Variant report

Variant	nsv497877
Chromosome Location	chr5:69372450-70328742
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9925)
CpG islands
(count:734)
Chromatin interactive
region (count:0)
LncRNA
region (count:10)
Mature miRNA
region (count: 0)
miRNA target
sites (count:6)

(count:9925 , 50 per page) page: 1 2 3 4 5 6 7 ... 199

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr5:69696778-69696970	K562	blood:	n/a	n/a
2	ATF3	chr5:69696877-69696999	K562	blood:	n/a	n/a
3	BATF	chr5:69881708-69882291	GM12878	blood:	n/a	n/a
4	BATF	chr5:69551720-69552017	GM12878	blood:	n/a	n/a
5	BATF	chr5:69456351-69456586	GM12878	blood:	n/a	n/a
6	BATF	chr5:69543675-69543832	GM12878	blood:	n/a	n/a
7	BATF	chr5:70111545-70111758	GM12878	blood:	n/a	n/a
8	BATF	chr5:69712063-69712542	GM12878	blood:	n/a	chr5:69712253-69712264
9	BATF	chr5:69854547-69854822	GM12878	blood:	n/a	chr5:69854638-69854647
10	BATF	chr5:69879076-69879349	GM12878	blood:	n/a	n/a
11	BATF	chr5:69696587-69697198	GM12878	blood:	n/a	n/a
12	BATF	chr5:70010684-70010959	GM12878	blood:	n/a	chr5:70010802-70010813 chr5:70010803-70010813
13	BATF	chr5:69581863-69582241	GM12878	blood:	n/a	n/a
14	BATF	chr5:69703633-69704665	GM12878	blood:	n/a	n/a
15	BATF	chr5:69504985-69505250	GM12878	blood:	n/a	n/a
16	BATF	chr5:69798110-69798395	GM12878	blood:	n/a	n/a
17	BATF	chr5:69580804-69581247	GM12878	blood:	n/a	n/a
18	BATF	chr5:69522936-69523303	GM12878	blood:	n/a	n/a
19	BATF	chr5:70022031-70023063	GM12878	blood:	n/a	n/a
20	BATF	chr5:69695755-69696492	GM12878	blood:	n/a	n/a
21	BATF	chr5:70014987-70015190	GM12878	blood:	n/a	n/a
22	BATF	chr5:70044239-70044454	GM12878	blood:	n/a	n/a
23	BATF	chr5:69625609-69625835	GM12878	blood:	n/a	n/a
24	BATF	chr5:70015590-70016239	GM12878	blood:	n/a	n/a
25	BATF	chr5:69837674-69838451	GM12878	blood:	n/a	n/a
26	BATF	chr5:69541303-69542084	GM12878	blood:	n/a	n/a
27	BATF	chr5:70043256-70043537	GM12878	blood:	n/a	chr5:70043459-70043468
28	BATF	chr5:69557281-69557496	GM12878	blood:	n/a	n/a
29	BATF	chr5:70017249-70017652	GM12878	blood:	n/a	n/a
30	BATF	chr5:70046680-70046878	GM12878	blood:	n/a	chr5:70046762-70046773
31	BATF	chr5:69994942-69995184	GM12878	blood:	n/a	n/a
32	BATF	chr5:70065573-70065788	GM12878	blood:	n/a	n/a
33	BATF	chr5:70280725-70281071	GM12878	blood:	n/a	n/a
34	BATF	chr5:69598427-69598711	GM12878	blood:	n/a	n/a
35	BATF	chr5:69700337-69700589	GM12878	blood:	n/a	n/a
36	BATF	chr5:69544737-69544979	GM12878	blood:	n/a	n/a
37	BATF	chr5:69920978-69921204	GM12878	blood:	n/a	n/a
38	BATF	chr5:70049736-70049972	GM12878	blood:	n/a	n/a
39	BATF	chr5:69831042-69831257	GM12878	blood:	n/a	n/a
40	BATF	chr5:70111622-70111924	GM12878	blood:	n/a	n/a
41	BATF	chr5:69585489-69586138	GM12878	blood:	n/a	n/a
42	BATF	chr5:69539188-69539612	GM12878	blood:	n/a	n/a
43	BATF	chr5:69473052-69473265	GM12878	blood:	n/a	n/a
44	BATF	chr5:69472886-69473188	GM12878	blood:	n/a	n/a
45	BATF	chr5:69868492-69868672	GM12878	blood:	n/a	n/a
46	BATF	chr5:70052165-70052370	GM12878	blood:	n/a	n/a
47	BATF	chr5:69848056-69848353	GM12878	blood:	n/a	n/a
48	BATF	chr5:70043640-70043922	GM12878	blood:	n/a	n/a
49	BATF	chr5:69602112-69602362	GM12878	blood:	n/a	n/a
50	BATF	chr5:69819313-69819679	GM12878	blood:	n/a	n/a

(count:734 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:69697369-69697419	NHBE	bronchial:	n/a
2	chr5:70320693-70320743	HCT-116	colon:	n/a
3	chr5:69697369-69697419	NHBE	bronchial:	n/a
4	chr5:70320693-70320743	HCT-116	colon:	n/a
5	chr5:70309843-70309893	AG04450	lung:	fetal
6	chr5:70309843-70309893	NT2-D1	testis:	n/a
7	chr5:70220559-70220609	PrEC	prostate:	n/a
8	chr5:70320693-70320743	GM12878	blood:	n/a
9	chr5:70320693-70320743	AG09309	skin:	n/a
10	chr5:70320693-70320743	AG09319	gingival:	n/a
11	chr5:70308497-70308547	MCF-7	breast:	n/a
12	chr5:69803286-69803336	SK-N-SH	brain:	n/a
13	chr5:70218963-70219013	AoSMC	blood vessel:	n/a
14	chr5:69803286-69803336	NB4	blood:	n/a
15	chr5:69784092-69784142	SK-N-SH	brain:	n/a
16	chr5:69804518-69804568	AG10803	skin:	n/a
17	chr5:69483768-69483818	ProgFib	skin:	n/a
18	chr5:69804518-69804568	HL-60	blood:	n/a
19	chr5:69697369-69697419	HUVEC	blood vessel:	n/a
20	chr5:70309843-70309893	NHDF-neo	bronchial:	n/a
21	chr5:70220559-70220609	HCM	heart:	n/a
22	chr5:69697369-69697419	U87	brain:	n/a
23	chr5:70309843-70309893	MCF10A-Er-Src	breast:	n/a
24	chr5:70309843-70309893	H1-hESC	embryonic stem cell:	embryo
25	chr5:70308497-70308547	AG09309	skin:	n/a
26	chr5:70218963-70219013	SAEC	small airway:	n/a
27	chr5:69803286-69803336	HEEpiC	esophagus:	n/a
28	chr5:69483768-69483818	AG04449	skin:	fetal
29	chr5:69783979-69784029	CMK	blood:	n/a
30	chr5:69784092-69784142	T-47D	breast:	n/a
31	chr5:69803286-69803336	K562	blood:	n/a
32	chr5:69483768-69483818	HCT-116	colon:	n/a
33	chr5:70218963-70219013	H1-hESC	embryonic stem cell:	embryo
34	chr5:69784092-69784142	ovcar-3	ovarian:	n/a
35	chr5:70220559-70220609	H1-hESC	embryonic stem cell:	embryo
36	chr5:69804518-69804568	CMK	blood:	n/a
37	chr5:69483768-69483818	K562	blood:	n/a
38	chr5:69483768-69483818	Hela-S3	cervix:	n/a
39	chr5:69783979-69784029	NH-A	brain:	n/a
40	chr5:70320693-70320743	HepG2	liver:	n/a
41	chr5:69783979-69784029	IMR90	lung:	fetal
42	chr5:69783979-69784029	ECC-1	luminal epithelium:	n/a
43	chr5:69783979-69784029	HRCEpiC	kidney:	n/a
44	chr5:70309843-70309893	AG09309	skin:	n/a
45	chr5:70308497-70308547	NHBE	bronchial:	n/a
46	chr5:70308497-70308547	U87	brain:	n/a
47	chr5:70246896-70246946	HIPEpiC	eye:	n/a
48	chr5:69697369-69697419	HRPEpiC	eye:	n/a
49	chr5:69697369-69697419	NT2-D1	testis:	n/a
50	chr5:69784092-69784142	HNPCEpiC	eye:	n/a

No data

(count:10 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SERF1A-2	chr5:70149363-70149508	NONHSAT101987
2	lnc-SMN2-2	chr5:69745463-69746180	ENSG00000269983.1
3	lnc-SERF1A-2	chr5:70146637-70146751	NONHSAT101987
4	lnc-SERF1B-2	chr5:69372740-69373356	NONHSAT101960
5	lnc-NAIP-3	chr5:69733322-69734405	NONHSAT101975
6	lnc-SERF1A-2	chr5:70091602-70091743	NONHSAT101987
7	lnc-NAIP-5	chr5:69435402-69435547	NONHSAT101964
8	lnc-NAIP-5	chr5:69438158-69438272	NONHSAT101964
9	lnc-NAIP-5	chr5:69493082-69493223	NONHSAT101964
10	lnc-NAIP-2	chr5:69776697-69777165	NONHSAT101978

No data

(count:6 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	SMN2	hsa-miR-30a-5p	chr5:69373364-69373385
2	SMN2	hsa-miR-30a-5p	chr5:70248784-70248805
3	SMN2	hsa-miR-132-3p	chr5:70248617-70248638
4	SMN2	hsa-miR-132-3p	chr5:69373197-69373218
5	SMN2	hsa-miR-186-5p	chr5:69373391-69373414
6	SMN2	hsa-miR-186-5p	chr5:70248811-70248834

Variant related genes	Relation type
NAIP	TF binding region
ENSG00000251007	TF binding region
ENSG00000253333	TF binding region
ENSG00000250867	TF binding region
ENSG00000253816	TF binding region
CDH12P1	TF binding region
ENSG00000237075	TF binding region
CDH12P3	TF binding region
SERF1A	TF binding region
ENSG00000205565	TF binding region
ENSG00000253366	TF binding region
ENSG00000250918	TF binding region
ENSG00000196302	TF binding region
ENSG00000197284	TF binding region
ENSG00000254701	TF binding region
SMN1	TF binding region
ENSG00000250687	TF binding region
GTF2H2B	TF binding region
ENSG00000179978	TF binding region
ENSG00000269983	TF binding region
NAIP	CpG island
ENSG00000251007	CpG island
ENSG00000253333	CpG island
ENSG00000250867	CpG island
ENSG00000253816	CpG island
CDH12P1	CpG island
ENSG00000237075	CpG island
CDH12P3	CpG island
SERF1A	CpG island
ENSG00000205565	CpG island
ENSG00000253366	CpG island
ENSG00000250918	CpG island
ENSG00000196302	CpG island
ENSG00000197284	CpG island
ENSG00000254701	CpG island
SMN1	CpG island
ENSG00000250687	CpG island
GTF2H2B	CpG island
ENSG00000179978	CpG island
ENSG00000269983	CpG island
GLCE	miRNA target sites

Extended variants
information (count: 1274 )
Associated
traits (count: 129 )

Variant overlapped rSNPs/rCNVs (count:1274 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564381826	chr5:69372479-69372480	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs531439953	chr5:69372481-69372482	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs543593916	chr5:69372501-69372502	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs561490407	chr5:69372539-69372540	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs369745691	chr5:69372584-69372585	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs145999618	chr5:69372613-69372614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs212213	chr5:69372616-69372617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs558936076	chr5:69372658-69372659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs532921933	chr5:69372690-69372691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs551824084	chr5:69372692-69372693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs570323404	chr5:69372829-69372830	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
12	rs537296015	chr5:69372891-69372892	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
13	rs549602808	chr5:69372900-69372901	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
14	rs567819267	chr5:69373000-69373001	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
15	rs139591666	chr5:69373078-69373079	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
16	rs576032516	chr5:69373128-69373129	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
17	rs78949991	chr5:69373194-69373195	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
18	rs553477301	chr5:69373609-69373610	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs578090789	chr5:69373633-69373634	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs539006024	chr5:69373637-69373638	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs78930645	chr5:69373667-69373668	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
22	rs76955058	chr5:69373682-69373683	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs576281986	chr5:69373706-69373707	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs543302879	chr5:69373716-69373717	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs113466106	chr5:69373905-69373906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs74973802	chr5:69373916-69373917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs561552726	chr5:69375131-69375132	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs576516018	chr5:69375132-69375133	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs573464328	chr5:69375143-69375144	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs540756695	chr5:69375218-69375219	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs212211	chr5:69375219-69375220	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs4958920	chr5:69375254-69375255	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs538646241	chr5:69375259-69375260	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs58866189	chr5:69375278-69375279	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs532832024	chr5:69375299-69375300	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs551356189	chr5:69375304-69375305	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs563092097	chr5:69375346-69375347	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs212210	chr5:69375425-69375426	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs531246050	chr5:69375460-69375461	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs549664501	chr5:69375513-69375514	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs567881842	chr5:69375524-69375525	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs111256620	chr5:69375525-69375526	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs112693631	chr5:69375535-69375536	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs181319950	chr5:69375579-69375580	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs185193201	chr5:69375583-69375584	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs543527450	chr5:69375585-69375586	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs571705504	chr5:69375600-69375601	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs538703513	chr5:69375605-69375606	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs572291872	chr5:69375645-69375646	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs200191056	chr5:69375647-69375648	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:129)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ovarian cancer	21781307	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	22032731	CNVD
Prostate cancer	21965145	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Hepatocellular carcinoma	16750200	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	21251322	CNVD
Oral cancer	21386901	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17133270	CNVD
Breast cancer	19602461	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
abnormal development	18461090	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21045282	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Myelodysplastic syndrome	18663149	CNVD
Spinal muscular atrophy	15981080	CNVD
Spinal muscular atrophy	18839960	CNVD
Spinal muscular atrophy	19716110	CNVD
Sezary syndrome	18413736	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21990379	CNVD
Hirschsprung''s Disease	21712996	CNVD
Apoptosis	19488400	CNVD
Breast cancer	22048815	CNVD
Myelofibrosis	22110671	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Acute monocytic leukemia	16498392	CNVD
Colorectal cancer	20459617	CNVD
Gastric adenocarcinoma	19115996	CNVD
Spinal muscular atrophy	17160897	CNVD
Spinal muscular atrophy	17668391	CNVD
Spinal muscular atrophy	17668395	CNVD
Glioblastoma multiforme	22286061	CNVD
craniofacial dysmorphism	21918468	CNVD
Multiple myeloma	16616336	CNVD
Prostate cancer	16461572	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Pseudo-TORCH syndrome	20727516	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Obesity	21131291	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	21364760	CNVD
Mental retardation	20877625	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Spinal muscular atrophy	17647030	CNVD
Spinal muscular atrophy	20937953	CNVD
Spinal muscular atrophy	20442745	CNVD
Spinal muscular atrophy	21227393	CNVD
Autism	21865298	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Disease	19212409	CNVD
Schizophrenia	21346763	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Autism	22549408	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:361 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:69365600-69373600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:69365600-69375000	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr5:69365800-69376600	Weak transcription	Ovary	ovary
4	chr5:69365800-69377400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr5:69366000-69376600	Weak transcription	Fetal Intestine Small	intestine
6	chr5:69366000-69376600	Weak transcription	Thymus	Thymus
7	chr5:69369000-69381000	Weak transcription	Fetal Muscle Leg	muscle
8	chr5:69369600-69375000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr5:69369600-69381000	Weak transcription	Fetal Thymus	thymus
10	chr5:69369800-69375200	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr5:69370000-69377200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr5:69370600-69375000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr5:69370600-69375200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr5:69371000-69377200	Weak transcription	Placenta	Placenta
15	chr5:69372200-69375200	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr5:69372200-69375200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr5:69372200-69375400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr5:69372200-69377200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr5:69372200-69381200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr5:69372200-69381800	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr5:69372200-69382000	Weak transcription	Duodenum Mucosa	Duodenum
22	chr5:69372200-69382200	Weak transcription	Left Ventricle	heart
23	chr5:69372200-69382200	Weak transcription	Dnd41	blood
24	chr5:69372200-69382600	Weak transcription	Liver	Liver
25	chr5:69372400-69372600	Enhancers	Monocytes-CD14+_RO01746	blood
26	chr5:69372600-69407200	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr5:69373200-69375800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr5:69373200-69375800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr5:69373200-69375800	Weak transcription	Pancreas	Pancrea
30	chr5:69373200-69375800	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr5:69373200-69376000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr5:69373200-69376000	Weak transcription	Lung	lung
33	chr5:69373200-69376000	Weak transcription	Stomach Smooth Muscle	stomach
34	chr5:69373400-69375000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr5:69373400-69375000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr5:69373600-69373800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr5:69373600-69375400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr5:69373800-69375000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr5:69374000-69376600	Weak transcription	Primary T helper cells fromperipheralblood	blood
40	chr5:69374200-69376600	Weak transcription	Primary T helper cells PMA-I stimulated	--
41	chr5:69374200-69376600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr5:69374200-69376600	Weak transcription	Fetal Muscle Trunk	muscle
43	chr5:69374200-69376800	Weak transcription	Primary T cells from cord blood	blood
44	chr5:69374600-69375200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr5:69375000-69375600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr5:69375000-69375600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr5:69375000-69375600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
48	chr5:69375000-69375800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr5:69375000-69375800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
50	chr5:69375000-69375800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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