Variant report

Variant	nsv1022638
Chromosome Location	chr5:103789145-104682389
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2006)
CpG islands
(count:856)
Chromatin interactive
region (count:135)
LncRNA
region (count:52)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2006 , 50 per page) page: 1 2 3 4 5 6 7 ... 41

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	chr5:104255114-104255149	HepG2	liver:	n/a	n/a
4	ARID3A	chr5:104369169-104369636	K562	blood:	n/a	n/a
5	ARID3A	chr5:104574137-104574841	K562	blood:	n/a	n/a
6	ATF1	chr5:104566225-104566645	K562	blood:	n/a	n/a
7	ATF1	chr5:104373680-104373755	K562	blood:	n/a	n/a
8	ATF1	chr5:104475478-104475496	K562	blood:	n/a	n/a
9	ATF1	chr5:103896403-103896458	K562	blood:	n/a	n/a
10	ATF1	chr5:104599299-104599581	K562	blood:	n/a	n/a
11	ATF1	chr5:104370024-104370214	K562	blood:	n/a	n/a
12	BACH1	chr5:104541248-104541265	H1-hESC	embryonic stem cell:	n/a	n/a
13	BACH1	chr5:103964656-103964967	K562	blood:	n/a	chr5:103964798-103964812
14	BACH1	chr5:103964650-103964973	H1-hESC	embryonic stem cell:	n/a	chr5:103964798-103964812
15	BACH1	chr5:104223199-104223207	H1-hESC	embryonic stem cell:	n/a	n/a
16	BATF	chr5:104087774-104088008	GM12878	blood:	n/a	chr5:104087867-104087878
17	BATF	chr5:104087746-104087944	GM12878	blood:	n/a	chr5:104087867-104087878
18	BCL11A	chr5:104502865-104503067	H1-hESC	embryonic stem cell:	n/a	n/a
19	BCL3	chr5:103874277-103874603	GM12878	blood:	n/a	n/a
20	BHLHE40	chr5:104369418-104369675	K562	blood:	n/a	n/a
21	BRCA1	chr5:104246667-104246983	Hela-S3	cervix:	n/a	n/a
22	BRCA1	chr5:104488401-104488414	H1-hESC	embryonic stem cell:	n/a	n/a
23	BRCA1	chr5:104393511-104393580	GM12878	blood:	n/a	n/a
24	BRCA1	chr5:104317800-104317805	Hela-S3	cervix:	n/a	n/a
25	BRCA1	chr5:104325896-104325918	Hela-S3	cervix:	n/a	n/a
26	CBX3	chr5:103848519-103849550	HCT-116	colon:	n/a	n/a
27	CBX3	chr5:103930493-103930963	HCT-116	colon:	n/a	n/a
28	CBX3	chr5:104393078-104393434	K562	blood:	n/a	n/a
29	CBX3	chr5:104393083-104393385	K562	blood:	n/a	n/a
30	CBX3	chr5:104428357-104428592	K562	blood:	n/a	n/a
31	CBX3	chr5:104370642-104370939	K562	blood:	n/a	n/a
32	CBX3	chr5:103848462-103849591	HCT-116	colon:	n/a	n/a
33	CCNT2	chr5:104306891-104307038	K562	blood:	n/a	n/a
34	CCNT2	chr5:104599218-104599525	K562	blood:	n/a	n/a
35	CCNT2	chr5:104566220-104566624	K562	blood:	n/a	n/a
36	CCNT2	chr5:104369421-104369754	K562	blood:	n/a	chr5:104369561-104369581
37	CCNT2	chr5:104370115-104370461	K562	blood:	n/a	n/a
38	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
39	CEBPB	chr5:104177422-104177540	K562	blood:	n/a	n/a
40	CEBPB	chr5:104575759-104576055	K562	blood:	n/a	chr5:104575897-104575908 chr5:104575896-104575907
41	CEBPB	chr5:104593448-104593544	K562	blood:	n/a	chr5:104593456-104593469 chr5:104593456-104593469 chr5:104593458-104593469 chr5:104593456-104593469 chr5:104593458-104593469
42	CEBPB	chr5:104195064-104195524	A549	lung:	n/a	chr5:104195252-104195263
43	CEBPB	chr5:104516185-104516507	IMR90	lung:	n/a	n/a
44	CEBPB	chr5:104136186-104136537	K562	blood:	n/a	chr5:104136365-104136376 chr5:104136380-104136391
45	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
46	CEBPB	chr5:104136061-104136624	A549	lung:	n/a	chr5:104136365-104136376 chr5:104136380-104136391
47	CEBPB	chr5:103829760-103830095	IMR90	lung:	n/a	chr5:103829919-103829930 chr5:103829919-103829932 chr5:103829919-103829932
48	CEBPB	chr5:103959586-103959878	HepG2	liver:	n/a	chr5:103959714-103959725
49	CEBPB	chr5:103848858-103850120	Hela-S3	cervix:	n/a	chr5:103849783-103849796 chr5:103849371-103849384 chr5:103850043-103850056
50	CEBPB	chr5:103887442-103887732	ECC-1	luminal epithelium:	n/a	chr5:103887660-103887673

(count:856 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:103820591-103820641	BE2_C	brain:	n/a
2	chr5:103876192-103876242	U87	brain:	n/a
3	chr5:103820591-103820641	BE2_C	brain:	n/a
4	chr5:103876192-103876242	U87	brain:	n/a
5	chr5:103942397-103942447	SK-N-SH	brain:	n/a
6	chr5:104434864-104434914	MCF-7	breast:	n/a
7	chr5:103829253-103829303	H1-hESC	embryonic stem cell:	embryo
8	chr5:103829253-103829303	NHBE	bronchial:	n/a
9	chr5:103876192-103876242	NT2-D1	testis:	n/a
10	chr5:104434827-104434877	SK-N-MC	brain:	n/a
11	chr5:103849273-103849323	HRPEpiC	eye:	n/a
12	chr5:103829253-103829303	K562	blood:	n/a
13	chr5:104433849-104433899	GM06990	blood:	n/a
14	chr5:104433849-104433899	ovcar-3	ovarian:	n/a
15	chr5:104265747-104265797	NH-A	brain:	n/a
16	chr5:103907009-103907059	HRE	kidney:	n/a
17	chr5:104435608-104435658	HCM	heart:	n/a
18	chr5:103876192-103876242	IMR90	lung:	fetal
19	chr5:103876192-103876242	SKMC	muscle:	n/a
20	chr5:103820591-103820641	PrEC	prostate:	n/a
21	chr5:104435608-104435658	HRPEpiC	eye:	n/a
22	chr5:104434827-104434877	HPAEpiC	pulmonary alveolar:	n/a
23	chr5:103876192-103876242	ECC-1	luminal epithelium:	n/a
24	chr5:104345171-104345221	HL-60	blood:	n/a
25	chr5:103829253-103829303	IMR90	lung:	fetal
26	chr5:104435062-104435112	BE2_C	brain:	n/a
27	chr5:103849273-103849323	SAEC	small airway:	n/a
28	chr5:104434864-104434914	SKMC	muscle:	n/a
29	chr5:103820591-103820641	NH-A	brain:	n/a
30	chr5:103876192-103876242	HRCEpiC	kidney:	n/a
31	chr5:104090236-104090286	GM12892	blood:	n/a
32	chr5:104433849-104433899	Caco-2	colon:	n/a
33	chr5:103876192-103876242	PFSK-1	brain:	n/a
34	chr5:104090236-104090286	NH-A	brain:	n/a
35	chr5:104435608-104435658	NH-A	brain:	n/a
36	chr5:103942397-103942447	MCF-7	breast:	n/a
37	chr5:103907009-103907059	NT2-D1	testis:	n/a
38	chr5:104090236-104090286	Hela-S3	cervix:	n/a
39	chr5:104433849-104433899	PFSK-1	brain:	n/a
40	chr5:103849273-103849323	HNPCEpiC	eye:	n/a
41	chr5:104433849-104433899	U87	brain:	n/a
42	chr5:103849273-103849323	T-47D	breast:	n/a
43	chr5:103849273-103849323	HEK293	kidney:	embryo
44	chr5:104435062-104435112	NT2-D1	testis:	n/a
45	chr5:104265747-104265797	AG10803	skin:	n/a
46	chr5:103876192-103876242	HPAEpiC	pulmonary alveolar:	n/a
47	chr5:104434864-104434914	HEK293	kidney:	embryo
48	chr5:104265747-104265797	Jurkat	blood:	n/a
49	chr5:104434827-104434877	GM06990	blood:	n/a
50	chr5:104435062-104435112	ECC-1	luminal epithelium:	n/a

(count:135 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr5:104574990..104577042-chr5:104578460..104580211,2	K562	blood:
2	chr5:103875480..103877892-chr5:103901637..103904578,2	MCF-7	breast:
3	chr5:104091669..104093962-chr5:104097846..104099466,2	MCF-7	breast:
4	chr5:104542507..104545042-chr5:104552566..104554250,2	K562	blood:
5	chr5:104248370..104250240-chr5:104261197..104262793,2	MCF-7	breast:
6	chr17:57921408..57924296-chr5:104291652..104294224,2	MCF-7	breast:
7	chr5:103982040..103982621-chr5:104952113..104952873,2	MCF-7	breast:
8	chr5:103950660..103952781-chr5:103982477..103984816,2	MCF-7	breast:
9	chr5:103761403..103764401-chr5:103998452..104000157,2	MCF-7	breast:
10	chr5:103808557..103811668-chr5:103812642..103816209,3	MCF-7	breast:
11	chr5:104086946..104088891-chr5:104090048..104092847,2	MCF-7	breast:
12	chr5:104086946..104088891-chr5:104090048..104092847,2	MCF-7	breast:
13	chr5:103984998..103987505-chr5:103990796..103992380,2	MCF-7	breast:
14	chr5:104604624..104606834-chr5:104613480..104615859,2	K562	blood:
15	chr5:104277822..104279427-chr5:104300449..104302157,2	MCF-7	breast:
16	chr5:104302225..104304920-chr5:104306783..104309637,2	MCF-7	breast:
17	chr5:104528561..104530726-chr5:104532311..104534213,2	K562	blood:
18	chr5:104226367..104227906-chr5:104228376..104230821,2	MCF-7	breast:
19	chr5:103812785..103815361-chr5:104049597..104051659,2	K562	blood:
20	chr5:104582906..104584797-chr5:104601356..104603170,2	K562	blood:
21	chr5:103875480..103877892-chr5:103901637..103904578,2	MCF-7	breast:
22	chr5:104576197..104577737-chr5:104582724..104585208,2	K562	blood:
23	chr5:104586940..104589611-chr5:104727738..104729575,2	K562	blood:
24	chr5:104270441..104272983-chr5:104273696..104275223,2	K562	blood:
25	chr5:104443161..104444832-chr5:104444978..104447101,2	MCF-7	breast:
26	chr5:104528561..104530726-chr5:104532311..104534213,2	K562	blood:
27	chr5:104649160..104650852-chr5:104651591..104654211,3	K562	blood:
28	chr5:104033301..104035974-chr5:104038075..104040842,2	MCF-7	breast:
29	chr5:104545106..104548123-chr5:104549429..104551527,3	K562	blood:
30	chr5:104660610..104663385-chr5:104663843..104665843,2	K562	blood:
31	chr5:104246978..104249905-chr5:104251799..104254646,2	MCF-7	breast:
32	chr5:103843512..103846064-chr5:104654970..104657716,2	K562	blood:
33	chr5:104223049..104225474-chr5:104235768..104238593,2	MCF-7	breast:
34	chr5:104028054..104030764-chr5:104032138..104034804,2	K562	blood:
35	chr5:104567163..104569932-chr5:104572220..104574679,2	MCF-7	breast:
36	chr5:104604624..104606834-chr5:104613480..104615859,2	K562	blood:
37	chr5:104645770..104648035-chr5:104661663..104663662,2	MCF-7	breast:
38	chr5:103843512..103846064-chr5:104654970..104657716,2	K562	blood:
39	chr5:104308244..104309781-chr5:104310392..104313289,2	K562	blood:
40	chr5:103897573..103899944-chr5:103901473..103904077,2	K562	blood:
41	chr5:104369743..104372595-chr5:104912590..104914639,2	K562	blood:
42	chr5:104574990..104577042-chr5:104578460..104580211,2	K562	blood:
43	chr5:103794931..103796667-chr5:103798124..103800738,2	K562	blood:
44	chr5:104234931..104236476-chr5:104238248..104241105,2	MCF-7	breast:
45	chr5:104246978..104249905-chr5:104251799..104254646,2	MCF-7	breast:
46	chr5:104584886..104590168-chr5:104590478..104594256,4	K562	blood:
47	chr5:104028054..104030764-chr5:104032138..104034804,2	K562	blood:
48	chr5:103950660..103952781-chr5:103982477..103984816,2	MCF-7	breast:
49	chr5:104239889..104241844-chr5:104241951..104244541,2	MCF-7	breast:
50	chr5:104649160..104650852-chr5:104651591..104654211,3	K562	blood:

(count:52 , 50 per page) page: 1 2

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NUDT12-5	chr5:104109434-104109524	NONHSAT103081
2	lnc-NUDT12-7	chr5:104315392-104315477	ENSG00000253584
3	lnc-C5orf30-3	chr5:104109342-104109441	ENSG00000253776
4	lnc-NUDT12-5	chr5:104098981-104099084	NONHSAT103082
5	lnc-NUDT12-5	chr5:103966237-103966357	ENSG00000251574
6	lnc-NUDT12-5	chr5:104052350-104052364	NONHSAT103082
7	lnc-NUDT12-5	chr5:104080291-104080310	NONHSAT103088
8	lnc-NUDT12-5	chr5:104074955-104075113	ENSG00000251574
9	lnc-NUDT12-5	chr5:104109434-104109523	ENSG00000251574
10	lnc-NUDT12-5	chr5:104109314-104109485	ENSG00000251574
11	lnc-NUDT12-7	chr5:104344562-104344612	ENSG00000253584
12	lnc-NUDT12-5	chr5:104098981-104099084	ENSG00000251574
13	lnc-C5orf30-2	chr5:104079736-104079888	XLOC_004497
14	lnc-C5orf30-8	chr5:104435174-104435799	NONHSAT103096
15	lnc-NUDT12-5	chr5:104079393-104079555	ENSG00000251574
16	lnc-NUDT12-5	chr5:104074962-104075113	ENSG00000251574
17	lnc-NUDT12-5	chr5:104074998-104075113	ENSG00000251574
18	lnc-NUDT12-5	chr5:104109314-104109361	ENSG00000251574
19	lnc-NUDT12-5	chr5:104098981-104099084	ENSG00000251574
20	lnc-NUDT12-5	chr5:104098981-104099084	NONHSAT103081
21	lnc-NUDT12-7	chr5:104582013-104582067	NONHSAT103097
22	lnc-C5orf30-3	chr5:104135007-104135473	ENSG00000253776
23	lnc-NUDT12-5	chr5:104052350-104052364	NONHSAT103081
24	lnc-NUDT12-5	chr5:104098932-104099084	ENSG00000251574
25	lnc-C5orf30-8	chr5:104435175-104435799	NR_000039
26	lnc-NUDT12-6	chr5:104222559-104222676	ENSG00000251574
27	lnc-NUDT12-7	chr5:104311375-104311586	ENSG00000253584
28	lnc-NUDT12-13	chr5:104103132-104103235	l_2988_chr5:104103131-104137422_testes
29	lnc-NUDT12-5	chr5:104082242-104082310	ENSG00000251574
30	lnc-NUDT12-5	chr5:104075198-104075336	ENSG00000251574
31	lnc-NUDT12-7	chr5:104581998-104582065	ENSG00000253584
32	lnc-NUDT12-6	chr5:104222559-104222676	ENSG00000251574
33	lnc-NUDT12-5	chr5:104098981-104099084	ENSG00000251574
34	lnc-NUDT12-6	chr5:103819905-103820353	ENSG00000251574
35	lnc-NUDT12-5	chr5:104109314-104109524	NONHSAT103082
36	lnc-NUDT12-5	chr5:104079736-104079892	ENSG00000251574
37	lnc-NUDT12-5	chr5:104081064-104081147	NONHSAT103088
38	lnc-NUDT12-5	chr5:104075198-104075336	ENSG00000251574
39	lnc-NUDT12-5	chr5:104075198-104075242	ENSG00000251574
40	lnc-NUDT12-7	chr5:104253193-104253599	ENSG00000253584
41	lnc-NUDT12-5	chr5:104098981-104099084	ENSG00000251574
42	lnc-NUDT12-7	chr5:104344562-104344618	ENSG00000253584
43	lnc-NUDT12-5	chr5:103966088-103966357	ENSG00000251574
44	lnc-NUDT12-6	chr5:104246363-104246434	ENSG00000251574
45	lnc-NUDT12-5	chr5:104109314-104109492	ENSG00000251574
46	lnc-NUDT12-5	chr5:104072462-104072616	ENSG00000251574
47	lnc-NUDT12-13	chr5:104118423-104118445	l_2988_chr5:104103131-104137422_testes
48	lnc-NUDT12-5	chr5:104109314-104109397	ENSG00000251574
49	lnc-NUDT12-7	chr5:104308988-104309359	ENSG00000253584
50	lnc-NUDT12-5	chr5:104109314-104109524	NONHSAT103088

No data

Variant related genes	Relation type
ENSG00000253776	TF binding region
RNU6-334P	TF binding region
ENSG00000253584	TF binding region
ENSG00000251574	TF binding region
RAB9BP1	TF binding region
ENSG00000253776	CpG island
RNU6-334P	CpG island
ENSG00000253584	CpG island
ENSG00000251574	CpG island
RAB9BP1	CpG island
ENSG00000112874	chromatin interactions
ENSG00000251574	chromatin interactions
CREB3L2	miRNA target sites

Extended variants
information (count: 10633 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:10633 , 50 per page) page: 1 2 3 4 5 6 7 ... 213

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529694741	chr5:103789163-103789164	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs564183942	chr5:103789179-103789180	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs376825651	chr5:103789202-103789203	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs143548425	chr5:103789203-103789204	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs532396031	chr5:103789213-103789214	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs187075602	chr5:103789252-103789253	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs568684298	chr5:103789303-103789304	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs531708705	chr5:103789315-103789316	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs13164158	chr5:103789341-103789342	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs568161098	chr5:103789356-103789357	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs191567381	chr5:103789376-103789377	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs184592752	chr5:103789379-103789380	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs554094636	chr5:103789453-103789454	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs2028527	chr5:103789492-103789493	Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs138149711	chr5:103789521-103789522	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs556494229	chr5:103789546-103789547	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs576692522	chr5:103789572-103789573	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs145072944	chr5:103819406-103819407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs67579445	chr5:103819407-103819408	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs386404611	chr5:103819410-103819411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs10650153	chr5:103819413-103819414	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs188860324	chr5:103819515-103819516	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs534381391	chr5:103819519-103819520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs546451935	chr5:103819543-103819544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs571855875	chr5:103819560-103819561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs555040549	chr5:103819576-103819577	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs563059869	chr5:103819577-103819578	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs530670343	chr5:103819579-103819580	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs550406367	chr5:103819585-103819586	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs576354513	chr5:103819611-103819612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs557122193	chr5:103819629-103819630	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs529671034	chr5:103819640-103819641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs192445896	chr5:103819679-103819680	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs370963688	chr5:103819687-103819688	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs566465728	chr5:103819721-103819722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs117764825	chr5:103819722-103819723	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs142581424	chr5:103819731-103819732	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs568717038	chr5:103819740-103819741	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs558943246	chr5:103819770-103819771	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs150925334	chr5:103819810-103819811	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs554783307	chr5:103819831-103819832	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs574850322	chr5:103819882-103819883	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs184667196	chr5:103819959-103819960	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
44	rs200440345	chr5:103819979-103819980	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
45	rs541240187	chr5:103819985-103819986	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
46	rs554118933	chr5:103820015-103820016	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
47	rs577650015	chr5:103820048-103820049	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
48	rs140729818	chr5:103820143-103820144	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
49	rs563128144	chr5:103820151-103820152	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
50	rs576719032	chr5:103820211-103820212	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	21346763	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Lung cancer	16773561	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD

Chromatin state (count:587 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:103787600-103789400	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr5:103787600-103789600	Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr5:103788800-103789600	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr5:103819400-103820200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr5:103819400-103820600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr5:103819600-103820200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr5:103819600-103820400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr5:103819600-103820400	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr5:103819600-103820400	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr5:103819600-103820400	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr5:103819800-103820200	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr5:103820000-103820400	Enhancers	H9 Cell Line	embryonic stem cell
13	chr5:103820000-103820400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr5:103820400-103830600	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr5:103827400-103827800	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr5:103827800-103828200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr5:103828000-103828200	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr5:103828200-103828400	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr5:103828200-103828400	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr5:103828200-103828800	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr5:103828400-103829600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr5:103828400-103830000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr5:103828800-103830800	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr5:103828800-103831000	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr5:103829200-103829600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr5:103829200-103831000	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr5:103829400-103830800	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr5:103829400-103831000	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr5:103829600-103831000	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr5:103829600-103834000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr5:103830000-103830200	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr5:103830000-103830800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr5:103830200-103830600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr5:103830600-103830800	Enhancers	H9 Cell Line	embryonic stem cell
35	chr5:103830600-103831000	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr5:103833600-103834000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr5:103834000-103834400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr5:103834000-103834400	Enhancers	HUVEC	blood vessel
39	chr5:103834200-103834600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr5:103847800-103848400	Enhancers	NH-A	brain
41	chr5:103847800-103849800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr5:103848200-103848400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr5:103848200-103848600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr5:103848200-103850000	Enhancers	HUVEC	blood vessel
45	chr5:103848200-103850000	Enhancers	Osteobl	bone
46	chr5:103848200-103850600	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr5:103848400-103848600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr5:103848400-103849000	Flanking Active TSS	NH-A	brain
49	chr5:103848400-103849200	Enhancers	Colon Smooth Muscle	Colon
50	chr5:103848400-103849600	Enhancers	NHDF-Ad	bronchial

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