385	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
25	rs550556090	chr12:64392385-64392386	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
26	rs143996122	chr12:64392397-64392398	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
27	rs77799891	chr12:64392401-64392402	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
28	rs553259899	chr12:64392413-64392414	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
29	rs572938018	chr12:64392426-64392427	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
30	rs535603970	chr12:64392439-64392440	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
31	rs555163851	chr12:64392488-64392489	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
32	rs7313754	chr12:64392500-64392501	Weak transcription Strong transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs190631996	chr12:64392562-64392563	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
34	rs112866528	chr12:64392586-64392587	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
35	rs113944392	chr12:64392652-64392653	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
36	rs79179466	chr12:64392766-64392767	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
37	rs58006550	chr12:64392779-64392780	Weak transcription Strong transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs11175227	chr12:64392795-64392796	Weak transcription Strong transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs71452566	chr12:64392815-64392816	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
40	rs112337531	chr12:64392910-64392911	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
41	rs528806773	chr12:64392913-64392914	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
42	rs548755811	chr12:64392948-64392949	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
43	rs562278813	chr12:64392949-64392950	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
44	rs530614104	chr12:64393025-64393026	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
45	rs550743899	chr12:64393061-64393062	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
46	rs539370895	chr12:64393063-64393064	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
47	rs570440573	chr12:64393071-64393072	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
48	rs539455291	chr12:64393111-64393112	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
49	rs139367059	chr12:64393119-64393120	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
50	rs143288182	chr12:64393155-64393156	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Leukemia	18628472	CNVD
Phyllodes tumor	17334353	CNVD
Glaucoma	21310917	CNVD
Breast cancer	16272173	CNVD
Mental retardation	19951919	CNVD
Glaucoma	21447600	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Developmental delay	21267005	CNVD
12q14 microdeletion syndrome	21267005	CNVD
Developmental delay	19277063	CNVD
Dwarfism	19277063	CNVD
Fibroblasts	20926602	CNVD
Metanephric adenoma	20802469	CNVD
Follicular lymphoma	18703704	CNVD
Acute myeloid leukemia	21251322	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Multiple myeloma	16616336	CNVD
Lung cancer	16773561	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Mental retardation	17220210	CNVD
Osteopoikilosis	17220210	CNVD
short stature	17220210	CNVD
Burkitt''s lymphoma	20823134	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Ovarian neoplasms	16753589	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	16620391	CNVD

Chromatin state (count:474 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:64362800-64396000	Weak transcription	Psoas Muscle	Psoas
2	chr12:64377200-64400200	Weak transcription	Brain Germinal Matrix	brain
3	chr12:64377800-64396400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr12:64378000-64395200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr12:64379800-64395200	Weak transcription	Fetal Intestine Small	intestine
6	chr12:64380200-64433000	Weak transcription	Fetal Intestine Large	intestine
7	chr12:64382800-64399400	Weak transcription	HUVEC	blood vessel
8	chr12:64382800-64432800	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr12:64383000-64401200	Weak transcription	Fetal Muscle Trunk	muscle
10	chr12:64383600-64393000	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr12:64383600-64397600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr12:64383800-64425400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr12:64384600-64404000	Weak transcription	Stomach Smooth Muscle	stomach
14	chr12:64384800-64394800	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr12:64385000-64401000	Weak transcription	Ovary	ovary
16	chr12:64385000-64408800	Weak transcription	Hela-S3	cervix
17	chr12:64385000-64425600	Weak transcription	Left Ventricle	heart
18	chr12:64385200-64399600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr12:64385800-64399600	Weak transcription	NH-A	brain
20	chr12:64386400-64395200	Weak transcription	Brain Cingulate Gyrus	brain
21	chr12:64386400-64395600	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr12:64386600-64400000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr12:64386800-64392000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr12:64386800-64392200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr12:64386800-64395200	Weak transcription	Right Atrium	heart
26	chr12:64386800-64397800	Weak transcription	Brain Angular Gyrus	brain
27	chr12:64386800-64403600	Weak transcription	Brain Substantia Nigra	brain
28	chr12:64386800-64404200	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr12:64387000-64391600	Weak transcription	HSMMtube	muscle
30	chr12:64387400-64396000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr12:64388600-64391800	Enhancers	NHEK	skin
32	chr12:64388800-64392800	Weak transcription	Adipose Nuclei	Adipose
33	chr12:64388800-64393200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr12:64388800-64394400	Weak transcription	Fetal Brain Female	brain
35	chr12:64388800-64399000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr12:64388800-64399800	Weak transcription	Brain Hippocampus Middle	brain
37	chr12:64388800-64400200	Weak transcription	Fetal Brain Male	brain
38	chr12:64388800-64429800	Weak transcription	Pancreas	Pancrea
39	chr12:64389200-64400000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr12:64389400-64393000	Weak transcription	Brain Anterior Caudate	brain
41	chr12:64389400-64419200	Weak transcription	Fetal Kidney	kidney
42	chr12:64389400-64419200	Weak transcription	Fetal Lung	lung
43	chr12:64389600-64391800	Enhancers	HMEC	breast
44	chr12:64389600-64395600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr12:64389600-64398200	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr12:64389600-64398200	Weak transcription	Osteobl	bone
47	chr12:64389600-64417400	Weak transcription	Fetal Muscle Leg	muscle
48	chr12:64389800-64392800	Weak transcription	A549	lung
49	chr12:64390000-64393400	Strong transcription	NHDF-Ad	bronchial
50	chr12:64390200-64391800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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