Variant report

Variant	nsv541510
Chromosome Location	chr12:63526274-63920372
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1723)
CpG islands
(count:917)
Chromatin interactive
region (count:47)
LncRNA
region (count:9)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1723 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:63813947-63814280	K562	blood:	n/a	n/a
2	ARID3A	chr12:63670554-63670812	HepG2	liver:	n/a	n/a
3	ARID3A	chr12:63687901-63688475	HepG2	liver:	n/a	n/a
4	ATF1	chr12:63874624-63874684	K562	blood:	n/a	n/a
5	BACH1	chr12:63835477-63835549	K562	blood:	n/a	n/a
6	BACH1	chr12:63544074-63544342	H1-hESC	embryonic stem cell:	n/a	n/a
7	BACH1	chr12:63545234-63545470	H1-hESC	embryonic stem cell:	n/a	n/a
8	BATF	chr12:63812966-63813225	GM12878	blood:	n/a	chr12:63813058-63813069 chr12:63813086-63813097 chr12:63813114-63813125
9	BCL11A	chr12:63696177-63696349	GM12878	blood:	n/a	n/a
10	BHLHE40	chr12:63698603-63699162	GM12878	blood:	n/a	n/a
11	BHLHE40	chr12:63550104-63550132	GM12878	blood:	n/a	n/a
12	BHLHE40	chr12:63696066-63696525	GM12878	blood:	n/a	n/a
13	BHLHE40	chr12:63700346-63700760	GM12878	blood:	n/a	n/a
14	BRCA1	chr12:63600642-63601071	Hela-S3	cervix:	n/a	n/a
15	CBX3	chr12:63570065-63570332	K562	blood:	n/a	n/a
16	CBX3	chr12:63813973-63814373	K562	blood:	n/a	n/a
17	CBX3	chr12:63812814-63813379	HCT-116	colon:	n/a	n/a
18	CBX3	chr12:63813979-63814307	K562	blood:	n/a	n/a
19	CBX3	chr12:63687968-63688473	HCT-116	colon:	n/a	n/a
20	CBX3	chr12:63812790-63813727	HCT-116	colon:	n/a	n/a
21	CEBPB	chr12:63616909-63617221	IMR90	lung:	n/a	chr12:63617048-63617059 chr12:63617110-63617121 chr12:63617048-63617061
22	CEBPB	chr12:63839798-63840058	IMR90	lung:	n/a	chr12:63839911-63839922
23	CEBPB	chr12:63916557-63916595	HepG2	liver:	n/a	chr12:63916575-63916586
24	CEBPB	chr12:63572966-63573073	K562	blood:	n/a	n/a
25	CEBPB	chr12:63916532-63916622	A549	lung:	n/a	chr12:63916575-63916586
26	CEBPB	chr12:63613516-63613778	IMR90	lung:	n/a	n/a
27	CEBPB	chr12:63616996-63617194	A549	lung:	n/a	chr12:63617048-63617059 chr12:63617110-63617121 chr12:63617048-63617061
28	CEBPB	chr12:63647886-63648072	A549	lung:	n/a	n/a
29	CEBPB	chr12:63572887-63573147	A549	lung:	n/a	n/a
30	CEBPB	chr12:63577350-63577566	HepG2	liver:	n/a	chr12:63577475-63577486
31	CEBPB	chr12:63749118-63749197	HepG2	liver:	n/a	chr12:63749160-63749171
32	CEBPB	chr12:63554623-63554689	A549	lung:	n/a	n/a
33	CEBPB	chr12:63600554-63601331	MCF-7	breast:	n/a	n/a
34	CEBPB	chr12:63600785-63601096	A549	lung:	n/a	n/a
35	CEBPB	chr12:63607177-63607379	A549	lung:	n/a	n/a
36	CEBPB	chr12:63748967-63749256	A549	lung:	n/a	chr12:63749160-63749171
37	CEBPB	chr12:63600679-63601182	Hela-S3	cervix:	n/a	n/a
38	CEBPB	chr12:63794562-63794848	Hela-S3	cervix:	n/a	n/a
39	CEBPB	chr12:63625166-63625226	HepG2	liver:	n/a	chr12:63625189-63625200
40	CEBPB	chr12:63532789-63533034	A549	lung:	n/a	n/a
41	CEBPB	chr12:63839788-63839947	H1-hESC	embryonic stem cell:	n/a	chr12:63839911-63839922
42	CEBPB	chr12:63616923-63617223	HepG2	liver:	n/a	chr12:63617048-63617059 chr12:63617110-63617121 chr12:63617048-63617061
43	CEBPB	chr12:63839778-63840018	HepG2	liver:	n/a	chr12:63839911-63839922
44	CEBPB	chr12:63569649-63569765	A549	lung:	n/a	chr12:63569707-63569718
45	CEBPB	chr12:63717194-63717420	Hela-S3	cervix:	n/a	n/a
46	CEBPB	chr12:63717238-63717470	IMR90	lung:	n/a	n/a
47	CEBPB	chr12:63569647-63569844	HepG2	liver:	n/a	chr12:63569707-63569718
48	CEBPB	chr12:63573010-63573086	H1-hESC	embryonic stem cell:	n/a	n/a
49	CEBPB	chr12:63624366-63624484	HepG2	liver:	n/a	chr12:63624438-63624449
50	CEBPB	chr12:63600261-63601236	MCF-7	breast:	n/a	n/a

(count:917 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:63544319-63544369	GM12891	blood:	n/a
2	chr12:63543831-63543881	H1-hESC	embryonic stem cell:	embryo
3	chr12:63544319-63544369	GM12891	blood:	n/a
4	chr12:63543831-63543881	H1-hESC	embryonic stem cell:	embryo
5	chr12:63544857-63544907	Hela-S3	cervix:	n/a
6	chr12:63544430-63544480	PrEC	prostate:	n/a
7	chr12:63540400-63540450	GM12891	blood:	n/a
8	chr12:63547716-63547766	HMEC	breast:	n/a
9	chr12:63546263-63546313	HCF	heart:	n/a
10	chr12:63543831-63543881	HRE	kidney:	n/a
11	chr12:63754169-63754219	GM19239	blood:	n/a
12	chr12:63544857-63544907	HUVEC	blood vessel:	n/a
13	chr12:63545783-63545833	GM19239	blood:	n/a
14	chr12:63543831-63543881	NB4	blood:	n/a
15	chr12:63545956-63546006	HCT-116	colon:	n/a
16	chr12:63544175-63544225	HEK293	kidney:	embryo
17	chr12:63544923-63544973	MCF10A-Er-Src	breast:	n/a
18	chr12:63543831-63543881	SAEC	small airway:	n/a
19	chr12:63754169-63754219	HPAEpiC	pulmonary alveolar:	n/a
20	chr12:63544319-63544369	ProgFib	skin:	n/a
21	chr12:63547716-63547766	Hepatocyte	liver:	n/a
22	chr12:63543831-63543881	Hepatocyte	liver:	n/a
23	chr12:63754169-63754219	AoSMC	blood vessel:	n/a
24	chr12:63543831-63543881	AG09319	gingival:	n/a
25	chr12:63545288-63545338	AoSMC	blood vessel:	n/a
26	chr12:63545956-63546006	HNPCEpiC	eye:	n/a
27	chr12:63545288-63545338	GM06990	blood:	n/a
28	chr12:63545288-63545338	LNCaP	prostate:	n/a
29	chr12:63546263-63546313	NT2-D1	testis:	n/a
30	chr12:63545288-63545338	NH-A	brain:	n/a
31	chr12:63545956-63546006	AG04449	skin:	fetal
32	chr12:63545523-63545573	HCF	heart:	n/a
33	chr12:63547716-63547766	Hela-S3	cervix:	n/a
34	chr12:63544319-63544369	HepG2	liver:	n/a
35	chr12:63544175-63544225	HMEC	breast:	n/a
36	chr12:63545523-63545573	NHBE	bronchial:	n/a
37	chr12:63544857-63544907	NHDF-neo	bronchial:	n/a
38	chr12:63543831-63543881	ProgFib	skin:	n/a
39	chr12:63545523-63545573	U87	brain:	n/a
40	chr12:63543831-63543881	AG10803	skin:	n/a
41	chr12:63547716-63547766	PFSK-1	brain:	n/a
42	chr12:63545288-63545338	HUVEC	blood vessel:	n/a
43	chr12:63545956-63546006	K562	blood:	n/a
44	chr12:63544430-63544480	BE2_C	brain:	n/a
45	chr12:63544923-63544973	HRCEpiC	kidney:	n/a
46	chr12:63545523-63545573	PrEC	prostate:	n/a
47	chr12:63754169-63754219	SAEC	small airway:	n/a
48	chr12:63545783-63545833	HIPEpiC	eye:	n/a
49	chr12:63545288-63545338	GM12892	blood:	n/a
50	chr12:63545783-63545833	HEEpiC	esophagus:	n/a

(count:47 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:63535701..63537481-chr12:63551924..63553918,2	MCF-7	breast:
2	chr12:63678879..63681620-chr17:58469964..58471603,2	MCF-7	breast:
3	chr12:63799854..63801447-chr12:63805061..63807630,2	MCF-7	breast:
4	chr12:63808447..63811341-chr3:64933107..64935525,2	MCF-7	breast:
5	chr12:63743207..63745868-chr12:63754623..63756737,2	K562	blood:
6	chr12:63540258..63542828-chr12:63547028..63548966,2	K562	blood:
7	chr12:63599815..63602634-chr12:63602685..63604731,2	MCF-7	breast:
8	chr12:63545448..63546470-chr12:63670124..63671316,6	MCF-7	breast:
9	chr12:63902632..63905089-chr12:63908351..63910373,2	MCF-7	breast:
10	chr12:63545559..63546473-chr12:63669896..63671149,5	MCF-7	breast:
11	chr12:63793684..63795622-chr12:63796848..63799129,2	K562	blood:
12	chr12:63902632..63905089-chr12:63908351..63910373,2	MCF-7	breast:
13	chr12:63540258..63542828-chr12:63547028..63548966,2	K562	blood:
14	chr12:63522003..63524350-chr12:63527022..63529275,2	K562	blood:
15	chr12:63497332..63498958-chr12:63670308..63671121,8	MCF-7	breast:
16	chr12:63714796..63717603-chr12:63718432..63720998,3	K562	blood:
17	chr12:63793684..63795622-chr12:63796848..63799129,2	K562	blood:
18	chr12:63545428..63546206-chr12:63674883..63675724,2	MCF-7	breast:
19	chr12:63712966..63713795-chr12:64159977..64160513,2	MCF-7	breast:
20	chr12:63545428..63546206-chr12:63674883..63675724,2	MCF-7	breast:
21	chr12:63545448..63546470-chr12:63670124..63671316,6	MCF-7	breast:
22	chr12:63813649..63814184-chr12:64195525..64196396,2	K562	blood:
23	chr12:63799854..63801447-chr12:63805061..63807630,2	MCF-7	breast:
24	chr12:63497053..63498247-chr12:63670255..63671252,4	K562	blood:
25	chr12:63719488..63722157-chr12:63724086..63726677,2	K562	blood:
26	chr12:63743207..63745868-chr12:63754623..63756737,2	K562	blood:
27	chr12:62996207..62999162-chr12:63547684..63549229,2	MCF-7	breast:
28	chr12:63599815..63602634-chr12:63602685..63604731,2	MCF-7	breast:
29	chr12:63708417..63710682-chr12:63712108..63713769,2	K562	blood:
30	chr12:63893978..63896181-chr12:64171241..64172887,2	K562	blood:
31	chr12:63912615..63915340-chr12:63916183..63918806,2	K562	blood:
32	chr12:63544050..63546794-chr12:63669922..63672775,2	MCF-7	breast:
33	chr12:63535701..63537481-chr12:63551924..63553918,2	MCF-7	breast:
34	chr12:63779288..63781863-chr12:63785380..63788131,2	K562	blood:
35	chr12:63545419..63546376-chr12:64195555..64196413,2	MCF-7	breast:
36	chr12:63842271..63844496-chr12:63846747..63849454,2	MCF-7	breast:
37	chr12:63496969..63497998-chr12:63670271..63671167,8	MCF-7	breast:
38	chr12:63719488..63722157-chr12:63724086..63726677,2	K562	blood:
39	chr12:63632053..63632963-chr5:177630919..177631572,2	Hela-S3	cervix:
40	chr12:63779288..63781863-chr12:63785380..63788131,2	K562	blood:
41	chr12:63617360..63618250-chr8:143764719..143765546,2	MCF-7	breast:
42	chr12:63545559..63546473-chr12:63669896..63671149,5	MCF-7	breast:
43	chr12:63708417..63710682-chr12:63712108..63713769,2	K562	blood:
44	chr12:63714796..63717603-chr12:63718432..63720998,3	K562	blood:
45	chr12:63912615..63915340-chr12:63916183..63918806,2	K562	blood:
46	chr12:63768242..63768742-chr9:139887190..139887694,2	Hela-S3	cervix:
47	chr12:63842271..63844496-chr12:63846747..63849454,2	MCF-7	breast:

(count:9 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AVPR1A-1	chr12:63686409-63686716	ENSG00000258117
2	lnc-MON2-3	chr12:63547640-63547786	ENSG00000257973.1
3	lnc-TMEM5-5	chr12:63580624-63580735	l_664_chr12:63563604-63657550_brain
4	lnc-TMEM5-5	chr12:63654629-63657550	l_664_chr12:63563604-63657550_brain
5	lnc-TMEM5-5	chr12:63563762-63563912	l_664_chr12:63563604-63657550_brain
6	lnc-AVPR1A-1	chr12:63753656-63753817	ENSG00000258117
7	lnc-MON2-3	chr12:63544845-63544872	ENSG00000257973.1
8	lnc-MON2-3	chr12:63546261-63546418	ENSG00000257973.1
9	lnc-TMEM5-5	chr12:63563605-63563746	l_664_chr12:63563604-63657550_brain

No data

Variant related genes	Relation type
HNRNPA1P69	TF binding region
AVPR1A	TF binding region
ENSG00000258117	TF binding region
HNRNPA1P69	CpG island
AVPR1A	CpG island
ENSG00000258117	CpG island
ENSG00000221949	chromatin interactions
ENSG00000197451	chromatin interactions
ENSG00000199179	chromatin interactions
ENSG00000148362	chromatin interactions
ENSG00000166148	chromatin interactions
ENSG00000257354	chromatin interactions

Extended variants
information (count: 7198 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:7198 , 50 per page) page: 1 2 3 4 5 6 7 ... 144

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113244025	chr12:63530000-63530001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs542375786	chr12:63530042-63530043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs555551461	chr12:63530115-63530116	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs375019037	chr12:63530136-63530137	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs553276648	chr12:63530138-63530139	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs544553223	chr12:63530139-63530140	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs73327816	chr12:63530173-63530174	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs532980219	chr12:63530180-63530181	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs539932692	chr12:63530208-63530209	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs117818946	chr12:63530222-63530223	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs1587097	chr12:63530245-63530246	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs570222981	chr12:63530252-63530253	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs61936377	chr12:63530291-63530292	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs149713499	chr12:63530368-63530369	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs73327818	chr12:63530370-63530371	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs551733016	chr12:63530417-63530418	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs570837085	chr12:63530420-63530421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs575700828	chr12:63530431-63530432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs539791984	chr12:63530443-63530444	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs546693828	chr12:63530445-63530446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs79288294	chr12:63530501-63530502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs535581325	chr12:63530547-63530548	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs145646402	chr12:63530555-63530556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs575476164	chr12:63530577-63530578	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs7972829	chr12:63530607-63530608	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs558060535	chr12:63530653-63530654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs184425211	chr12:63530654-63530655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs563228006	chr12:63530729-63530730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs188473818	chr12:63530745-63530746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs139729942	chr12:63530746-63530747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs559893189	chr12:63530806-63530807	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs573675952	chr12:63530841-63530842	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs542783955	chr12:63530902-63530903	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs7976075	chr12:63530930-63530931	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs531564476	chr12:63530942-63530943	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs144627473	chr12:63530943-63530944	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs113287749	chr12:63530984-63530985	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs559358944	chr12:63530985-63530986	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs147864681	chr12:63531008-63531009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs10877966	chr12:63531020-63531021	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs377205530	chr12:63531046-63531047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs544630590	chr12:63531058-63531059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs566800694	chr12:63531084-63531085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs141541488	chr12:63531122-63531123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs544222076	chr12:63531147-63531148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs549101835	chr12:63531236-63531237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs370700196	chr12:63531238-63531239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs369697974	chr12:63531274-63531275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs11174804	chr12:63531303-63531304	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs536846963	chr12:63531342-63531343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
Breast cancer	21364760	CNVD
Mental retardation	17220210	CNVD
Osteopoikilosis	17220210	CNVD
short stature	17220210	CNVD
Burkitt''s lymphoma	20823134	CNVD
abnormal development	18461090	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	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	16620391	CNVD
Autism	21865298	CNVD

Chromatin state (count:866 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:63530000-63530600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr12:63530600-63532200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr12:63530800-63531000	Enhancers	Liver	Liver
4	chr12:63531000-63538400	Weak transcription	Liver	Liver
5	chr12:63532400-63532600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr12:63537400-63537800	Enhancers	Adipose Nuclei	Adipose
7	chr12:63537400-63538000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr12:63537800-63540400	Weak transcription	Adipose Nuclei	Adipose
9	chr12:63538000-63539800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr12:63538400-63540400	Strong transcription	Liver	Liver
11	chr12:63539800-63540200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr12:63540200-63540600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr12:63540400-63540600	Bivalent/Poised TSS	Fetal Muscle Leg	muscle
14	chr12:63540400-63541000	Genic enhancers	Liver	Liver
15	chr12:63540400-63541200	Active TSS	Psoas Muscle	Psoas
16	chr12:63540400-63543200	Active TSS	Adipose Nuclei	Adipose
17	chr12:63540600-63541000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr12:63541000-63541200	Weak transcription	Liver	Liver
19	chr12:63541000-63542600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr12:63541200-63541400	Flanking Active TSS	Liver	Liver
21	chr12:63541200-63541400	Flanking Active TSS	Psoas Muscle	Psoas
22	chr12:63541400-63543800	Active TSS	Liver	Liver
23	chr12:63541800-63542200	Weak transcription	Psoas Muscle	Psoas
24	chr12:63542000-63543200	Active TSS	Fetal Muscle Leg	muscle
25	chr12:63542200-63542400	Bivalent/Poised TSS	Fetal Brain Female	brain
26	chr12:63542200-63543400	Active TSS	Fetal Stomach	stomach
27	chr12:63542600-63543800	Bivalent/Poised TSS	Right Ventricle	heart
28	chr12:63542600-63545200	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr12:63542800-63545000	Bivalent Enhancer	Fetal Brain Male	brain
30	chr12:63543000-63543200	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
31	chr12:63543000-63543800	Bivalent/Poised TSS	Fetal Brain Female	brain
32	chr12:63543200-63543600	Active TSS	Fetal Muscle Trunk	muscle
33	chr12:63543200-63543600	Active TSS	Psoas Muscle	Psoas
34	chr12:63543200-63543800	Bivalent/Poised TSS	Adipose Nuclei	Adipose
35	chr12:63543200-63543800	Bivalent/Poised TSS	Fetal Muscle Leg	muscle
36	chr12:63543200-63543800	Bivalent/Poised TSS	Left Ventricle	heart
37	chr12:63543200-63543800	Active TSS	Right Atrium	heart
38	chr12:63543200-63544000	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
39	chr12:63543200-63546400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
40	chr12:63543400-63543600	Enhancers	Pancreas	Pancrea
41	chr12:63543400-63543800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
42	chr12:63543400-63543800	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
43	chr12:63543400-63543800	Bivalent/Poised TSS	Fetal Stomach	stomach
44	chr12:63543400-63543800	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
45	chr12:63543600-63543800	Bivalent/Poised TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr12:63543600-63543800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr12:63543600-63543800	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
48	chr12:63543600-63543800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
49	chr12:63543600-63543800	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
50	chr12:63543600-63543800	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell

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