Variant report

Variant	esv3428897
Chromosome Location	chr18:12419827-12421825
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:485)
CpG islands
(count:305)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:485 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr18:12421215-12421460	HepG2	liver:	n/a	n/a
2	BACH1	chr18:12419896-12420532	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr18:12421133-12421470	H1-hESC	embryonic stem cell:	n/a	n/a
4	BHLHE40	chr18:12420957-12421323	GM12878	blood:	n/a	n/a
5	BHLHE40	chr18:12420274-12420589	GM12878	blood:	n/a	chr18:12420275-12420291 chr18:12420498-12420514
6	BHLHE40	chr18:12420897-12421455	HepG2	liver:	n/a	n/a
7	BRCA1	chr18:12421213-12421326	HepG2	liver:	n/a	n/a
8	BRCA1	chr18:12420393-12420404	GM12878	blood:	n/a	n/a
9	BRCA1	chr18:12421140-12421360	H1-hESC	embryonic stem cell:	n/a	n/a
10	BRCA1	chr18:12420233-12420411	HepG2	liver:	n/a	n/a
11	CCNT2	chr18:12420365-12420500	K562	blood:	n/a	n/a
12	CEBPB	chr18:12419833-12420174	Hela-S3	cervix:	n/a	n/a
13	CEBPD	chr18:12420920-12421405	HepG2	liver:	n/a	n/a
14	CEBPD	chr18:12419910-12420249	HepG2	liver:	n/a	n/a
15	CEBPD	chr18:12420264-12420519	HepG2	liver:	n/a	n/a
16	CHD1	chr18:12420026-12420374	H1-hESC	embryonic stem cell:	n/a	n/a
17	CHD1	chr18:12420958-12421341	GM12878	blood:	n/a	n/a
18	CHD1	chr18:12420310-12420471	GM12878	blood:	n/a	n/a
19	CHD1	chr18:12420951-12421704	H1-hESC	embryonic stem cell:	n/a	n/a
20	CHD2	chr18:12420970-12421204	GM12878	blood:	n/a	n/a
21	CHD2	chr18:12420158-12420501	HepG2	liver:	n/a	n/a
22	CHD2	chr18:12420969-12421099	HepG2	liver:	n/a	n/a
23	CHD2	chr18:12419890-12420560	Hela-S3	cervix:	n/a	n/a
24	CHD2	chr18:12419978-12420459	H1-hESC	embryonic stem cell:	n/a	n/a
25	CHD2	chr18:12420864-12421173	H1-hESC	embryonic stem cell:	n/a	n/a
26	CHD2	chr18:12420304-12420532	GM12878	blood:	n/a	n/a
27	CTCF	chr18:12420292-12420541	GM19239	blood:	n/a	n/a
28	CTCF	chr18:12420300-12420450	GM12873	blood:	n/a	n/a
29	CTCF	chr18:12420220-12420370	GM12867	blood:	n/a	n/a
30	CTCF	chr18:12421780-12421930	HFF	foreskin:	n/a	n/a
31	CTCF	chr18:12420240-12420390	HCPEpiC	choroid plexus:	n/a	n/a
32	CTCF	chr18:12420336-12420473	MCF-7	breast:	n/a	n/a
33	CTCF	chr18:12420300-12420450	HFF	foreskin:	n/a	n/a
34	CTCF	chr18:12420379-12420473	GM13977	blood:	n/a	n/a
35	CTCF	chr18:12420280-12420430	GM12864	blood:	n/a	n/a
36	CTCF	chr18:12419940-12420090	HPAF	blood vessel:	n/a	n/a
37	CTCF	chr18:12420000-12420150	AG04449	skin:	n/a	n/a
38	CTCF	chr18:12419980-12420130	HCT-116	colon:	n/a	n/a
39	CTCF	chr18:12420240-12420390	GM12875	blood:	n/a	n/a
40	CTCF	chr18:12419981-12420124	HepG2	liver:	n/a	n/a
41	CTCF	chr18:12420360-12420510	Hela-S3	cervix:	n/a	n/a
42	CTCF	chr18:12420315-12420497	NHEK	skin:	n/a	n/a
43	CTCF	chr18:12420354-12420482	GM10248	blood:	n/a	n/a
44	CTCF	chr18:12419940-12420090	HPF	lung:	n/a	n/a
45	CTCF	chr18:12419940-12420090	BJ	skin:	n/a	n/a
46	CTCF	chr18:12420040-12420190	SK-N-SH_RA	brain:	n/a	n/a
47	CTCF	chr18:12420180-12420330	HCT-116	colon:	n/a	n/a
48	CTCF	chr18:12421220-12421370	HAc	cerebellar:	n/a	n/a
49	CTCF	chr18:12420363-12420462	Hela-S3	cervix:	n/a	n/a
50	CTCF	chr18:12420243-12420592	GM12878	blood:	n/a	n/a

(count:305 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr18:12420136-12420186	LNCaP	prostate:	n/a
2	chr18:12420412-12420462	A549	lung:	n/a
3	chr18:12421072-12421122	RPTEC	kidney:	n/a
4	chr18:12420082-12420132	A549	lung:	n/a
5	chr18:12420862-12420912	HMEC	breast:	n/a
6	chr18:12420862-12420912	Hela-S3	cervix:	n/a
7	chr18:12420136-12420186	NT2-D1	testis:	n/a
8	chr18:12420082-12420132	HNPCEpiC	eye:	n/a
9	chr18:12421072-12421122	MCF10A-Er-Src	breast:	n/a
10	chr18:12420136-12420186	U87	brain:	n/a
11	chr18:12420136-12420186	PFSK-1	brain:	n/a
12	chr18:12420862-12420912	AG09319	gingival:	n/a
13	chr18:12420412-12420462	GM12878	blood:	n/a
14	chr18:12420136-12420186	AG04450	lung:	fetal
15	chr18:12420862-12420912	HRCEpiC	kidney:	n/a
16	chr18:12420412-12420462	HCM	heart:	n/a
17	chr18:12420862-12420912	AG09309	skin:	n/a
18	chr18:12420136-12420186	Hepatocyte	liver:	n/a
19	chr18:12420082-12420132	U87	brain:	n/a
20	chr18:12420082-12420132	HRE	kidney:	n/a
21	chr18:12420082-12420132	H1-hESC	embryonic stem cell:	embryo
22	chr18:12420136-12420186	HUVEC	blood vessel:	n/a
23	chr18:12420136-12420186	GM12892	blood:	n/a
24	chr18:12421072-12421122	SAEC	small airway:	n/a
25	chr18:12420412-12420462	HCF	heart:	n/a
26	chr18:12420412-12420462	GM12892	blood:	n/a
27	chr18:12420862-12420912	SK-N-MC	brain:	n/a
28	chr18:12420862-12420912	HIPEpiC	eye:	n/a
29	chr18:12421072-12421122	LNCaP	prostate:	n/a
30	chr18:12420412-12420462	Hela-S3	cervix:	n/a
31	chr18:12421072-12421122	HPAEpiC	pulmonary alveolar:	n/a
32	chr18:12421072-12421122	SKMC	muscle:	n/a
33	chr18:12421072-12421122	T-47D	breast:	n/a
34	chr18:12420082-12420132	PrEC	prostate:	n/a
35	chr18:12420412-12420462	ovcar-3	ovarian:	n/a
36	chr18:12421072-12421122	GM06990	blood:	n/a
37	chr18:12420862-12420912	SK-N-SH	brain:	n/a
38	chr18:12420082-12420132	AG10803	skin:	n/a
39	chr18:12420412-12420462	BE2_C	brain:	n/a
40	chr18:12420862-12420912	NHDF-neo	bronchial:	n/a
41	chr18:12420412-12420462	HCPEpiC	choroid plexus:	n/a
42	chr18:12420136-12420186	T-47D	breast:	n/a
43	chr18:12420862-12420912	U87	brain:	n/a
44	chr18:12420136-12420186	PrEC	prostate:	n/a
45	chr18:12420136-12420186	SKMC	muscle:	n/a
46	chr18:12421072-12421122	HUVEC	blood vessel:	n/a
47	chr18:12420082-12420132	IMR90	lung:	fetal
48	chr18:12420136-12420186	HPAEpiC	pulmonary alveolar:	n/a
49	chr18:12420082-12420132	Jurkat	blood:	n/a
50	chr18:12420862-12420912	Caco-2	colon:	n/a

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr18:12418519..12420831-chr18:12657213..12660140,3	MCF-7	breast:
2	chr18:12407594..12413164-chr18:12414407..12422412,12	MCF-7	breast:
3	chr18:12375743..12378274-chr18:12418543..12422031,3	MCF-7	breast:
4	chr18:12418998..12421842-chr18:12658407..12660489,3	MCF-7	breast:
5	chr18:12418687..12420720-chr18:12430201..12431737,2	MCF-7	breast:
6	chr18:12406749..12409861-chr18:12418820..12421803,8	MCF-7	breast:
7	chr18:12421209..12423248-chr18:12437108..12438890,2	MCF-7	breast:

No data

Variant related genes	Relation type
SLMO1	TF binding region
SLMO1	CpG island
ENSG00000267199	chromatin interactions
ENSG00000256786	chromatin interactions
ENSG00000134278	chromatin interactions
ENSG00000141385	chromatin interactions
ENSG00000141391	chromatin interactions
ENSG00000215527	chromatin interactions
ENSG00000128789	chromatin interactions

Extended variants
information (count: 81 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:81 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1785327	chr18:12419846-12419847	Weak transcription Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
2	rs529347499	chr18:12419885-12419886	Weak transcription Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
3	rs148844725	chr18:12419894-12419895	Weak transcription Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
4	rs531309827	chr18:12419922-12419923	Weak transcription Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
5	rs569171147	chr18:12419946-12419947	Weak transcription Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
6	rs539791850	chr18:12419961-12419962	Weak transcription Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
7	rs532750688	chr18:12419964-12419965	Weak transcription Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
8	rs551463634	chr18:12420000-12420001	Weak transcription Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
9	rs75944517	chr18:12420013-12420014	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
10	rs112860307	chr18:12420067-12420068	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
11	rs187617064	chr18:12420132-12420133	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
12	rs567814905	chr18:12420142-12420143	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
13	rs193168355	chr18:12420146-12420147	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
14	rs139385267	chr18:12420147-12420148	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
15	rs556189895	chr18:12420164-12420165	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
16	rs386801359	chr18:12420183-12420184	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
17	rs370628635	chr18:12420184-12420185	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
18	rs553475606	chr18:12420199-12420200	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
19	rs375043234	chr18:12420241-12420242	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
20	rs542465106	chr18:12420279-12420280	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
21	rs201277907	chr18:12420302-12420303	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
22	rs370050988	chr18:12420305-12420306	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
23	rs4423486	chr18:12420317-12420318	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
24	rs531365917	chr18:12420320-12420321	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
25	rs200280022	chr18:12420324-12420325	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
26	rs372651215	chr18:12420359-12420360	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
27	rs139581330	chr18:12420375-12420376	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
28	rs150928266	chr18:12420423-12420424	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
29	rs535156758	chr18:12420432-12420433	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
30	rs566867252	chr18:12420469-12420470	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
31	rs199768796	chr18:12420483-12420484	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
32	rs372267655	chr18:12420492-12420493	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
33	rs375924100	chr18:12420504-12420505	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
34	rs567875726	chr18:12420531-12420532	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
35	rs538409043	chr18:12420564-12420565	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
36	rs529133096	chr18:12420565-12420566	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
37	rs547591664	chr18:12420577-12420578	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
38	rs538347820	chr18:12420590-12420591	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
39	rs553729489	chr18:12420727-12420728	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
40	rs369633131	chr18:12420942-12420943	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs12954094	chr18:12420949-12420950	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs571665343	chr18:12420965-12420966	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs542526458	chr18:12420989-12420990	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs554413014	chr18:12421017-12421018	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs59551512	chr18:12421084-12421085	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs543636578	chr18:12421133-12421134	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs28678625	chr18:12421163-12421164	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs533515387	chr18:12421184-12421185	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs545126982	chr18:12421202-12421203	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs560493147	chr18:12421266-12421267	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Intellectual disability	22102821	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Acute myeloid leukemia	16864856	CNVD
Seminomas	18059402	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Kartagener syndrome	16639409	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Cancer	21183584	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Human rectal carcinomas	16397240	CNVD
Melanoma	18172304	CNVD
Colorectal cancer	16272173	CNVD
Colorectal cancer	19150955	CNVD
Follicular lymphoma	20505157	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	18923191	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Trisomy 18 syndrome	17576883	CNVD
Autism	20808228	CNVD
lymphocytic leukemia	21291569	CNVD
Barrett''s syndrome	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ewing''s sarcoma	17952124	CNVD
Multiple myeloma	17550852	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	21922591	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute myeloid leukemia	17377590	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Developmental delay	21147756	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16620391	CNVD
Myelofibrosis	22110671	CNVD
Retinoblastoma	21504564	CNVD
Glioma	17123091	CNVD
Neurodevelopmental disorder	22521361	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:422 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12410400-12430400	Weak transcription	A549	lung
2	chr18:12416000-12420000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr18:12416200-12420000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr18:12416200-12420000	Weak transcription	Aorta	Aorta
5	chr18:12416200-12420000	Weak transcription	Fetal Heart	heart
6	chr18:12416200-12420000	Weak transcription	Left Ventricle	heart
7	chr18:12416200-12420000	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr18:12416200-12420000	Weak transcription	Spleen	Spleen
9	chr18:12416400-12420000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr18:12416400-12420000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr18:12416400-12420000	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr18:12416400-12420000	Weak transcription	HSMM	muscle
13	chr18:12416400-12420000	Weak transcription	HSMMtube	muscle
14	chr18:12417800-12420000	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr18:12418200-12420000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr18:12418200-12420000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr18:12418200-12430400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr18:12418800-12420000	Weak transcription	HMEC	breast
19	chr18:12419600-12420000	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr18:12419600-12420000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr18:12419600-12420400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr18:12419600-12420600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr18:12419600-12420800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr18:12419600-12421000	Active TSS	Brain Hippocampus Middle	brain
25	chr18:12419600-12421000	Active TSS	Fetal Brain Female	brain
26	chr18:12419800-12420000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr18:12419800-12420000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr18:12419800-12420000	Active TSS	Primary B cells from cord blood	blood
29	chr18:12419800-12420000	Active TSS	Primary hematopoietic stem cells short term culture	blood
30	chr18:12419800-12420000	Active TSS	Primary T helper cells PMA-I stimulated	--
31	chr18:12419800-12420000	Active TSS	Primary T helper cells fromperipheralblood	blood
32	chr18:12419800-12420000	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
33	chr18:12419800-12420000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
34	chr18:12419800-12420000	Enhancers	Primary T killer memory cells from peripheral blood	blood
35	chr18:12419800-12420000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr18:12419800-12420000	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
37	chr18:12419800-12420000	Active TSS	Adipose Nuclei	Adipose
38	chr18:12419800-12420000	Enhancers	Liver	Liver
39	chr18:12419800-12420000	Flanking Active TSS	Brain Angular Gyrus	brain
40	chr18:12419800-12420000	Enhancers	Esophagus	oesophagus
41	chr18:12419800-12420000	Active TSS	Fetal Muscle Leg	muscle
42	chr18:12419800-12420000	Enhancers	Lung	lung
43	chr18:12419800-12420000	Active TSS	Skeletal Muscle Female	skeletal muscle
44	chr18:12419800-12420000	Active TSS	Stomach Mucosa	stomach
45	chr18:12419800-12420000	Flanking Active TSS	Stomach Smooth Muscle	stomach
46	chr18:12419800-12420000	Flanking Active TSS	HepG2	liver
47	chr18:12419800-12420000	Active TSS	HUVEC	blood vessel
48	chr18:12419800-12420000	Enhancers	NHEK	skin
49	chr18:12419800-12420200	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr18:12419800-12420200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast

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