Variant report

Variant	nsv982948
Chromosome Location	chr11:55676038-55741474
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	BRCA1	chr11:55684123-55684321	GM12878	blood:	n/a	n/a
2	CEBPB	chr11:55730195-55730482	IMR90	lung:	n/a	chr11:55730352-55730363
3	CEBPB	chr11:55679079-55679370	HepG2	liver:	n/a	chr11:55679218-55679229 chr11:55679266-55679277 chr11:55679220-55679231 chr11:55679266-55679277 chr11:55679220-55679229
4	CEBPB	chr11:55704335-55704572	HepG2	liver:	n/a	chr11:55704400-55704413 chr11:55704401-55704412
5	CEBPB	chr11:55710296-55710606	HepG2	liver:	n/a	n/a
6	CEBPB	chr11:55730191-55730507	HepG2	liver:	n/a	chr11:55730352-55730363
7	CEBPB	chr11:55684084-55684322	K562	blood:	n/a	n/a
8	CEBPB	chr11:55698713-55698910	A549	lung:	n/a	n/a
9	CTCF	chr11:55710280-55710430	BJ	skin:	n/a	n/a
10	CTCF	chr11:55710460-55710610	HBMEC	blood vessel:	n/a	n/a
11	CTCF	chr11:55710400-55710550	MCF-7	breast:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
12	CTCF	chr11:55710180-55710330	NHDF-neo	bronchial:	n/a	n/a
13	CTCF	chr11:55710284-55710595	A549	lung:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
14	CTCF	chr11:55716905-55717105	H1-hESC	embryonic stem cell:	n/a	n/a
15	CTCF	chr11:55710354-55710543	A549	lung:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
16	CTCF	chr11:55710380-55710530	GM06990	blood:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
17	CTCF	chr11:55710343-55710564	LNCaP	prostate:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
18	CTCF	chr11:55710420-55710570	GM12867	blood:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
19	CTCF	chr11:55710380-55710530	GM12871	blood:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
20	CTCF	chr11:55710300-55710550	HRPEpiC	eye:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
21	CTCF	chr11:55716914-55717067	MCF-7	breast:	n/a	n/a
22	CTCF	chr11:55710300-55710450	BE2_C	brain:	n/a	n/a
23	CTCF	chr11:55710380-55710530	HCFaa	heart:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
24	CTCF	chr11:55710337-55710574	HUVEC	blood vessel:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
25	CTCF	chr11:55710360-55710510	GM12872	blood:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
26	CTCF	chr11:55710377-55710519	MCF-7	breast:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
27	CTCF	chr11:55710360-55710510	GM12865	blood:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
28	CTCF	chr11:55710320-55710470	HEK293	kidney:	n/a	chr11:55710457-55710465 chr11:55710452-55710470 chr11:55710453-55710469
29	CTCF	chr11:55710364-55710548	K562	blood:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
30	CTCF	chr11:55710360-55710510	AG09309	skin:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
31	CTCF	chr11:55710132-55711168	A549	lung:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
32	CTCF	chr11:55694723-55694780	LNCaP	prostate:	n/a	n/a
33	CTCF	chr11:55710320-55710470	K562	blood:	n/a	chr11:55710457-55710465 chr11:55710452-55710470 chr11:55710453-55710469
34	CTCF	chr11:55710360-55710510	BJ	skin:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
35	CTCF	chr11:55710380-55710530	HRE	kidney:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
36	CTCF	chr11:55710360-55710510	GM12873	blood:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
37	CTCF	chr11:55710380-55710530	HMEC	breast:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
38	CTCF	chr11:55710340-55710490	NB4	blood:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
39	CTCF	chr11:55710353-55710571	Pancreas_OC	pancreas:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
40	CTCF	chr11:55710000-55710150	HMF	breast:	n/a	n/a
41	CTCF	chr11:55710360-55710510	AoAF	blood vessel:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
42	CTCF	chr11:55710320-55710470	AG09309	skin:	n/a	chr11:55710457-55710465 chr11:55710452-55710470 chr11:55710453-55710469
43	CTCF	chr11:55710297-55710586	H1-hESC	embryonic stem cell:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
44	CTCF	chr11:55710400-55710550	GM12874	blood:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
45	CTCF	chr11:55710366-55710547	GM10248	blood:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
46	CTCF	chr11:55710320-55710470	AoAF	blood vessel:	n/a	chr11:55710457-55710465 chr11:55710452-55710470 chr11:55710453-55710469
47	CTCF	chr11:55710360-55710510	SAEC	small airway:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
48	CTCF	chr11:55710340-55710490	GM12873	blood:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
49	CTCF	chr11:55710380-55710530	NHDF-neo	bronchial:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469
50	CTCF	chr11:55710380-55710530	HEEpiC	esophagus:	n/a	chr11:55710457-55710465 chr11:55710454-55710475 chr11:55710452-55710470 chr11:55710453-55710469

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:55737045-55737095	SK-N-SH_RA	brain:	n/a
2	chr11:55705284-55705334	RPTEC	kidney:	n/a
3	chr11:55737045-55737095	SK-N-SH_RA	brain:	n/a
4	chr11:55705284-55705334	RPTEC	kidney:	n/a
5	chr11:55682099-55682149	AG09309	skin:	n/a
6	chr11:55703443-55703493	AG10803	skin:	n/a
7	chr11:55681277-55681327	HPAEpiC	pulmonary alveolar:	n/a
8	chr11:55681277-55681327	AG10803	skin:	n/a
9	chr11:55704601-55704651	HIPEpiC	eye:	n/a
10	chr11:55737045-55737095	RPTEC	kidney:	n/a
11	chr11:55737045-55737095	MCF10A-Er-Src	breast:	n/a
12	chr11:55682457-55682507	NB4	blood:	n/a
13	chr11:55681277-55681327	SK-N-MC	brain:	n/a
14	chr11:55705284-55705334	Hela-S3	cervix:	n/a
15	chr11:55736968-55737018	LNCaP	prostate:	n/a
16	chr11:55703443-55703493	GM12891	blood:	n/a
17	chr11:55704601-55704651	Hepatocyte	liver:	n/a
18	chr11:55682457-55682507	HCT-116	colon:	n/a
19	chr11:55705284-55705334	NB4	blood:	n/a
20	chr11:55737072-55737122	HAEpiC	amniotic membrane:	n/a
21	chr11:55682099-55682149	IMR90	lung:	fetal
22	chr11:55682099-55682149	HIPEpiC	eye:	n/a
23	chr11:55705284-55705334	Jurkat	blood:	n/a
24	chr11:55704364-55704414	SAEC	small airway:	n/a
25	chr11:55703443-55703493	HNPCEpiC	eye:	n/a
26	chr11:55703443-55703493	SAEC	small airway:	n/a
27	chr11:55705284-55705334	HCM	heart:	n/a
28	chr11:55703443-55703493	U87	brain:	n/a
29	chr11:55735459-55735509	GM06990	blood:	n/a
30	chr11:55682603-55682653	HRCEpiC	kidney:	n/a
31	chr11:55704364-55704414	NHDF-neo	bronchial:	n/a
32	chr11:55705284-55705334	NHDF-neo	bronchial:	n/a
33	chr11:55736968-55737018	HCPEpiC	choroid plexus:	n/a
34	chr11:55704601-55704651	AG09309	skin:	n/a
35	chr11:55704364-55704414	NHBE	bronchial:	n/a
36	chr11:55704601-55704651	HAEpiC	amniotic membrane:	n/a
37	chr11:55704601-55704651	SAEC	small airway:	n/a
38	chr11:55704364-55704414	PFSK-1	brain:	n/a
39	chr11:55737045-55737095	HRPEpiC	eye:	n/a
40	chr11:55737045-55737095	T-47D	breast:	n/a
41	chr11:55736968-55737018	AG09319	gingival:	n/a
42	chr11:55682603-55682653	HAEpiC	amniotic membrane:	n/a
43	chr11:55737072-55737122	AG09309	skin:	n/a
44	chr11:55735459-55735509	HRE	kidney:	n/a
45	chr11:55704364-55704414	HCT-116	colon:	n/a
46	chr11:55736968-55737018	HL-60	blood:	n/a
47	chr11:55705284-55705334	BJ	skin:	n/a
48	chr11:55704364-55704414	U87	brain:	n/a
49	chr11:55737072-55737122	HPAEpiC	pulmonary alveolar:	n/a
50	chr11:55736968-55737018	NHBE	bronchial:	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:55726290..55727933-chr11:55735253..55737882,2	K562	blood:
2	chr11:55702690..55706471-chr11:55707075..55709513,3	MCF-7	breast:
3	chr11:55698028..55700897-chr11:55714005..55716618,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OR10AG1-1	chr11:55724692-55725106	NONHSAT021375

Variant related genes	Relation type
OR10AF1P	TF binding region
OR5I1	TF binding region
OR10AG1	TF binding region
OR5W1P	TF binding region
OR10AK1P	TF binding region
OR5W2	TF binding region
OR10AF1P	CpG island
OR5I1	CpG island
OR10AG1	CpG island
OR5W1P	CpG island
OR10AK1P	CpG island
OR5W2	CpG island
ENSG00000174970	chromatin interactions
ENSG00000255416	chromatin interactions
ENSG00000167825	chromatin interactions

Extended variants
information (count: 658 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:658 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187034477	chr11:55682100-55682101	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
2	rs2940752	chr11:55682111-55682112	Inactive region	CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs113180552	chr11:55682136-55682137	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
4	rs79964529	chr11:55682137-55682138	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
5	rs192434321	chr11:55682147-55682148	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
6	rs567425396	chr11:55682457-55682458	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
7	rs536278887	chr11:55682484-55682485	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
8	rs17148893	chr11:55682604-55682605	Inactive region	CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs182804352	chr11:55682610-55682611	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
10	rs566499832	chr11:55682612-55682613	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
11	rs17596694	chr11:55682622-55682623	Inactive region	CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs112508565	chr11:55682623-55682624	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
13	rs574339132	chr11:55684114-55684115	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs541954018	chr11:55684129-55684130	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs184542223	chr11:55684146-55684147	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs575466206	chr11:55684169-55684170	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs372682745	chr11:55684174-55684175	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs112221306	chr11:55684181-55684182	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs12575825	chr11:55684190-55684191	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs566535065	chr11:55684222-55684223	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs528738209	chr11:55684265-55684266	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs147865558	chr11:55684276-55684277	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs566317108	chr11:55684289-55684290	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs71490410	chr11:55684291-55684292	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs529271379	chr11:55684312-55684313	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs2512729	chr11:55684320-55684321	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs529324633	chr11:55684868-55684869	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs544585318	chr11:55684875-55684876	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs184532672	chr11:55684912-55684913	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs562994402	chr11:55684956-55684957	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs372922035	chr11:55684973-55684974	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs533421867	chr11:55685025-55685026	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs554623417	chr11:55686849-55686850	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs191951987	chr11:55686851-55686852	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs114825178	chr11:55686867-55686868	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs182007249	chr11:55686892-55686893	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs148016962	chr11:55686896-55686897	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs545001681	chr11:55686952-55686953	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs559936124	chr11:55686957-55686958	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs373575683	chr11:55686977-55686978	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs527255685	chr11:55686979-55686980	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs577017087	chr11:55698033-55698034	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs570542629	chr11:55698040-55698041	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs539514588	chr11:55698041-55698042	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs140177020	chr11:55698042-55698043	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs7941718	chr11:55698048-55698049	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs559576107	chr11:55698076-55698077	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs138222239	chr11:55698099-55698100	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs36088468	chr11:55698107-55698108	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs192574287	chr11:55698126-55698127	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:52)

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
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
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Colorectal cancer	16272173	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Pituitary adenoma	18645599	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:55698800-55699000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr11:55717000-55717400	Enhancers	Pancreas	Pancrea
3	chr11:55730000-55734000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr11:55733400-55734800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr11:55734000-55734200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr11:55734000-55734400	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr11:55741000-55741400	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr11:55741200-55742000	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr11:55741400-55746000	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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