Variant report

Variant	nsv873217
Chromosome Location	chr1:224089383-224190316
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	chr1:224124412-224124623	K562	blood:	n/a	n/a
2	ARID3A	chr1:224119208-224119671	K562	blood:	n/a	n/a
3	ARID3A	chr1:224180236-224180463	HepG2	liver:	n/a	n/a
4	ATF1	chr1:224180104-224180596	K562	blood:	n/a	n/a
5	ATF1	chr1:224119207-224119478	K562	blood:	n/a	n/a
6	ATF2	chr1:224180111-224180616	GM12878	blood:	n/a	chr1:224180344-224180355
7	ATF2	chr1:224180121-224180542	GM12878	blood:	n/a	chr1:224180344-224180355
8	ATF2	chr1:224180127-224180483	H1-hESC	embryonic stem cell:	n/a	chr1:224180344-224180355
9	ATF2	chr1:224180114-224180475	H1-hESC	embryonic stem cell:	n/a	chr1:224180344-224180355
10	ATF3	chr1:224180172-224180501	HepG2	liver:	n/a	chr1:224180346-224180356 chr1:224180334-224180354 chr1:224180359-224180379 chr1:224180342-224180355 chr1:224180344-224180355 chr1:224180346-224180356 chr1:224180344-224180355 chr1:224180343-224180356 chr1:224180346-224180354 chr1:224180345-224180353 chr1:224180346-224180353 chr1:224180293-224180306 chr1:224180342-224180357
11	ATF3	chr1:224180177-224180522	K562	blood:	n/a	chr1:224180346-224180356 chr1:224180334-224180354 chr1:224180359-224180379 chr1:224180342-224180355 chr1:224180344-224180355 chr1:224180346-224180356 chr1:224180344-224180355 chr1:224180343-224180356 chr1:224180346-224180354 chr1:224180345-224180353 chr1:224180346-224180353 chr1:224180293-224180306 chr1:224180342-224180357
12	ATF3	chr1:224180121-224180536	GM12878	blood:	n/a	chr1:224180346-224180356 chr1:224180334-224180354 chr1:224180359-224180379 chr1:224180342-224180355 chr1:224180344-224180355 chr1:224180346-224180356 chr1:224180344-224180355 chr1:224180343-224180356 chr1:224180346-224180354 chr1:224180345-224180353 chr1:224180346-224180353 chr1:224180293-224180306 chr1:224180342-224180357
13	ATF3	chr1:224180201-224180512	H1-hESC	embryonic stem cell:	n/a	chr1:224180346-224180356 chr1:224180334-224180354 chr1:224180359-224180379 chr1:224180342-224180355 chr1:224180344-224180355 chr1:224180346-224180356 chr1:224180344-224180355 chr1:224180343-224180356 chr1:224180346-224180354 chr1:224180345-224180353 chr1:224180346-224180353 chr1:224180293-224180306 chr1:224180342-224180357
14	ATF3	chr1:224180187-224180478	K562	blood:	n/a	chr1:224180346-224180356 chr1:224180334-224180354 chr1:224180359-224180379 chr1:224180342-224180355 chr1:224180344-224180355 chr1:224180346-224180356 chr1:224180344-224180355 chr1:224180343-224180356 chr1:224180346-224180354 chr1:224180345-224180353 chr1:224180346-224180353 chr1:224180293-224180306 chr1:224180342-224180357
15	ATF3	chr1:224180214-224180405	GM12878	blood:	n/a	chr1:224180346-224180356 chr1:224180334-224180354 chr1:224180359-224180379 chr1:224180342-224180355 chr1:224180344-224180355 chr1:224180346-224180356 chr1:224180344-224180355 chr1:224180343-224180356 chr1:224180346-224180354 chr1:224180345-224180353 chr1:224180346-224180353 chr1:224180293-224180306 chr1:224180342-224180357
16	ATF3	chr1:224180154-224180502	K562	blood:	n/a	chr1:224180346-224180356 chr1:224180334-224180354 chr1:224180359-224180379 chr1:224180342-224180355 chr1:224180344-224180355 chr1:224180346-224180356 chr1:224180344-224180355 chr1:224180343-224180356 chr1:224180346-224180354 chr1:224180345-224180353 chr1:224180346-224180353 chr1:224180293-224180306 chr1:224180342-224180357
17	ATF3	chr1:224180142-224180506	H1-hESC	embryonic stem cell:	n/a	chr1:224180346-224180356 chr1:224180334-224180354 chr1:224180359-224180379 chr1:224180342-224180355 chr1:224180344-224180355 chr1:224180346-224180356 chr1:224180344-224180355 chr1:224180343-224180356 chr1:224180346-224180354 chr1:224180345-224180353 chr1:224180346-224180353 chr1:224180293-224180306 chr1:224180342-224180357
18	BACH1	chr1:224180388-224180426	H1-hESC	embryonic stem cell:	n/a	n/a
19	BATF	chr1:224092998-224093284	GM12878	blood:	n/a	n/a
20	BATF	chr1:224100132-224100691	GM12878	blood:	n/a	chr1:224100431-224100442
21	BATF	chr1:224182430-224182667	GM12878	blood:	n/a	n/a
22	BATF	chr1:224182397-224182686	GM12878	blood:	n/a	n/a
23	BATF	chr1:224108555-224108855	GM12878	blood:	n/a	chr1:224108835-224108844
24	BATF	chr1:224144651-224145050	GM12878	blood:	n/a	n/a
25	BATF	chr1:224179785-224180831	GM12878	blood:	n/a	n/a
26	BATF	chr1:224108598-224108877	GM12878	blood:	n/a	chr1:224108835-224108844
27	BATF	chr1:224100112-224100738	GM12878	blood:	n/a	chr1:224100431-224100442
28	BATF	chr1:224103998-224104234	GM12878	blood:	n/a	n/a
29	BATF	chr1:224104058-224104261	GM12878	blood:	n/a	n/a
30	BATF	chr1:224095793-224096047	GM12878	blood:	n/a	n/a
31	BCL11A	chr1:224180490-224180840	GM12878	blood:	n/a	chr1:224180534-224180543 chr1:224180711-224180724 chr1:224180714-224180727
32	BCL11A	chr1:224095758-224096028	GM12878	blood:	n/a	n/a
33	BCL11A	chr1:224108051-224108199	GM12878	blood:	n/a	n/a
34	BCL11A	chr1:224111240-224111434	GM12878	blood:	n/a	n/a
35	BCL11A	chr1:224090921-224091109	GM12878	blood:	n/a	chr1:224091090-224091098
36	BCL11A	chr1:224093639-224093850	GM12878	blood:	n/a	n/a
37	BCL11A	chr1:224095804-224096023	GM12878	blood:	n/a	n/a
38	BCL11A	chr1:224094248-224094435	GM12878	blood:	n/a	n/a
39	BCL11A	chr1:224100059-224100720	GM12878	blood:	n/a	chr1:224100434-224100443
40	BCL11A	chr1:224179744-224180938	GM12878	blood:	n/a	chr1:224180534-224180543 chr1:224180711-224180724 chr1:224180714-224180727
41	BCL11A	chr1:224091435-224091635	GM12878	blood:	n/a	chr1:224091454-224091463
42	BCL11A	chr1:224103937-224104270	GM12878	blood:	n/a	chr1:224104160-224104168
43	BCL11A	chr1:224179801-224179949	GM12878	blood:	n/a	n/a
44	BCL11A	chr1:224100121-224100579	GM12878	blood:	n/a	chr1:224100434-224100443
45	BCLAF1	chr1:224180115-224180562	GM12878	blood:	n/a	chr1:224180534-224180543
46	BHLHE40	chr1:224110721-224110974	HepG2	liver:	n/a	n/a
47	BHLHE40	chr1:224180228-224180289	GM12878	blood:	n/a	n/a
48	BHLHE40	chr1:224112070-224112315	HepG2	liver:	n/a	n/a
49	BHLHE40	chr1:224180242-224180429	K562	blood:	n/a	n/a
50	BHLHE40	chr1:224108563-224108836	HepG2	liver:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:224180516-224180566	Hela-S3	cervix:	n/a
2	chr1:224179665-224179715	SK-N-MC	brain:	n/a
3	chr1:224133090-224133140	HAEpiC	amniotic membrane:	n/a
4	chr1:224180302-224180352	H1-hESC	embryonic stem cell:	embryo
5	chr1:224179665-224179715	PFSK-1	brain:	n/a
6	chr1:224179665-224179715	MCF10A-Er-Src	breast:	n/a
7	chr1:224180302-224180352	Caco-2	colon:	n/a
8	chr1:224180288-224180338	HIPEpiC	eye:	n/a
9	chr1:224179665-224179715	NT2-D1	testis:	n/a
10	chr1:224180288-224180338	AG04450	lung:	fetal
11	chr1:224136349-224136399	H1-hESC	embryonic stem cell:	embryo
12	chr1:224179665-224179715	MCF-7	breast:	n/a
13	chr1:224136349-224136399	K562	blood:	n/a
14	chr1:224180288-224180338	PFSK-1	brain:	n/a
15	chr1:224179665-224179715	AG04450	lung:	fetal
16	chr1:224133090-224133140	HRE	kidney:	n/a
17	chr1:224180302-224180352	T-47D	breast:	n/a
18	chr1:224179665-224179715	U87	brain:	n/a
19	chr1:224180288-224180338	HPAEpiC	pulmonary alveolar:	n/a
20	chr1:224179665-224179715	AG09309	skin:	n/a
21	chr1:224180302-224180352	RPTEC	kidney:	n/a
22	chr1:224180288-224180338	BJ	skin:	n/a
23	chr1:224177126-224177176	GM12892	blood:	n/a
24	chr1:224180444-224180494	GM12891	blood:	n/a
25	chr1:224179665-224179715	GM19239	blood:	n/a
26	chr1:224179665-224179715	T-47D	breast:	n/a
27	chr1:224179665-224179715	HL-60	blood:	n/a
28	chr1:224180516-224180566	CMK	blood:	n/a
29	chr1:224180516-224180566	HRPEpiC	eye:	n/a
30	chr1:224180288-224180338	BE2_C	brain:	n/a
31	chr1:224136349-224136399	HCPEpiC	choroid plexus:	n/a
32	chr1:224180302-224180352	AG09319	gingival:	n/a
33	chr1:224177126-224177176	HEEpiC	esophagus:	n/a
34	chr1:224136349-224136399	A549	lung:	n/a
35	chr1:224180516-224180566	Caco-2	colon:	n/a
36	chr1:224180288-224180338	AG09309	skin:	n/a
37	chr1:224180288-224180338	HCT-116	colon:	n/a
38	chr1:224180288-224180338	AG09319	gingival:	n/a
39	chr1:224179665-224179715	GM12891	blood:	n/a
40	chr1:224179665-224179715	HepG2	liver:	n/a
41	chr1:224177126-224177176	GM12891	blood:	n/a
42	chr1:224177126-224177176	NB4	blood:	n/a
43	chr1:224179665-224179715	HAEpiC	amniotic membrane:	n/a
44	chr1:224180302-224180352	AG04450	lung:	fetal
45	chr1:224177126-224177176	ECC-1	luminal epithelium:	n/a
46	chr1:224133090-224133140	A549	lung:	n/a
47	chr1:224179665-224179715	ProgFib	skin:	n/a
48	chr1:224136349-224136399	Caco-2	colon:	n/a
49	chr1:224180444-224180494	Caco-2	colon:	n/a
50	chr1:224180288-224180338	H1-hESC	embryonic stem cell:	embryo

No.	Distal block	Cell Line	Cell type
1	chr1:224178905..224181889-chr1:224301318..224303879,2	MCF-7	breast:
2	chr1:224178733..224180652-chr1:224310129..224312087,2	K562	blood:
3	chr1:223887763..223889342-chr1:224178879..224180474,2	K562	blood:
4	chr1:224030638..224033175-chr1:224122761..224125405,2	K562	blood:
5	chr1:223900030..223900536-chr1:224108678..224109196,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TP53BP2-6	chr1:224175747-224175856	NONHSAT009756
2	lnc-TP53BP2-6	chr1:224170584-224170818	NONHSAT009757
3	lnc-FBXO28-1	chr1:224189609-224191356	NONHSAT009763
4	lnc-TP53BP2-4	chr1:224149779-224150142	NONHSAT009753
5	lnc-TP53BP2-6	chr1:224174277-224174342	NONHSAT009756
6	lnc-PARP1-3	chr1:224098433-224099085	expRegAs_chr1_21128_-
7	lnc-FBXO28-1	chr1:224180714-224180749	NONHSAT009760
8	lnc-TP53BP2-4	chr1:224148701-224148934	NONHSAT009753
9	lnc-TP53BP2-6	chr1:224172084-224172141	NONHSAT009757
10	lnc-TP53BP2-4	chr1:224150312-224150411	NONHSAT009754
11	lnc-FBXO28-1	chr1:224183659-224183796	ENSG00000185495.6
12	lnc-PARP1-4	chr1:224096672-224097019	expRegAs_chr1_21127_-
13	lnc-TP53BP2-1	chr1:224151308-224152241	XLOC_001223
14	lnc-FBXO28-1	chr1:224190224-224190324	NONHSAT009761
15	lnc-TP53BP2-6	chr1:224170898-224170987	NONHSAT009757
16	lnc-TP53BP2-3	chr1:224139722-224139941	NONHSAT009752
17	lnc-FBXO28-1	chr1:224190017-224190324	NONHSAT009760
18	lnc-TP53BP2-4	chr1:224149779-224150042	NONHSAT009754
19	lnc-TP53BP2-6	chr1:224170456-224170544	NONHSAT009756
20	lnc-FBXO28-1	chr1:224190224-224190324	ENSG00000185495.6
21	lnc-TP53BP2-6	chr1:224170893-224170987	NONHSAT009756
22	lnc-TP53BP2-1	chr1:224159276-224159470	XLOC_001223
23	lnc-FBXO28-1	chr1:224183597-224183703	NONHSAT009761

Variant related genes	Relation type
ENSG00000232372	TF binding region
ENSG00000243000	TF binding region
ENSG00000185495	TF binding region
ENSG00000272645	TF binding region
CICP5	TF binding region
RNU6-1319P	TF binding region
ENSG00000232372	CpG island
ENSG00000243000	CpG island
ENSG00000185495	CpG island
ENSG00000272645	CpG island
CICP5	CpG island
RNU6-1319P	CpG island
ENSG00000162909	chromatin interactions
ENSG00000143756	chromatin interactions
WNT5B	miRNA target sites
AHCYL2	miRNA target sites

Extended variants
information (count: 1936 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:1936 , 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	rs563465376	chr1:224094404-224094405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs530941944	chr1:224094414-224094415	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs552526363	chr1:224094421-224094422	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs570796516	chr1:224094422-224094423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs532431596	chr1:224094438-224094439	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs9726309	chr1:224094442-224094443	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs538472229	chr1:224094459-224094460	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs10915981	chr1:224094463-224094464	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs202009909	chr1:224094475-224094476	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs10915982	chr1:224094495-224094496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs547377940	chr1:224094525-224094526	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs565838545	chr1:224094594-224094595	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs536464263	chr1:224094631-224094632	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs554676141	chr1:224094647-224094648	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs569753539	chr1:224094663-224094664	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs371647758	chr1:224094667-224094668	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs536787843	chr1:224094741-224094742	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs558522411	chr1:224094805-224094806	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs576767147	chr1:224094807-224094808	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs541672587	chr1:224094888-224094889	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs553408241	chr1:224094937-224094938	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs375975186	chr1:224094944-224094945	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs574666610	chr1:224094984-224094985	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs542000206	chr1:224095022-224095023	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs139064044	chr1:224095023-224095024	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs17319038	chr1:224095033-224095034	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs546025573	chr1:224095096-224095097	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs564456598	chr1:224095171-224095172	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs528485681	chr1:224095176-224095177	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs4092529	chr1:224095247-224095248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs547634156	chr1:224095260-224095261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs200165286	chr1:224095268-224095269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs140469733	chr1:224095287-224095288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs9287000	chr1:224095387-224095388	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs181669602	chr1:224095433-224095434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs375276037	chr1:224095441-224095442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs144435320	chr1:224095462-224095463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs537104784	chr1:224095488-224095489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs202051933	chr1:224095497-224095498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs560480538	chr1:224095534-224095535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs369593547	chr1:224095555-224095556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs373025379	chr1:224095556-224095557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs141404880	chr1:224095665-224095666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs570395480	chr1:224095676-224095677	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs534345855	chr1:224095683-224095684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs552580918	chr1:224095708-224095709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs80277718	chr1:224095728-224095729	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs3991825	chr1:224095772-224095773	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs3991826	chr1:224095783-224095784	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs3991827	chr1:224095796-224095797	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

Disease	PMID	Source
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
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
Breast cancer	17603634	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
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Congenital diaphragmatic hernia	21085971	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
Autism	14699429	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	20808228	CNVD
Fumarase deficiency	21572526	CNVD
Autism	17483303	CNVD
Kartagener syndrome	16639409	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Leukoplakia	24403051	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Glioblastoma multiforme	21138945	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Breast cancer	22522925	CNVD
Cancer	17060936	CNVD
Ewing''s sarcoma	19144156	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:497 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224094400-224094600	Enhancers	Fetal Thymus	thymus
2	chr1:224094400-224095200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:224094600-224095600	Weak transcription	Fetal Thymus	thymus
4	chr1:224095600-224096200	Enhancers	Fetal Thymus	thymus
5	chr1:224096000-224096200	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr1:224096200-224097400	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr1:224097400-224099600	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr1:224097800-224099000	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr1:224099000-224100600	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr1:224099600-224101600	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr1:224100600-224102000	Enhancers	Primary neutrophils fromperipheralblood	blood
12	chr1:224101600-224102000	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr1:224119200-224119600	Enhancers	K562	blood
14	chr1:224135800-224149800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr1:224136200-224139400	Weak transcription	Fetal Intestine Small	intestine
16	chr1:224136400-224179800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr1:224136600-224149200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr1:224137200-224138600	Weak transcription	Fetal Stomach	stomach
19	chr1:224137600-224139200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr1:224137800-224139400	Weak transcription	Adipose Nuclei	Adipose
21	chr1:224137800-224139400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr1:224137800-224139400	Weak transcription	Fetal Muscle Trunk	muscle
23	chr1:224137800-224139400	Weak transcription	Placenta	Placenta
24	chr1:224137800-224139400	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr1:224137800-224139400	Weak transcription	Spleen	Spleen
26	chr1:224137800-224160600	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr1:224138000-224139400	Weak transcription	Lung	lung
28	chr1:224138000-224139600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr1:224138000-224139600	Weak transcription	Ovary	ovary
30	chr1:224138000-224140000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr1:224138000-224141000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr1:224138000-224148200	Weak transcription	Liver	Liver
33	chr1:224138000-224162800	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr1:224138000-224163800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr1:224138000-224170000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr1:224138000-224179600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr1:224138200-224149800	Weak transcription	Right Ventricle	heart
38	chr1:224138200-224150400	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr1:224138200-224179200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr1:224138200-224179600	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr1:224138200-224179600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr1:224138400-224140800	Weak transcription	Primary neutrophils fromperipheralblood	blood
43	chr1:224138400-224140800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr1:224138400-224149600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr1:224138400-224179600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr1:224138400-224179800	Weak transcription	Duodenum Mucosa	Duodenum
47	chr1:224138600-224141000	Strong transcription	Fetal Stomach	stomach
48	chr1:224138600-224141200	Weak transcription	Gastric	stomach
49	chr1:224138600-224179600	Weak transcription	Fetal Muscle Leg	muscle
50	chr1:224138800-224140000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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