Variant report

Variant	nsv491966
Chromosome Location	chr5:69843629-70587018
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7485)
CpG islands
(count:427)
Chromatin interactive
region (count:0)
LncRNA
region (count:19)
Mature miRNA
region (count: 0)
miRNA target
sites (count:4)

(count:7485 , 50 per page) page: 1 2 3 4 5 6 7 ... 150

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr5:70586985-70587016	HepG2	liver:	n/a	n/a
2	BATF	chr5:70585042-70585622	GM12878	blood:	n/a	n/a
3	BATF	chr5:70586369-70587093	GM12878	blood:	n/a	n/a
4	BATF	chr5:70017249-70017652	GM12878	blood:	n/a	n/a
5	BATF	chr5:70363039-70363251	GM12878	blood:	n/a	n/a
6	BATF	chr5:69881066-69881646	GM12878	blood:	n/a	n/a
7	BATF	chr5:70543567-70543994	GM12878	blood:	n/a	n/a
8	BATF	chr5:70043256-70043537	GM12878	blood:	n/a	chr5:70043459-70043468
9	BATF	chr5:70583052-70583325	GM12878	blood:	n/a	n/a
10	BATF	chr5:70025557-70025755	GM12878	blood:	n/a	chr5:70025663-70025674 chr5:70025664-70025674
11	BATF	chr5:69868492-69868672	GM12878	blood:	n/a	n/a
12	BATF	chr5:70058347-70059128	GM12878	blood:	n/a	n/a
13	BATF	chr5:69877858-69878274	GM12878	blood:	n/a	n/a
14	BATF	chr5:70010684-70010959	GM12878	blood:	n/a	chr5:70010802-70010813 chr5:70010803-70010813
15	BATF	chr5:70539589-70539933	GM12878	blood:	n/a	n/a
16	BATF	chr5:69854149-69854431	GM12878	blood:	n/a	n/a
17	BATF	chr5:69984044-69984256	GM12878	blood:	n/a	n/a
18	BATF	chr5:70044205-70044406	GM12878	blood:	n/a	n/a
19	BATF	chr5:69881992-69882277	GM12878	blood:	n/a	n/a
20	BATF	chr5:70017925-70018198	GM12878	blood:	n/a	n/a
21	BATF	chr5:70058356-70059133	GM12878	blood:	n/a	n/a
22	BATF	chr5:70558516-70558791	GM12878	blood:	n/a	chr5:70558607-70558616
23	BATF	chr5:70017900-70018327	GM12878	blood:	n/a	n/a
24	BATF	chr5:70196502-70196766	GM12878	blood:	n/a	n/a
25	BATF	chr5:70545061-70545287	GM12878	blood:	n/a	n/a
26	BATF	chr5:70585691-70586274	GM12878	blood:	n/a	n/a
27	BATF	chr5:69854547-69854822	GM12878	blood:	n/a	chr5:69854638-69854647
28	BATF	chr5:69845643-69845865	GM12878	blood:	n/a	n/a
29	BATF	chr5:70016506-70016819	GM12878	blood:	n/a	n/a
30	BATF	chr5:70020537-70020793	GM12878	blood:	n/a	n/a
31	BATF	chr5:70044671-70044872	GM12878	blood:	n/a	n/a
32	BATF	chr5:70010665-70010955	GM12878	blood:	n/a	chr5:70010802-70010813 chr5:70010803-70010813
33	BATF	chr5:70585008-70585657	GM12878	blood:	n/a	n/a
34	BATF	chr5:70014987-70015190	GM12878	blood:	n/a	n/a
35	BATF	chr5:69877438-69877843	GM12878	blood:	n/a	n/a
36	BATF	chr5:70572459-70572639	GM12878	blood:	n/a	n/a
37	BATF	chr5:70018767-70018986	GM12878	blood:	n/a	n/a
38	BATF	chr5:70557586-70557801	GM12878	blood:	n/a	n/a
39	BATF	chr5:70028634-70029150	GM12878	blood:	n/a	n/a
40	BATF	chr5:70575518-70575716	GM12878	blood:	n/a	chr5:70575634-70575644 chr5:70575633-70575644
41	BATF	chr5:70558503-70558784	GM12878	blood:	n/a	chr5:70558607-70558616
42	BATF	chr5:69905747-69905950	GM12878	blood:	n/a	n/a
43	BATF	chr5:70280725-70281071	GM12878	blood:	n/a	n/a
44	BATF	chr5:69851233-69851446	GM12878	blood:	n/a	n/a
45	BATF	chr5:69886314-69886597	GM12878	blood:	n/a	chr5:69886491-69886501
46	BATF	chr5:70556089-70556296	GM12878	blood:	n/a	n/a
47	BATF	chr5:70555205-70555418	GM12878	blood:	n/a	n/a
48	BATF	chr5:70552028-70552325	GM12878	blood:	n/a	n/a
49	BATF	chr5:70541131-70541377	GM12878	blood:	n/a	n/a
50	BATF	chr5:70019639-70019850	GM12878	blood:	n/a	n/a

(count:427 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:70372505-70372555	GM19239	blood:	n/a
2	chr5:70309843-70309893	HCPEpiC	choroid plexus:	n/a
3	chr5:70309843-70309893	ovcar-3	ovarian:	n/a
4	chr5:70320693-70320743	CMK	blood:	n/a
5	chr5:70372505-70372555	IMR90	lung:	fetal
6	chr5:70218963-70219013	MCF-7	breast:	n/a
7	chr5:70308497-70308547	AoSMC	blood vessel:	n/a
8	chr5:70309843-70309893	HUVEC	blood vessel:	n/a
9	chr5:70309843-70309893	Caco-2	colon:	n/a
10	chr5:70218963-70219013	HL-60	blood:	n/a
11	chr5:70372505-70372555	ProgFib	skin:	n/a
12	chr5:70320693-70320743	MCF10A-Er-Src	breast:	n/a
13	chr5:70320693-70320743	RPTEC	kidney:	n/a
14	chr5:70220559-70220609	BE2_C	brain:	n/a
15	chr5:70218963-70219013	SKMC	muscle:	n/a
16	chr5:70372505-70372555	NT2-D1	testis:	n/a
17	chr5:70372505-70372555	AG10803	skin:	n/a
18	chr5:70320693-70320743	BE2_C	brain:	n/a
19	chr5:70308497-70308547	MCF10A-Er-Src	breast:	n/a
20	chr5:70308497-70308547	GM06990	blood:	n/a
21	chr5:70308497-70308547	RPTEC	kidney:	n/a
22	chr5:70372505-70372555	ovcar-3	ovarian:	n/a
23	chr5:70220559-70220609	PrEC	prostate:	n/a
24	chr5:70308497-70308547	AG09319	gingival:	n/a
25	chr5:70320693-70320743	H1-hESC	embryonic stem cell:	embryo
26	chr5:70218963-70219013	Jurkat	blood:	n/a
27	chr5:70218963-70219013	AG09319	gingival:	n/a
28	chr5:70309843-70309893	HepG2	liver:	n/a
29	chr5:70309843-70309893	AoSMC	blood vessel:	n/a
30	chr5:70320693-70320743	HIPEpiC	eye:	n/a
31	chr5:70308497-70308547	CMK	blood:	n/a
32	chr5:70372505-70372555	Hepatocyte	liver:	n/a
33	chr5:70309843-70309893	NHBE	bronchial:	n/a
34	chr5:70309843-70309893	H1-hESC	embryonic stem cell:	embryo
35	chr5:70246896-70246946	HL-60	blood:	n/a
36	chr5:70308497-70308547	HCT-116	colon:	n/a
37	chr5:70246896-70246946	HCM	heart:	n/a
38	chr5:70246896-70246946	NT2-D1	testis:	n/a
39	chr5:70308497-70308547	HNPCEpiC	eye:	n/a
40	chr5:70309843-70309893	SK-N-SH_RA	brain:	n/a
41	chr5:70308497-70308547	HCM	heart:	n/a
42	chr5:70309843-70309893	SAEC	small airway:	n/a
43	chr5:70372505-70372555	HRPEpiC	eye:	n/a
44	chr5:70218963-70219013	HPAEpiC	pulmonary alveolar:	n/a
45	chr5:70220559-70220609	HMEC	breast:	n/a
46	chr5:70372505-70372555	H1-hESC	embryonic stem cell:	embryo
47	chr5:70309843-70309893	GM12891	blood:	n/a
48	chr5:70308497-70308547	NB4	blood:	n/a
49	chr5:70220559-70220609	H1-hESC	embryonic stem cell:	embryo
50	chr5:70220559-70220609	NH-A	brain:	n/a

No data

(count:19 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SERF1A-2	chr5:70146637-70146751	NONHSAT101987
2	lnc-SMN1-3	chr5:70485544-70485865	NONHSAT102004
3	lnc-NAIP-1	chr5:70360952-70361049	NONHSAT101997
4	lnc-GTF2H2-6	chr5:70529887-70530059	NONHSAT102010
5	lnc-GTF2H2-5	chr5:70525720-70525924	NONHSAT102009
6	lnc-NAIP-1	chr5:70363123-70363465	NONHSAT101997
7	lnc-GTF2H2-1	chr5:70328995-70329470	ENSG00000254353
8	lnc-SERF1A-2	chr5:70091602-70091743	NONHSAT101987
9	lnc-GTF2H2-1	chr5:70329997-70330227	ENSG00000254353
10	lnc-GTF2H2-7	chr5:70492974-70493188	NONHSAT102005
11	lnc-BDP1-5	chr5:70504655-70505021	NONHSAT102007
12	lnc-GTF2H2-7	chr5:70493473-70493608	NONHSAT102005
13	lnc-SMN1-2	chr5:70378669-70379081	NONHSAT101998
14	lnc-GTF2H2-6	chr5:70528927-70529141	NONHSAT102010
15	lnc-GTF2H2-7	chr5:70435716-70435861	NONHSAT102003
16	lnc-SERF1A-2	chr5:70149363-70149508	NONHSAT101987
17	lnc-NAIP-1	chr5:70358579-70358623	NONHSAT101997
18	lnc-GTF2H2-7	chr5:70438472-70438586	NONHSAT102003
19	lnc-GTF2H2-7	chr5:70493473-70493614	NONHSAT102003

No data

(count:4 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	SMN2	hsa-miR-186-5p	chr5:70248811-70248834
2	SMN2	hsa-miR-132-3p	chr5:70248617-70248638
3	GTF2H2	hsa-miR-30a-5p	chr5:70331287-70331308
4	SMN2	hsa-miR-30a-5p	chr5:70248784-70248805

Variant related genes	Relation type
ENSG00000251634	TF binding region
NAIP	TF binding region
ENSG00000238451	TF binding region
CDH12P1	TF binding region
SERF1A	TF binding region
ENSG00000254276	TF binding region
ENSG00000253366	TF binding region
ENSG00000230847	TF binding region
ENSG00000254133	TF binding region
CDH12P4	TF binding region
GTF2H2	TF binding region
ENSG00000196302	TF binding region
ENSG00000197284	TF binding region
ENSG00000254353	TF binding region
SMN1	TF binding region
ENSG00000235558	TF binding region
GUSBP9	TF binding region
ENSG00000251634	CpG island
NAIP	CpG island
ENSG00000238451	CpG island
CDH12P1	CpG island
SERF1A	CpG island
ENSG00000254276	CpG island
ENSG00000253366	CpG island
ENSG00000230847	CpG island
ENSG00000254133	CpG island
CDH12P4	CpG island
GTF2H2	CpG island
ENSG00000196302	CpG island
ENSG00000197284	CpG island
ENSG00000254353	CpG island
SMN1	CpG island
ENSG00000235558	CpG island
GUSBP9	CpG island

Extended variants
information (count: 1174 )
Associated
traits (count: 128 )

Variant overlapped rSNPs/rCNVs (count:1174 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2450377	chr5:70043050-70043051	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs370567298	chr5:70044806-70044807	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs555426051	chr5:70044818-70044819	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs567316773	chr5:70044845-70044846	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs534604667	chr5:70044919-70044920	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs111462930	chr5:70045852-70045853	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs200053236	chr5:70045948-70045949	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs112746166	chr5:70073751-70073752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs112640941	chr5:70073755-70073756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs545653020	chr5:70074200-70074201	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs371950758	chr5:70075326-70075327	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs377264674	chr5:70075389-70075390	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs368455916	chr5:70075443-70075444	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs575775472	chr5:70075444-70075445	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs542792008	chr5:70075777-70075778	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs111390317	chr5:70076121-70076122	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs112718781	chr5:70077257-70077258	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs201732480	chr5:70077281-70077282	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs111475385	chr5:70077849-70077850	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs373485732	chr5:70078449-70078450	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs554705304	chr5:70085653-70085654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs62372661	chr5:70085893-70085894	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
23	rs62372662	chr5:70085982-70085983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs79636010	chr5:70086041-70086042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs376111661	chr5:70086170-70086171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs367793284	chr5:70086227-70086228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs375577188	chr5:70086241-70086242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs371292027	chr5:70086318-70086319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs200388467	chr5:70088251-70088252	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs199509293	chr5:70088313-70088314	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs141982046	chr5:70088360-70088361	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs201193554	chr5:70088475-70088476	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs62372663	chr5:70090068-70090069	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs113874653	chr5:70090101-70090102	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs111885051	chr5:70090366-70090367	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs564966836	chr5:70090707-70090708	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs576812720	chr5:70090902-70090903	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs199763770	chr5:70091040-70091041	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs534123319	chr5:70156421-70156422	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs367811742	chr5:70156476-70156477	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs79701139	chr5:70196970-70196971	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs534876232	chr5:70218972-70218973	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
43	rs538431762	chr5:70220253-70220254	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs377439976	chr5:70220314-70220315	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs372466088	chr5:70220317-70220318	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs76153250	chr5:70220331-70220332	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs558171591	chr5:70220416-70220417	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs370591054	chr5:70220417-70220418	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs563806805	chr5:70220424-70220425	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs371229060	chr5:70220437-70220438	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:128)

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
Mental retardation	20877625	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Spinal muscular atrophy	17647030	CNVD
Spinal muscular atrophy	20937953	CNVD
Spinal muscular atrophy	20442745	CNVD
Spinal muscular atrophy	21227393	CNVD
Breast cancer	21509527	CNVD
Disease	19212409	CNVD
Breast cancer	22522925	CNVD
Autism	21865298	CNVD
Autism	22549408	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Recurrent pregnancy loss	19789632	CNVD
Schizophrenia	21346763	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:193 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:69881800-69882200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr5:69881800-69882200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr5:69881800-69882200	Active TSS	Right Ventricle	heart
4	chr5:69881800-69882200	Active TSS	Stomach Smooth Muscle	stomach
5	chr5:70073000-70075400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr5:70074200-70074400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr5:70084800-70087200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr5:70220200-70220800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr5:70220200-70220800	Active TSS	Rectal Smooth Muscle	rectum
10	chr5:70220400-70220800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr5:70220400-70220800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr5:70220400-70220800	Active TSS	Fetal Muscle Leg	muscle
13	chr5:70220400-70220800	Active TSS	Rectal Mucosa Donor 29	rectum
14	chr5:70220400-70220800	Active TSS	Skeletal Muscle Female	skeletal muscle
15	chr5:70220400-70220800	Active TSS	Stomach Smooth Muscle	stomach
16	chr5:70238000-70257800	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr5:70238800-70247600	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr5:70239000-70252400	Weak transcription	Liver	Liver
19	chr5:70239400-70252000	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr5:70244400-70253000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr5:70244600-70250800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr5:70244800-70256200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr5:70245000-70253000	Weak transcription	Fetal Intestine Small	intestine
24	chr5:70245000-70257600	Weak transcription	Fetal Stomach	stomach
25	chr5:70245200-70250600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr5:70245200-70250800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr5:70245200-70258200	Weak transcription	Fetal Thymus	thymus
28	chr5:70245400-70252600	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr5:70246400-70252400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr5:70246400-70252800	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr5:70246400-70256000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr5:70246400-70258200	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr5:70246600-70252800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr5:70246800-70247400	Enhancers	Primary monocytes fromperipheralblood	blood
35	chr5:70247000-70259600	Weak transcription	Fetal Muscle Leg	muscle
36	chr5:70247600-70248200	Strong transcription	HUES64 Cell Line	embryonic stem cell
37	chr5:70247600-70250800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr5:70247600-70253000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr5:70247800-70248200	Enhancers	Primary neutrophils fromperipheralblood	blood
40	chr5:70247800-70248200	Enhancers	Monocytes-CD14+_RO01746	blood
41	chr5:70248200-70251600	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr5:70248200-70256800	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr5:70248600-70251000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr5:70248600-70251400	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr5:70248600-70251400	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr5:70248600-70251400	Weak transcription	Thymus	Thymus
47	chr5:70249000-70250800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr5:70249200-70258200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr5:70249200-70266400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr5:70249400-70257600	Weak transcription	Dnd41	blood

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