Variant report

Variant	nsv873407
Chromosome Location	chr1:246106084-246148791
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	chr1:246119639-246119734	K562	blood:	n/a	n/a
2	ATF1	chr1:246119591-246119937	K562	blood:	n/a	n/a
3	ATF1	chr1:246124589-246124813	K562	blood:	n/a	n/a
4	BACH1	chr1:246117937-246117957	H1-hESC	embryonic stem cell:	n/a	n/a
5	BATF	chr1:246147682-246148067	GM12878	blood:	n/a	n/a
6	BATF	chr1:246147666-246148102	GM12878	blood:	n/a	n/a
7	BCL11A	chr1:246147660-246148089	GM12878	blood:	n/a	n/a
8	BHLHE40	chr1:246119570-246119851	K562	blood:	n/a	n/a
9	BHLHE40	chr1:246106369-246106426	GM12878	blood:	n/a	n/a
10	CEBPB	chr1:246142285-246142583	IMR90	lung:	n/a	n/a
11	CEBPB	chr1:246143664-246143900	H1-hESC	embryonic stem cell:	n/a	chr1:246143772-246143783 chr1:246143772-246143785
12	CEBPB	chr1:246108735-246108972	K562	blood:	n/a	chr1:246108842-246108853
13	CEBPB	chr1:246108670-246109007	HepG2	liver:	n/a	chr1:246108842-246108853
14	CEBPB	chr1:246134625-246134978	HepG2	liver:	n/a	chr1:246134801-246134810 chr1:246134801-246134812 chr1:246134799-246134810 chr1:246134799-246134812 chr1:246134799-246134812 chr1:246134801-246134810 chr1:246134801-246134810 chr1:246134801-246134810 chr1:246134801-246134812
15	CEBPB	chr1:246143723-246143859	Hela-S3	cervix:	n/a	chr1:246143772-246143783 chr1:246143772-246143785
16	CEBPB	chr1:246134710-246134994	ECC-1	luminal epithelium:	n/a	chr1:246134801-246134810 chr1:246134801-246134812 chr1:246134799-246134810 chr1:246134799-246134812 chr1:246134799-246134812 chr1:246134801-246134810 chr1:246134801-246134810 chr1:246134801-246134810 chr1:246134801-246134812
17	CEBPB	chr1:246125684-246125791	HepG2	liver:	n/a	chr1:246125707-246125718
18	CEBPB	chr1:246134614-246134989	K562	blood:	n/a	chr1:246134801-246134810 chr1:246134801-246134812 chr1:246134799-246134810 chr1:246134799-246134812 chr1:246134799-246134812 chr1:246134801-246134810 chr1:246134801-246134810 chr1:246134801-246134810 chr1:246134801-246134812
19	CEBPB	chr1:246134525-246135307	IMR90	lung:	n/a	chr1:246134801-246134810 chr1:246134801-246134812 chr1:246134799-246134810 chr1:246134799-246134812 chr1:246134799-246134812 chr1:246134801-246134810 chr1:246134801-246134810 chr1:246134801-246134810 chr1:246134801-246134812
20	CEBPB	chr1:246108775-246108982	IMR90	lung:	n/a	chr1:246108842-246108853
21	CEBPB	chr1:246136065-246136285	A549	lung:	n/a	n/a
22	CEBPB	chr1:246136032-246136299	HepG2	liver:	n/a	n/a
23	CEBPB	chr1:246143607-246143919	IMR90	lung:	n/a	chr1:246143772-246143783 chr1:246143772-246143785
24	CEBPB	chr1:246134659-246134971	A549	lung:	n/a	chr1:246134801-246134810 chr1:246134801-246134812 chr1:246134799-246134810 chr1:246134799-246134812 chr1:246134799-246134812 chr1:246134801-246134810 chr1:246134801-246134810 chr1:246134801-246134810 chr1:246134801-246134812
25	CEBPB	chr1:246143669-246143925	K562	blood:	n/a	chr1:246143772-246143783 chr1:246143772-246143785
26	CEBPB	chr1:246135997-246136310	IMR90	lung:	n/a	n/a
27	CEBPB	chr1:246143631-246143913	HepG2	liver:	n/a	chr1:246143772-246143783 chr1:246143772-246143785
28	CEBPB	chr1:246134778-246134888	Hela-S3	cervix:	n/a	chr1:246134801-246134810 chr1:246134801-246134812 chr1:246134799-246134810 chr1:246134799-246134812 chr1:246134799-246134812 chr1:246134801-246134810 chr1:246134801-246134810 chr1:246134801-246134810 chr1:246134801-246134812
29	CHD1	chr1:246117030-246117237	GM12878	blood:	n/a	n/a
30	CHD2	chr1:246116860-246117182	GM12878	blood:	n/a	n/a
31	CTCF	chr1:246124280-246124430	Caco-2	colon:	n/a	n/a
32	CTCF	chr1:246121720-246121870	BE2_C	brain:	n/a	n/a
33	CUX1	chr1:246115736-246116375	GM12878	blood:	n/a	n/a
34	CUX1	chr1:246119671-246119678	K562	blood:	n/a	n/a
35	EBF1	chr1:246116880-246117626	GM12878	blood:	n/a	n/a
36	EBF1	chr1:246106120-246106229	GM12878	blood:	n/a	n/a
37	EBF1	chr1:246124213-246124256	GM12878	blood:	n/a	n/a
38	EBF1	chr1:246146601-246146931	GM12878	blood:	n/a	chr1:246146769-246146780
39	EBF1	chr1:246115807-246116599	GM12878	blood:	n/a	chr1:246116442-246116453
40	EBF1	chr1:246146611-246146953	GM12878	blood:	n/a	chr1:246146769-246146780
41	EBF1	chr1:246147717-246148095	GM12878	blood:	n/a	n/a
42	EBF1	chr1:246146555-246147187	GM12878	blood:	n/a	chr1:246146769-246146780
43	ELF1	chr1:246117712-246117990	GM12878	blood:	n/a	n/a
44	EP300	chr1:246128813-246128887	GM12878	blood:	n/a	n/a
45	EP300	chr1:246132329-246133362	SK-N-SH	brain:	n/a	n/a
46	EP300	chr1:246124343-246125156	SK-N-SH	brain:	n/a	n/a
47	EP300	chr1:246124542-246124875	SK-N-SH_RA	brain:	n/a	n/a
48	EP300	chr1:246116841-246117676	GM12878	blood:	n/a	chr1:246117316-246117330 chr1:246117396-246117404 chr1:246117039-246117049 chr1:246117650-246117664
49	EP300	chr1:246132560-246133111	SK-N-SH_RA	brain:	n/a	n/a
50	EP300	chr1:246117879-246118012	GM12878	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:246136645-246136695	MCF10A-Er-Src	breast:	n/a
2	chr1:246136645-246136695	MCF10A-Er-Src	breast:	n/a
3	chr1:246125159-246125209	AG10803	skin:	n/a
4	chr1:246135274-246135324	ECC-1	luminal epithelium:	n/a
5	chr1:246136645-246136695	ECC-1	luminal epithelium:	n/a
6	chr1:246132061-246132111	HRPEpiC	eye:	n/a
7	chr1:246139198-246139248	AoSMC	blood vessel:	n/a
8	chr1:246141809-246141859	H1-hESC	embryonic stem cell:	embryo
9	chr1:246140350-246140400	PrEC	prostate:	n/a
10	chr1:246135274-246135324	GM19239	blood:	n/a
11	chr1:246136645-246136695	NH-A	brain:	n/a
12	chr1:246132061-246132111	HepG2	liver:	n/a
13	chr1:246139168-246139218	HRE	kidney:	n/a
14	chr1:246140350-246140400	NT2-D1	testis:	n/a
15	chr1:246136645-246136695	AG09309	skin:	n/a
16	chr1:246135274-246135324	LNCaP	prostate:	n/a
17	chr1:246136645-246136695	GM19239	blood:	n/a
18	chr1:246141809-246141859	BE2_C	brain:	n/a
19	chr1:246139168-246139218	GM12891	blood:	n/a
20	chr1:246140350-246140400	HRE	kidney:	n/a
21	chr1:246139198-246139248	SAEC	small airway:	n/a
22	chr1:246135274-246135324	U87	brain:	n/a
23	chr1:246132061-246132111	LNCaP	prostate:	n/a
24	chr1:246139198-246139248	NHBE	bronchial:	n/a
25	chr1:246135274-246135324	HPAEpiC	pulmonary alveolar:	n/a
26	chr1:246140350-246140400	HRPEpiC	eye:	n/a
27	chr1:246135274-246135324	T-47D	breast:	n/a
28	chr1:246139198-246139248	HCT-116	colon:	n/a
29	chr1:246139168-246139218	Hela-S3	cervix:	n/a
30	chr1:246140350-246140400	GM12892	blood:	n/a
31	chr1:246132061-246132111	GM06990	blood:	n/a
32	chr1:246139198-246139248	HCM	heart:	n/a
33	chr1:246136645-246136695	GM12892	blood:	n/a
34	chr1:246132061-246132111	HUVEC	blood vessel:	n/a
35	chr1:246125159-246125209	Jurkat	blood:	n/a
36	chr1:246136645-246136695	HCF	heart:	n/a
37	chr1:246132061-246132111	SK-N-SH_RA	brain:	n/a
38	chr1:246141809-246141859	PFSK-1	brain:	n/a
39	chr1:246141809-246141859	Hepatocyte	liver:	n/a
40	chr1:246132061-246132111	SK-N-SH	brain:	n/a
41	chr1:246136645-246136695	AG10803	skin:	n/a
42	chr1:246132061-246132111	HCPEpiC	choroid plexus:	n/a
43	chr1:246125159-246125209	GM12878	blood:	n/a
44	chr1:246141809-246141859	HCF	heart:	n/a
45	chr1:246139168-246139218	AG09309	skin:	n/a
46	chr1:246125159-246125209	ECC-1	luminal epithelium:	n/a
47	chr1:246136645-246136695	AG09319	gingival:	n/a
48	chr1:246141809-246141859	Jurkat	blood:	n/a
49	chr1:246139168-246139218	HMEC	breast:	n/a
50	chr1:246140350-246140400	GM19239	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:246114942..246117508-chr1:246123579..246126563,3	K562	blood:
2	chr1:246097362..246099359-chr1:246107720..246109478,2	K562	blood:
3	chr1:246131436..246134219-chr1:246149088..246150607,2	K562	blood:
4	chr1:246130619..246132818-chr1:246134043..246137611,3	K562	blood:
5	chr1:246136247..246139176-chr1:246140160..246143490,5	K562	blood:
6	chr1:246136247..246139176-chr1:246140160..246143490,5	K562	blood:
7	chr1:246109012..246112867-chr1:246113941..246115996,3	K562	blood:
8	chr1:246129359..246131604-chr1:246142419..246144141,2	K562	blood:
9	chr1:246115282..246117268-chr20:9203309..9206054,2	MCF-7	breast:
10	chr1:246126390..246128678-chr1:246132301..246134356,2	K562	blood:
11	chr1:246122598..246124565-chr1:246135159..246137741,2	K562	blood:
12	chr1:246140596..246144250-chr1:246144492..246152738,12	K562	blood:
13	chr1:246127855..246130595-chr1:246132443..246134267,2	K562	blood:
14	chr1:246134207..246135814-chr1:246149657..246151496,2	K562	blood:
15	chr1:246129149..246130792-chr1:246136104..246138621,2	K562	blood:
16	chr1:246125821..246128202-chr1:246128524..246131405,2	K562	blood:
17	chr1:246114942..246117508-chr1:246123579..246126563,3	K562	blood:
18	chr1:246109012..246112867-chr1:246113941..246115996,3	K562	blood:
19	chr1:246109012..246111892-chr1:246114019..246115996,2	K562	blood:
20	chr1:246140863..246143596-chr1:246281335..246283913,2	K562	blood:
21	chr1:246127855..246130595-chr1:246132443..246134267,2	K562	blood:
22	chr1:246126390..246128678-chr1:246132301..246134356,2	K562	blood:
23	chr1:246093581..246095497-chr1:246148758..246151121,2	K562	blood:
24	chr1:246118130..246122848-chr1:246123381..246128902,9	K562	blood:
25	chr1:245417790..245419955-chr1:246144288..246146281,2	K562	blood:
26	chr1:246135463..246139176-chr1:246139758..246143490,7	K562	blood:
27	chr1:246135463..246139176-chr1:246139758..246143490,7	K562	blood:
28	chr1:246129149..246130792-chr1:246136104..246138621,2	K562	blood:
29	chr1:246115508..246118574-chr1:246120452..246123477,3	K562	blood:
30	chr1:246122598..246124565-chr1:246135159..246137741,2	K562	blood:
31	chr1:246109012..246111892-chr1:246114019..246115996,2	K562	blood:
32	chr1:246125821..246128202-chr1:246128524..246131405,2	K562	blood:
33	chr1:246113571..246115154-chr1:246143779..246145681,2	K562	blood:
34	chr1:246113571..246115154-chr1:246143779..246145681,2	K562	blood:
35	chr1:246130619..246132818-chr1:246134043..246137611,3	K562	blood:
36	chr1:246142546..246145301-chr1:246200971..246203957,2	K562	blood:
37	chr1:246129359..246131604-chr1:246142419..246144141,2	K562	blood:
38	chr1:246103272..246104778-chr1:246108498..246111174,2	K562	blood:
39	chr1:246115508..246118574-chr1:246120452..246123477,3	K562	blood:

Variant related genes	Relation type
SMYD3	TF binding region
SMYD3	CpG island
ENSG00000185420	chromatin interactions

Extended variants
information (count: 1903 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:1903 , 50 per page) page: 1 2 3 4 5 6 7 ... 39

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10924396	chr1:246106084-246106085	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs575095720	chr1:246106121-246106122	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs540213264	chr1:246106155-246106156	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs528642360	chr1:246106175-246106176	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs76546418	chr1:246106184-246106185	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs147511163	chr1:246106228-246106229	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs180798925	chr1:246106257-246106258	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs546349776	chr1:246106274-246106275	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs562659089	chr1:246106327-246106328	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs74546886	chr1:246106338-246106339	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs532939107	chr1:246106390-246106391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs531500765	chr1:246106391-246106392	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs555397149	chr1:246106395-246106396	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs561918316	chr1:246106419-246106420	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs371248674	chr1:246106468-246106469	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs375662867	chr1:246106474-246106475	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs531525461	chr1:246106475-246106476	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs74163095	chr1:246106490-246106491	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs58081595	chr1:246106512-246106513	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs4564107	chr1:246106518-246106519	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs547103820	chr1:246106543-246106544	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs12742327	chr1:246106672-246106673	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs570472806	chr1:246106700-246106701	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs201250253	chr1:246106709-246106710	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs532864826	chr1:246106742-246106743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs549499559	chr1:246106781-246106782	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs186187435	chr1:246106826-246106827	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs563589997	chr1:246106848-246106849	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs538018925	chr1:246106892-246106893	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs554744134	chr1:246106901-246106902	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs72768775	chr1:246106919-246106920	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs534558237	chr1:246106928-246106929	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs553860877	chr1:246106939-246106940	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs577205211	chr1:246106944-246106945	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs548918046	chr1:246107031-246107032	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs191945478	chr1:246107140-246107141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs556667069	chr1:246107141-246107142	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs576615755	chr1:246107144-246107145	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs542005550	chr1:246107166-246107167	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs565701832	chr1:246107218-246107219	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs561958780	chr1:246107247-246107248	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs527587806	chr1:246107248-246107249	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs541345411	chr1:246107257-246107258	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs563909587	chr1:246107258-246107259	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs184224034	chr1:246107293-246107294	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs200804126	chr1:246107321-246107322	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs549385116	chr1:246107322-246107323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs201497102	chr1:246107332-246107333	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs569363639	chr1:246107339-246107340	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs528962796	chr1:246107407-246107408	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	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
Neuroblastoma	21899760	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	20729466	CNVD
Testicular germ cell tumor	18059402	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Basal cell lymphoma	17053054	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	21829676	CNVD
Multiple myeloma	16616336	CNVD
Ovarian cancer	21720365	CNVD
Glioblastoma multiforme	22291905	CNVD
Myelofibrosis	22110671	CNVD
Disease	21936942	CNVD
laryngomalacia	21936942	CNVD
GLUT3 deficiency syndrome	20509907	CNVD
Developmental delay	21373258	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Developmental delay	19490664	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Cutaneous malignant melanoma	18794153	CNVD
Astrocytoma	17934521	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Breast cancer	20409316	CNVD
Fibroblasts	17951408	CNVD
Lung cancer	17951408	CNVD
Autism	20841430	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Schizophrenia	20967226	CNVD

Chromatin state (count:552 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:246069000-246111400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:246092800-246116600	Weak transcription	Osteobl	bone
3	chr1:246095000-246113200	Weak transcription	K562	blood
4	chr1:246103800-246111400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:246103800-246115800	Weak transcription	Spleen	Spleen
6	chr1:246103800-246132600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr1:246105800-246107200	Enhancers	Primary T helper cells PMA-I stimulated	--
8	chr1:246106000-246106800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr1:246106000-246107200	Enhancers	Primary T helper cells fromperipheralblood	blood
10	chr1:246106000-246107200	Enhancers	Dnd41	blood
11	chr1:246106000-246107400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr1:246106200-246107200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr1:246106200-246107200	Enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr1:246106200-246107400	Enhancers	Primary T cells from cord blood	blood
15	chr1:246106600-246107200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr1:246106800-246107600	Enhancers	Primary T killer memory cells from peripheral blood	blood
17	chr1:246107800-246108200	Weak transcription	Primary T cells from cord blood	blood
18	chr1:246109000-246110200	Weak transcription	Right Atrium	heart
19	chr1:246109000-246116000	Weak transcription	Primary T cells from cord blood	blood
20	chr1:246109400-246112400	Enhancers	Fetal Stomach	stomach
21	chr1:246109600-246110200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr1:246109600-246110200	Enhancers	Fetal Lung	lung
23	chr1:246109600-246110200	Enhancers	Ovary	ovary
24	chr1:246109600-246111000	Enhancers	Fetal Kidney	kidney
25	chr1:246109800-246110200	Enhancers	Duodenum Smooth Muscle	Duodenum
26	chr1:246109800-246110200	Enhancers	Stomach Smooth Muscle	stomach
27	chr1:246109800-246110800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr1:246110000-246110600	Active TSS	Adipose Nuclei	Adipose
29	chr1:246110200-246110400	Flanking Active TSS	Stomach Smooth Muscle	stomach
30	chr1:246110200-246110600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
31	chr1:246110200-246110600	Flanking Active TSS	Ovary	ovary
32	chr1:246110200-246110600	Active TSS	Right Atrium	heart
33	chr1:246110200-246110800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr1:246110200-246110800	Active TSS	Duodenum Smooth Muscle	Duodenum
35	chr1:246110200-246110800	Flanking Active TSS	Fetal Lung	lung
36	chr1:246110200-246112000	Enhancers	Placenta	Placenta
37	chr1:246110400-246110600	Enhancers	Fetal Muscle Leg	muscle
38	chr1:246110400-246110800	Enhancers	NHLF	lung
39	chr1:246110400-246111400	Active TSS	Stomach Smooth Muscle	stomach
40	chr1:246110600-246110800	Enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr1:246110600-246110800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr1:246110600-246110800	Enhancers	NHDF-Ad	bronchial
43	chr1:246110600-246111000	Enhancers	Fetal Brain Male	brain
44	chr1:246110600-246114400	Weak transcription	Right Atrium	heart
45	chr1:246110600-246116600	Weak transcription	Adipose Nuclei	Adipose
46	chr1:246110800-246111600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr1:246110800-246113600	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr1:246110800-246116600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr1:246110800-246116800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr1:246110800-246117000	Weak transcription	NHDF-Ad	bronchial

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