Variant report

Variant	esv3517005
Chromosome Location	chr19:37193712-37364110
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1958)
CpG islands
(count:3418)
Chromatin interactive
region (count:70)
LncRNA
region (count:34)
Mature miRNA
region (count: 0)
miRNA target
sites (count:2)

(count:1958 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr19:37340907-37341297	HepG2	liver:	n/a	n/a
2	ARID3A	chr19:37262657-37262874	K562	blood:	n/a	n/a
3	ARID3A	chr19:37328527-37329626	HepG2	liver:	n/a	n/a
4	ATF1	chr19:37262612-37263076	K562	blood:	n/a	n/a
5	ATF1	chr19:37328824-37329485	K562	blood:	n/a	n/a
6	ATF1	chr19:37263636-37264165	K562	blood:	n/a	n/a
7	ATF2	chr19:37288313-37288853	H1-hESC	embryonic stem cell:	n/a	n/a
8	ATF2	chr19:37288150-37288903	GM12878	blood:	n/a	n/a
9	ATF2	chr19:37288266-37288826	H1-hESC	embryonic stem cell:	n/a	n/a
10	ATF2	chr19:37341530-37341899	H1-hESC	embryonic stem cell:	n/a	n/a
11	ATF2	chr19:37262497-37262875	H1-hESC	embryonic stem cell:	n/a	n/a
12	ATF2	chr19:37262450-37262871	H1-hESC	embryonic stem cell:	n/a	n/a
13	ATF2	chr19:37328843-37329475	GM12878	blood:	n/a	n/a
14	ATF2	chr19:37288349-37288854	GM12878	blood:	n/a	n/a
15	ATF2	chr19:37328799-37329407	GM12878	blood:	n/a	n/a
16	ATF3	chr19:37210371-37211193	A549	lung:	n/a	n/a
17	BACH1	chr19:37329030-37329437	H1-hESC	embryonic stem cell:	n/a	n/a
18	BACH1	chr19:37288340-37288738	H1-hESC	embryonic stem cell:	n/a	n/a
19	BACH1	chr19:37340771-37342363	H1-hESC	embryonic stem cell:	n/a	n/a
20	BACH1	chr19:37263240-37263874	H1-hESC	embryonic stem cell:	n/a	n/a
21	BACH1	chr19:37238791-37239110	H1-hESC	embryonic stem cell:	n/a	n/a
22	BATF	chr19:37328877-37329423	GM12878	blood:	n/a	n/a
23	BATF	chr19:37329019-37329346	GM12878	blood:	n/a	n/a
24	BATF	chr19:37340499-37340785	GM12878	blood:	n/a	n/a
25	BCL11A	chr19:37338953-37339190	GM12878	blood:	n/a	n/a
26	BCLAF1	chr19:37340487-37340876	GM12878	blood:	n/a	n/a
27	BCLAF1	chr19:37263586-37264216	GM12878	blood:	n/a	chr19:37263827-37263836 chr19:37263685-37263694
28	BCLAF1	chr19:37340807-37342313	GM12878	blood:	n/a	n/a
29	BCLAF1	chr19:37328768-37329490	GM12878	blood:	n/a	chr19:37328976-37328984
30	BCLAF1	chr19:37328619-37329574	GM12878	blood:	n/a	chr19:37328976-37328984
31	BCLAF1	chr19:37263431-37264244	GM12878	blood:	n/a	chr19:37263827-37263836 chr19:37263534-37263543 chr19:37263685-37263694
32	BHLHE40	chr19:37328961-37329263	K562	blood:	n/a	chr19:37329058-37329074
33	BHLHE40	chr19:37263544-37264295	GM12878	blood:	n/a	n/a
34	BHLHE40	chr19:37262602-37262976	K562	blood:	n/a	n/a
35	BHLHE40	chr19:37263465-37264220	K562	blood:	n/a	n/a
36	BHLHE40	chr19:37340497-37342133	GM12878	blood:	n/a	n/a
37	BHLHE40	chr19:37329976-37330000	K562	blood:	n/a	n/a
38	BHLHE40	chr19:37330068-37330070	A549	lung:	n/a	n/a
39	BHLHE40	chr19:37328717-37329498	GM12878	blood:	n/a	chr19:37329058-37329074
40	BHLHE40	chr19:37288254-37288650	GM12878	blood:	n/a	n/a
41	BHLHE40	chr19:37262281-37262587	GM12878	blood:	n/a	n/a
42	BRCA1	chr19:37340791-37342011	H1-hESC	embryonic stem cell:	n/a	chr19:37341729-37341738
43	BRCA1	chr19:37263506-37264050	HepG2	liver:	n/a	chr19:37263749-37263758
44	BRCA1	chr19:37328954-37329755	HepG2	liver:	n/a	n/a
45	BRCA1	chr19:37342206-37342225	GM12878	blood:	n/a	n/a
46	BRCA1	chr19:37288417-37288862	H1-hESC	embryonic stem cell:	n/a	chr19:37288775-37288782
47	BRCA1	chr19:37340977-37342008	HepG2	liver:	n/a	chr19:37341729-37341738
48	BRCA1	chr19:37263575-37264411	GM12878	blood:	n/a	chr19:37263749-37263758
49	BRCA1	chr19:37288525-37288715	GM12878	blood:	n/a	n/a
50	BRCA1	chr19:37328965-37329531	H1-hESC	embryonic stem cell:	n/a	n/a

(count:3418 , 50 per page) page: 1 2 3 4 5 6 7 ... 69

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:37329498-37329548	HAEpiC	amniotic membrane:	n/a
2	chr19:37328842-37328892	GM12878	blood:	n/a
3	chr19:37329498-37329548	HAEpiC	amniotic membrane:	n/a
4	chr19:37328842-37328892	GM12878	blood:	n/a
5	chr19:37329760-37329810	SKMC	muscle:	n/a
6	chr19:37329381-37329431	AG10803	skin:	n/a
7	chr19:37329381-37329431	AG04450	lung:	fetal
8	chr19:37341870-37341920	HCT-116	colon:	n/a
9	chr19:37340694-37340744	HUVEC	blood vessel:	n/a
10	chr19:37344430-37344480	GM12878	blood:	n/a
11	chr19:37341373-37341423	CMK	blood:	n/a
12	chr19:37341261-37341311	AoSMC	blood vessel:	n/a
13	chr19:37262611-37262661	HEK293	kidney:	embryo
14	chr19:37288291-37288341	U87	brain:	n/a
15	chr19:37261338-37261388	NB4	blood:	n/a
16	chr19:37266748-37266798	IMR90	lung:	fetal
17	chr19:37329517-37329567	SK-N-MC	brain:	n/a
18	chr19:37329330-37329380	SK-N-SH	brain:	n/a
19	chr19:37267026-37267076	HPAEpiC	pulmonary alveolar:	n/a
20	chr19:37263704-37263754	HCM	heart:	n/a
21	chr19:37263925-37263975	AG10803	skin:	n/a
22	chr19:37263925-37263975	HRPEpiC	eye:	n/a
23	chr19:37262611-37262661	SK-N-SH_RA	brain:	n/a
24	chr19:37270307-37270357	ovcar-3	ovarian:	n/a
25	chr19:37337985-37338035	NT2-D1	testis:	n/a
26	chr19:37329274-37329324	HPAEpiC	pulmonary alveolar:	n/a
27	chr19:37270307-37270357	SK-N-SH_RA	brain:	n/a
28	chr19:37288793-37288843	LNCaP	prostate:	n/a
29	chr19:37266605-37266655	Jurkat	blood:	n/a
30	chr19:37329859-37329909	SK-N-SH_RA	brain:	n/a
31	chr19:37282931-37282981	MCF-7	breast:	n/a
32	chr19:37267026-37267076	SKMC	muscle:	n/a
33	chr19:37329274-37329324	HRCEpiC	kidney:	n/a
34	chr19:37329498-37329548	Jurkat	blood:	n/a
35	chr19:37291668-37291718	HCT-116	colon:	n/a
36	chr19:37261338-37261388	ECC-1	luminal epithelium:	n/a
37	chr19:37329090-37329140	H1-hESC	embryonic stem cell:	embryo
38	chr19:37266748-37266798	HNPCEpiC	eye:	n/a
39	chr19:37344430-37344480	AG09319	gingival:	n/a
40	chr19:37267026-37267076	HCM	heart:	n/a
41	chr19:37267584-37267634	MCF10A-Er-Src	breast:	n/a
42	chr19:37282556-37282606	HRCEpiC	kidney:	n/a
43	chr19:37288450-37288500	H1-hESC	embryonic stem cell:	embryo
44	chr19:37267584-37267634	NHBE	bronchial:	n/a
45	chr19:37341261-37341311	NT2-D1	testis:	n/a
46	chr19:37282653-37282703	PFSK-1	brain:	n/a
47	chr19:37329517-37329567	ovcar-3	ovarian:	n/a
48	chr19:37329498-37329548	SKMC	muscle:	n/a
49	chr19:37266605-37266655	AG04450	lung:	fetal
50	chr19:37267584-37267634	HPAEpiC	pulmonary alveolar:	n/a

(count:70 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr19:37201484..37203219-chr19:37205310..37207219,2	K562	blood:
2	chr19:36979208..36981780-chr19:37261367..37264210,2	K562	blood:
3	chr19:37331659..37333471-chr19:37334083..37336419,2	MCF-7	breast:
4	chr19:37308302..37310543-chr19:37312851..37314907,2	K562	blood:
5	chr19:37237446..37239729-chr19:37240708..37243569,2	K562	blood:
6	chr19:37248355..37251214-chr19:37254727..37257634,2	K562	blood:
7	chr19:37257289..37258823-chr19:37260501..37262217,2	K562	blood:
8	chr19:37323948..37326050-chr19:37340760..37342851,2	MCF-7	breast:
9	chr19:37327752..37331008-chr19:37336124..37344037,12	MCF-7	breast:
10	chr19:37177766..37179816-chr19:37265277..37267800,2	MCF-7	breast:
11	chr19:37342451..37344780-chr19:37351760..37354112,2	K562	blood:
12	chr19:37290133..37291956-chr19:37293759..37296212,2	MCF-7	breast:
13	chr19:37264129..37265649-chr19:37327826..37329593,2	K562	blood:
14	chr19:37308302..37310543-chr19:37312851..37314907,2	K562	blood:
15	chr19:37338913..37342435-chr19:37343992..37346462,3	K562	blood:
16	chr19:37325206..37326948-chr19:37327588..37329435,2	MCF-7	breast:
17	chr19:37309306..37311965-chr19:37314564..37316601,2	MCF-7	breast:
18	chr19:37290133..37291956-chr19:37293759..37296212,2	MCF-7	breast:
19	chr19:37341026..37342586-chr19:37347410..37350051,2	MCF-7	breast:
20	chr19:37255401..37258823-chr19:37260501..37263315,3	K562	blood:
21	chr19:37253172..37254822-chr19:37261292..37262895,2	K562	blood:
22	chr19:37270866..37273787-chr19:37294233..37296102,2	MCF-7	breast:
23	chr19:37335646..37338151-chr19:37339338..37341642,2	K562	blood:
24	chr19:37341751..37345172-chr19:37348520..37351258,3	K562	blood:
25	chr19:37331659..37333471-chr19:37334083..37336419,2	MCF-7	breast:
26	chr19:37340586..37343118-chr19:37344104..37346997,2	MCF-7	breast:
27	chr19:37341751..37343883-chr19:37348520..37351258,2	K562	blood:
28	chr19:37255401..37258823-chr19:37260501..37263315,3	K562	blood:
29	chr19:37287538..37289947-chr19:37340425..37342708,2	MCF-7	breast:
30	chr19:37341751..37343883-chr19:37348520..37351258,2	K562	blood:
31	chr19:37328893..37331026-chr19:37332754..37334779,3	K562	blood:
32	chr19:37270866..37273787-chr19:37294233..37296102,2	MCF-7	breast:
33	chr19:37316955..37318690-chr19:37340374..37342532,2	MCF-7	breast:
34	chr19:37287538..37289947-chr19:37340425..37342708,2	MCF-7	breast:
35	chr19:36869355..36872280-chr19:37261242..37264152,2	MCF-7	breast:
36	chr19:37200029..37202996-chr19:37208997..37211865,2	K562	blood:
37	chr19:37339729..37341977-chr19:37344945..37346837,2	K562	blood:
38	chr19:37288230..37290127-chr19:37296601..37299448,2	MCF-7	breast:
39	chr19:37309306..37311965-chr19:37314564..37316601,2	MCF-7	breast:
40	chr19:37251050..37253056-chr19:37257970..37259681,2	K562	blood:
41	chr19:37248355..37251214-chr19:37254727..37257634,2	K562	blood:
42	chr19:37237446..37239729-chr19:37240708..37243569,2	K562	blood:
43	chr19:37230647..37232496-chr19:37235313..37237662,2	K562	blood:
44	chr19:37328153..37331214-chr19:37339535..37342855,6	K562	blood:
45	chr19:37327752..37331008-chr19:37336124..37344037,12	MCF-7	breast:
46	chr19:37341916..37344029-chr19:37407089..37408811,2	MCF-7	breast:
47	chr19:37316189..37318568-chr19:37320159..37322444,2	K562	blood:
48	chr19:37273460..37274086-chr5:138634312..138635067,2	MCF-7	breast:
49	chr19:37257289..37258823-chr19:37260501..37262217,2	K562	blood:
50	chr19:37328153..37331214-chr19:37339535..37342855,6	K562	blood:

(count:34 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF345-1	chr19:37292105-37292142	NONHSAT066049
2	lnc-ZNF345-1	chr19:37292778-37292835	ENSG00000247207
3	lnc-ZNF567-4	chr19:37208608-37208753	ucscGeneNc_uc002ntb_1
4	lnc-ZNF345-2	chr19:37342732-37342806	NONHSAT066053
5	lnc-ZNF567-4	chr19:37223112-37223145	ucscGeneNc_uc002ntb_1
6	lnc-ZNF345-1	chr19:37292778-37292835	NONHSAT066050
7	lnc-ZNF345-1	chr19:37288465-37288713	NONHSAT066050
8	lnc-ZNF567-4	chr19:37220300-37220609	ucscGeneNc_uc002ntb_1
9	lnc-ZNF790-1	chr19:37342310-37342418	ENSG00000254435.1
10	lnc-ZNF345-2	chr19:37341788-37341870	NONHSAT066053
11	lnc-ZNF567-4	chr19:37222239-37222365	ucscGeneNc_uc002ntb_1
12	lnc-ZNF790-1	chr19:37341779-37342087	ENSG00000254435.1
13	lnc-ZNF345-1	chr19:37314633-37314723	NONHSAT066049
14	lnc-ZNF345-2	chr19:37342557-37342625	NONHSAT066055
15	lnc-ZNF345-2	chr19:37345352-37345496	NONHSAT066057
16	lnc-ZNF345-1	chr19:37314633-37314723	NONHSAT066050
17	lnc-ZNF345-2	chr19:37342732-37342806	NONHSAT066054
18	lnc-ZNF345-1	chr19:37303412-37303508	ENSG00000267254.1
19	lnc-ZNF345-1	chr19:37318552-37319013	NONHSAT066050
20	lnc-ZNF345-2	chr19:37342647-37342806	NONHSAT066056
21	lnc-ZNF345-2	chr19:37341832-37341870	NONHSAT066054
22	lnc-ZNF345-1	chr19:37316282-37316424	NONHSAT066049
23	lnc-ZNF345-1	chr19:37292778-37292835	ENSG00000267254.1
24	lnc-ZNF345-1	chr19:37292111-37292142	ENSG00000267254.1
25	lnc-ZNF345-1	chr19:37318552-37319017	ENSG00000267254.1
26	lnc-ZNF345-1	chr19:37318552-37319013	NONHSAT066049
27	lnc-ZNF345-1	chr19:37314633-37314723	ENSG00000247207
28	lnc-ZNF461-4	chr19:37208461-37208525	l_1676_chr19:37148392-37193298_testes
29	lnc-ZNF345-1	chr19:37318552-37319003	ENSG00000247207
30	lnc-ZNF345-1	chr19:37288465-37288713	ENSG00000247207
31	lnc-ZNF345-2	chr19:37342732-37342806	NONHSAT066055
32	lnc-ZNF345-1	chr19:37292778-37292835	NONHSAT066049
33	lnc-ZNF345-1	chr19:37288452-37288713	NONHSAT066049
34	lnc-ZNF345-2	chr19:37342754-37342806	NONHSAT066057

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	ZNF567	hsa-miR-130b-3p	chr19:37211905-37211925
2	ZNF567	hsa-miR-30b-5p	chr19:37211699-37211720

Variant related genes	Relation type
ENSG00000267260	TF binding region
ENSG00000206669	TF binding region
ZNF567	TF binding region
ZNF790	TF binding region
ENSG00000267353	TF binding region
ENSG00000267254	TF binding region
ZNF850	TF binding region
ZNF345	TF binding region
ENSG00000267260	CpG island
ENSG00000206669	CpG island
ZNF567	CpG island
ZNF790	CpG island
ENSG00000267353	CpG island
ENSG00000267254	CpG island
ZNF850	CpG island
ZNF345	CpG island
ENSG00000186020	chromatin interactions
ENSG00000233527	chromatin interactions
ENSG00000225975	chromatin interactions
ENSG00000188283	chromatin interactions
ENSG00000267309	chromatin interactions
ENSG00000267254	chromatin interactions
ENSG00000206669	chromatin interactions
ENSG00000198453	chromatin interactions
ENSG00000189042	chromatin interactions
ENSG00000228629	chromatin interactions
ENSG00000126247	chromatin interactions
ENSG00000245680	chromatin interactions
ENSG00000251247	chromatin interactions
ENSG00000186017	chromatin interactions
ENSG00000197863	chromatin interactions
ENSG00000254004	chromatin interactions
ENSG00000185869	chromatin interactions
ENSG00000267363	chromatin interactions
ENSG00000142065	chromatin interactions
GIGYF1	miRNA target sites
FAM47B	miRNA target sites
KCTD2	miRNA target sites
CDKN1B	miRNA target sites

Extended variants
information (count: 5843 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:5843 , 50 per page) page: 1 2 3 4 5 6 7 ... 117

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572204926	chr19:37193712-37193713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs200306737	chr19:37193733-37193734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs536476603	chr19:37193742-37193743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs377617021	chr19:37193760-37193761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs111999132	chr19:37193783-37193784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs555083339	chr19:37193799-37193800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs188700018	chr19:37193827-37193828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs573468327	chr19:37193828-37193829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs138482627	chr19:37193861-37193862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs577424509	chr19:37193931-37193932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs374405613	chr19:37193940-37193941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs368755086	chr19:37193977-37193978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs371192140	chr19:37193988-37193989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs373629807	chr19:37194013-37194014	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs10409630	chr19:37194066-37194067	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs113139002	chr19:37194112-37194113	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs112778779	chr19:37194138-37194139	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs149553195	chr19:37194140-37194141	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs10411411	chr19:37194148-37194149	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs148737301	chr19:37194156-37194157	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs560622248	chr19:37194213-37194214	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs551500512	chr19:37194239-37194240	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs111984563	chr19:37194240-37194241	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs531308372	chr19:37194241-37194242	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs35641493	chr19:37194247-37194248	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs549328568	chr19:37194263-37194264	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs571215650	chr19:37194443-37194444	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs538304819	chr19:37194456-37194457	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs12459915	chr19:37194484-37194485	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs7251795	chr19:37194500-37194501	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	mRNA abundance
31	rs572720849	chr19:37194543-37194544	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs10410734	chr19:37194544-37194545	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs554823287	chr19:37194604-37194605	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs576555633	chr19:37194631-37194632	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs376154693	chr19:37194638-37194639	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs35563483	chr19:37194642-37194643	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs537551910	chr19:37194643-37194644	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs558823663	chr19:37194651-37194652	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs577164798	chr19:37194666-37194667	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs139710779	chr19:37194679-37194680	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs531087678	chr19:37194690-37194691	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs574816534	chr19:37194733-37194734	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs185973293	chr19:37194751-37194752	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs541973571	chr19:37194756-37194757	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs563550041	chr19:37194760-37194761	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs3108565	chr19:37194767-37194768	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs147630373	chr19:37194779-37194780	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs564859609	chr19:37194784-37194785	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs532120062	chr19:37194812-37194813	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs191765947	chr19:37194817-37194818	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

Disease	PMID	Source
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Ovarian cancer	21720365	CNVD
Cancer	20164919	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Ductal carcinoma	22052326	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Congenital nephrotic syndrome	18421352	CNVD
Astrocytoma	17934521	CNVD
Leukemia	17361228	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Breast cancer	21858162	CNVD
Breast cancer	17603634	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Oligodendroglial tumors	17285580	CNVD
renal disease	20603712	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Disorders of sex development	21048976	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21364760	CNVD
Invasive pancreatic ductal carcinoma	18765526	CNVD
Rhabdomyosarcoma	16790082	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Glioma	17123091	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Multiple myeloma	16616336	CNVD
Wilms tumour	21544195	CNVD
Mental retardation	19951919	CNVD
19q13.11 deletion syndrome	22378287	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Ovarian neoplasms	16753589	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:5589 , 50 per page) page: 1 2 3 4 5 6 7 ... 112

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37179400-37194800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr19:37179400-37199200	Weak transcription	Fetal Heart	heart
3	chr19:37179600-37194400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr19:37183600-37203200	Weak transcription	K562	blood
5	chr19:37184000-37194600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr19:37184400-37194600	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr19:37184400-37199000	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr19:37186000-37194600	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr19:37186400-37194400	Weak transcription	Thymus	Thymus
10	chr19:37186600-37194400	Weak transcription	Fetal Stomach	stomach
11	chr19:37186600-37195400	Weak transcription	Right Ventricle	heart
12	chr19:37187600-37194400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr19:37187600-37194400	Weak transcription	Ovary	ovary
14	chr19:37187600-37194600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr19:37187600-37194600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr19:37187600-37194600	Weak transcription	Esophagus	oesophagus
17	chr19:37187600-37194600	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr19:37187600-37194800	Weak transcription	Gastric	stomach
19	chr19:37187600-37196800	Weak transcription	Brain Angular Gyrus	brain
20	chr19:37187600-37198400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr19:37187800-37194600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr19:37187800-37194600	Weak transcription	Brain Hippocampus Middle	brain
23	chr19:37188000-37195800	Weak transcription	Stomach Smooth Muscle	stomach
24	chr19:37188000-37196400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr19:37188400-37194600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr19:37188400-37197000	Weak transcription	Fetal Kidney	kidney
27	chr19:37188600-37194400	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr19:37188600-37194600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr19:37188800-37194000	Weak transcription	Adipose Nuclei	Adipose
30	chr19:37188800-37194400	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr19:37188800-37194400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr19:37188800-37194400	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr19:37188800-37194400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr19:37188800-37194400	Weak transcription	Primary hematopoietic stem cells	blood
35	chr19:37188800-37194400	Weak transcription	Aorta	Aorta
36	chr19:37188800-37194400	Weak transcription	Brain Anterior Caudate	brain
37	chr19:37188800-37194400	Weak transcription	Brain Germinal Matrix	brain
38	chr19:37188800-37194400	Weak transcription	Duodenum Mucosa	Duodenum
39	chr19:37188800-37194400	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr19:37188800-37194400	Weak transcription	Fetal Intestine Small	intestine
41	chr19:37188800-37194400	Weak transcription	Left Ventricle	heart
42	chr19:37188800-37194400	Weak transcription	Dnd41	blood
43	chr19:37188800-37194600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr19:37188800-37194600	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr19:37188800-37194600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr19:37188800-37194600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr19:37188800-37194600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr19:37188800-37194600	Weak transcription	Primary neutrophils fromperipheralblood	blood
49	chr19:37188800-37194600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr19:37188800-37194600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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