Variant report

Variant	nsv975946
Chromosome Location	chr11:71295301-71315526
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:190)
CpG islands
(count:733)
Chromatin interactive
region (count:1)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:190 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF3	chr11:71300244-71300497	K562	blood:	n/a	n/a
2	BATF	chr11:71300267-71300538	GM12878	blood:	n/a	n/a
3	BATF	chr11:71300267-71300512	GM12878	blood:	n/a	n/a
4	BCL3	chr11:71300209-71300522	A549	lung:	n/a	n/a
5	CBX3	chr11:71300242-71300518	K562	blood:	n/a	n/a
6	CEBPB	chr11:71297036-71297088	HepG2	liver:	n/a	chr11:71297051-71297062
7	CEBPB	chr11:71296998-71297107	K562	blood:	n/a	chr11:71297051-71297062
8	CTCF	chr11:71300320-71300470	GM12867	blood:	n/a	n/a
9	CTCF	chr11:71300340-71300490	Hela-S3	cervix:	n/a	n/a
10	CTCF	chr11:71300271-71300526	GM10266	blood:	n/a	n/a
11	CTCF	chr11:71300360-71300510	GM12801	blood:	n/a	n/a
12	CTCF	chr11:71300103-71300580	K562	blood:	n/a	n/a
13	CTCF	chr11:71300280-71300512	Spleen_OC	spleen:	n/a	n/a
14	CTCF	chr11:71300300-71300450	GM12870	blood:	n/a	n/a
15	CTCF	chr11:71300360-71300510	NHEK	skin:	n/a	n/a
16	CTCF	chr11:71302557-71302657	GM20000	blood:	n/a	n/a
17	CTCF	chr11:71300338-71300471	NHEK	skin:	n/a	n/a
18	CTCF	chr11:71300300-71300450	GM12873	blood:	n/a	n/a
19	CTCF	chr11:71300709-71300798	GM19239	blood:	n/a	n/a
20	CTCF	chr11:71300372-71300409	IMR90	lung:	n/a	n/a
21	CTCF	chr11:71300297-71300488	HepG2	liver:	n/a	n/a
22	CTCF	chr11:71300317-71300549	GM19238	blood:	n/a	n/a
23	CTCF	chr11:71300200-71300621	GM12878	blood:	n/a	n/a
24	CTCF	chr11:71300320-71300470	NB4	blood:	n/a	n/a
25	CTCF	chr11:71300263-71300546	GM13977	blood:	n/a	n/a
26	CTCF	chr11:71300320-71300470	GM12871	blood:	n/a	n/a
27	CTCF	chr11:71300213-71300527	K562	blood:	n/a	n/a
28	CTCF	chr11:71300337-71300504	MCF-7	breast:	n/a	n/a
29	CTCF	chr11:71300360-71300510	GM06990	blood:	n/a	n/a
30	CTCF	chr11:71300253-71300562	GM12878	blood:	n/a	n/a
31	CTCF	chr11:71300360-71300510	GM12872	blood:	n/a	n/a
32	CTCF	chr11:71300280-71300430	GM12867	blood:	n/a	n/a
33	CTCF	chr11:71300335-71300498	A549	lung:	n/a	n/a
34	CTCF	chr11:71300300-71300450	RPTEC	kidney:	n/a	n/a
35	CTCF	chr11:71300340-71300490	GM12872	blood:	n/a	n/a
36	CTCF	chr11:71300702-71300802	GM13977	blood:	n/a	n/a
37	CTCF	chr11:71312016-71312119	Lung_OC	lung:	n/a	n/a
38	CTCF	chr11:71300305-71300514	A549	lung:	n/a	n/a
39	CTCF	chr11:71300340-71300490	Caco-2	colon:	n/a	n/a
40	CTCF	chr11:71300347-71300524	H1-hESC	embryonic stem cell:	n/a	n/a
41	CTCF	chr11:71299320-71299470	GM12868	blood:	n/a	n/a
42	CTCF	chr11:71300340-71300490	HepG2	liver:	n/a	n/a
43	CTCF	chr11:71300334-71300532	GM19239	blood:	n/a	n/a
44	CTCF	chr11:71315280-71315430	GM12864	blood:	n/a	n/a
45	CTCF	chr11:71300220-71300370	HUVEC	blood vessel:	n/a	n/a
46	CTCF	chr11:71300340-71300490	GM12878	blood:	n/a	n/a
47	CTCF	chr11:71300760-71300910	GM12872	blood:	n/a	n/a
48	CTCF	chr11:71300280-71300430	HCPEpiC	choroid plexus:	n/a	n/a
49	CTCF	chr11:71300320-71300470	A549	lung:	n/a	n/a
50	CTCF	chr11:71300340-71300490	K562	blood:	n/a	n/a

(count:733 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:71301401-71301451	PANC-1	pancreas:	n/a
2	chr11:71301401-71301451	PANC-1	pancreas:	n/a
3	chr11:71301401-71301451	GM19239	blood:	n/a
4	chr11:71297203-71297253	GM19239	blood:	n/a
5	chr11:71295908-71295958	HEK293	kidney:	embryo
6	chr11:71301182-71301232	SK-N-SH	brain:	n/a
7	chr11:71297203-71297253	HCF	heart:	n/a
8	chr11:71313287-71313337	HCT-116	colon:	n/a
9	chr11:71313838-71313888	HMEC	breast:	n/a
10	chr11:71301182-71301232	GM06990	blood:	n/a
11	chr11:71311984-71312034	SAEC	small airway:	n/a
12	chr11:71313750-71313800	A549	lung:	n/a
13	chr11:71301182-71301232	PFSK-1	brain:	n/a
14	chr11:71295908-71295958	MCF-7	breast:	n/a
15	chr11:71313232-71313282	AG04450	lung:	fetal
16	chr11:71313750-71313800	ovcar-3	ovarian:	n/a
17	chr11:71311984-71312034	HCPEpiC	choroid plexus:	n/a
18	chr11:71301182-71301232	AG09309	skin:	n/a
19	chr11:71313287-71313337	U87	brain:	n/a
20	chr11:71301182-71301232	NH-A	brain:	n/a
21	chr11:71313287-71313337	HRE	kidney:	n/a
22	chr11:71301182-71301232	ovcar-3	ovarian:	n/a
23	chr11:71311984-71312034	RPTEC	kidney:	n/a
24	chr11:71311984-71312034	SK-N-SH_RA	brain:	n/a
25	chr11:71301062-71301112	HRCEpiC	kidney:	n/a
26	chr11:71311984-71312034	NHBE	bronchial:	n/a
27	chr11:71313750-71313800	NHBE	bronchial:	n/a
28	chr11:71300992-71301042	HCF	heart:	n/a
29	chr11:71301182-71301232	HPAEpiC	pulmonary alveolar:	n/a
30	chr11:71313750-71313800	PANC-1	pancreas:	n/a
31	chr11:71301062-71301112	ovcar-3	ovarian:	n/a
32	chr11:71300992-71301042	SK-N-SH_RA	brain:	n/a
33	chr11:71300992-71301042	GM12878	blood:	n/a
34	chr11:71311984-71312034	GM06990	blood:	n/a
35	chr11:71295908-71295958	HUVEC	blood vessel:	n/a
36	chr11:71301062-71301112	K562	blood:	n/a
37	chr11:71301401-71301451	HCPEpiC	choroid plexus:	n/a
38	chr11:71301182-71301232	HL-60	blood:	n/a
39	chr11:71313838-71313888	GM12891	blood:	n/a
40	chr11:71301401-71301451	BJ	skin:	n/a
41	chr11:71313750-71313800	GM06990	blood:	n/a
42	chr11:71297203-71297253	PrEC	prostate:	n/a
43	chr11:71311984-71312034	HAEpiC	amniotic membrane:	n/a
44	chr11:71301062-71301112	Hela-S3	cervix:	n/a
45	chr11:71301401-71301451	HRCEpiC	kidney:	n/a
46	chr11:71313838-71313888	HRE	kidney:	n/a
47	chr11:71297203-71297253	HepG2	liver:	n/a
48	chr11:71300992-71301042	SKMC	muscle:	n/a
49	chr11:71301401-71301451	ProgFib	skin:	n/a
50	chr11:71295908-71295958	H1-hESC	embryonic stem cell:	embryo

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:71290639..71292875-chr11:71296370..71298788,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AP000867.1-3	chr11:71314349-71314399	NONHSAT022693
2	lnc-AP000867.1-3	chr11:71310043-71310371	NONHSAT022693

No data

Variant related genes	Relation type
OR7E87P	TF binding region
KRTAP5-14P	TF binding region
KRTAP5-11	TF binding region
UNC93B6	TF binding region
OR7E87P	CpG island
KRTAP5-14P	CpG island
KRTAP5-11	CpG island
UNC93B6	CpG island
ENSG00000249387	chromatin interactions

Extended variants
information (count: 611 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:611 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547420719	chr11:71295326-71295327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs554305796	chr11:71295340-71295341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs367992686	chr11:71295424-71295425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs565720147	chr11:71295429-71295430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs539524909	chr11:71295431-71295432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs536445475	chr11:71295442-71295443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs11821305	chr11:71295456-71295457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs183462595	chr11:71295495-71295496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs189153571	chr11:71295552-71295553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs371618784	chr11:71295561-71295562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs575032712	chr11:71295575-71295576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs558882195	chr11:71295576-71295577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs553743173	chr11:71295580-71295581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs577124171	chr11:71295586-71295587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs112146703	chr11:71295598-71295599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs572144740	chr11:71295600-71295601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs545873084	chr11:71295605-71295606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs564445603	chr11:71295608-71295609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs79746066	chr11:71295609-71295610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs76735300	chr11:71295610-71295611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs61888768	chr11:71295626-71295627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs61888769	chr11:71295629-71295630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs61888770	chr11:71295631-71295632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs531500389	chr11:71295647-71295648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs543261894	chr11:71295654-71295655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs61888771	chr11:71295655-71295656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs12278869	chr11:71295659-71295660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs574739320	chr11:71295663-71295664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs181560822	chr11:71295669-71295670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs572354768	chr11:71295672-71295673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs186278984	chr11:71295683-71295684	Weak transcription	CpG island	2 gene(s)	Overlapped CNVs	n/a
32	rs532978695	chr11:71295688-71295689	Weak transcription	CpG island	2 gene(s)	Overlapped CNVs	n/a
33	rs551459343	chr11:71295689-71295690	Weak transcription	CpG island	2 gene(s)	Overlapped CNVs	n/a
34	rs553586116	chr11:71295700-71295701	Weak transcription	CpG island	2 gene(s)	Overlapped CNVs	n/a
35	rs569657283	chr11:71295711-71295712	Weak transcription	CpG island	2 gene(s)	Overlapped CNVs	n/a
36	rs191980827	chr11:71295731-71295732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs560854323	chr11:71295734-71295735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs181502603	chr11:71295735-71295736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs201320232	chr11:71295737-71295738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs535733411	chr11:71295740-71295741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs186473954	chr11:71295747-71295748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs190855622	chr11:71295748-71295749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs183364672	chr11:71295758-71295759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs145062183	chr11:71295761-71295762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs532459607	chr11:71295763-71295764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs547758253	chr11:71295764-71295765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs559662311	chr11:71295767-71295768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs529947794	chr11:71295772-71295773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs188034173	chr11:71295780-71295781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs71473842	chr11:71295790-71295791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71291800-71297000	Weak transcription	Fetal Intestine Large	intestine
2	chr11:71291800-71299000	Weak transcription	Gastric	stomach
3	chr11:71293600-71300000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr11:71297000-71297600	Enhancers	Fetal Intestine Large	intestine
5	chr11:71297000-71301000	Enhancers	Fetal Intestine Small	intestine
6	chr11:71297600-71299000	Weak transcription	Fetal Intestine Large	intestine
7	chr11:71298000-71298800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr11:71298800-71299000	Weak transcription	Pancreas	Pancrea
9	chr11:71298800-71299800	Enhancers	HepG2	liver
10	chr11:71299000-71299200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr11:71299000-71299200	Enhancers	Stomach Mucosa	stomach
12	chr11:71299000-71299600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr11:71299000-71299800	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr11:71299000-71300200	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr11:71299000-71300200	Enhancers	Fetal Intestine Large	intestine
16	chr11:71299000-71300200	Enhancers	Gastric	stomach
17	chr11:71299000-71300400	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr11:71299000-71300800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr11:71299000-71301000	Enhancers	Duodenum Mucosa	Duodenum
20	chr11:71299000-71301000	Enhancers	Placenta	Placenta
21	chr11:71299000-71301000	Enhancers	Pancreas	Pancrea
22	chr11:71299200-71299800	Weak transcription	Stomach Mucosa	stomach
23	chr11:71299200-71300000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr11:71299600-71300200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr11:71299800-71300000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr11:71299800-71300600	Enhancers	Stomach Mucosa	stomach
27	chr11:71300000-71300200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr11:71300000-71300600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr11:71314200-71314600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr11:71314400-71314600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
31	chr11:71315200-71316000	Enhancers	Fetal Thymus	thymus

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