Variant report

Variant	nsv832157
Chromosome Location	chr11:55420065-55594373
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr11:55425450-55425874	GM12878	blood:	n/a	n/a
2	BATF	chr11:55426940-55427106	GM12878	blood:	n/a	chr11:55427071-55427081
3	BATF	chr11:55425431-55426129	GM12878	blood:	n/a	n/a
4	BATF	chr11:55425468-55425815	GM12878	blood:	n/a	n/a
5	BCL11A	chr11:55425496-55426197	GM12878	blood:	n/a	n/a
6	BCL11A	chr11:55425504-55425830	GM12878	blood:	n/a	n/a
7	BHLHE40	chr11:55425502-55426161	GM12878	blood:	n/a	n/a
8	BHLHE40	chr11:55427039-55427080	GM12878	blood:	n/a	n/a
9	CEBPB	chr11:55484586-55484848	HepG2	liver:	n/a	chr11:55484684-55484695 chr11:55484682-55484695 chr11:55484684-55484695 chr11:55484682-55484693 chr11:55484682-55484695
10	CEBPB	chr11:55436916-55437222	K562	blood:	n/a	chr11:55437045-55437056
11	CEBPB	chr11:55531894-55532015	HepG2	liver:	n/a	n/a
12	CEBPB	chr11:55479060-55479320	HepG2	liver:	n/a	chr11:55479150-55479161
13	CEBPB	chr11:55436869-55437201	A549	lung:	n/a	chr11:55437045-55437056
14	CEBPB	chr11:55436866-55437227	IMR90	lung:	n/a	chr11:55437045-55437056
15	CEBPB	chr11:55460766-55460962	A549	lung:	n/a	n/a
16	CEBPB	chr11:55436863-55437223	HepG2	liver:	n/a	chr11:55437045-55437056
17	CEBPB	chr11:55484570-55484826	K562	blood:	n/a	chr11:55484684-55484695 chr11:55484682-55484695 chr11:55484684-55484695 chr11:55484682-55484693 chr11:55484682-55484695
18	CEBPB	chr11:55541048-55541310	A549	lung:	n/a	n/a
19	CEBPB	chr11:55567767-55568076	HepG2	liver:	n/a	chr11:55567868-55567879 chr11:55567908-55567919
20	CEBPB	chr11:55535621-55535901	HepG2	liver:	n/a	chr11:55535727-55535738
21	CEBPB	chr11:55591978-55592114	HepG2	liver:	n/a	chr11:55592043-55592056 chr11:55592042-55592059 chr11:55592043-55592056 chr11:55592043-55592054 chr11:55592044-55592055
22	CEBPB	chr11:55567730-55568064	A549	lung:	n/a	chr11:55567868-55567879 chr11:55567908-55567919
23	CEBPB	chr11:55486845-55487046	A549	lung:	n/a	n/a
24	CHD2	chr11:55425350-55426118	GM12878	blood:	n/a	n/a
25	CREB1	chr11:55461401-55461644	A549	lung:	n/a	n/a
26	CTCF	chr11:55474638-55474796	Gliobla	brain:	n/a	chr11:55474686-55474707 chr11:55474691-55474709 chr11:55474696-55474704 chr11:55474693-55474706
27	CTCF	chr11:55474575-55474845	Medullo	brain:	n/a	chr11:55474686-55474707 chr11:55474691-55474709 chr11:55474696-55474704 chr11:55474693-55474706
28	CTCF	chr11:55474620-55474770	GM12874	blood:	n/a	chr11:55474686-55474707 chr11:55474691-55474709 chr11:55474696-55474704 chr11:55474693-55474706
29	CTCF	chr11:55494260-55494410	HVMF	connective:	n/a	n/a
30	CTCF	chr11:55474616-55474767	A549	lung:	n/a	chr11:55474686-55474707 chr11:55474691-55474709 chr11:55474696-55474704 chr11:55474693-55474706
31	CTCF	chr11:55482900-55483050	GM12874	blood:	n/a	chr11:55482946-55482967 chr11:55482947-55482960 chr11:55482945-55482961 chr11:55482947-55482960 chr11:55482944-55482962
32	CTCF	chr11:55482458-55483135	GM12878	blood:	n/a	chr11:55482946-55482967 chr11:55482947-55482960 chr11:55482945-55482961 chr11:55482947-55482960 chr11:55482944-55482962
33	CTCF	chr11:55482854-55483105	HepG2	liver:	n/a	chr11:55482946-55482967 chr11:55482947-55482960 chr11:55482945-55482961 chr11:55482947-55482960 chr11:55482944-55482962
34	CTCF	chr11:55474580-55474730	AG09319	gingival:	n/a	chr11:55474686-55474707 chr11:55474691-55474709 chr11:55474696-55474704 chr11:55474693-55474706
35	CTCF	chr11:55482920-55483070	A549	lung:	n/a	chr11:55482946-55482967 chr11:55482947-55482960 chr11:55482945-55482961 chr11:55482947-55482960 chr11:55482944-55482962
36	CTCF	chr11:55482817-55483102	Gliobla	brain:	n/a	chr11:55482946-55482967 chr11:55482947-55482960 chr11:55482945-55482961 chr11:55482947-55482960 chr11:55482944-55482962
37	CTCF	chr11:55494340-55494490	SK-N-SH_RA	brain:	n/a	n/a
38	CTCF	chr11:55494280-55494430	HepG2	liver:	n/a	n/a
39	CTCF	chr11:55474700-55474850	BE2_C	brain:	n/a	n/a
40	CTCF	chr11:55494277-55494278	LNCaP	prostate:	n/a	n/a
41	CTCF	chr11:55482880-55483030	HFF	foreskin:	n/a	chr11:55482946-55482967 chr11:55482947-55482960 chr11:55482945-55482961 chr11:55482947-55482960 chr11:55482944-55482962
42	CTCF	chr11:55474620-55474770	HMEC	breast:	n/a	chr11:55474686-55474707 chr11:55474691-55474709 chr11:55474696-55474704 chr11:55474693-55474706
43	CTCF	chr11:55482860-55483010	GM12864	blood:	n/a	chr11:55482946-55482967 chr11:55482947-55482960 chr11:55482945-55482961 chr11:55482947-55482960 chr11:55482944-55482962
44	CTCF	chr11:55474620-55474770	NB4	blood:	n/a	chr11:55474686-55474707 chr11:55474691-55474709 chr11:55474696-55474704 chr11:55474693-55474706
45	CTCF	chr11:55482940-55483090	HFF-Myc	foreskin:	n/a	chr11:55482946-55482967 chr11:55482947-55482960 chr11:55482945-55482961 chr11:55482947-55482960 chr11:55482944-55482962
46	CTCF	chr11:55474620-55474770	HA-sp	spinal cord:	n/a	chr11:55474686-55474707 chr11:55474691-55474709 chr11:55474696-55474704 chr11:55474693-55474706
47	CTCF	chr11:55482820-55482970	HepG2	liver:	n/a	chr11:55482946-55482967 chr11:55482947-55482960 chr11:55482945-55482961 chr11:55482947-55482960 chr11:55482944-55482962
48	CTCF	chr11:55474296-55475084	A549	lung:	n/a	chr11:55474686-55474707 chr11:55474691-55474709 chr11:55474696-55474704 chr11:55474693-55474706
49	CTCF	chr11:55482840-55482990	HRPEpiC	eye:	n/a	chr11:55482946-55482967 chr11:55482947-55482960 chr11:55482945-55482961 chr11:55482947-55482960 chr11:55482944-55482962
50	CTCF	chr11:55474640-55474790	GM12873	blood:	n/a	chr11:55474686-55474707 chr11:55474691-55474709 chr11:55474696-55474704 chr11:55474693-55474706

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:55561545-55561595	PFSK-1	brain:	n/a
2	chr11:55561545-55561595	PFSK-1	brain:	n/a
3	chr11:55541269-55541319	U87	brain:	n/a
4	chr11:55541269-55541319	HUVEC	blood vessel:	n/a
5	chr11:55593465-55593515	HIPEpiC	eye:	n/a
6	chr11:55587764-55587814	A549	lung:	n/a
7	chr11:55587764-55587814	NB4	blood:	n/a
8	chr11:55541269-55541319	T-47D	breast:	n/a
9	chr11:55587764-55587814	HCF	heart:	n/a
10	chr11:55563401-55563451	HEK293	kidney:	embryo
11	chr11:55579363-55579413	SK-N-MC	brain:	n/a
12	chr11:55561545-55561595	SAEC	small airway:	n/a
13	chr11:55593465-55593515	T-47D	breast:	n/a
14	chr11:55561545-55561595	NT2-D1	testis:	n/a
15	chr11:55541269-55541319	MCF10A-Er-Src	breast:	n/a
16	chr11:55586293-55586343	ProgFib	skin:	n/a
17	chr11:55541018-55541068	SKMC	muscle:	n/a
18	chr11:55586293-55586343	HMEC	breast:	n/a
19	chr11:55587764-55587814	NH-A	brain:	n/a
20	chr11:55587764-55587814	HL-60	blood:	n/a
21	chr11:55579363-55579413	SK-N-SH	brain:	n/a
22	chr11:55577775-55577825	BE2_C	brain:	n/a
23	chr11:55579363-55579413	HEEpiC	esophagus:	n/a
24	chr11:55541269-55541319	AoSMC	blood vessel:	n/a
25	chr11:55431152-55431202	SK-N-SH_RA	brain:	n/a
26	chr11:55561545-55561595	Jurkat	blood:	n/a
27	chr11:55586264-55586314	AG09319	gingival:	n/a
28	chr11:55586293-55586343	SKMC	muscle:	n/a
29	chr11:55587764-55587814	AG04449	skin:	fetal
30	chr11:55431152-55431202	SKMC	muscle:	n/a
31	chr11:55586293-55586343	AoSMC	blood vessel:	n/a
32	chr11:55586264-55586314	HPAEpiC	pulmonary alveolar:	n/a
33	chr11:55586293-55586343	NHBE	bronchial:	n/a
34	chr11:55541269-55541319	HEK293	kidney:	embryo
35	chr11:55563401-55563451	PrEC	prostate:	n/a
36	chr11:55561545-55561595	PrEC	prostate:	n/a
37	chr11:55579363-55579413	IMR90	lung:	fetal
38	chr11:55431584-55431634	T-47D	breast:	n/a
39	chr11:55593465-55593515	NHDF-neo	bronchial:	n/a
40	chr11:55593465-55593515	HPAEpiC	pulmonary alveolar:	n/a
41	chr11:55587104-55587154	Hela-S3	cervix:	n/a
42	chr11:55433005-55433055	AG04449	skin:	fetal
43	chr11:55587104-55587154	HRE	kidney:	n/a
44	chr11:55577775-55577825	AG04449	skin:	fetal
45	chr11:55563401-55563451	GM06990	blood:	n/a
46	chr11:55541018-55541068	SK-N-SH_RA	brain:	n/a
47	chr11:55577775-55577825	HAEpiC	amniotic membrane:	n/a
48	chr11:55561545-55561595	HCM	heart:	n/a
49	chr11:55431152-55431202	Hepatocyte	liver:	n/a
50	chr11:55541269-55541319	ECC-1	luminal epithelium:	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:55575230..55577016-chr11:55600877..55602678,2	K562	blood:
2	chr11:55491735..55492235-chr19:6736783..6737284,2	NB4	blood:
3	chr11:55569608..55571383-chr11:55587513..55589076,2	K562	blood:
4	chr11:55569608..55571383-chr11:55587513..55589076,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OR4C11-1	chr11:55451617-55451701	ENSG00000254804
2	lnc-OR4C11-1	chr11:55453377-55453636	ENSG00000254804

Variant related genes	Relation type
OR5L1	TF binding region
OR5L2	TF binding region
OR5D13	TF binding region
OR5D15P	TF binding region
OR5D2P	TF binding region
OR5D18	TF binding region
OR5D17P	TF binding region
OR5D14	TF binding region
OR4V1P	TF binding region
OR4P1P	TF binding region
OR4C6	TF binding region
OR5D3P	TF binding region
ENSG00000254804	TF binding region
OR5L1	CpG island
OR5L2	CpG island
OR5D13	CpG island
OR5D15P	CpG island
OR5D2P	CpG island
OR5D18	CpG island
OR5D17P	CpG island
OR5D14	CpG island
OR4V1P	CpG island
OR4P1P	CpG island
OR4C6	CpG island
OR5D3P	CpG island
ENSG00000254804	CpG island
ENSG00000125734	chromatin interactions

Extended variants
information (count: 596 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:596 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562118572	chr11:55420116-55420117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs112697525	chr11:55420120-55420121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs550981388	chr11:55420201-55420202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs529727737	chr11:55420224-55420225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs181920397	chr11:55420308-55420309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs533315823	chr11:55420315-55420316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs551810594	chr11:55420329-55420330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs537239137	chr11:55420346-55420347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs547835265	chr11:55420386-55420387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs200583595	chr11:55420480-55420481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs201956558	chr11:55420487-55420488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs187426628	chr11:55420604-55420605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs376573315	chr11:55420651-55420652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs566940021	chr11:55420726-55420727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs188900935	chr11:55420820-55420821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs181693637	chr11:55420821-55420822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs185381431	chr11:55420825-55420826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs151316087	chr11:55420919-55420920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs74353360	chr11:55420938-55420939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs384577	chr11:55420950-55420951	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs433348	chr11:55420951-55420952	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs371139708	chr11:55420970-55420971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs140607737	chr11:55421056-55421057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs79116162	chr11:55421105-55421106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs138017029	chr11:55421108-55421109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs572531736	chr11:55421112-55421113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs414727	chr11:55421124-55421125	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs374956785	chr11:55421126-55421127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs74479421	chr11:55421128-55421129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs544790971	chr11:55421140-55421141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs11443035	chr11:55421147-55421148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs12286799	chr11:55421208-55421209	Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs533685540	chr11:55421222-55421223	Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs568218447	chr11:55421275-55421276	Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs551773698	chr11:55421285-55421286	Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs185845776	chr11:55421305-55421306	Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs534081687	chr11:55421308-55421309	Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs191049733	chr11:55421330-55421331	Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs371082237	chr11:55421338-55421339	Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs549202165	chr11:55421342-55421343	Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs567795378	chr11:55421373-55421374	Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs75695401	chr11:55421384-55421385	Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs576350639	chr11:55421471-55421472	Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs34188961	chr11:55421472-55421473	Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs395548	chr11:55421485-55421486	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs183680000	chr11:55421490-55421491	Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs374220801	chr11:55421513-55421514	Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs555309325	chr11:55421569-55421570	Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs79799044	chr11:55421595-55421596	Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs74798409	chr11:55421597-55421598	Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:50)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Renal cell carcinoma	18194544	CNVD
Glioblastoma multiforme	21138945	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21990379	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Esophageal cancer	21851588	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	17142309	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Glioblastoma multiforme	22286061	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
Multiple myeloma	16616336	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	20967226	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Melanoma	20877625	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:55412000-55421200	Weak transcription	Fetal Brain Male	brain
2	chr11:55421200-55421600	Active TSS	Fetal Brain Male	brain
3	chr11:55425800-55426600	Enhancers	GM12878-XiMat	blood
4	chr11:55426200-55426400	Enhancers	Rectal Mucosa Donor 29	rectum
5	chr11:55451200-55453000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
6	chr11:55453400-55454000	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr11:55500200-55500800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr11:55508400-55508600	Enhancers	Esophagus	oesophagus
9	chr11:55508400-55508600	ZNF genes & repeats	Pancreas	Pancrea
10	chr11:55545600-55547200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
11	chr11:55589400-55590400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

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