Variant report

Variant	esv2829844
Chromosome Location	chr5:104373380-104650005
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	chr5:104565880-104566023	K562	blood:	n/a	n/a
2	ARID3A	chr5:104599139-104599705	K562	blood:	n/a	n/a
3	ARID3A	chr5:104574137-104574841	K562	blood:	n/a	n/a
4	ATF1	chr5:104599299-104599581	K562	blood:	n/a	n/a
5	ATF1	chr5:104566225-104566645	K562	blood:	n/a	n/a
6	ATF1	chr5:104373680-104373755	K562	blood:	n/a	n/a
7	ATF1	chr5:104475478-104475496	K562	blood:	n/a	n/a
8	BACH1	chr5:104541248-104541265	H1-hESC	embryonic stem cell:	n/a	n/a
9	BCL11A	chr5:104502865-104503067	H1-hESC	embryonic stem cell:	n/a	n/a
10	BRCA1	chr5:104488401-104488414	H1-hESC	embryonic stem cell:	n/a	n/a
11	BRCA1	chr5:104393511-104393580	GM12878	blood:	n/a	n/a
12	CBX3	chr5:104428357-104428592	K562	blood:	n/a	n/a
13	CBX3	chr5:104393083-104393385	K562	blood:	n/a	n/a
14	CBX3	chr5:104393078-104393434	K562	blood:	n/a	n/a
15	CCNT2	chr5:104566220-104566624	K562	blood:	n/a	n/a
16	CCNT2	chr5:104599218-104599525	K562	blood:	n/a	n/a
17	CEBPB	chr5:104432081-104432193	HepG2	liver:	n/a	n/a
18	CEBPB	chr5:104423402-104423724	HepG2	liver:	n/a	chr5:104423566-104423577
19	CEBPB	chr5:104437346-104437647	K562	blood:	n/a	chr5:104437523-104437534 chr5:104437523-104437532 chr5:104437523-104437532 chr5:104437521-104437534 chr5:104437521-104437532 chr5:104437523-104437532 chr5:104437523-104437532
20	CEBPB	chr5:104613163-104613370	HepG2	liver:	n/a	n/a
21	CEBPB	chr5:104391916-104392212	A549	lung:	n/a	chr5:104392017-104392026 chr5:104392042-104392059 chr5:104392015-104392026 chr5:104392045-104392056
22	CEBPB	chr5:104475600-104475772	HepG2	liver:	n/a	n/a
23	CEBPB	chr5:104475627-104475670	K562	blood:	n/a	n/a
24	CEBPB	chr5:104437422-104437706	ECC-1	luminal epithelium:	n/a	chr5:104437523-104437534 chr5:104437523-104437532 chr5:104437523-104437532 chr5:104437521-104437534 chr5:104437521-104437532 chr5:104437523-104437532 chr5:104437523-104437532
25	CEBPB	chr5:104423410-104423746	IMR90	lung:	n/a	chr5:104423566-104423577
26	CEBPB	chr5:104391872-104392206	HepG2	liver:	n/a	chr5:104392017-104392026 chr5:104392042-104392059 chr5:104392015-104392026 chr5:104392045-104392056
27	CEBPB	chr5:104437340-104437708	ECC-1	luminal epithelium:	n/a	chr5:104437523-104437534 chr5:104437523-104437532 chr5:104437523-104437532 chr5:104437521-104437534 chr5:104437521-104437532 chr5:104437523-104437532 chr5:104437523-104437532
28	CEBPB	chr5:104593448-104593544	K562	blood:	n/a	chr5:104593456-104593469 chr5:104593456-104593469 chr5:104593458-104593469 chr5:104593456-104593469 chr5:104593458-104593469
29	CEBPB	chr5:104510170-104510370	K562	blood:	n/a	chr5:104510228-104510239
30	CEBPB	chr5:104423448-104423672	K562	blood:	n/a	chr5:104423566-104423577
31	CEBPB	chr5:104437345-104437662	A549	lung:	n/a	chr5:104437523-104437534 chr5:104437523-104437532 chr5:104437523-104437532 chr5:104437521-104437534 chr5:104437521-104437532 chr5:104437523-104437532 chr5:104437523-104437532
32	CEBPB	chr5:104484312-104484512	H1-hESC	embryonic stem cell:	n/a	n/a
33	CEBPB	chr5:104437342-104437690	HepG2	liver:	n/a	chr5:104437523-104437534 chr5:104437523-104437532 chr5:104437523-104437532 chr5:104437521-104437534 chr5:104437521-104437532 chr5:104437523-104437532 chr5:104437523-104437532
34	CEBPB	chr5:104626968-104627293	HepG2	liver:	n/a	chr5:104627123-104627134
35	CEBPB	chr5:104437342-104437688	Hela-S3	cervix:	n/a	chr5:104437523-104437534 chr5:104437523-104437532 chr5:104437523-104437532 chr5:104437521-104437534 chr5:104437521-104437532 chr5:104437523-104437532 chr5:104437523-104437532
36	CEBPB	chr5:104534357-104534498	HepG2	liver:	n/a	chr5:104534396-104534407
37	CEBPB	chr5:104647437-104647690	K562	blood:	n/a	chr5:104647455-104647466 chr5:104647453-104647466 chr5:104647453-104647466
38	CEBPB	chr5:104423406-104423707	A549	lung:	n/a	chr5:104423566-104423577
39	CEBPB	chr5:104516185-104516507	IMR90	lung:	n/a	n/a
40	CEBPB	chr5:104437386-104437647	IMR90	lung:	n/a	chr5:104437523-104437534 chr5:104437523-104437532 chr5:104437523-104437532 chr5:104437521-104437534 chr5:104437521-104437532 chr5:104437523-104437532 chr5:104437523-104437532
41	CEBPB	chr5:104613257-104613341	K562	blood:	n/a	n/a
42	CEBPB	chr5:104437313-104437709	MCF-7	breast:	n/a	chr5:104437523-104437534 chr5:104437523-104437532 chr5:104437523-104437532 chr5:104437521-104437534 chr5:104437521-104437532 chr5:104437523-104437532 chr5:104437523-104437532
43	CEBPB	chr5:104575759-104576055	K562	blood:	n/a	chr5:104575897-104575908 chr5:104575896-104575907
44	CEBPB	chr5:104475581-104475765	H1-hESC	embryonic stem cell:	n/a	n/a
45	CEBPB	chr5:104485759-104485906	H1-hESC	embryonic stem cell:	n/a	n/a
46	CEBPB	chr5:104510149-104510395	H1-hESC	embryonic stem cell:	n/a	chr5:104510228-104510239
47	CEBPB	chr5:104526203-104526286	K562	blood:	n/a	n/a
48	CEBPB	chr5:104373830-104373968	HepG2	liver:	n/a	n/a
49	CEBPB	chr5:104485721-104485921	K562	blood:	n/a	n/a
50	CEBPB	chr5:104437246-104437795	MCF-7	breast:	n/a	chr5:104437523-104437534 chr5:104437523-104437532 chr5:104437523-104437532 chr5:104437521-104437534 chr5:104437521-104437532 chr5:104437523-104437532 chr5:104437523-104437532

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:104433849-104433899	LNCaP	prostate:	n/a
2	chr5:104435062-104435112	HCF	heart:	n/a
3	chr5:104435608-104435658	HPAEpiC	pulmonary alveolar:	n/a
4	chr5:104434827-104434877	AG09309	skin:	n/a
5	chr5:104435062-104435112	PANC-1	pancreas:	n/a
6	chr5:104435062-104435112	Caco-2	colon:	n/a
7	chr5:104434827-104434877	Jurkat	blood:	n/a
8	chr5:104435608-104435658	HAEpiC	amniotic membrane:	n/a
9	chr5:104434864-104434914	GM06990	blood:	n/a
10	chr5:104435608-104435658	Caco-2	colon:	n/a
11	chr5:104434827-104434877	MCF-7	breast:	n/a
12	chr5:104434827-104434877	Hepatocyte	liver:	n/a
13	chr5:104433849-104433899	AG04449	skin:	fetal
14	chr5:104435608-104435658	GM12878	blood:	n/a
15	chr5:104435608-104435658	HEK293	kidney:	embryo
16	chr5:104434827-104434877	HCM	heart:	n/a
17	chr5:104434827-104434877	SK-N-MC	brain:	n/a
18	chr5:104434827-104434877	ECC-1	luminal epithelium:	n/a
19	chr5:104434827-104434877	SK-N-SH_RA	brain:	n/a
20	chr5:104434827-104434877	GM12891	blood:	n/a
21	chr5:104434864-104434914	AG10803	skin:	n/a
22	chr5:104434827-104434877	HEK293	kidney:	embryo
23	chr5:104433849-104433899	IMR90	lung:	fetal
24	chr5:104435608-104435658	ovcar-3	ovarian:	n/a
25	chr5:104434827-104434877	SK-N-SH	brain:	n/a
26	chr5:104434864-104434914	SK-N-SH	brain:	n/a
27	chr5:104435608-104435658	GM12892	blood:	n/a
28	chr5:104434864-104434914	T-47D	breast:	n/a
29	chr5:104433849-104433899	SK-N-MC	brain:	n/a
30	chr5:104433849-104433899	MCF-7	breast:	n/a
31	chr5:104435608-104435658	HNPCEpiC	eye:	n/a
32	chr5:104434864-104434914	SKMC	muscle:	n/a
33	chr5:104435062-104435112	A549	lung:	n/a
34	chr5:104433849-104433899	GM06990	blood:	n/a
35	chr5:104434864-104434914	Hela-S3	cervix:	n/a
36	chr5:104435608-104435658	AG04450	lung:	fetal
37	chr5:104435608-104435658	HRCEpiC	kidney:	n/a
38	chr5:104435062-104435112	SK-N-MC	brain:	n/a
39	chr5:104433849-104433899	HMEC	breast:	n/a
40	chr5:104435062-104435112	HRCEpiC	kidney:	n/a
41	chr5:104435062-104435112	SAEC	small airway:	n/a
42	chr5:104435062-104435112	BE2_C	brain:	n/a
43	chr5:104434827-104434877	RPTEC	kidney:	n/a
44	chr5:104433849-104433899	RPTEC	kidney:	n/a
45	chr5:104435608-104435658	GM19239	blood:	n/a
46	chr5:104435062-104435112	BJ	skin:	n/a
47	chr5:104434827-104434877	HAEpiC	amniotic membrane:	n/a
48	chr5:104435062-104435112	NHBE	bronchial:	n/a
49	chr5:104434864-104434914	IMR90	lung:	fetal
50	chr5:104435062-104435112	HRPEpiC	eye:	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:104443161..104444832-chr5:104444978..104447101,2	MCF-7	breast:
2	chr5:104482838..104485793-chr5:104489379..104492370,3	MCF-7	breast:
3	chr5:104567163..104569932-chr5:104572220..104574679,2	MCF-7	breast:
4	chr5:104512964..104515332-chr5:104570864..104572424,2	K562	blood:
5	chr5:104649160..104650852-chr5:104651591..104654211,3	K562	blood:
6	chr5:104438251..104441149-chr5:104441695..104444269,2	K562	blood:
7	chr5:104565194..104566957-chr5:104571048..104573999,2	K562	blood:
8	chr5:104540117..104542340-chr5:104543485..104546477,2	MCF-7	breast:
9	chr5:104582906..104584797-chr5:104601356..104603170,2	K562	blood:
10	chr19:12903711..12905991-chr5:104578289..104580216,2	MCF-7	breast:
11	chr5:104423554..104425423-chr5:104426738..104428780,3	K562	blood:
12	chr5:104586940..104589611-chr5:104727738..104729575,2	K562	blood:
13	chr5:104545961..104548123-chr5:104549429..104551527,2	K562	blood:
14	chr5:104454743..104457659-chr5:104458109..104460411,2	MCF-7	breast:
15	chr5:104443161..104444832-chr5:104444978..104447101,2	MCF-7	breast:
16	chr5:104482838..104485793-chr5:104489379..104492370,3	MCF-7	breast:
17	chr5:104542507..104545042-chr5:104552566..104554250,2	K562	blood:
18	chr5:104540117..104542340-chr5:104543485..104546477,2	MCF-7	breast:
19	chr5:104370391..104371902-chr5:104374539..104376562,2	K562	blood:
20	chr5:104551002..104553954-chr5:104571477..104574357,2	MCF-7	breast:
21	chr5:104574990..104577042-chr5:104578460..104580211,2	K562	blood:
22	chr5:104542507..104545042-chr5:104552566..104554250,2	K562	blood:
23	chr5:104524711..104526370-chr5:104889242..104892104,2	K562	blood:
24	chr5:104565194..104566957-chr5:104571048..104573999,2	K562	blood:
25	chr5:104645770..104648035-chr5:104661663..104663662,2	MCF-7	breast:
26	chr5:104604624..104606834-chr5:104613480..104615859,2	K562	blood:
27	chr5:104604624..104606834-chr5:104613480..104615859,2	K562	blood:
28	chr5:104584886..104590168-chr5:104590478..104594256,4	K562	blood:
29	chr5:104545106..104548123-chr5:104549429..104551527,3	K562	blood:
30	chr5:104423554..104425423-chr5:104426738..104428780,3	K562	blood:
31	chr5:104545961..104548123-chr5:104549429..104551527,2	K562	blood:
32	chr5:104584886..104590168-chr5:104590478..104594256,4	K562	blood:
33	chr5:104545106..104548123-chr5:104549429..104551527,3	K562	blood:
34	chr5:104528561..104530726-chr5:104532311..104534213,2	K562	blood:
35	chr5:104576197..104577737-chr5:104582724..104585208,2	K562	blood:
36	chr5:104528561..104530726-chr5:104532311..104534213,2	K562	blood:
37	chr5:104438251..104441149-chr5:104441695..104444269,2	K562	blood:
38	chr5:104564496..104566595-chr5:104574532..104577348,2	K562	blood:
39	chr5:104512964..104515332-chr5:104570864..104572424,2	K562	blood:
40	chr5:104574990..104577042-chr5:104578460..104580211,2	K562	blood:
41	chr12:23105697..23106553-chr5:104539343..104540254,2	MCF-7	breast:
42	chr5:104454743..104457659-chr5:104458109..104460411,2	MCF-7	breast:
43	chr5:104564496..104566595-chr5:104574532..104577348,2	K562	blood:
44	chr5:104576197..104577737-chr5:104582724..104585208,2	K562	blood:
45	chr5:104582906..104584797-chr5:104601356..104603170,2	K562	blood:
46	chr5:104551002..104553954-chr5:104571477..104574357,2	MCF-7	breast:
47	chr5:104370391..104373072-chr5:104374539..104377725,3	K562	blood:
48	chr5:104567163..104569932-chr5:104572220..104574679,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NUDT12-7	chr5:104582013-104582067	NONHSAT103097
2	lnc-NUDT12-7	chr5:104581998-104582065	ENSG00000253584
3	lnc-C5orf30-8	chr5:104435174-104435799	NONHSAT103096
4	lnc-C5orf30-8	chr5:104435175-104435799	NR_000039

Variant related genes	Relation type
ENSG00000253584	TF binding region
RAB9BP1	TF binding region
ENSG00000253584	CpG island
RAB9BP1	CpG island
ENSG00000251574	chromatin interactions

Extended variants
information (count: 2853 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:2853 , 50 per page) page: 1 2 3 4 5 6 7 ... 58

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150780203	chr5:104376203-104376204	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs139198875	chr5:104376204-104376205	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs377657328	chr5:104376210-104376211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs538699247	chr5:104376214-104376215	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs552504077	chr5:104376276-104376277	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs374814790	chr5:104376293-104376294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs189291876	chr5:104376299-104376300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs537922114	chr5:104376304-104376305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs565640397	chr5:104376310-104376311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs573537157	chr5:104376340-104376341	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs180822937	chr5:104376344-104376345	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs76017494	chr5:104376350-104376351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs184667933	chr5:104376354-104376355	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs200400335	chr5:104376423-104376424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs564868683	chr5:104376424-104376425	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs189471238	chr5:104376471-104376472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs530207270	chr5:104376503-104376504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs73211615	chr5:104376519-104376520	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs530045848	chr5:104376531-104376532	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs560942681	chr5:104376535-104376536	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs144067185	chr5:104376536-104376537	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs181300234	chr5:104376560-104376561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs560633281	chr5:104376561-104376562	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs185721844	chr5:104376571-104376572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs4616867	chr5:104380211-104380212	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs36007749	chr5:104380232-104380233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs78339395	chr5:104380241-104380242	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs398093628	chr5:104380242-104380243	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs377004948	chr5:104380243-104380244	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs544209125	chr5:104380252-104380253	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs577982423	chr5:104380268-104380269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs543837404	chr5:104380298-104380299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs191560047	chr5:104380305-104380306	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs62366431	chr5:104380344-104380345	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs138634905	chr5:104380346-104380347	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs528781394	chr5:104380372-104380373	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs374539945	chr5:104380381-104380382	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs113307045	chr5:104380409-104380410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs377609274	chr5:104380412-104380413	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs184027998	chr5:104380424-104380425	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs374266349	chr5:104380434-104380435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs374338600	chr5:104380466-104380467	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs60088103	chr5:104380467-104380468	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs534825049	chr5:104380490-104380491	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs540993293	chr5:104380542-104380543	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs564401947	chr5:104380573-104380574	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs188715588	chr5:104380574-104380575	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs376992659	chr5:104380584-104380585	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs149331018	chr5:104380585-104380586	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs536840880	chr5:104388024-104388025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

Disease	PMID	Source
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
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	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
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
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Colorectal cancer	16774939	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	21509527	CNVD
Breast cancer	16608533	CNVD
Obesity	20622171	CNVD
Schizophrenia	21346763	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Schizophrenia	23813976	CNVD
Lung cancer	16773561	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:104376200-104376600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr5:104380200-104380600	Enhancers	Fetal Brain Male	brain
3	chr5:104388000-104392400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr5:104389600-104390600	Enhancers	Fetal Lung	lung
5	chr5:104390200-104390800	Active TSS	Fetal Brain Male	brain
6	chr5:104392400-104393200	ZNF genes & repeats	Esophagus	oesophagus
7	chr5:104392400-104394000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr5:104392400-104394000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr5:104392400-104394000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
10	chr5:104398800-104402000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr5:104421400-104421600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr5:104421600-104422200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr5:104422400-104422600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr5:104422600-104423600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr5:104423600-104425000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr5:104424000-104424400	Enhancers	Primary hematopoietic stem cells	blood
17	chr5:104425000-104428000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr5:104428000-104428200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr5:104437400-104438000	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr5:104446800-104447200	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr5:104451200-104451400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
22	chr5:104453600-104455000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr5:104459600-104460200	Enhancers	Pancreatic Islets	Pancreatic Islet
24	chr5:104468200-104468800	Enhancers	Brain Germinal Matrix	brain
25	chr5:104469400-104470600	Enhancers	Liver	Liver
26	chr5:104472600-104473200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr5:104473200-104474200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr5:104474200-104474400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr5:104485600-104486600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr5:104486000-104486600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr5:104488800-104489000	Enhancers	Fetal Lung	lung
32	chr5:104489000-104490800	Weak transcription	Fetal Lung	lung
33	chr5:104490800-104491200	ZNF genes & repeats	Fetal Lung	lung
34	chr5:104492600-104492800	ZNF genes & repeats	Aorta	Aorta
35	chr5:104492800-104494200	Weak transcription	Aorta	Aorta
36	chr5:104494000-104495600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr5:104503600-104504400	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr5:104503800-104504400	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr5:104503800-104504600	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr5:104503800-104504600	Enhancers	Hela-S3	cervix
41	chr5:104504400-104505400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr5:104505800-104506000	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr5:104512000-104512400	Active TSS	Breast Myoepithelial Primary Cells	Breast
44	chr5:104541800-104542600	Enhancers	Brain Germinal Matrix	brain
45	chr5:104550000-104550400	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr5:104550200-104550600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr5:104550200-104550600	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr5:104550200-104550600	Enhancers	iPS-20b Cell Line	embryonic stem cell
49	chr5:104550200-104550800	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr5:104550400-104550600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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