Variant report

Variant	nsv911295
Chromosome Location	chr19:18874483-18902592
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1177)
CpG islands
(count:2504)
Chromatin interactive
region (count:77)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

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No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr19:18899740-18899901	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr19:18899303-18899540	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr19:18890885-18890993	K562	blood:	n/a	n/a
4	BACH1	chr19:18901878-18901978	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr19:18896847-18897007	K562	blood:	n/a	n/a
6	BATF	chr19:18876073-18876287	GM12878	blood:	n/a	n/a
7	BCL3	chr19:18881490-18882029	GM12878	blood:	n/a	n/a
8	BHLHE40	chr19:18886793-18887024	K562	blood:	n/a	n/a
9	BHLHE40	chr19:18895728-18895922	K562	blood:	n/a	n/a
10	BHLHE40	chr19:18874813-18875208	K562	blood:	n/a	n/a
11	BHLHE40	chr19:18887489-18887809	K562	blood:	n/a	n/a
12	BHLHE40	chr19:18896515-18896589	K562	blood:	n/a	n/a
13	CCNT2	chr19:18900842-18900846	K562	blood:	n/a	n/a
14	CCNT2	chr19:18882672-18882694	K562	blood:	n/a	n/a
15	CCNT2	chr19:18896056-18896256	K562	blood:	n/a	n/a
16	CCNT2	chr19:18874829-18875158	K562	blood:	n/a	n/a
17	CEBPB	chr19:18882563-18882586	HepG2	liver:	n/a	n/a
18	CEBPD	chr19:18896055-18896276	HepG2	liver:	n/a	n/a
19	CHD2	chr19:18896269-18896381	H1-hESC	embryonic stem cell:	n/a	n/a
20	CHD2	chr19:18900178-18900250	H1-hESC	embryonic stem cell:	n/a	n/a
21	CHD2	chr19:18896114-18896276	Hela-S3	cervix:	n/a	n/a
22	CREB1	chr19:18900567-18901037	H1-hESC	embryonic stem cell:	n/a	n/a
23	CTCF	chr19:18882440-18882590	AG04450	lung:	n/a	n/a
24	CTCF	chr19:18882500-18882650	GM12865	blood:	n/a	chr19:18882585-18882592
25	CTCF	chr19:18882500-18882650	GM06990	blood:	n/a	chr19:18882585-18882592
26	CTCF	chr19:18882520-18882670	GM12865	blood:	n/a	chr19:18882585-18882592
27	CTCF	chr19:18891600-18891750	AG09319	gingival:	n/a	n/a
28	CTCF	chr19:18879460-18879610	HA-sp	spinal cord:	n/a	n/a
29	CTCF	chr19:18887460-18887610	HVMF	connective:	n/a	n/a
30	CTCF	chr19:18891600-18891750	WERI-Rb-1	eye:	n/a	n/a
31	CTCF	chr19:18891600-18891750	HEK293	kidney:	n/a	n/a
32	CTCF	chr19:18896960-18897110	GM12873	blood:	n/a	chr19:18897030-18897039
33	CTCF	chr19:18882560-18882710	GM12872	blood:	n/a	chr19:18882585-18882592
34	CTCF	chr19:18882408-18882779	HepG2	liver:	n/a	chr19:18882585-18882592
35	CTCF	chr19:18882480-18882630	GM12878	blood:	n/a	chr19:18882585-18882592
36	CTCF	chr19:18891660-18891810	GM12871	blood:	n/a	n/a
37	CTCF	chr19:18879360-18879510	HCFaa	heart:	n/a	n/a
38	CTCF	chr19:18882520-18882670	AG10803	skin:	n/a	chr19:18882585-18882592
39	CTCF	chr19:18887180-18887330	SK-N-SH_RA	brain:	n/a	chr19:18887252-18887268 chr19:18887254-18887264
40	CTCF	chr19:18887230-18887280	GM12891	blood:	n/a	chr19:18887252-18887268 chr19:18887254-18887264
41	CTCF	chr19:18891680-18891830	GM12865	blood:	n/a	n/a
42	CTCF	chr19:18895335-18895391	GM12878	blood:	n/a	n/a
43	CTCF	chr19:18891523-18891746	A549	lung:	n/a	n/a
44	CTCF	chr19:18881122-18881154	MCF-7	breast:	n/a	n/a
45	CTCF	chr19:18887200-18887350	HCM	heart:	n/a	chr19:18887252-18887268 chr19:18887254-18887264
46	CTCF	chr19:18882455-18882710	MCF-7	breast:	n/a	chr19:18882585-18882592
47	CTCF	chr19:18891620-18891770	GM12868	blood:	n/a	n/a
48	CTCF	chr19:18879420-18879570	HBMEC	blood vessel:	n/a	n/a
49	CTCF	chr19:18882480-18882630	WI-38	lung:	n/a	chr19:18882585-18882592
50	CTCF	chr19:18895366-18895397	K562	blood:	n/a	n/a

(count:2504 , 50 per page) page: 1 2 3 4 5 6 7 ... 51

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:18899483-18899533	IMR90	lung:	fetal
2	chr19:18879446-18879496	U87	brain:	n/a
3	chr19:18893683-18893733	ECC-1	luminal epithelium:	n/a
4	chr19:18899483-18899533	IMR90	lung:	fetal
5	chr19:18879446-18879496	U87	brain:	n/a
6	chr19:18893683-18893733	ECC-1	luminal epithelium:	n/a
7	chr19:18900772-18900822	MCF10A-Er-Src	breast:	n/a
8	chr19:18901446-18901496	U87	brain:	n/a
9	chr19:18902527-18902577	HNPCEpiC	eye:	n/a
10	chr19:18902081-18902131	SK-N-SH_RA	brain:	n/a
11	chr19:18876246-18876296	HEEpiC	esophagus:	n/a
12	chr19:18901446-18901496	NT2-D1	testis:	n/a
13	chr19:18898394-18898444	NHBE	bronchial:	n/a
14	chr19:18883801-18883851	Jurkat	blood:	n/a
15	chr19:18901666-18901716	HRCEpiC	kidney:	n/a
16	chr19:18892320-18892370	RPTEC	kidney:	n/a
17	chr19:18900241-18900291	Hela-S3	cervix:	n/a
18	chr19:18874682-18874732	AG09319	gingival:	n/a
19	chr19:18876246-18876296	NT2-D1	testis:	n/a
20	chr19:18879431-18879481	HCT-116	colon:	n/a
21	chr19:18900241-18900291	IMR90	lung:	fetal
22	chr19:18902221-18902271	HCT-116	colon:	n/a
23	chr19:18900568-18900618	Hela-S3	cervix:	n/a
24	chr19:18902527-18902577	HepG2	liver:	n/a
25	chr19:18888081-18888131	AoSMC	blood vessel:	n/a
26	chr19:18879450-18879500	CMK	blood:	n/a
27	chr19:18901364-18901414	PFSK-1	brain:	n/a
28	chr19:18885802-18885852	SAEC	small airway:	n/a
29	chr19:18901748-18901798	Hepatocyte	liver:	n/a
30	chr19:18902117-18902167	GM12892	blood:	n/a
31	chr19:18885995-18886045	AG04449	skin:	fetal
32	chr19:18902117-18902167	A549	lung:	n/a
33	chr19:18902221-18902271	MCF-7	breast:	n/a
34	chr19:18901446-18901496	SK-N-SH_RA	brain:	n/a
35	chr19:18901446-18901496	AG04449	skin:	fetal
36	chr19:18883801-18883851	ECC-1	luminal epithelium:	n/a
37	chr19:18898325-18898375	MCF10A-Er-Src	breast:	n/a
38	chr19:18883801-18883851	NH-A	brain:	n/a
39	chr19:18879450-18879500	PrEC	prostate:	n/a
40	chr19:18898325-18898375	Hepatocyte	liver:	n/a
41	chr19:18888799-18888849	BE2_C	brain:	n/a
42	chr19:18901364-18901414	ECC-1	luminal epithelium:	n/a
43	chr19:18896632-18896682	SAEC	small airway:	n/a
44	chr19:18892320-18892370	PrEC	prostate:	n/a
45	chr19:18899483-18899533	HAEpiC	amniotic membrane:	n/a
46	chr19:18888081-18888131	AG09309	skin:	n/a
47	chr19:18899876-18899926	PFSK-1	brain:	n/a
48	chr19:18879431-18879481	K562	blood:	n/a
49	chr19:18893683-18893733	MCF-7	breast:	n/a
50	chr19:18898325-18898375	ovcar-3	ovarian:	n/a

(count:77 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr19:18557792..18559454-chr19:18878967..18881319,2	MCF-7	breast:
2	chr19:18872280..18874058-chr19:18875721..18877942,2	K562	blood:
3	chr19:18874177..18875859-chr19:18883613..18885270,2	MCF-7	breast:
4	chr19:18874381..18876339-chr19:18897284..18899870,2	MCF-7	breast:
5	chr19:18848604..18850692-chr19:18885341..18887518,2	K562	blood:
6	chr19:18895540..18898412-chr19:18899953..18903266,3	MCF-7	breast:
7	chr19:18885317..18890245-chr19:18892616..18897433,6	MCF-7	breast:
8	chr19:18879279..18882586-chr19:18891947..18894710,3	MCF-7	breast:
9	chr19:18873859..18875560-chr19:18886840..18888488,3	K562	blood:
10	chr19:18879564..18881253-chr19:18901365..18903638,2	MCF-7	breast:
11	chr19:18879555..18882171-chr19:18889752..18892151,2	MCF-7	breast:
12	chr19:18554334..18556590-chr19:18899437..18901664,2	MCF-7	breast:
13	chr19:18873360..18874875-chr19:18936568..18938805,2	MCF-7	breast:
14	chr19:18894261..18896592-chr19:18970535..18972363,2	K562	blood:
15	chr19:18879279..18882586-chr19:18891947..18894710,3	MCF-7	breast:
16	chr19:18890374..18892617-chr19:18892731..18895508,2	MCF-7	breast:
17	chr19:18895143..18898266-chr19:18900658..18903454,3	K562	blood:
18	chr19:18875448..18876988-chr19:18887590..18889948,2	MCF-7	breast:
19	chr19:18880004..18881941-chr19:18884562..18887049,2	MCF-7	breast:
20	chr19:18881325..18883950-chr19:18956638..18959292,2	MCF-7	breast:
21	chr19:18872893..18875697-chr19:18882255..18885154,3	K562	blood:
22	chr19:18894270..18897245-chr19:18901318..18904451,3	MCF-7	breast:
23	chr19:18884413..18887113-chr19:18941934..18943806,2	MCF-7	breast:
24	chr19:18874101..18878371-chr19:18942511..18945645,5	MCF-7	breast:
25	chr19:18880198..18881176-chr19:19110123..19110683,2	MCF-7	breast:
26	chr19:18895143..18898266-chr19:18900658..18903454,3	K562	blood:
27	chr19:18884520..18886788-chr19:18893936..18895702,2	MCF-7	breast:
28	chr19:18893606..18897307-chr19:18942633..18945318,6	K562	blood:
29	chr19:18858094..18859912-chr19:18886098..18888648,2	K562	blood:
30	chr19:18890374..18892617-chr19:18892731..18895508,2	MCF-7	breast:
31	chr19:18874269..18876482-chr19:19029002..19030543,2	K562	blood:
32	chr19:18895540..18898412-chr19:18899953..18903266,3	MCF-7	breast:
33	chr19:18793477..18796514-chr19:18879346..18882602,3	MCF-7	breast:
34	chr19:18698038..18701680-chr19:18871708..18876325,4	MCF-7	breast:
35	chr19:18872893..18875697-chr19:18882255..18885154,3	K562	blood:
36	chr19:18871848..18875156-chr19:18958149..18962324,3	MCF-7	breast:
37	chr19:18882666..18885007-chr19:18949249..18951602,2	K562	blood:
38	chr19:18898804..18900578-chr19:18921780..18924474,2	K562	blood:
39	chr19:18882176..18882866-chr19:18977411..18977945,2	MCF-7	breast:
40	chr19:18879904..18881816-chr19:18903535..18906378,2	MCF-7	breast:
41	chr19:18893606..18896824-chr19:18942185..18945318,5	K562	blood:
42	chr19:18874177..18875859-chr19:18883613..18885270,2	MCF-7	breast:
43	chr19:18836550..18839278-chr19:18885925..18888717,2	K562	blood:
44	chr19:18111051..18113272-chr19:18901611..18904539,2	MCF-7	breast:
45	chr19:18882568..18885784-chr19:18942722..18944432,3	MCF-7	breast:
46	chr19:18870939..18874393-chr19:18880891..18884854,3	K562	blood:
47	chr19:18880676..18881342-chr19:19110183..19110830,2	MCF-7	breast:
48	chr19:18669910..18672627-chr19:18873619..18876384,2	MCF-7	breast:
49	chr19:18845318..18847761-chr19:18881777..18883860,2	K562	blood:
50	chr19:18882021..18883001-chr19:18957503..18958514,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-COMP-1	chr19:18878327-18878709	expReg_chr19_4076_-

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	CRTC1	hsa-miR-125b-5p	chr19:18893034-18893040

Variant related genes	Relation type
COMP	TF binding region
COMP	CpG island
ENSG00000105662	chromatin interactions
ENSG00000105656	chromatin interactions
ENSG00000006016	chromatin interactions
ENSG00000268030	chromatin interactions
ENSG00000105643	chromatin interactions
ENSG00000105669	chromatin interactions
ENSG00000105700	chromatin interactions
ENSG00000256989	chromatin interactions
ENSG00000105664	chromatin interactions
ENSG00000105671	chromatin interactions
ENSG00000005007	chromatin interactions
ENSG00000006015	chromatin interactions

Extended variants
information (count: 1253 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:1253 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11878358	chr19:18874483-18874484	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs181813234	chr19:18874510-18874511	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
3	rs115219687	chr19:18874515-18874516	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
4	rs577523186	chr19:18874519-18874520	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
5	rs375633463	chr19:18874521-18874522	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
6	rs560163693	chr19:18874526-18874527	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
7	rs12608527	chr19:18874567-18874568	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
8	rs185686325	chr19:18874587-18874588	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
9	rs376880441	chr19:18874596-18874597	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
10	rs111679491	chr19:18874605-18874606	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
11	rs542840544	chr19:18874609-18874610	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
12	rs562340994	chr19:18874675-18874676	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
13	rs531505786	chr19:18874680-18874681	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
14	rs143223066	chr19:18874683-18874684	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
15	rs564155843	chr19:18874720-18874721	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
16	rs533333576	chr19:18874748-18874749	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
17	rs546657206	chr19:18874793-18874794	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
18	rs150444360	chr19:18874832-18874833	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
19	rs537290098	chr19:18874854-18874855	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
20	rs117215556	chr19:18874862-18874863	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
21	rs535571066	chr19:18874890-18874891	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
22	rs549641968	chr19:18874891-18874892	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
23	rs569425112	chr19:18874912-18874913	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
24	rs570794731	chr19:18874913-18874914	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
25	rs148328260	chr19:18874918-18874919	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
26	rs577587606	chr19:18874924-18874925	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
27	rs557532078	chr19:18874938-18874939	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
28	rs190150719	chr19:18874946-18874947	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
29	rs553471950	chr19:18874948-18874949	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
30	rs570915024	chr19:18875001-18875002	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
31	rs538917999	chr19:18875009-18875010	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
32	rs75556539	chr19:18875021-18875022	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
33	rs140488871	chr19:18875067-18875068	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
34	rs144805231	chr19:18875147-18875148	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
35	rs553477506	chr19:18875169-18875170	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
36	rs12975249	chr19:18875194-18875195	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs181172992	chr19:18875200-18875201	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
38	rs547015634	chr19:18875226-18875227	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
39	rs560285091	chr19:18875233-18875234	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
40	rs185266492	chr19:18875260-18875261	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
41	rs138664509	chr19:18875268-18875269	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
42	rs189639718	chr19:18875279-18875280	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
43	rs117861375	chr19:18875325-18875326	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
44	rs574673994	chr19:18875362-18875363	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
45	rs113929736	chr19:18875384-18875385	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
46	rs367702505	chr19:18875386-18875387	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
47	rs534216388	chr19:18875390-18875391	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
48	rs114681099	chr19:18875426-18875427	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
49	rs182659900	chr19:18875507-18875508	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
50	rs187294719	chr19:18875519-18875520	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
Follicular lymphoma	20505157	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	20179077	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21080181	CNVD
Metanephric adenoma	20802469	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Lung cancer	17297452	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Chordoma	18071362	CNVD
Ewing''s sarcoma	21437220	CNVD
Medulloblastoma	21979893	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
ovarian endometriomas	16273235	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Cervical cancer	21063398	CNVD
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	CNVD
Ovarian cancer	21720365	CNVD
Urothelial carcinoma	21177765	CNVD
Cancer	20164919	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Basal cell lymphoma	21115979	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21364760	CNVD
Mycobacterial infection	18421352	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute monocytic leukemia	16498392	CNVD
Lung cancer	18438408	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Liver carcinoma	19366792	CNVD
Colorectal cancer	19455253	CNVD
Lujan-Fryns syndrom	21521776	CNVD
Breast cancer	20409316	CNVD
Cancer	17160897	CNVD
Cancer	17440070	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	21509527	CNVD
Bladder cancer	21909424	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:1292 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18854600-18895800	Weak transcription	Right Atrium	heart
2	chr19:18861600-18875200	Weak transcription	Primary T cells fromperipheralblood	blood
3	chr19:18862000-18875200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr19:18862600-18888400	Weak transcription	Aorta	Aorta
5	chr19:18864600-18887400	Weak transcription	Primary B cells from cord blood	blood
6	chr19:18864800-18875200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr19:18865000-18885000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr19:18865400-18875200	Weak transcription	Primary B cells from peripheral blood	blood
9	chr19:18865400-18879600	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr19:18865400-18880000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr19:18865400-18887400	Weak transcription	Primary T cells from cord blood	blood
12	chr19:18865600-18878600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr19:18865600-18894600	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr19:18865600-18896000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr19:18868000-18877400	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr19:18868000-18878400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr19:18868000-18885400	Weak transcription	Thymus	Thymus
18	chr19:18868200-18875600	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr19:18868200-18890600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr19:18868600-18878600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr19:18870800-18876400	Enhancers	Esophagus	oesophagus
22	chr19:18870800-18876600	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr19:18871400-18875200	Enhancers	Fetal Muscle Leg	muscle
24	chr19:18871800-18874600	Enhancers	Fetal Muscle Trunk	muscle
25	chr19:18871800-18874600	Enhancers	Gastric	stomach
26	chr19:18872400-18875800	Flanking Active TSS	HMEC	breast
27	chr19:18872600-18874600	Enhancers	HSMM	muscle
28	chr19:18872600-18876000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr19:18872600-18876400	Enhancers	HSMMtube	muscle
30	chr19:18872800-18876200	Enhancers	NH-A	brain
31	chr19:18872800-18876400	Enhancers	Muscle Satellite Cultured Cells	--
32	chr19:18873200-18874800	Enhancers	Osteobl	bone
33	chr19:18873200-18876200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr19:18873200-18876200	Enhancers	Hela-S3	cervix
35	chr19:18873400-18874600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr19:18873400-18876400	Enhancers	Pancreas	Pancrea
37	chr19:18873400-18878800	Weak transcription	Fetal Intestine Large	intestine
38	chr19:18873600-18874600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr19:18873600-18874600	Weak transcription	Placenta	Placenta
40	chr19:18873600-18874600	Weak transcription	NHDF-Ad	bronchial
41	chr19:18873600-18874800	Weak transcription	Fetal Thymus	thymus
42	chr19:18873600-18875000	Enhancers	Placenta Amnion	Placenta Amnion
43	chr19:18873600-18875200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr19:18873600-18875200	Weak transcription	NHLF	lung
45	chr19:18873600-18875400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr19:18873600-18878200	Weak transcription	Fetal Brain Female	brain
47	chr19:18873800-18874600	Weak transcription	Psoas Muscle	Psoas
48	chr19:18873800-18874800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr19:18873800-18874800	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr19:18873800-18875200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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