Variant report

Variant	esv3469164
Chromosome Location	chr5:41901829-41903802
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	ATF2	chr5:41903670-41904884	GM12878	blood:	n/a	n/a
2	BHLHE40	chr5:41903750-41904844	GM12878	blood:	n/a	chr5:41904429-41904450 chr5:41904436-41904445 chr5:41904433-41904446 chr5:41904435-41904444 chr5:41904434-41904443 chr5:41904435-41904444
3	BHLHE40	chr5:41903538-41905170	K562	blood:	n/a	chr5:41904429-41904450 chr5:41904436-41904445 chr5:41904433-41904446 chr5:41904435-41904444 chr5:41904434-41904443 chr5:41904435-41904444
4	BRCA1	chr5:41903789-41904549	Hela-S3	cervix:	n/a	n/a
5	CBX3	chr5:41903683-41904814	K562	blood:	n/a	n/a
6	CCNT2	chr5:41903648-41904758	K562	blood:	n/a	n/a
7	CEBPB	chr5:41903771-41904871	GM12878	blood:	n/a	n/a
8	CHD2	chr5:41903698-41904711	K562	blood:	n/a	n/a
9	CHD2	chr5:41903483-41904774	GM12878	blood:	n/a	n/a
10	CREB1	chr5:41903785-41904848	HepG2	liver:	n/a	n/a
11	CREB1	chr5:41903661-41904908	GM12878	blood:	n/a	n/a
12	CREB1	chr5:41903781-41904784	K562	blood:	n/a	n/a
13	CREB1	chr5:41903770-41904627	H1-hESC	embryonic stem cell:	n/a	n/a
14	CTCF	chr5:41903380-41903530	AG04450	lung:	n/a	n/a
15	CUX1	chr5:41903693-41904496	GM12878	blood:	n/a	chr5:41903961-41903975
16	E2F4	chr5:41903789-41904572	MCF10A-Er-Src	breast:	n/a	chr5:41904053-41904064 chr5:41904054-41904066
17	E2F6	chr5:41903784-41904568	A549	lung:	n/a	chr5:41904054-41904066 chr5:41904053-41904064
18	E2F6	chr5:41903596-41904772	H1-hESC	embryonic stem cell:	n/a	chr5:41904593-41904602 chr5:41904054-41904066 chr5:41904053-41904064
19	E2F6	chr5:41903687-41904855	K562	blood:	n/a	chr5:41904593-41904602 chr5:41904054-41904066 chr5:41904053-41904064
20	ELF1	chr5:41903784-41904772	SK-N-SH	brain:	n/a	chr5:41904340-41904353
21	ELF1	chr5:41903740-41904858	MCF-7	breast:	n/a	chr5:41904340-41904353
22	ELF1	chr5:41903798-41904761	GM12878	blood:	n/a	chr5:41904340-41904353
23	ELF1	chr5:41903801-41904833	K562	blood:	n/a	chr5:41904340-41904353
24	ELK1	chr5:41903527-41904876	K562	blood:	n/a	n/a
25	ELK1	chr5:41903590-41904667	GM12878	blood:	n/a	n/a
26	ELK4	chr5:41903625-41904794	Hela-S3	cervix:	n/a	chr5:41904339-41904350
27	EP300	chr5:41903493-41905186	K562	blood:	n/a	chr5:41903700-41903714 chr5:41904139-41904155 chr5:41904968-41904982
28	FOXM1	chr5:41903716-41904831	GM12878	blood:	n/a	n/a
29	GABPA	chr5:41903756-41904852	SK-N-SH	brain:	n/a	chr5:41904593-41904602
30	GABPA	chr5:41903747-41904813	SK-N-SH	brain:	n/a	chr5:41904593-41904602
31	GABPA	chr5:41903781-41904764	MCF-7	breast:	n/a	chr5:41904593-41904602
32	GABPA	chr5:41903348-41904956	MCF-7	breast:	n/a	chr5:41904593-41904602
33	GATA3	chr5:41903790-41904617	T-47D	breast:	n/a	chr5:41904151-41904158
34	GTF2F1	chr5:41903677-41904959	Hela-S3	cervix:	n/a	n/a
35	HCFC1	chr5:41903266-41905374	Hela-S3	cervix:	n/a	n/a
36	HEY1	chr5:41903791-41904734	HepG2	liver:	n/a	chr5:41904597-41904612 chr5:41904392-41904407
37	HEY1	chr5:41903707-41904253	K562	blood:	n/a	n/a
38	IKZF1	chr5:41903494-41904473	GM12878	blood:	n/a	n/a
39	IRF1	chr5:41903439-41904630	K562	blood:	n/a	chr5:41903940-41903953 chr5:41904071-41904080 chr5:41903701-41903715 chr5:41904004-41904016 chr5:41903705-41903715 chr5:41903704-41903716 chr5:41903706-41903722
40	JUN	chr5:41903656-41904974	K562	blood:	n/a	chr5:41904592-41904601 chr5:41904588-41904597
41	KAP1	chr5:41903675-41904725	HEK293	kidney:	n/a	n/a
42	MAFK	chr5:41903515-41903713	HepG2	liver:	n/a	chr5:41903614-41903630
43	MAFK	chr5:41903412-41905176	K562	blood:	n/a	chr5:41903614-41903630
44	MAX	chr5:41903798-41904660	GM12878	blood:	n/a	chr5:41904435-41904444 chr5:41904435-41904444 chr5:41904433-41904446 chr5:41904435-41904444
45	MAX	chr5:41903761-41904885	MCF-7	breast:	n/a	chr5:41904435-41904444 chr5:41904435-41904444 chr5:41904433-41904446 chr5:41904435-41904444
46	MAX	chr5:41903534-41905171	NB4	blood:	n/a	chr5:41904435-41904444 chr5:41904435-41904444 chr5:41904433-41904446 chr5:41904435-41904444
47	MAX	chr5:41903721-41905033	A549	lung:	n/a	chr5:41904435-41904444 chr5:41904435-41904444 chr5:41904433-41904446 chr5:41904435-41904444
48	MAZ	chr5:41903714-41905090	K562	blood:	n/a	chr5:41904435-41904444 chr5:41904435-41904444 chr5:41904433-41904446 chr5:41904435-41904444
49	MTA3	chr5:41903400-41905205	GM12878	blood:	n/a	n/a
50	MXI1	chr5:41903450-41905459	SK-N-SH	brain:	n/a	chr5:41904434-41904443 chr5:41904436-41904445

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:41902083-41902133	T-47D	breast:	n/a
2	chr5:41902083-41902133	A549	lung:	n/a
3	chr5:41902083-41902133	SK-N-SH	brain:	n/a
4	chr5:41902083-41902133	HNPCEpiC	eye:	n/a
5	chr5:41902083-41902133	GM12878	blood:	n/a
6	chr5:41902083-41902133	HUVEC	blood vessel:	n/a
7	chr5:41902083-41902133	PFSK-1	brain:	n/a
8	chr5:41902083-41902133	HAEpiC	amniotic membrane:	n/a
9	chr5:41902083-41902133	GM06990	blood:	n/a
10	chr5:41902083-41902133	HCPEpiC	choroid plexus:	n/a
11	chr5:41902083-41902133	K562	blood:	n/a
12	chr5:41902083-41902133	NHBE	bronchial:	n/a
13	chr5:41902083-41902133	HCT-116	colon:	n/a
14	chr5:41902083-41902133	Hela-S3	cervix:	n/a
15	chr5:41902083-41902133	BJ	skin:	n/a
16	chr5:41902083-41902133	RPTEC	kidney:	n/a
17	chr5:41902083-41902133	ProgFib	skin:	n/a
18	chr5:41902083-41902133	HRE	kidney:	n/a
19	chr5:41902083-41902133	IMR90	lung:	fetal
20	chr5:41902083-41902133	HL-60	blood:	n/a
21	chr5:41902083-41902133	AG09319	gingival:	n/a
22	chr5:41902083-41902133	SK-N-SH_RA	brain:	n/a
23	chr5:41902083-41902133	SAEC	small airway:	n/a
24	chr5:41902083-41902133	CMK	blood:	n/a
25	chr5:41902083-41902133	AoSMC	blood vessel:	n/a
26	chr5:41902083-41902133	HRCEpiC	kidney:	n/a
27	chr5:41902083-41902133	AG10803	skin:	n/a
28	chr5:41902083-41902133	SKMC	muscle:	n/a
29	chr5:41902083-41902133	LNCaP	prostate:	n/a
30	chr5:41902083-41902133	HMEC	breast:	n/a
31	chr5:41902083-41902133	ovcar-3	ovarian:	n/a
32	chr5:41902083-41902133	MCF10A-Er-Src	breast:	n/a
33	chr5:41902083-41902133	PANC-1	pancreas:	n/a
34	chr5:41902083-41902133	HEK293	kidney:	embryo
35	chr5:41902083-41902133	HCM	heart:	n/a
36	chr5:41902083-41902133	HCF	heart:	n/a
37	chr5:41902083-41902133	Hepatocyte	liver:	n/a
38	chr5:41902083-41902133	MCF-7	breast:	n/a
39	chr5:41902083-41902133	GM12892	blood:	n/a
40	chr5:41902083-41902133	HIPEpiC	eye:	n/a
41	chr5:41902083-41902133	HEEpiC	esophagus:	n/a
42	chr5:41902083-41902133	BE2_C	brain:	n/a
43	chr5:41902083-41902133	HepG2	liver:	n/a
44	chr5:41902083-41902133	AG09309	skin:	n/a
45	chr5:41902083-41902133	Jurkat	blood:	n/a
46	chr5:41902083-41902133	H1-hESC	embryonic stem cell:	embryo
47	chr5:41902083-41902133	HPAEpiC	pulmonary alveolar:	n/a
48	chr5:41902083-41902133	SK-N-MC	brain:	n/a
49	chr5:41902083-41902133	ECC-1	luminal epithelium:	n/a
50	chr5:41902083-41902133	AG04449	skin:	fetal

No.	Distal block	Cell Line	Cell type
1	chr19:49121863..49123013-chr5:41903547..41904710,3	Hela-S3	cervix:
2	chr5:41903013..41905286-chr5:41924628..41927661,3	MCF-7	breast:
3	chr5:41865404..41878163-chr5:41900217..41908471,28	K562	blood:
4	chr5:41901802..41904243-chr5:43119565..43121157,2	K562	blood:
5	chr5:41903721..41904671-chr9:74383370..74384107,2	Hela-S3	cervix:
6	chr5:40833991..40836420-chr5:41902681..41904929,3	K562	blood:
7	chr5:41867500..41871930-chr5:41901815..41908844,17	K562	blood:
8	chr11:62558931..62559832-chr5:41903545..41904174,2	Hela-S3	cervix:
9	chr19:49990478..49991302-chr5:41903597..41904512,2	Hela-S3	cervix:
10	chr19:11200493..11201236-chr5:41903761..41904262,2	Hela-S3	cervix:
11	chr5:41903625..41904138-chr5:141228986..141229613,2	Hela-S3	cervix:
12	chr11:118965686..118966556-chr5:41903701..41904342,2	Hela-S3	cervix:
13	chr5:41903577..41904409-chr5:180673462..180674052,2	Hela-S3	cervix:
14	chr17:80186508..80187284-chr5:41903670..41904205,2	Hela-S3	cervix:
15	chr19:35739945..35740464-chr5:41903086..41904056,2	Hela-S3	cervix:
16	chr5:41869775..41870984-chr5:41903748..41904904,5	Hela-S3	cervix:

Variant related genes	Relation type
C5orf51	TF binding region
C5orf51	CpG island
ENSG00000063177	chromatin interactions
ENSG00000063176	chromatin interactions
ENSG00000151876	chromatin interactions
ENSG00000145592	chromatin interactions
ENSG00000172262	chromatin interactions
ENSG00000083720	chromatin interactions
ENSG00000105699	chromatin interactions
ENSG00000142541	chromatin interactions
ENSG00000233937	chromatin interactions
ENSG00000188486	chromatin interactions
ENSG00000168569	chromatin interactions
ENSG00000248668	chromatin interactions
ENSG00000141526	chromatin interactions
ENSG00000135048	chromatin interactions

Extended variants
information (count: 61 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:61 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs193165578	chr5:41901837-41901838	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs10064298	chr5:41901890-41901891	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs376375722	chr5:41901912-41901913	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs143597976	chr5:41901922-41901923	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs566715310	chr5:41901924-41901925	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs184737417	chr5:41901976-41901977	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs552119006	chr5:41901985-41901986	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs189524387	chr5:41901990-41901991	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs537919067	chr5:41902005-41902006	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs182026537	chr5:41902060-41902061	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs185228214	chr5:41902087-41902088	Weak transcription	CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs145983243	chr5:41902135-41902136	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs534844553	chr5:41902163-41902164	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs554872053	chr5:41902174-41902175	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs13358459	chr5:41902191-41902192	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs189642382	chr5:41902233-41902234	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs181235911	chr5:41902254-41902255	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs576857720	chr5:41902368-41902369	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs138883427	chr5:41902370-41902371	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs562692075	chr5:41902372-41902373	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs530139656	chr5:41902420-41902421	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs548326977	chr5:41902472-41902473	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs560106761	chr5:41902519-41902520	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs527555388	chr5:41902539-41902540	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs544043342	chr5:41902545-41902546	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs542501572	chr5:41902604-41902605	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs35194817	chr5:41902639-41902640	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs78222126	chr5:41902687-41902688	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs277411	chr5:41902711-41902712	Weak transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs186580747	chr5:41902725-41902726	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs367724937	chr5:41902753-41902754	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs556935569	chr5:41902835-41902836	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs529642923	chr5:41902890-41902891	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs537882027	chr5:41902891-41902892	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs549804468	chr5:41902911-41902912	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs568121522	chr5:41902934-41902935	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs535212417	chr5:41902955-41902956	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs572043053	chr5:41902986-41902987	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs141350705	chr5:41902992-41902993	Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
40	rs114902804	chr5:41903015-41903016	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
41	rs534489082	chr5:41903019-41903020	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
42	rs563410710	chr5:41903032-41903033	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
43	rs559025553	chr5:41903060-41903061	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
44	rs16872021	chr5:41903101-41903102	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs115959874	chr5:41903142-41903143	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
46	rs562554423	chr5:41903155-41903156	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
47	rs372091068	chr5:41903162-41903163	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
48	rs191387636	chr5:41903225-41903226	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
49	rs541983196	chr5:41903297-41903298	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
50	rs562241719	chr5:41903321-41903322	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:96)

Disease	PMID	Source
Cervical squamous cell carcinoma	21590768	CNVD
Non-small cell lung cancer	20864512	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	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
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	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
Esophageal adenocarcinoma	19417022	CNVD
Cancer	16751803	CNVD
Breast cancer	16608533	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Non-small cell lung cancer	19010865	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	21720365	CNVD
Lung cancer	18438408	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	19553991	CNVD
Lung cancer	19553991	CNVD
Melanoma	19553991	CNVD
Ovarian cancer	19553991	CNVD
Prostate cancer	19553991	CNVD
Non-small cell lung cancer	17156491	CNVD
Breast cancer	17133270	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Hepatocellular carcinoma	18929564	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	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	chr5:41899600-41903200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr5:41900000-41903800	Weak transcription	Gastric	stomach
3	chr5:41900400-41903600	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr5:41903000-41903200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr5:41903000-41903400	Enhancers	HepG2	liver
6	chr5:41903000-41903600	Active TSS	Fetal Brain Male	brain
7	chr5:41903000-41904000	Flanking Active TSS	Dnd41	blood
8	chr5:41903000-41905200	Active TSS	Brain Hippocampus Middle	brain
9	chr5:41903200-41903400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr5:41903200-41903400	Active TSS	Brain Anterior Caudate	brain
11	chr5:41903200-41903400	Enhancers	Fetal Kidney	kidney
12	chr5:41903200-41903400	Enhancers	Rectal Mucosa Donor 29	rectum
13	chr5:41903200-41903400	Enhancers	K562	blood
14	chr5:41903200-41903600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr5:41903200-41903600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr5:41903200-41903600	Enhancers	Fetal Stomach	stomach
17	chr5:41903200-41903600	Enhancers	Hela-S3	cervix
18	chr5:41903200-41905400	Active TSS	GM12878-XiMat	blood
19	chr5:41903400-41903600	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr5:41903400-41903600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr5:41903400-41903600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr5:41903400-41903600	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr5:41903400-41903600	Active TSS	Primary B cells from cord blood	blood
24	chr5:41903400-41903600	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr5:41903400-41903600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr5:41903400-41903600	Enhancers	Primary T helper naive cells from peripheral blood	blood
27	chr5:41903400-41903600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
28	chr5:41903400-41903600	Enhancers	Primary T helper cells PMA-I stimulated	--
29	chr5:41903400-41903600	Enhancers	Primary T helper cells fromperipheralblood	blood
30	chr5:41903400-41903600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
31	chr5:41903400-41903600	Enhancers	Primary T killer memory cells from peripheral blood	blood
32	chr5:41903400-41903600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr5:41903400-41903600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr5:41903400-41903600	Enhancers	Adipose Nuclei	Adipose
35	chr5:41903400-41903600	Enhancers	Brain Angular Gyrus	brain
36	chr5:41903400-41903600	Active TSS	Brain Inferior Temporal Lobe	brain
37	chr5:41903400-41903600	Enhancers	Duodenum Smooth Muscle	Duodenum
38	chr5:41903400-41903600	Active TSS	Skeletal Muscle Female	skeletal muscle
39	chr5:41903400-41903600	Active TSS	HSMMtube	muscle
40	chr5:41903400-41903600	Enhancers	NHEK	skin
41	chr5:41903400-41903800	Flanking Active TSS	Brain Anterior Caudate	brain
42	chr5:41903400-41903800	Flanking Active TSS	Fetal Brain Female	brain
43	chr5:41903400-41903800	Flanking Active TSS	Fetal Kidney	kidney
44	chr5:41903400-41903800	Flanking Active TSS	Fetal Lung	lung
45	chr5:41903400-41903800	Flanking Active TSS	NHDF-Ad	bronchial
46	chr5:41903400-41904000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
47	chr5:41903400-41904000	Flanking Active TSS	HepG2	liver
48	chr5:41903400-41904000	Flanking Active TSS	K562	blood
49	chr5:41903400-41904200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr5:41903400-41904800	Active TSS	Liver	Liver

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