Variant report

Variant	esv2757289
Chromosome Location	chr8:121765701-121828919
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1610)
CpG islands
(count:1346)
Chromatin interactive
region (count:15)
LncRNA
region (count:9)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1610 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr8:121792503-121792621	HepG2	liver:	n/a	n/a
2	ARID3A	chr8:121827353-121827894	HepG2	liver:	n/a	n/a
3	ARID3A	chr8:121787349-121787940	HepG2	liver:	n/a	n/a
4	ARID3A	chr8:121820764-121822910	HepG2	liver:	n/a	n/a
5	ARID3A	chr8:121823133-121823596	HepG2	liver:	n/a	n/a
6	ARID3A	chr8:121774360-121775055	HepG2	liver:	n/a	n/a
7	ARID3A	chr8:121789991-121790686	HepG2	liver:	n/a	n/a
8	ARID3A	chr8:121772245-121772684	HepG2	liver:	n/a	n/a
9	ATF2	chr8:121821931-121822462	GM12878	blood:	n/a	n/a
10	ATF2	chr8:121769602-121769939	GM12878	blood:	n/a	n/a
11	ATF2	chr8:121820670-121821206	H1-hESC	embryonic stem cell:	n/a	n/a
12	ATF2	chr8:121821848-121822320	GM12878	blood:	n/a	n/a
13	ATF2	chr8:121769503-121769945	GM12878	blood:	n/a	n/a
14	ATF2	chr8:121821389-121821891	GM12878	blood:	n/a	n/a
15	ATF3	chr8:121822013-121822238	HepG2	liver:	n/a	n/a
16	BACH1	chr8:121824216-121824835	H1-hESC	embryonic stem cell:	n/a	n/a
17	BACH1	chr8:121823428-121823632	H1-hESC	embryonic stem cell:	n/a	n/a
18	BATF	chr8:121822074-121822358	GM12878	blood:	n/a	n/a
19	BATF	chr8:121769573-121769922	GM12878	blood:	n/a	n/a
20	BATF	chr8:121822014-121822435	GM12878	blood:	n/a	n/a
21	BATF	chr8:121769422-121770001	GM12878	blood:	n/a	n/a
22	BCL11A	chr8:121821994-121822272	GM12878	blood:	n/a	n/a
23	BCL11A	chr8:121769593-121769981	GM12878	blood:	n/a	n/a
24	BCL11A	chr8:121821370-121821619	GM12878	blood:	n/a	n/a
25	BCL3	chr8:121792468-121792684	GM12878	blood:	n/a	chr8:121792623-121792632
26	BCLAF1	chr8:121821884-121822356	GM12878	blood:	n/a	n/a
27	BHLHE40	chr8:121822735-121823682	HepG2	liver:	n/a	n/a
28	BHLHE40	chr8:121821796-121822275	HepG2	liver:	n/a	n/a
29	BHLHE40	chr8:121821008-121821140	K562	blood:	n/a	n/a
30	BHLHE40	chr8:121769627-121770156	GM12878	blood:	n/a	n/a
31	BHLHE40	chr8:121794558-121794580	GM12878	blood:	n/a	n/a
32	BHLHE40	chr8:121821494-121822480	HepG2	liver:	n/a	n/a
33	BHLHE40	chr8:121824079-121824716	HepG2	liver:	n/a	chr8:121824487-121824503
34	BHLHE40	chr8:121787443-121787793	HepG2	liver:	n/a	n/a
35	BHLHE40	chr8:121820917-121823751	GM12878	blood:	n/a	n/a
36	BHLHE40	chr8:121824200-121824751	GM12878	blood:	n/a	chr8:121824487-121824503
37	BHLHE40	chr8:121821793-121822200	HepG2	liver:	n/a	n/a
38	BRCA1	chr8:121798092-121798460	Hela-S3	cervix:	n/a	n/a
39	CEBPB	chr8:121765383-121765731	Hela-S3	cervix:	n/a	chr8:121765553-121765562 chr8:121765553-121765562 chr8:121765551-121765562 chr8:121765553-121765562 chr8:121765551-121765564
40	CEBPB	chr8:121821953-121823272	IMR90	lung:	n/a	n/a
41	CEBPB	chr8:121790388-121790781	Hela-S3	cervix:	n/a	chr8:121790571-121790582 chr8:121790573-121790582
42	CEBPB	chr8:121814936-121815043	HepG2	liver:	n/a	chr8:121814963-121814974
43	CEBPB	chr8:121770285-121770286	A549	lung:	n/a	n/a
44	CEBPB	chr8:121824184-121824557	HepG2	liver:	n/a	n/a
45	CEBPB	chr8:121776120-121776430	IMR90	lung:	n/a	n/a
46	CEBPB	chr8:121810065-121810187	IMR90	lung:	n/a	chr8:121810103-121810114
47	CEBPB	chr8:121783573-121783910	Hela-S3	cervix:	n/a	chr8:121783747-121783760 chr8:121783747-121783758 chr8:121783748-121783759
48	CEBPB	chr8:121821916-121822440	A549	lung:	n/a	n/a
49	CEBPB	chr8:121821714-121822356	HepG2	liver:	n/a	n/a
50	CEBPB	chr8:121790172-121790746	HepG2	liver:	n/a	chr8:121790571-121790582 chr8:121790573-121790582

(count:1346 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:121825470-121825520	A549	lung:	n/a
2	chr8:121823916-121823966	HL-60	blood:	n/a
3	chr8:121824467-121824517	SKMC	muscle:	n/a
4	chr8:121824330-121824380	HCF	heart:	n/a
5	chr8:121825470-121825520	A549	lung:	n/a
6	chr8:121823916-121823966	HL-60	blood:	n/a
7	chr8:121824467-121824517	SKMC	muscle:	n/a
8	chr8:121824330-121824380	HCF	heart:	n/a
9	chr8:121824433-121824483	MCF10A-Er-Src	breast:	n/a
10	chr8:121824218-121824268	U87	brain:	n/a
11	chr8:121821052-121821102	H1-hESC	embryonic stem cell:	embryo
12	chr8:121824929-121824979	HL-60	blood:	n/a
13	chr8:121825470-121825520	Hepatocyte	liver:	n/a
14	chr8:121827961-121828011	PFSK-1	brain:	n/a
15	chr8:121791273-121791323	HPAEpiC	pulmonary alveolar:	n/a
16	chr8:121821052-121821102	MCF-7	breast:	n/a
17	chr8:121821052-121821102	T-47D	breast:	n/a
18	chr8:121824419-121824469	HIPEpiC	eye:	n/a
19	chr8:121824330-121824380	LNCaP	prostate:	n/a
20	chr8:121775052-121775102	ovcar-3	ovarian:	n/a
21	chr8:121824742-121824792	Jurkat	blood:	n/a
22	chr8:121791273-121791323	HRPEpiC	eye:	n/a
23	chr8:121824433-121824483	ovcar-3	ovarian:	n/a
24	chr8:121775052-121775102	SKMC	muscle:	n/a
25	chr8:121824467-121824517	U87	brain:	n/a
26	chr8:121825470-121825520	AoSMC	blood vessel:	n/a
27	chr8:121824742-121824792	A549	lung:	n/a
28	chr8:121824678-121824728	ProgFib	skin:	n/a
29	chr8:121823462-121823512	GM12891	blood:	n/a
30	chr8:121798364-121798414	HRE	kidney:	n/a
31	chr8:121824330-121824380	Jurkat	blood:	n/a
32	chr8:121825470-121825520	NH-A	brain:	n/a
33	chr8:121768955-121769005	HRPEpiC	eye:	n/a
34	chr8:121775052-121775102	Hepatocyte	liver:	n/a
35	chr8:121824433-121824483	Jurkat	blood:	n/a
36	chr8:121791273-121791323	Hela-S3	cervix:	n/a
37	chr8:121824678-121824728	SK-N-MC	brain:	n/a
38	chr8:121824742-121824792	PrEC	prostate:	n/a
39	chr8:121824405-121824455	HCF	heart:	n/a
40	chr8:121798364-121798414	HEK293	kidney:	embryo
41	chr8:121822473-121822523	RPTEC	kidney:	n/a
42	chr8:121824330-121824380	SK-N-SH	brain:	n/a
43	chr8:121824678-121824728	GM12891	blood:	n/a
44	chr8:121824488-121824538	AG04449	skin:	fetal
45	chr8:121824405-121824455	BJ	skin:	n/a
46	chr8:121821052-121821102	GM06990	blood:	n/a
47	chr8:121821052-121821102	GM12891	blood:	n/a
48	chr8:121822473-121822523	HCPEpiC	choroid plexus:	n/a
49	chr8:121825470-121825520	HRPEpiC	eye:	n/a
50	chr8:121821052-121821102	U87	brain:	n/a

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:121820684..121821811-chr8:121951035..121951836,4	MCF-7	breast:
2	chr8:121820878..121821805-chr8:121881097..121881747,2	MCF-7	breast:
3	chr8:121777510..121779524-chr8:121820645..121822626,2	MCF-7	breast:
4	chr8:121784777..121787766-chr8:121788078..121790485,2	MCF-7	breast:
5	chr3:101317910..101318802-chr8:121766187..121766798,2	MCF-7	breast:
6	chr8:121820504..121821998-chr8:121950958..121951966,14	MCF-7	breast:
7	chr8:121820968..121821651-chr8:121880472..121881467,2	MCF-7	breast:
8	chr8:121820782..121821507-chr8:121968793..121969488,2	MCF-7	breast:
9	chr8:121787117..121787954-chr8:121833681..121834512,2	MCF-7	breast:
10	chr8:121822883..121826254-chr8:121826356..121829180,4	MCF-7	breast:
11	chr8:121784777..121787766-chr8:121788078..121790485,2	MCF-7	breast:
12	chr8:121818871..121819911-chr8:121950995..121952120,3	MCF-7	breast:
13	chr8:121820905..121821755-chr8:121862259..121862768,2	MCF-7	breast:
14	chr8:121794712..121796802-chr8:121833673..121835489,2	K562	blood:
15	chr8:121777510..121779524-chr8:121820645..121822626,2	MCF-7	breast:

(count:9 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MTBP-1	chr8:121773493-121773612	ENSG00000248318.1
2	lnc-MTBP-5	chr8:121824459-121825599	ENSG00000272502.1
3	lnc-MTBP-1	chr8:121788599-121789072	ENSG00000248318.1
4	lnc-MTBP-1	chr8:121782479-121782548	NONHSAT128457
5	lnc-MTBP-1	chr8:121787515-121787766	NONHSAT128457
6	lnc-MTBP-1	chr8:121787515-121787766	ENSG00000248318.1
7	lnc-MTBP-1	chr8:121778018-121778104	ENSG00000248318.1
8	lnc-MTBP-1	chr8:121780899-121781938	ENSG00000248318.1
9	lnc-MTBP-1	chr8:121788599-121788759	NONHSAT128457

No data

Variant related genes	Relation type
ENSG00000248318	TF binding region
ENSG00000272502	TF binding region
SNTB1	TF binding region
ENSG00000248318	CpG island
ENSG00000272502	CpG island
SNTB1	CpG island
ENSG00000172164	chromatin interactions
ENSG00000243396	chromatin interactions
ENSG00000272502	chromatin interactions

Extended variants
information (count: 2291 )
Associated
traits (count: 142 )

Variant overlapped rSNPs/rCNVs (count:2291 , 50 per page) page: 1 2 3 4 5 6 7 ... 46

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4871124	chr8:121765701-121765702	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs115773216	chr8:121765741-121765742	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs4870750	chr8:121765838-121765839	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs576642721	chr8:121765866-121765867	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs545864983	chr8:121765892-121765893	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs573321693	chr8:121765914-121765915	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs543769528	chr8:121765954-121765955	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs563650106	chr8:121765990-121765991	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs371047327	chr8:121766001-121766002	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs190595699	chr8:121766024-121766025	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs4871125	chr8:121766060-121766061	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs546177184	chr8:121766170-121766171	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs61087167	chr8:121766206-121766207	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs183556835	chr8:121766207-121766208	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs547146368	chr8:121766224-121766225	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs562138235	chr8:121766329-121766330	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs143410867	chr8:121766359-121766360	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs146576612	chr8:121766364-121766365	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs73707103	chr8:121766424-121766425	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs141012575	chr8:121766432-121766433	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs186363594	chr8:121766439-121766440	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs548158226	chr8:121766446-121766447	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs566686400	chr8:121766460-121766461	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs533709785	chr8:121766462-121766463	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs371133237	chr8:121766479-121766480	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs555057499	chr8:121766528-121766529	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs541705549	chr8:121766578-121766579	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs73323165	chr8:121766594-121766595	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs537452435	chr8:121766609-121766610	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs556171306	chr8:121766655-121766656	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs577556423	chr8:121766671-121766672	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs529602218	chr8:121766732-121766733	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs370260369	chr8:121766744-121766745	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs546512557	chr8:121766752-121766753	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs150221743	chr8:121766763-121766764	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs145680874	chr8:121766817-121766818	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs540797901	chr8:121766821-121766822	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs34720806	chr8:121766847-121766848	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs34195100	chr8:121766854-121766855	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs148934967	chr8:121766884-121766885	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs562932564	chr8:121766893-121766894	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs533150982	chr8:121766915-121766916	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs551676009	chr8:121766966-121766967	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs561910949	chr8:121767114-121767115	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs190912469	chr8:121767147-121767148	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs548722476	chr8:121767180-121767181	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs567122560	chr8:121767254-121767255	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs143809074	chr8:121767265-121767266	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs555970245	chr8:121767326-121767327	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs182678296	chr8:121767336-121767337	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:142)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Gastric cancer	17908304	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Testicular cancer	18059402	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
abnormal development	18461090	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	17603634	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	16751803	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Non-small cell lung cancer	19010865	CNVD
small cell lung cancer	20016488	CNVD
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD
Breast cancer	20932292	CNVD
Gastric cancer	22539939	CNVD
Breast cancer	22056952	CNVD
Langer-Giedion syndrome	16773131	CNVD
Lung cancer	16740712	CNVD
Mental retardation	16773131	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Langer-Giedion syndrome	22470819	CNVD
Cornelia de Lange syndrome	24599119	CNVD
Gastric cancer	21528007	CNVD
Breast cancer	22532251	CNVD
Cervical cancer	21062161	CNVD
Cancer	21129771	CNVD
benign familial neonatal convulsions	18472482	CNVD
Breast cancer	16417655	CNVD
Astrocytoma	17387387	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
T-cell lymphomas	19863542	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	20607354	CNVD
Breast cancer	20814816	CNVD
Colorectal cancer	22486879	CNVD
Breast cancer	17908964	CNVD
Colorectal cancer	20031965	CNVD
Hepatocellular carcinoma	16750200	CNVD
Ovarian cancer	17908964	CNVD
Ovarian cancer	20031965	CNVD
Prostate cancer	20031965	CNVD
Non-small cell lung cancer	17643093	CNVD
Prostate cancer	19242612	CNVD
Colorectal cancer	16774939	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	18628472	CNVD
Malignant melanoma	17260012	CNVD
Breast cancer	18698023	CNVD
Multiple myeloma	16461302	CNVD
Uveal melanoma	20484589	CNVD
head and neck squamous cell carcinoma	16740747	CNVD
Breast cancer	19181860	CNVD
Endometrial cancer	23636398	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	16397240	CNVD
Multiple myeloma	16616336	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Breast cancer	21364760	CNVD
Oral squamous cell carcinoma	21853135	CNVD
Prostate cancer	22341455	CNVD
Cancer	20164919	CNVD
Colorectal cancer	21645411	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD
Burkitt''s lymphoma	20823134	CNVD

Chromatin state (count:1960 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121745800-121774200	Weak transcription	Fetal Stomach	stomach
2	chr8:121758200-121768600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr8:121758200-121774400	Weak transcription	Left Ventricle	heart
4	chr8:121758400-121769200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr8:121758400-121769400	Weak transcription	HSMM	muscle
6	chr8:121758400-121769400	Weak transcription	NHLF	lung
7	chr8:121758400-121770600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr8:121758400-121771800	Weak transcription	Pancreas	Pancrea
9	chr8:121758400-121774400	Weak transcription	Lung	lung
10	chr8:121761200-121789400	Weak transcription	Fetal Kidney	kidney
11	chr8:121762000-121774200	Weak transcription	Fetal Muscle Leg	muscle
12	chr8:121762200-121766400	Enhancers	Primary T killer memory cells from peripheral blood	blood
13	chr8:121762200-121766600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr8:121762800-121766600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr8:121763200-121769400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr8:121763200-121781600	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr8:121763400-121765800	Weak transcription	Primary hematopoietic stem cells	blood
18	chr8:121763400-121769600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr8:121763400-121770000	Weak transcription	Liver	Liver
20	chr8:121763800-121769200	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr8:121763800-121769800	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr8:121764200-121769400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr8:121764400-121765800	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr8:121764400-121766000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr8:121764400-121766600	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr8:121764400-121767600	Weak transcription	HSMMtube	muscle
27	chr8:121764400-121769400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr8:121764400-121769400	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr8:121764400-121769400	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr8:121764400-121780200	Weak transcription	Primary B cells from cord blood	blood
31	chr8:121764600-121769200	Weak transcription	Primary T cells from cord blood	blood
32	chr8:121765000-121767400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr8:121765200-121765800	Enhancers	Monocytes-CD14+_RO01746	blood
34	chr8:121765200-121766000	Enhancers	Psoas Muscle	Psoas
35	chr8:121765200-121767200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
36	chr8:121765400-121766800	Enhancers	Primary T helper cells PMA-I stimulated	--
37	chr8:121765400-121767400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
38	chr8:121765400-121772200	Genic enhancers	HepG2	liver
39	chr8:121765600-121769600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr8:121765800-121766400	Enhancers	Skeletal Muscle Female	skeletal muscle
41	chr8:121765800-121767600	Strong transcription	Primary hematopoietic stem cells	blood
42	chr8:121765800-121769400	Weak transcription	Monocytes-CD14+_RO01746	blood
43	chr8:121766000-121769400	Weak transcription	Psoas Muscle	Psoas
44	chr8:121766000-121773000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
45	chr8:121766400-121767000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr8:121766400-121768000	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr8:121766600-121767400	Enhancers	Primary T helper cells fromperipheralblood	blood
48	chr8:121766600-121767800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
49	chr8:121766600-121770400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr8:121766800-121767200	Weak transcription	Primary T helper cells PMA-I stimulated	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links