Variant report

Variant	nsv533460
Chromosome Location	chr1:194779033-195627237
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3045)
CpG islands
(count:183)
Chromatin interactive
region (count:139)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3045 , 50 per page) page: 1 2 3 4 5 6 7 ... 61

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:194823663-194823984	K562	blood:	n/a	n/a
2	ARID3A	chr1:194828790-194829121	K562	blood:	n/a	n/a
3	ARID3A	chr1:194819794-194819886	K562	blood:	n/a	n/a
4	ARID3A	chr1:194829614-194830491	K562	blood:	n/a	n/a
5	ARID3A	chr1:194831433-194831595	K562	blood:	n/a	n/a
6	ARID3A	chr1:194839283-194839285	K562	blood:	n/a	n/a
7	ARID3A	chr1:194842516-194842831	K562	blood:	n/a	n/a
8	ARID3A	chr1:195198697-195198705	K562	blood:	n/a	n/a
9	ATF1	chr1:194841972-194841974	K562	blood:	n/a	n/a
10	ATF1	chr1:195481412-195481440	K562	blood:	n/a	n/a
11	ATF1	chr1:194945122-194945347	K562	blood:	n/a	n/a
12	ATF1	chr1:194854272-194854396	K562	blood:	n/a	n/a
13	ATF1	chr1:194801183-194801389	K562	blood:	n/a	n/a
14	ATF1	chr1:194921272-194921554	K562	blood:	n/a	n/a
15	ATF1	chr1:195609822-195609871	K562	blood:	n/a	n/a
16	ATF1	chr1:194963175-194963179	K562	blood:	n/a	n/a
17	ATF1	chr1:194979275-194979408	K562	blood:	n/a	n/a
18	ATF1	chr1:194900519-194900719	K562	blood:	n/a	n/a
19	ATF1	chr1:194842202-194842859	K562	blood:	n/a	n/a
20	ATF1	chr1:194888195-194888777	K562	blood:	n/a	n/a
21	ATF1	chr1:194799503-194799511	K562	blood:	n/a	n/a
22	ATF1	chr1:194878498-194878553	K562	blood:	n/a	n/a
23	ATF1	chr1:194928895-194928956	K562	blood:	n/a	n/a
24	ATF1	chr1:195543739-195543774	K562	blood:	n/a	n/a
25	ATF1	chr1:194872673-194872955	K562	blood:	n/a	n/a
26	ATF1	chr1:194933783-194933793	K562	blood:	n/a	n/a
27	ATF1	chr1:194869527-194869541	K562	blood:	n/a	n/a
28	ATF1	chr1:195181877-195181932	K562	blood:	n/a	n/a
29	ATF2	chr1:194799350-194799932	GM12878	blood:	n/a	n/a
30	ATF2	chr1:194799428-194799830	GM12878	blood:	n/a	n/a
31	ATF2	chr1:195164239-195165053	GM12878	blood:	n/a	n/a
32	ATF2	chr1:195164308-195165083	GM12878	blood:	n/a	n/a
33	ATF3	chr1:194842480-194842881	HCT-116	colon:	n/a	n/a
34	ATF3	chr1:194842509-194842860	HCT-116	colon:	n/a	n/a
35	ATF3	chr1:194842420-194842851	K562	blood:	n/a	n/a
36	BACH1	chr1:195122356-195122540	H1-hESC	embryonic stem cell:	n/a	n/a
37	BACH1	chr1:194828928-194829127	K562	blood:	n/a	n/a
38	BACH1	chr1:195122285-195122583	K562	blood:	n/a	n/a
39	BACH1	chr1:195250537-195250544	K562	blood:	n/a	n/a
40	BATF	chr1:195164462-195165019	GM12878	blood:	n/a	n/a
41	BATF	chr1:195301352-195301514	GM12878	blood:	n/a	n/a
42	BATF	chr1:195164439-195165066	GM12878	blood:	n/a	n/a
43	BCL11A	chr1:195164332-195165095	GM12878	blood:	n/a	n/a
44	BCL11A	chr1:195164392-195165066	GM12878	blood:	n/a	n/a
45	BCL3	chr1:195164564-195164876	GM12878	blood:	n/a	n/a
46	BCL3	chr1:195164566-195164924	GM12878	blood:	n/a	n/a
47	BCLAF1	chr1:195164254-195165079	GM12878	blood:	n/a	n/a
48	BCLAF1	chr1:195164321-195165003	GM12878	blood:	n/a	n/a
49	BCLAF1	chr1:194828925-194830232	K562	blood:	n/a	n/a
50	BHLHE40	chr1:194827856-194828137	K562	blood:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:195023534-195023584	PFSK-1	brain:	n/a
2	chr1:194828448-194828498	U87	brain:	n/a
3	chr1:195023534-195023584	CMK	blood:	n/a
4	chr1:195023534-195023584	SAEC	small airway:	n/a
5	chr1:194828448-194828498	GM12892	blood:	n/a
6	chr1:195023534-195023584	HAEpiC	amniotic membrane:	n/a
7	chr1:195023534-195023584	NHBE	bronchial:	n/a
8	chr1:195023534-195023584	HRE	kidney:	n/a
9	chr1:194828448-194828498	PANC-1	pancreas:	n/a
10	chr1:195023534-195023584	ProgFib	skin:	n/a
11	chr1:195023534-195023584	PANC-1	pancreas:	n/a
12	chr1:194828448-194828498	ProgFib	skin:	n/a
13	chr1:195023534-195023584	ovcar-3	ovarian:	n/a
14	chr1:194828448-194828498	PFSK-1	brain:	n/a
15	chr1:194828299-194828349	HRPEpiC	eye:	n/a
16	chr1:195023534-195023584	HL-60	blood:	n/a
17	chr1:194828448-194828498	HRE	kidney:	n/a
18	chr1:194828448-194828498	SAEC	small airway:	n/a
19	chr1:195023534-195023584	Hepatocyte	liver:	n/a
20	chr1:195023534-195023584	HUVEC	blood vessel:	n/a
21	chr1:194828448-194828498	HEEpiC	esophagus:	n/a
22	chr1:194828448-194828498	HCM	heart:	n/a
23	chr1:194828299-194828349	IMR90	lung:	fetal
24	chr1:194828299-194828349	CMK	blood:	n/a
25	chr1:194828448-194828498	ECC-1	luminal epithelium:	n/a
26	chr1:194828448-194828498	BJ	skin:	n/a
27	chr1:195023534-195023584	AG04449	skin:	fetal
28	chr1:195023534-195023584	MCF-7	breast:	n/a
29	chr1:194828299-194828349	BE2_C	brain:	n/a
30	chr1:194828448-194828498	GM06990	blood:	n/a
31	chr1:195023534-195023584	K562	blood:	n/a
32	chr1:194828299-194828349	A549	lung:	n/a
33	chr1:194828448-194828498	HEK293	kidney:	embryo
34	chr1:194828448-194828498	HMEC	breast:	n/a
35	chr1:194828448-194828498	SKMC	muscle:	n/a
36	chr1:194828448-194828498	Jurkat	blood:	n/a
37	chr1:194828448-194828498	HRPEpiC	eye:	n/a
38	chr1:195023534-195023584	Hela-S3	cervix:	n/a
39	chr1:194828448-194828498	AG04450	lung:	fetal
40	chr1:195023534-195023584	NT2-D1	testis:	n/a
41	chr1:194828299-194828349	H1-hESC	embryonic stem cell:	embryo
42	chr1:194828448-194828498	AG09309	skin:	n/a
43	chr1:194828299-194828349	HRCEpiC	kidney:	n/a
44	chr1:194828299-194828349	SK-N-SH_RA	brain:	n/a
45	chr1:195023534-195023584	GM06990	blood:	n/a
46	chr1:194828448-194828498	PrEC	prostate:	n/a
47	chr1:195023534-195023584	HRCEpiC	kidney:	n/a
48	chr1:194828299-194828349	Caco-2	colon:	n/a
49	chr1:194828448-194828498	MCF10A-Er-Src	breast:	n/a
50	chr1:195023534-195023584	A549	lung:	n/a

(count:139 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr1:195502291..195505198-chr1:195514179..195516495,2	K562	blood:
2	chr1:194816153..194817799-chr1:194825440..194827833,2	K562	blood:
3	chr1:195262020..195263706-chr1:195272247..195274831,2	K562	blood:
4	chr1:195474802..195477777-chr1:195478958..195481457,2	K562	blood:
5	chr1:194811883..194813573-chr1:194831877..194834030,2	K562	blood:
6	chr1:194811883..194813573-chr1:194831877..194834030,2	K562	blood:
7	chr1:195438395..195441122-chr1:195442393..195443903,2	K562	blood:
8	chr1:195308037..195310638-chr1:195312070..195313866,2	MCF-7	breast:
9	chr1:195605744..195607558-chr1:195610835..195613690,2	K562	blood:
10	chr1:195233955..195235990-chr1:195238834..195240836,2	K562	blood:
11	chr1:195076488..195078314-chr16:29816661..29818822,2	MCF-7	breast:
12	chr1:194810607..194812791-chr1:194825406..194826910,2	K562	blood:
13	chr1:194827292..194830199-chr1:194885354..194888376,3	K562	blood:
14	chr1:194833686..194836577-chr1:194840293..194843252,2	K562	blood:
15	chr1:195308037..195310638-chr1:195312070..195313866,2	MCF-7	breast:
16	chr1:194833686..194836577-chr1:194840293..194843252,2	K562	blood:
17	chr1:195413793..195416066-chr1:195416785..195419173,2	K562	blood:
18	chr1:195236405..195237102-chr2:169335217..169335963,2	MCF-7	breast:
19	chr1:194808956..194810740-chr1:194810823..194813359,2	K562	blood:
20	chr1:194813574..194815333-chr1:194827926..194830696,3	K562	blood:
21	chr1:194625855..194628671-chr1:194827046..194829972,3	K562	blood:
22	chr1:194828161..194830598-chr1:194840247..194842578,2	K562	blood:
23	chr1:195270062..195272293-chr1:195296328..195299059,2	MCF-7	breast:
24	chr1:195474802..195477777-chr1:195478958..195481457,2	K562	blood:
25	chr1:194821076..194822718-chr1:194827605..194831721,4	K562	blood:
26	chr1:195518670..195520403-chr1:195533153..195535062,2	K562	blood:
27	chr1:194894090..194896590-chr1:194908541..194910307,2	MCF-7	breast:
28	chr1:194894090..194896590-chr1:194908541..194910307,2	MCF-7	breast:
29	chr1:194782064..194783617-chr1:194823209..194825644,2	K562	blood:
30	chr1:194804501..194806498-chr1:194816896..194818919,2	K562	blood:
31	chr1:194808418..194813553-chr1:194816550..194820694,5	K562	blood:
32	chr1:194816153..194817799-chr1:194825440..194827833,2	K562	blood:
33	chr1:195211970..195213512-chr1:195217966..195220235,2	K562	blood:
34	chr1:194864008..194866177-chr1:194870859..194873394,2	K562	blood:
35	chr1:194819540..194821176-chr1:194824149..194827039,2	K562	blood:
36	chr1:195502291..195505198-chr1:195514179..195516495,2	K562	blood:
37	chr1:195514637..195515437-chr4:98218446..98219186,2	MCF-7	breast:
38	chr1:195442462..195444603-chr1:195444759..195446417,2	MCF-7	breast:
39	chr1:195262020..195263706-chr1:195272247..195274831,2	K562	blood:
40	chr1:194796974..194798913-chr1:194802192..194803906,2	K562	blood:
41	chr1:195514419..195515039-chr5:57606225..57606777,2	MCF-7	breast:
42	chr1:195385198..195387219-chr1:195683079..195685011,2	K562	blood:
43	chr1:194819060..194821727-chr1:194842540..194844189,2	K562	blood:
44	chr1:194803086..194804803-chr1:194807093..194810112,3	K562	blood:
45	chr1:194883565..194884392-chr3:64008754..64009520,2	MCF-7	breast:
46	chr1:194782064..194783617-chr1:194823209..194825644,2	K562	blood:
47	chr1:194830443..194832725-chr1:194885679..194888143,2	K562	blood:
48	chr1:195314819..195316810-chr1:195319212..195320954,2	MCF-7	breast:
49	chr1:194803086..194804803-chr1:194807093..194810112,3	K562	blood:
50	chr1:194976691..194979568-chr1:194983292..194986112,2	K562	blood:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CFH-1	chr1:195450556-195450708	XLOC_000511
2	lnc-CFH-1	chr1:195469301-195469368	XLOC_000511
3	lnc-KCNT2-4	chr1:195436980-195437187	expReg_chr1_18917_-

No data

Variant related genes	Relation type
ENSG00000265108	TF binding region
ENSG00000265108	CpG island
ENSG00000023572	chromatin interactions
ENSG00000103495	chromatin interactions
ENSG00000163636	chromatin interactions
ENSG00000200997	chromatin interactions

Extended variants
information (count: 7099 )
Associated
traits (count: 117 )

Variant overlapped rSNPs/rCNVs (count:7099 , 50 per page) page: 1 2 3 4 5 6 7 ... 142

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs578083778	chr1:194779042-194779043	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs539228594	chr1:194779090-194779091	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs553624582	chr1:194779111-194779112	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs143701471	chr1:194779200-194779201	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs542576654	chr1:194779211-194779212	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs564001693	chr1:194779213-194779214	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs12088942	chr1:194779240-194779241	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs550059523	chr1:194779247-194779248	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs76879241	chr1:194779273-194779274	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs571804783	chr1:194779316-194779317	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs142762803	chr1:194779329-194779330	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs542354772	chr1:194779335-194779336	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs113047835	chr1:194779339-194779340	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs78718187	chr1:194779402-194779403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs193137036	chr1:194779414-194779415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs185206487	chr1:194779427-194779428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs145564864	chr1:194779462-194779463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs190185347	chr1:194779470-194779471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs370448316	chr1:194779477-194779478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs560529373	chr1:194779485-194779486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs138091162	chr1:194779489-194779490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs570828984	chr1:194779509-194779510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs535147940	chr1:194779511-194779512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs553489826	chr1:194779528-194779529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs74484271	chr1:194779550-194779551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs542408672	chr1:194779574-194779575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs150555682	chr1:194779587-194779588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs35317196	chr1:194779684-194779685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs576015021	chr1:194779780-194779781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs575904090	chr1:194779801-194779802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs181569030	chr1:194779805-194779806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs185272008	chr1:194779845-194779846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs531961111	chr1:194779891-194779892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs540766621	chr1:194779925-194779926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs188625887	chr1:194779934-194779935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs529693826	chr1:194780001-194780002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs4657940	chr1:194780006-194780007	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs368200708	chr1:194780086-194780087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs565202252	chr1:194780105-194780106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs180717554	chr1:194780129-194780130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs186087781	chr1:194780130-194780131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs530853687	chr1:194780172-194780173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs139559037	chr1:194780301-194780302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs192196135	chr1:194780306-194780307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs182326014	chr1:194780318-194780319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs79332272	chr1:194780360-194780361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs149279794	chr1:194780393-194780394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs186930769	chr1:194780394-194780395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs557545131	chr1:194780401-194780402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs371971771	chr1:194780582-194780583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:117)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Carcinoma ex pleomorphic adenoma	18828159	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
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
Neuroblastoma	21899760	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	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
Hepatocellular carcinoma	18803288	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
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	20688739	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21611746	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	19010865	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Glioblastoma multiforme	22286061	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Mental retardation	21062444	CNVD
Liver carcinoma	19366792	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Medulloblastoma	21163964	CNVD
Maculopathy	22022419	CNVD
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD
Hypoplastic left heart syndrome	22349727	CNVD
Maculopathy	22355348	CNVD
Schizophrenia	21346763	CNVD
early-passage human iPS cells	21368824	CNVD
Recurrent pregnancy loss	19789632	CNVD
Autism	21865298	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Ollier disease	21235737	CNVD
Maculopathy	21850184	CNVD
Schizophrenia	20967226	CNVD
Oral cancer	21386901	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Asthma	20841430	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	19812545	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Burkitt''s lymphoma	20823134	CNVD
Lung adenocarcinoma	21935476	CNVD
Gastric cancer	22014070	CNVD
Intellectual disability	21811512	CNVD

Chromatin state (count:373 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:194763000-194807600	Weak transcription	K562	blood
2	chr1:194779000-194779400	Enhancers	Fetal Lung	lung
3	chr1:194787000-194787200	Enhancers	Primary B cells from peripheral blood	blood
4	chr1:194787800-194788000	Enhancers	Primary B cells from peripheral blood	blood
5	chr1:194798200-194799400	Enhancers	Primary B cells from cord blood	blood
6	chr1:194798200-194801600	Enhancers	Primary B cells from peripheral blood	blood
7	chr1:194798800-194799200	Enhancers	GM12878-XiMat	blood
8	chr1:194799200-194799800	Active TSS	GM12878-XiMat	blood
9	chr1:194799400-194800000	Flanking Active TSS	Primary B cells from cord blood	blood
10	chr1:194799800-194800000	Flanking Active TSS	GM12878-XiMat	blood
11	chr1:194800000-194800400	Enhancers	GM12878-XiMat	blood
12	chr1:194800000-194800800	Enhancers	Primary B cells from cord blood	blood
13	chr1:194802200-194802800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:194802200-194803400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr1:194807600-194807800	Strong transcription	K562	blood
16	chr1:194807800-194808000	ZNF genes & repeats	K562	blood
17	chr1:194808000-194825600	Weak transcription	K562	blood
18	chr1:194824400-194825800	Weak transcription	Right Atrium	heart
19	chr1:194825600-194831000	Active TSS	K562	blood
20	chr1:194825800-194826000	ZNF genes & repeats	Right Atrium	heart
21	chr1:194826000-194829200	Weak transcription	Right Atrium	heart
22	chr1:194839800-194840800	Enhancers	Primary B cells from peripheral blood	blood
23	chr1:194842200-194842800	Enhancers	K562	blood
24	chr1:194852400-194852600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr1:194852800-194858400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr1:194858400-194858800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr1:194858400-194858800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr1:194858400-194858800	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr1:194858400-194858800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr1:194858400-194858800	ZNF genes & repeats	Gastric	stomach
31	chr1:194858400-194858800	ZNF genes & repeats	Right Atrium	heart
32	chr1:194858800-194859400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr1:194858800-194860800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr1:194860800-194861000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr1:194886600-194887200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr1:194886800-194887200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr1:194887200-194888200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr1:194887200-194888200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr1:194888000-194888800	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr1:194888200-194888600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr1:194888200-194888800	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr1:194888400-194888600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr1:194888400-194888800	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr1:194898400-194899400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr1:194899400-194900200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr1:194900200-194900400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr1:194908600-194910800	Enhancers	Fetal Brain Male	brain
48	chr1:194908800-194910000	Enhancers	Fetal Brain Female	brain
49	chr1:194910000-194910400	Weak transcription	Fetal Brain Female	brain
50	chr1:194910400-194910800	Enhancers	Fetal Brain Female	brain

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