Variant report

Variant	esv2751546
Chromosome Location	chr16:12635498-12674704
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:956)
CpG islands
(count:734)
Chromatin interactive
region (count:22)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:956 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr16:12667681-12668060	HepG2	liver:	n/a	n/a
2	ARID3A	chr16:12637659-12638979	HepG2	liver:	n/a	n/a
3	ARID3A	chr16:12664201-12664286	HepG2	liver:	n/a	n/a
4	ATF1	chr16:12635640-12635845	K562	blood:	n/a	n/a
5	ATF2	chr16:12640623-12641853	GM12878	blood:	n/a	n/a
6	ATF2	chr16:12642244-12642881	GM12878	blood:	n/a	n/a
7	ATF2	chr16:12639568-12640202	GM12878	blood:	n/a	n/a
8	ATF2	chr16:12637132-12637535	GM12878	blood:	n/a	n/a
9	ATF2	chr16:12642072-12642853	GM12878	blood:	n/a	n/a
10	ATF2	chr16:12639659-12640191	GM12878	blood:	n/a	n/a
11	ATF2	chr16:12637898-12638419	GM12878	blood:	n/a	n/a
12	ATF2	chr16:12666927-12667980	GM12878	blood:	n/a	n/a
13	ATF2	chr16:12666972-12667661	GM12878	blood:	n/a	n/a
14	ATF2	chr16:12637025-12638683	GM12878	blood:	n/a	n/a
15	ATF2	chr16:12640769-12641712	GM12878	blood:	n/a	n/a
16	ATF3	chr16:12635622-12635902	K562	blood:	n/a	n/a
17	BACH1	chr16:12667697-12667939	K562	blood:	n/a	n/a
18	BATF	chr16:12642081-12642829	GM12878	blood:	n/a	n/a
19	BATF	chr16:12642156-12642469	GM12878	blood:	n/a	n/a
20	BATF	chr16:12637164-12637545	GM12878	blood:	n/a	n/a
21	BATF	chr16:12640856-12641664	GM12878	blood:	n/a	n/a
22	BATF	chr16:12637100-12637603	GM12878	blood:	n/a	n/a
23	BATF	chr16:12667208-12667587	GM12878	blood:	n/a	n/a
24	BATF	chr16:12637743-12638321	GM12878	blood:	n/a	chr16:12637886-12637896
25	BATF	chr16:12641144-12641522	GM12878	blood:	n/a	n/a
26	BCL11A	chr16:12637150-12637604	GM12878	blood:	n/a	n/a
27	BCL11A	chr16:12637166-12637556	GM12878	blood:	n/a	n/a
28	BCL11A	chr16:12637890-12638396	GM12878	blood:	n/a	n/a
29	BCL11A	chr16:12642225-12642824	GM12878	blood:	n/a	chr16:12642696-12642705
30	BCL11A	chr16:12641066-12641666	GM12878	blood:	n/a	n/a
31	BCL11A	chr16:12641124-12641591	GM12878	blood:	n/a	n/a
32	BCL3	chr16:12641071-12641581	GM12878	blood:	n/a	n/a
33	BCL3	chr16:12667189-12667642	GM12878	blood:	n/a	n/a
34	BCL3	chr16:12641073-12641684	GM12878	blood:	n/a	n/a
35	BCL3	chr16:12667035-12667697	GM12878	blood:	n/a	n/a
36	BCL3	chr16:12642227-12642860	GM12878	blood:	n/a	chr16:12642696-12642705
37	BCL3	chr16:12637811-12638327	GM12878	blood:	n/a	n/a
38	BCL3	chr16:12637165-12637549	GM12878	blood:	n/a	n/a
39	BCLAF1	chr16:12637158-12638446	GM12878	blood:	n/a	n/a
40	BCLAF1	chr16:12640683-12641726	GM12878	blood:	n/a	n/a
41	BCLAF1	chr16:12666973-12667572	GM12878	blood:	n/a	n/a
42	BCLAF1	chr16:12640983-12641815	GM12878	blood:	n/a	n/a
43	BCLAF1	chr16:12637669-12638335	GM12878	blood:	n/a	n/a
44	BCLAF1	chr16:12667037-12667943	GM12878	blood:	n/a	n/a
45	BCLAF1	chr16:12637031-12637643	GM12878	blood:	n/a	n/a
46	BHLHE40	chr16:12641903-12642324	GM12878	blood:	n/a	n/a
47	BHLHE40	chr16:12639724-12639965	GM12878	blood:	n/a	n/a
48	BHLHE40	chr16:12635567-12635885	K562	blood:	n/a	n/a
49	BHLHE40	chr16:12667748-12667970	K562	blood:	n/a	n/a
50	BHLHE40	chr16:12637849-12638304	GM12878	blood:	n/a	n/a

(count:734 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:12667646-12667696	NH-A	brain:	n/a
2	chr16:12664318-12664368	ECC-1	luminal epithelium:	n/a
3	chr16:12667646-12667696	NH-A	brain:	n/a
4	chr16:12664318-12664368	ECC-1	luminal epithelium:	n/a
5	chr16:12656958-12657008	AoSMC	blood vessel:	n/a
6	chr16:12664318-12664368	HIPEpiC	eye:	n/a
7	chr16:12667646-12667696	GM12891	blood:	n/a
8	chr16:12659137-12659187	LNCaP	prostate:	n/a
9	chr16:12659137-12659187	NB4	blood:	n/a
10	chr16:12659137-12659187	Jurkat	blood:	n/a
11	chr16:12662474-12662524	GM12878	blood:	n/a
12	chr16:12662374-12662424	HL-60	blood:	n/a
13	chr16:12659137-12659187	GM19239	blood:	n/a
14	chr16:12637499-12637549	HUVEC	blood vessel:	n/a
15	chr16:12657151-12657201	AG04449	skin:	fetal
16	chr16:12662374-12662424	NHBE	bronchial:	n/a
17	chr16:12656958-12657008	NHBE	bronchial:	n/a
18	chr16:12661268-12661318	HAEpiC	amniotic membrane:	n/a
19	chr16:12665018-12665068	PANC-1	pancreas:	n/a
20	chr16:12662581-12662631	MCF-7	breast:	n/a
21	chr16:12657151-12657201	HEEpiC	esophagus:	n/a
22	chr16:12662474-12662524	SAEC	small airway:	n/a
23	chr16:12665018-12665068	LNCaP	prostate:	n/a
24	chr16:12656958-12657008	SAEC	small airway:	n/a
25	chr16:12661268-12661318	BE2_C	brain:	n/a
26	chr16:12656958-12657008	H1-hESC	embryonic stem cell:	embryo
27	chr16:12662374-12662424	HIPEpiC	eye:	n/a
28	chr16:12662581-12662631	K562	blood:	n/a
29	chr16:12665018-12665068	NT2-D1	testis:	n/a
30	chr16:12662659-12662709	LNCaP	prostate:	n/a
31	chr16:12667646-12667696	CMK	blood:	n/a
32	chr16:12656958-12657008	HCM	heart:	n/a
33	chr16:12656958-12657008	SK-N-MC	brain:	n/a
34	chr16:12657151-12657201	ECC-1	luminal epithelium:	n/a
35	chr16:12659137-12659187	GM12892	blood:	n/a
36	chr16:12661268-12661318	HRE	kidney:	n/a
37	chr16:12667646-12667696	HAEpiC	amniotic membrane:	n/a
38	chr16:12659137-12659187	HRCEpiC	kidney:	n/a
39	chr16:12661268-12661318	MCF-7	breast:	n/a
40	chr16:12665018-12665068	AG04449	skin:	fetal
41	chr16:12662474-12662524	HCM	heart:	n/a
42	chr16:12657151-12657201	HepG2	liver:	n/a
43	chr16:12667646-12667696	HRE	kidney:	n/a
44	chr16:12662374-12662424	HCM	heart:	n/a
45	chr16:12656958-12657008	HCT-116	colon:	n/a
46	chr16:12662581-12662631	IMR90	lung:	fetal
47	chr16:12661268-12661318	HL-60	blood:	n/a
48	chr16:12662474-12662524	NH-A	brain:	n/a
49	chr16:12661268-12661318	ovcar-3	ovarian:	n/a
50	chr16:12637499-12637549	SK-N-SH_RA	brain:	n/a

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:12667422..12668391-chr16:12912804..12913870,6	MCF-7	breast:
2	chr16:12667378..12668264-chr16:12909027..12909976,6	MCF-7	breast:
3	chr16:12667239..12668915-chr16:12896290..12899009,2	MCF-7	breast:
4	chr16:12646912..12648633-chr16:12652435..12654729,2	K562	blood:
5	chr16:12667311..12668307-chr16:12912660..12913925,10	K562	blood:
6	chr16:12667303..12668256-chr16:12994641..12995560,2	MCF-7	breast:
7	chr16:12646912..12648633-chr16:12652435..12654729,2	K562	blood:
8	chr16:12664367..12666728-chr16:12670658..12673027,2	K562	blood:
9	chr16:12651809..12653725-chr16:12657374..12659013,2	MCF-7	breast:
10	chr16:12666208..12667949-chr16:12909884..12912499,2	K562	blood:
11	chr16:12656706..12658781-chr16:12659071..12661791,2	MCF-7	breast:
12	chr16:12667763..12668530-chr16:12912908..12913815,2	MCF-7	breast:
13	chr16:12651809..12653725-chr16:12657374..12659013,2	MCF-7	breast:
14	chr16:12667441..12668160-chr16:12908986..12909620,2	K562	blood:
15	chr16:12548883..12549752-chr16:12667238..12668263,4	MCF-7	breast:
16	chr16:12667431..12668234-chr16:12930367..12931210,2	MCF-7	breast:
17	chr16:12664367..12666728-chr16:12670658..12673027,2	K562	blood:
18	chr16:12652319..12653186-chr16:12913152..12913807,2	MCF-7	breast:
19	chr16:12633130..12635327-chr16:12640812..12643626,2	K562	blood:
20	chr16:12656706..12658781-chr16:12659071..12661791,2	MCF-7	breast:
21	chr16:12434411..12435246-chr16:12667446..12668002,2	MCF-7	breast:
22	chr16:12667518..12668062-chr16:12712002..12712507,2	MCF-7	breast:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CPPED1-3	chr16:12651176-12651551	ENSG00000259876.1
2	lnc-SHISA9-4	chr16:12639339-12639458	ENSG00000260601.1
3	lnc-SHISA9-4	chr16:12640142-12640541	ENSG00000260601.1
4	lnc-CPPED1-3	chr16:12650210-12650396	ENSG00000259876.1
5	lnc-CPPED1-2	chr16:12654613-12655003	ENSG00000259899.1

No data

Variant related genes	Relation type
ENSG00000260601	TF binding region
ENSG00000259876	TF binding region
ENSG00000260601	CpG island
ENSG00000259876	CpG island
ENSG00000237515	chromatin interactions
ENSG00000103381	chromatin interactions

Extended variants
information (count: 6364 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:6364 , 50 per page) page: 1 2 3 4 5 6 7 ... 128

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7500082	chr16:12635498-12635499	Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs543754421	chr16:12635504-12635505	Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs563468250	chr16:12635507-12635508	Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs557716389	chr16:12635514-12635515	Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs186926847	chr16:12635522-12635523	Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs8057439	chr16:12635529-12635530	Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs4781250	chr16:12635533-12635534	Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs547338297	chr16:12635547-12635548	Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs151217742	chr16:12635553-12635554	Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs1007324	chr16:12635554-12635555	Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs550431074	chr16:12635565-12635566	Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs570302543	chr16:12635566-12635567	Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs140421220	chr16:12635572-12635573	Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs368783888	chr16:12635573-12635574	Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs555692386	chr16:12635574-12635575	Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs565723933	chr16:12635577-12635578	Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs79270552	chr16:12635582-12635583	Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs79440189	chr16:12635583-12635584	Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs137883461	chr16:12635585-12635586	Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs8062733	chr16:12635590-12635591	Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs191828632	chr16:12635593-12635594	Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs573890277	chr16:12635594-12635595	Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs184437808	chr16:12635602-12635603	Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs187776514	chr16:12635603-12635604	Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs16959859	chr16:12635613-12635614	Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs192725005	chr16:12635619-12635620	Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs368286390	chr16:12635627-12635628	Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs144661939	chr16:12635628-12635629	Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs533155363	chr16:12635636-12635637	Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs371879745	chr16:12635639-12635640	Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs376808526	chr16:12635648-12635649	Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs545087875	chr16:12635653-12635654	Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs563967285	chr16:12635655-12635656	Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs185418069	chr16:12635663-12635664	Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs114580646	chr16:12635664-12635665	Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs74458523	chr16:12635669-12635670	Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs535266669	chr16:12635676-12635677	Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs551479094	chr16:12635678-12635679	Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs529199835	chr16:12635687-12635688	Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs530468679	chr16:12635689-12635690	Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs189548033	chr16:12635694-12635695	Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs544206000	chr16:12635699-12635700	Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs537034723	chr16:12635714-12635715	Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs112280081	chr16:12635717-12635718	Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs573829576	chr16:12635720-12635721	Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs536175910	chr16:12635721-12635722	Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs553096149	chr16:12635727-12635728	Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs572681444	chr16:12635728-12635729	Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs544853603	chr16:12635734-12635735	Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs144357141	chr16:12635738-12635739	Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	17603634	CNVD
Hodgkin''s lymphoma	20651079	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	18172304	CNVD
Breast cancer	16608533	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Autism	22566537	CNVD
Intellectual disability	22566537	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Schizophrenia	22958593	CNVD
Lung cancer	18438408	CNVD
Ductal carcinoma	22052326	CNVD
Breast cancer	21509527	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22102821	CNVD
Autism	22495311	CNVD
idiopathic generalized epilepsy	19843651	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Intellectual disability	22102821	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Prostate cancer	18632612	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	20553308	CNVD
Autism	19786961	CNVD
Mental retardation	19786961	CNVD
Schizophrenia	19786961	CNVD
Mental retardation	19951919	CNVD
Autism	18791038	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Malignant germ cell tumour	17285132	CNVD
Autism	17480035	CNVD
Schizophrenia	19955444	CNVD
Breast cancer	21858162	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	17847001	CNVD
Schizophrenia	23813976	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:598 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12613000-12670800	Weak transcription	Pancreas	Pancrea
2	chr16:12625800-12643400	Weak transcription	Gastric	stomach
3	chr16:12626800-12636000	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr16:12627000-12642200	Weak transcription	Right Ventricle	heart
5	chr16:12627400-12635800	Weak transcription	Fetal Brain Male	brain
6	chr16:12630400-12637000	Weak transcription	Primary T cells from cord blood	blood
7	chr16:12630400-12638800	Weak transcription	Fetal Thymus	thymus
8	chr16:12630600-12637200	Weak transcription	Spleen	Spleen
9	chr16:12632400-12635600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr16:12632800-12637000	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr16:12632800-12638600	Weak transcription	Lung	lung
12	chr16:12632800-12640200	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr16:12632800-12641000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr16:12632800-12646600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr16:12632800-12663800	Weak transcription	Aorta	Aorta
16	chr16:12633000-12638400	Weak transcription	Brain Angular Gyrus	brain
17	chr16:12633000-12638400	Weak transcription	Brain Hippocampus Middle	brain
18	chr16:12633000-12646600	Weak transcription	Brain Cingulate Gyrus	brain
19	chr16:12633200-12638400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr16:12633200-12640600	Weak transcription	Stomach Mucosa	stomach
21	chr16:12633200-12640800	Weak transcription	Duodenum Mucosa	Duodenum
22	chr16:12633400-12636000	Weak transcription	Primary B cells from peripheral blood	blood
23	chr16:12633400-12654400	Weak transcription	Stomach Smooth Muscle	stomach
24	chr16:12633600-12637400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr16:12633600-12638400	Weak transcription	Brain Substantia Nigra	brain
26	chr16:12633600-12639000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr16:12633600-12640000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr16:12633800-12636800	Weak transcription	HSMMtube	muscle
29	chr16:12633800-12637200	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr16:12633800-12637800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr16:12633800-12640000	Weak transcription	NHEK	skin
32	chr16:12634000-12637600	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr16:12634200-12638600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr16:12634200-12640600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr16:12634400-12635600	Enhancers	Esophagus	oesophagus
36	chr16:12634400-12637600	Weak transcription	Primary monocytes fromperipheralblood	blood
37	chr16:12634400-12638000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr16:12634600-12635600	Weak transcription	HSMM	muscle
39	chr16:12634600-12636400	Strong transcription	Primary B cells from cord blood	blood
40	chr16:12635000-12635800	Flanking Active TSS	GM12878-XiMat	blood
41	chr16:12635000-12644200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr16:12635200-12635600	Enhancers	K562	blood
43	chr16:12635200-12638600	Weak transcription	Primary T cells fromperipheralblood	blood
44	chr16:12635400-12635800	Enhancers	Brain Inferior Temporal Lobe	brain
45	chr16:12635400-12637200	Enhancers	HepG2	liver
46	chr16:12635400-12639000	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr16:12635400-12640600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr16:12635600-12635800	Bivalent Enhancer	K562	blood
49	chr16:12635600-12636000	Enhancers	HSMM	muscle
50	chr16:12635600-12639200	Weak transcription	Esophagus	oesophagus

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links