Variant report

Variant	nsv976010
Chromosome Location	chr11:71378700-71400357
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:63)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:63 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF3	chr11:71390992-71391254	K562	blood:	n/a	n/a
2	BATF	chr11:71398779-71399009	GM12878	blood:	n/a	n/a
3	BATF	chr11:71398772-71399069	GM12878	blood:	n/a	n/a
4	BCL11A	chr11:71398722-71399032	GM12878	blood:	n/a	chr11:71398860-71398869
5	BCL11A	chr11:71398790-71398946	GM12878	blood:	n/a	chr11:71398860-71398869
6	CBX3	chr11:71399735-71400056	K562	blood:	n/a	n/a
7	CEBPB	chr11:71391072-71391259	A549	lung:	n/a	n/a
8	CEBPB	chr11:71391058-71391271	K562	blood:	n/a	n/a
9	CEBPB	chr11:71391030-71391243	K562	blood:	n/a	n/a
10	CEBPB	chr11:71391065-71391214	H1-hESC	embryonic stem cell:	n/a	n/a
11	CEBPB	chr11:71390962-71391259	K562	blood:	n/a	n/a
12	CEBPD	chr11:71399692-71400175	K562	blood:	n/a	n/a
13	CTCF	chr11:71395366-71395420	GM20000	blood:	n/a	n/a
14	EBF1	chr11:71398341-71398685	GM12878	blood:	n/a	n/a
15	EBF1	chr11:71381775-71381993	GM12878	blood:	n/a	chr11:71381856-71381869 chr11:71381858-71381867
16	EBF1	chr11:71398397-71398763	GM12878	blood:	n/a	n/a
17	EP300	chr11:71399810-71399820	K562	blood:	n/a	n/a
18	EP300	chr11:71381776-71382027	GM12878	blood:	n/a	n/a
19	FOSL2	chr11:71381763-71382020	HepG2	liver:	n/a	n/a
20	FOXA1	chr11:71395853-71396277	HepG2	liver:	n/a	n/a
21	GABPA	chr11:71400230-71400341	Hela-S3	cervix:	n/a	n/a
22	GABPA	chr11:71398273-71398463	Hela-S3	cervix:	n/a	n/a
23	GABPA	chr11:71399822-71400151	Hela-S3	cervix:	n/a	n/a
24	GATA1	chr11:71399305-71400000	PBDE	blood:	n/a	n/a
25	GATA2	chr11:71399656-71400183	K562	blood:	n/a	n/a
26	HEY1	chr11:71396175-71396420	HepG2	liver:	n/a	n/a
27	IRF4	chr11:71381665-71382063	GM12878	blood:	n/a	n/a
28	IRF4	chr11:71398227-71398501	GM12878	blood:	n/a	n/a
29	IRF4	chr11:71398715-71399039	GM12878	blood:	n/a	n/a
30	IRF4	chr11:71398757-71399035	GM12878	blood:	n/a	n/a
31	JUND	chr11:71391060-71391264	K562	blood:	n/a	n/a
32	NR2F2	chr11:71399747-71400091	K562	blood:	n/a	n/a
33	PAX5	chr11:71400204-71400485	GM12878	blood:	n/a	n/a
34	PAX5	chr11:71398313-71398674	GM12878	blood:	n/a	n/a
35	PAX5	chr11:71400212-71400483	GM12878	blood:	n/a	n/a
36	PAX5	chr11:71398393-71398637	GM12878	blood:	n/a	n/a
37	PAX5	chr11:71400076-71400593	GM12878	blood:	n/a	n/a
38	PBX3	chr11:71383389-71383510	GM12878	blood:	n/a	n/a
39	POLR2A	chr11:71400053-71400085	K562	blood:	n/a	n/a
40	POLR2A	chr11:71384541-71384583	K562	blood:	n/a	n/a
41	POLR2A	chr11:71388356-71394404	K562	blood:	n/a	n/a
42	POLR2A	chr11:71394645-71397211	K562	blood:	n/a	n/a
43	POLR2A	chr11:71386903-71387368	K562	blood:	n/a	n/a
44	POLR2A	chr11:71397567-71399826	K562	blood:	n/a	n/a
45	POLR2A	chr11:71385566-71386042	K562	blood:	n/a	n/a
46	POLR2A	chr11:71387577-71388114	K562	blood:	n/a	n/a
47	POLR2A	chr11:71400355-71404227	K562	blood:	n/a	n/a
48	POLR2A	chr11:71386409-71386695	K562	blood:	n/a	n/a
49	POU2F2	chr11:71400084-71400511	GM12878	blood:	n/a	n/a
50	POU2F2	chr11:71398257-71399024	GM12878	blood:	n/a	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AP000867.1-2	chr11:71383721-71384047	ENSG00000254504.1
2	lnc-FAM86C1-4	chr11:71393417-71393825	expRegAs_chr11_7370_+
3	lnc-FAM86C1-2	chr11:71395710-71396117	expRegAs_chr11_7374_+
4	lnc-FAM86C1-5	chr11:71392883-71393202	expRegAs_chr11_7367_+
5	lnc-FAM86C1-3	chr11:71394183-71394998	expRegAs_chr11_7373_+

No data

Variant related genes	Relation type
ENSG00000221458	TF binding region
RPS3AP41	TF binding region

Extended variants
information (count: 1156 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:1156 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568295033	chr11:71378715-71378716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs535688601	chr11:71378724-71378725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs554160966	chr11:71378738-71378739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs566410420	chr11:71378745-71378746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs539405015	chr11:71378756-71378757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs7948230	chr11:71378829-71378830	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs576570012	chr11:71378856-71378857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs181066855	chr11:71378897-71378898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs555924650	chr11:71378916-71378917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs377368824	chr11:71378945-71378946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs558957699	chr11:71378946-71378947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs577160342	chr11:71378953-71378954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs541258627	chr11:71378957-71378958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs9704941	chr11:71378960-71378961	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs144635439	chr11:71378994-71378995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs544637351	chr11:71379022-71379023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs186047360	chr11:71379025-71379026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs189724326	chr11:71379031-71379032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs530453389	chr11:71379067-71379068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs7951341	chr11:71379081-71379082	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs567065914	chr11:71379092-71379093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs529462668	chr11:71379105-71379106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs7948335	chr11:71379111-71379112	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs566202808	chr11:71379122-71379123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs181108115	chr11:71379146-71379147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs185942937	chr11:71379148-71379149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs570043742	chr11:71379180-71379181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs537476342	chr11:71379194-71379195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs200568512	chr11:71379233-71379234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs201395305	chr11:71379234-71379235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs199868771	chr11:71379252-71379253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs190357845	chr11:71379263-71379264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs183267448	chr11:71379268-71379269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs4121483	chr11:71379287-71379288	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs574229878	chr11:71379296-71379297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs35439000	chr11:71379309-71379310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs531477848	chr11:71379338-71379339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs543530460	chr11:71379340-71379341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs7933123	chr11:71379347-71379348	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs4121484	chr11:71379355-71379356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs7951618	chr11:71379359-71379360	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs563279952	chr11:71379361-71379362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs112834430	chr11:71379364-71379365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs574886881	chr11:71379372-71379373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs542262759	chr11:71379373-71379374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs77507403	chr11:71379389-71379390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs559353181	chr11:71379407-71379408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs528200605	chr11:71379422-71379423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs111483873	chr11:71379476-71379477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs7951865	chr11:71379511-71379512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Glioblastoma multiforme	21138945	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Glioblastoma multiforme	21080181	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chordoma	21602918	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	18172304	CNVD
Breast cancer	21806811	CNVD
Breast cancer	22002566	CNVD
Ductal carcinoma	18381933	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	20953835	CNVD
oto-dental syndrome	17656375	CNVD
Asthma	21956041	CNVD
Breast cancer	17603634	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	20864512	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21509527	CNVD
Breast cancer	17001317	CNVD
Oral squamous cell carcinoma	16619035	CNVD
Intracranial aneurysm	16715129	CNVD
Colorectal cancer	16272173	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Colorectal cancer	16882699	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668395	CNVD
Spinal muscular atrophy	17668395	CNVD
Neonatal seizures	17668395	CNVD
Neonatal seizures	17668391	CNVD
Neuroticism	17667963	CNVD
Cancer	17916600	CNVD
Squamous cell cancer	19047905	CNVD
Multiple endocrine neoplasia type 1	19566914	CNVD
XY sex reversal	17503084	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668391	CNVD
Maculopathy	17646752	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17157792	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Myelofibrosis	22110671	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Breast cancer	16620391	CNVD
Multiple myeloma	17550852	CNVD
Neuroblastoma	18923191	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Multiple myeloma	16616336	CNVD
Urothelial cell carcinoma	18451213	CNVD
Leukoplakia	24403051	CNVD
Prostate cancer	17217626	CNVD
Cancer	22429812	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	17142309	CNVD
Ovarian cancer	21781307	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71368200-71395600	Weak transcription	Fetal Intestine Small	intestine
2	chr11:71385800-71386000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
3	chr11:71394000-71396800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr11:71395600-71396200	Enhancers	Fetal Intestine Large	intestine
5	chr11:71395600-71396200	Enhancers	Fetal Intestine Small	intestine
6	chr11:71396200-71396400	Weak transcription	Fetal Intestine Large	intestine
7	chr11:71396200-71398000	Active TSS	Fetal Intestine Small	intestine
8	chr11:71396400-71398000	Active TSS	Fetal Intestine Large	intestine
9	chr11:71396800-71404000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr11:71400200-71400600	Enhancers	K562	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links