Variant report

Variant	nsv1001290
Chromosome Location	chr1:245966190-246018587
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	chr1:245974281-245974791	HepG2	liver:	n/a	n/a
2	ATF2	chr1:245970578-245971090	GM12878	blood:	n/a	n/a
3	BATF	chr1:245970698-245971080	GM12878	blood:	n/a	n/a
4	BATF	chr1:245970613-245971062	GM12878	blood:	n/a	n/a
5	BATF	chr1:245992604-245992863	GM12878	blood:	n/a	n/a
6	BATF	chr1:245970166-245970477	GM12878	blood:	n/a	chr1:245970299-245970309 chr1:245970298-245970309
7	BCL3	chr1:245977976-245978280	GM12878	blood:	n/a	n/a
8	BCL3	chr1:245986431-245986771	GM12878	blood:	n/a	n/a
9	BCL3	chr1:245977976-245978245	GM12878	blood:	n/a	n/a
10	BCLAF1	chr1:245970618-245971063	GM12878	blood:	n/a	chr1:245970740-245970749
11	BCLAF1	chr1:245970574-245971083	GM12878	blood:	n/a	chr1:245970740-245970749
12	BHLHE40	chr1:245974284-245974638	HepG2	liver:	n/a	n/a
13	BHLHE40	chr1:245970679-245971204	GM12878	blood:	n/a	n/a
14	BHLHE40	chr1:245986393-245986667	A549	lung:	n/a	n/a
15	BHLHE40	chr1:245986428-245986758	HepG2	liver:	n/a	n/a
16	BHLHE40	chr1:245970301-245970532	K562	blood:	n/a	n/a
17	CBX3	chr1:245970180-245970545	K562	blood:	n/a	n/a
18	CEBPB	chr1:245986352-245986792	A549	lung:	n/a	chr1:245986540-245986551 chr1:245986538-245986549 chr1:245986540-245986551 chr1:245986538-245986551
19	CEBPB	chr1:245974306-245974648	HepG2	liver:	n/a	n/a
20	CEBPB	chr1:245986958-245987061	HepG2	liver:	n/a	n/a
21	CEBPB	chr1:245986344-245986737	A549	lung:	n/a	chr1:245986540-245986551 chr1:245986538-245986549 chr1:245986540-245986551 chr1:245986538-245986551
22	CEBPB	chr1:245974285-245974663	HepG2	liver:	n/a	n/a
23	CEBPB	chr1:245986442-245986595	K562	blood:	n/a	chr1:245986540-245986551 chr1:245986538-245986549 chr1:245986540-245986551 chr1:245986538-245986551
24	CEBPB	chr1:246005255-246005575	HepG2	liver:	n/a	chr1:246005396-246005407
25	CEBPB	chr1:245986358-245986775	MCF-7	breast:	n/a	chr1:245986540-245986551 chr1:245986538-245986549 chr1:245986540-245986551 chr1:245986538-245986551
26	CEBPB	chr1:246007397-246007575	HepG2	liver:	n/a	chr1:246007498-246007509
27	CEBPB	chr1:245986261-245986788	ECC-1	luminal epithelium:	n/a	chr1:245986540-245986551 chr1:245986538-245986549 chr1:245986540-245986551 chr1:245986538-245986551
28	CEBPB	chr1:245986465-245986593	HepG2	liver:	n/a	chr1:245986540-245986551 chr1:245986538-245986549 chr1:245986540-245986551 chr1:245986538-245986551
29	CEBPB	chr1:245986189-245986747	Hela-S3	cervix:	n/a	chr1:245986540-245986551 chr1:245986538-245986549 chr1:245986540-245986551 chr1:245986538-245986551
30	CEBPB	chr1:245986224-245986759	HCT-116	colon:	n/a	chr1:245986540-245986551 chr1:245986538-245986549 chr1:245986540-245986551 chr1:245986538-245986551
31	CEBPB	chr1:245970266-245970538	K562	blood:	n/a	n/a
32	CEBPB	chr1:245986202-245986790	HCT-116	colon:	n/a	chr1:245986540-245986551 chr1:245986538-245986549 chr1:245986540-245986551 chr1:245986538-245986551
33	CEBPB	chr1:246005278-246005544	IMR90	lung:	n/a	chr1:246005396-246005407
34	CEBPB	chr1:245986260-245986954	A549	lung:	n/a	chr1:245986540-245986551 chr1:245986538-245986549 chr1:245986855-245986867 chr1:245986540-245986551 chr1:245986857-245986868 chr1:245986538-245986551
35	CEBPB	chr1:246005252-246005546	A549	lung:	n/a	chr1:246005396-246005407
36	CEBPB	chr1:246007442-246007594	IMR90	lung:	n/a	chr1:246007498-246007509
37	CEBPB	chr1:245986262-245987157	IMR90	lung:	n/a	chr1:245986540-245986551 chr1:245986538-245986549 chr1:245986855-245986867 chr1:245986540-245986551 chr1:245986857-245986868 chr1:245986538-245986551
38	CEBPB	chr1:245986352-245986718	HepG2	liver:	n/a	chr1:245986540-245986551 chr1:245986538-245986549 chr1:245986540-245986551 chr1:245986538-245986551
39	CEBPB	chr1:245968485-245968683	HepG2	liver:	n/a	chr1:245968630-245968641 chr1:245968534-245968545
40	CEBPB	chr1:245970229-245970472	K562	blood:	n/a	n/a
41	CEBPB	chr1:245974350-245974567	HepG2	liver:	n/a	n/a
42	CEBPB	chr1:245986317-245986701	ECC-1	luminal epithelium:	n/a	chr1:245986540-245986551 chr1:245986538-245986549 chr1:245986540-245986551 chr1:245986538-245986551
43	CEBPZ	chr1:246003835-246003916	HepG2	liver:	n/a	n/a
44	CHD2	chr1:245986326-245986722	Hela-S3	cervix:	n/a	n/a
45	CHD2	chr1:245970342-245971030	GM12878	blood:	n/a	n/a
46	CHD2	chr1:245973609-245974590	GM12878	blood:	n/a	n/a
47	CTCF	chr1:245988520-245988670	WERI-Rb-1	eye:	n/a	chr1:245988600-245988621
48	CTCF	chr1:245988520-245988670	SK-N-SH_RA	brain:	n/a	chr1:245988600-245988621
49	CTCF	chr1:245988540-245988690	HRPEpiC	eye:	n/a	chr1:245988600-245988621
50	CTCF	chr1:245988500-245988650	AG09319	gingival:	n/a	chr1:245988600-245988621

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:246016737-246016787	HepG2	liver:	n/a
2	chr1:245986694-245986744	Hela-S3	cervix:	n/a
3	chr1:246016737-246016787	Hela-S3	cervix:	n/a
4	chr1:245986694-245986744	H1-hESC	embryonic stem cell:	embryo
5	chr1:246016737-246016787	HAEpiC	amniotic membrane:	n/a
6	chr1:245986694-245986744	NB4	blood:	n/a
7	chr1:245986694-245986744	HIPEpiC	eye:	n/a
8	chr1:246016737-246016787	HMEC	breast:	n/a
9	chr1:246016737-246016787	Hepatocyte	liver:	n/a
10	chr1:245986694-245986744	HUVEC	blood vessel:	n/a
11	chr1:246016737-246016787	PrEC	prostate:	n/a
12	chr1:245986694-245986744	PANC-1	pancreas:	n/a
13	chr1:245986694-245986744	GM19239	blood:	n/a
14	chr1:245986694-245986744	GM12878	blood:	n/a
15	chr1:246016737-246016787	AG04449	skin:	fetal
16	chr1:246016737-246016787	A549	lung:	n/a
17	chr1:245986694-245986744	CMK	blood:	n/a
18	chr1:246016737-246016787	HIPEpiC	eye:	n/a
19	chr1:246016737-246016787	AG10803	skin:	n/a
20	chr1:246016737-246016787	T-47D	breast:	n/a
21	chr1:246016737-246016787	AoSMC	blood vessel:	n/a
22	chr1:246016737-246016787	SK-N-MC	brain:	n/a
23	chr1:245986694-245986744	HCM	heart:	n/a
24	chr1:246016737-246016787	HPAEpiC	pulmonary alveolar:	n/a
25	chr1:246016737-246016787	SKMC	muscle:	n/a
26	chr1:245986694-245986744	Jurkat	blood:	n/a
27	chr1:245986694-245986744	ProgFib	skin:	n/a
28	chr1:245986694-245986744	NT2-D1	testis:	n/a
29	chr1:246016737-246016787	AG09309	skin:	n/a
30	chr1:246016737-246016787	HRE	kidney:	n/a
31	chr1:246016737-246016787	SAEC	small airway:	n/a
32	chr1:246016737-246016787	NH-A	brain:	n/a
33	chr1:245986694-245986744	SK-N-MC	brain:	n/a
34	chr1:246016737-246016787	HRCEpiC	kidney:	n/a
35	chr1:245986694-245986744	A549	lung:	n/a
36	chr1:246016737-246016787	Caco-2	colon:	n/a
37	chr1:246016737-246016787	ECC-1	luminal epithelium:	n/a
38	chr1:245986694-245986744	Caco-2	colon:	n/a
39	chr1:245986694-245986744	ovcar-3	ovarian:	n/a
40	chr1:246016737-246016787	SK-N-SH_RA	brain:	n/a
41	chr1:246016737-246016787	NT2-D1	testis:	n/a
42	chr1:246016737-246016787	MCF-7	breast:	n/a
43	chr1:245986694-245986744	BE2_C	brain:	n/a
44	chr1:246016737-246016787	ovcar-3	ovarian:	n/a
45	chr1:246016737-246016787	H1-hESC	embryonic stem cell:	embryo
46	chr1:245986694-245986744	HAEpiC	amniotic membrane:	n/a
47	chr1:245986694-245986744	GM12891	blood:	n/a
48	chr1:245986694-245986744	HNPCEpiC	eye:	n/a
49	chr1:245986694-245986744	AG04450	lung:	fetal
50	chr1:245986694-245986744	K562	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:245992708..245995322-chr1:245995815..245998261,2	MCF-7	breast:
2	chr1:245988107..245989157-chr1:246166116..246167095,4	MCF-7	breast:
3	chr1:246009761..246012362-chr1:246018454..246021250,2	MCF-7	breast:
4	chr1:245961566..245963141-chr1:245966435..245969195,2	K562	blood:
5	chr1:246010644..246013131-chr1:246014185..246016715,2	K562	blood:
6	chr1:245990424..245993130-chr1:245997330..245999574,3	K562	blood:
7	chr1:246009761..246012362-chr1:246018454..246021250,2	MCF-7	breast:
8	chr1:246011854..246014618-chr1:246024554..246026725,2	K562	blood:
9	chr1:246009381..246012299-chr1:246014138..246015859,2	MCF-7	breast:
10	chr1:245978284..245980210-chr1:245986167..245988754,2	K562	blood:
11	chr1:245965294..245968068-chr1:245973609..245975680,2	K562	blood:
12	chr1:245958486..245963819-chr1:245964384..245971753,7	K562	blood:
13	chr1:245990424..245993130-chr1:245997330..245999574,3	K562	blood:
14	chr1:245967776..245970325-chr1:245971274..245973112,2	K562	blood:
15	chr1:245965294..245968068-chr1:245973609..245975680,2	K562	blood:
16	chr1:245912433..245914133-chr1:246013964..246015796,2	K562	blood:
17	chr1:246010644..246013131-chr1:246014185..246016715,2	K562	blood:
18	chr1:245988915..245992283-chr1:245996613..246000747,4	K562	blood:
19	chr1:246009381..246012299-chr1:246014138..246015859,2	MCF-7	breast:
20	chr1:245988915..245992283-chr1:245996613..246000747,4	K562	blood:
21	chr1:245978284..245980210-chr1:245986167..245988754,2	K562	blood:
22	chr1:246004025..246006674-chr1:246026244..246028356,2	K562	blood:
23	chr1:246014320..246017161-chr1:246018009..246019669,2	K562	blood:
24	chr1:245988141..245989007-chr1:246166156..246166781,3	MCF-7	breast:
25	chr1:245967776..245970325-chr1:245971274..245973112,2	K562	blood:
26	chr1:246004939..246007582-chr1:246008449..246010264,2	K562	blood:
27	chr1:246000797..246002890-chr1:246020641..246022922,2	K562	blood:
28	chr1:245999406..246001489-chr1:246004038..246006182,2	K562	blood:
29	chr1:246014320..246017161-chr1:246018009..246019669,2	K562	blood:
30	chr1:245999406..246001489-chr1:246004038..246006182,2	K562	blood:
31	chr1:245992708..245995322-chr1:245995815..245998261,2	MCF-7	breast:
32	chr1:246015163..246018101-chr1:246022142..246024393,2	K562	blood:
33	chr1:246004939..246007582-chr1:246008449..246010264,2	K562	blood:
34	chr1:246000997..246002904-chr1:246031374..246033364,2	K562	blood:

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

Extended variants
information (count: 2432 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:2432 , 50 per page) page: 1 2 3 4 5 6 7 ... 49

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535288858	chr1:245966214-245966215	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs555566577	chr1:245966235-245966236	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs2791399	chr1:245966242-245966243	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs2817522	chr1:245966297-245966298	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs557760835	chr1:245966303-245966304	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs577717618	chr1:245966310-245966311	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs543505129	chr1:245966346-245966347	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs563230389	chr1:245966389-245966390	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs573705004	chr1:245966415-245966416	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs542040430	chr1:245966435-245966436	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs562321561	chr1:245966443-245966444	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs192878266	chr1:245966450-245966451	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs547687464	chr1:245966451-245966452	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs564098329	chr1:245966457-245966458	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs533145741	chr1:245966468-245966469	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs549810674	chr1:245966475-245966476	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs564277292	chr1:245966490-245966491	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs184882817	chr1:245966523-245966524	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs535979593	chr1:245966566-245966567	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs532501465	chr1:245966656-245966657	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs571373040	chr1:245966706-245966707	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs548871699	chr1:245966713-245966714	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs565890174	chr1:245966715-245966716	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs369044620	chr1:245966726-245966727	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs2791400	chr1:245966754-245966755	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs199571914	chr1:245966767-245966768	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs376876966	chr1:245966780-245966781	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs578030508	chr1:245966794-245966795	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs567538454	chr1:245966836-245966837	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs376392509	chr1:245966846-245966847	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs562961393	chr1:245966899-245966900	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs573618316	chr1:245966900-245966901	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs530161279	chr1:245966932-245966933	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs142578764	chr1:245966968-245966969	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs542726123	chr1:245967052-245967053	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs150213825	chr1:245967072-245967073	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs567885888	chr1:245967156-245967157	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs572313533	chr1:245967170-245967171	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs369100302	chr1:245967191-245967192	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs113160663	chr1:245967205-245967206	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs542710254	chr1:245967215-245967216	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs200165039	chr1:245967216-245967217	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs75397208	chr1:245967217-245967218	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs72766643	chr1:245967218-245967219	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs548578742	chr1:245967255-245967256	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs564437534	chr1:245967284-245967285	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs533473747	chr1:245967290-245967291	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs536942456	chr1:245967297-245967298	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs543397223	chr1:245967301-245967302	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs138842983	chr1:245967302-245967303	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:512 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:245932000-245966200	Weak transcription	Primary T cells from cord blood	blood
2	chr1:245949200-245999600	Weak transcription	Gastric	stomach
3	chr1:245952000-245970400	Weak transcription	Aorta	Aorta
4	chr1:245955200-245970800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr1:245957000-245970400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr1:245961400-245968000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr1:245961800-245980000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr1:245962000-245972600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr1:245962600-245970400	Weak transcription	HepG2	liver
10	chr1:245963400-245970400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr1:245964600-245968400	Enhancers	Placenta	Placenta
12	chr1:245964600-245971200	Weak transcription	Fetal Heart	heart
13	chr1:245964800-245970400	Weak transcription	NH-A	brain
14	chr1:245964800-245973800	Weak transcription	Fetal Stomach	stomach
15	chr1:245965200-245966800	Strong transcription	K562	blood
16	chr1:245965200-245967400	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr1:245965600-245967000	Enhancers	Placenta Amnion	Placenta Amnion
18	chr1:245965600-245968000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr1:245966000-245966800	Enhancers	HSMM	muscle
20	chr1:245966800-245970400	Weak transcription	K562	blood
21	chr1:245968000-245968200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr1:245968000-245968400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr1:245968000-245970400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr1:245968200-245972600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr1:245968400-245975200	Weak transcription	Placenta	Placenta
26	chr1:245968400-245985800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr1:245968600-245969600	Enhancers	Pancreatic Islets	Pancreatic Islet
28	chr1:245968800-245969000	Enhancers	Fetal Brain Female	brain
29	chr1:245969600-245970400	Enhancers	GM12878-XiMat	blood
30	chr1:245969600-245974000	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr1:245969600-245975800	Enhancers	Primary B cells from peripheral blood	blood
32	chr1:245969800-245970600	Enhancers	Colonic Mucosa	Colon
33	chr1:245969800-245970600	Weak transcription	Fetal Brain Female	brain
34	chr1:245969800-245972600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr1:245970200-245970800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr1:245970200-245970800	Enhancers	NHDF-Ad	bronchial
37	chr1:245970200-245972000	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr1:245970200-245974200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
39	chr1:245970200-245974400	Enhancers	Primary B cells from cord blood	blood
40	chr1:245970400-245970600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr1:245970400-245970600	ZNF genes & repeats	Aorta	Aorta
42	chr1:245970400-245970600	Enhancers	Duodenum Mucosa	Duodenum
43	chr1:245970400-245970600	Enhancers	Fetal Muscle Trunk	muscle
44	chr1:245970400-245970600	Enhancers	Fetal Muscle Leg	muscle
45	chr1:245970400-245970800	Enhancers	Primary monocytes fromperipheralblood	blood
46	chr1:245970400-245970800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr1:245970400-245970800	Enhancers	Ovary	ovary
48	chr1:245970400-245970800	Enhancers	Stomach Mucosa	stomach
49	chr1:245970400-245970800	Enhancers	Spleen	Spleen
50	chr1:245970400-245971000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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