Variant report

Variant	nsv1037975
Chromosome Location	chr11:48380904-48666024
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:388)
CpG islands
(count:184)
Chromatin interactive
region (count:1)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:388 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:48600198-48600306	K562	blood:	n/a	n/a
2	BCL3	chr11:48393835-48394182	GM12878	blood:	n/a	n/a
3	BCL3	chr11:48649085-48649287	GM12878	blood:	n/a	n/a
4	CEBPB	chr11:48477500-48477793	IMR90	lung:	n/a	n/a
5	CEBPB	chr11:48477590-48477827	H1-hESC	embryonic stem cell:	n/a	n/a
6	CEBPB	chr11:48477506-48477722	Hela-S3	cervix:	n/a	n/a
7	CEBPB	chr11:48477483-48477823	HepG2	liver:	n/a	n/a
8	CEBPB	chr11:48641582-48641875	IMR90	lung:	n/a	n/a
9	CEBPB	chr11:48477613-48477707	K562	blood:	n/a	n/a
10	CEBPB	chr11:48628746-48628791	HepG2	liver:	n/a	chr11:48628766-48628779 chr11:48628767-48628778 chr11:48628766-48628777
11	CEBPB	chr11:48477489-48477840	A549	lung:	n/a	n/a
12	CEBPB	chr11:48497081-48497188	IMR90	lung:	n/a	n/a
13	CEBPB	chr11:48641711-48641734	Hela-S3	cervix:	n/a	n/a
14	CEBPB	chr11:48641584-48641785	HepG2	liver:	n/a	n/a
15	CTCF	chr11:48406345-48406533	GM12891	blood:	n/a	n/a
16	CTCF	chr11:48387460-48387610	GM12875	blood:	n/a	n/a
17	CTCF	chr11:48406300-48406450	HFF-Myc	foreskin:	n/a	n/a
18	CTCF	chr11:48406380-48406530	GM12871	blood:	n/a	n/a
19	CTCF	chr11:48406340-48406490	HCT-116	colon:	n/a	n/a
20	CTCF	chr11:48387503-48387527	LNCaP	prostate:	n/a	n/a
21	CTCF	chr11:48555681-48555969	MCF-7	breast:	n/a	n/a
22	CTCF	chr11:48406339-48406522	Hela-S3	cervix:	n/a	n/a
23	CTCF	chr11:48477982-48478165	LNCaP	prostate:	n/a	n/a
24	CTCF	chr11:48406253-48406594	K562	blood:	n/a	n/a
25	CTCF	chr11:48477999-48478181	MCF-7	breast:	n/a	n/a
26	CTCF	chr11:48492470-48492503	GM20000	blood:	n/a	n/a
27	CTCF	chr11:48387380-48387530	MCF-7	breast:	n/a	n/a
28	CTCF	chr11:48406380-48406530	WERI-Rb-1	eye:	n/a	n/a
29	CTCF	chr11:48646670-48646724	Kidney_OC	kidney:	n/a	n/a
30	CTCF	chr11:48387380-48387530	HMF	breast:	n/a	n/a
31	CTCF	chr11:48661873-48661916	LNCaP	prostate:	n/a	n/a
32	CTCF	chr11:48406380-48406530	NB4	blood:	n/a	n/a
33	CTCF	chr11:48406400-48406550	Hela-S3	cervix:	n/a	n/a
34	CTCF	chr11:48387445-48387596	MCF-7	breast:	n/a	n/a
35	CTCF	chr11:48477977-48478225	LNCaP	prostate:	n/a	n/a
36	CTCF	chr11:48555456-48555509	MCF-7	breast:	n/a	n/a
37	CTCF	chr11:48582661-48582724	GM10248	blood:	n/a	n/a
38	CTCF	chr11:48387420-48387570	Caco-2	colon:	n/a	n/a
39	CTCF	chr11:48406361-48406478	LNCaP	prostate:	n/a	n/a
40	CTCF	chr11:48406379-48406509	A549	lung:	n/a	n/a
41	CTCF	chr11:48631997-48632093	GM13976	blood:	n/a	n/a
42	CTCF	chr11:48460361-48460395	Kidney_OC	kidney:	n/a	n/a
43	CTCF	chr11:48406360-48406510	GM12871	blood:	n/a	n/a
44	CTCF	chr11:48406380-48406530	GM12866	blood:	n/a	n/a
45	CTCF	chr11:48387380-48387530	GM12873	blood:	n/a	n/a
46	CTCF	chr11:48406400-48406550	HBMEC	blood vessel:	n/a	n/a
47	CTCF	chr11:48387426-48387586	MCF-7	breast:	n/a	n/a
48	CTCF	chr11:48406360-48406510	GM12870	blood:	n/a	n/a
49	CTCF	chr11:48455736-48455815	Spleen_OC	spleen:	n/a	n/a
50	CTCF	chr11:48406360-48406510	GM12867	blood:	n/a	n/a

(count:184 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:48509488-48509538	HCT-116	colon:	n/a
2	chr11:48509488-48509538	HCT-116	colon:	n/a
3	chr11:48509488-48509538	PrEC	prostate:	n/a
4	chr11:48510647-48510697	K562	blood:	n/a
5	chr11:48509778-48509828	AG09319	gingival:	n/a
6	chr11:48509778-48509828	A549	lung:	n/a
7	chr11:48509778-48509828	BJ	skin:	n/a
8	chr11:48509778-48509828	SK-N-SH	brain:	n/a
9	chr11:48509488-48509538	NHBE	bronchial:	n/a
10	chr11:48509488-48509538	GM12878	blood:	n/a
11	chr11:48509488-48509538	AG04449	skin:	fetal
12	chr11:48509778-48509828	AG10803	skin:	n/a
13	chr11:48510647-48510697	BJ	skin:	n/a
14	chr11:48509488-48509538	MCF-7	breast:	n/a
15	chr11:48509488-48509538	GM12891	blood:	n/a
16	chr11:48509488-48509538	HepG2	liver:	n/a
17	chr11:48509488-48509538	ovcar-3	ovarian:	n/a
18	chr11:48510647-48510697	HRPEpiC	eye:	n/a
19	chr11:48509778-48509828	Hela-S3	cervix:	n/a
20	chr11:48510647-48510697	HAEpiC	amniotic membrane:	n/a
21	chr11:48510647-48510697	SAEC	small airway:	n/a
22	chr11:48510647-48510697	SKMC	muscle:	n/a
23	chr11:48509488-48509538	HPAEpiC	pulmonary alveolar:	n/a
24	chr11:48510647-48510697	GM19239	blood:	n/a
25	chr11:48509488-48509538	HRCEpiC	kidney:	n/a
26	chr11:48509488-48509538	AG10803	skin:	n/a
27	chr11:48510647-48510697	H1-hESC	embryonic stem cell:	embryo
28	chr11:48509778-48509828	Hepatocyte	liver:	n/a
29	chr11:48509488-48509538	GM06990	blood:	n/a
30	chr11:48509488-48509538	HUVEC	blood vessel:	n/a
31	chr11:48509778-48509828	SK-N-MC	brain:	n/a
32	chr11:48510647-48510697	MCF-7	breast:	n/a
33	chr11:48509488-48509538	HRE	kidney:	n/a
34	chr11:48509488-48509538	SK-N-SH_RA	brain:	n/a
35	chr11:48510647-48510697	HMEC	breast:	n/a
36	chr11:48509778-48509828	HCPEpiC	choroid plexus:	n/a
37	chr11:48509778-48509828	T-47D	breast:	n/a
38	chr11:48509778-48509828	NT2-D1	testis:	n/a
39	chr11:48509488-48509538	HCF	heart:	n/a
40	chr11:48510647-48510697	U87	brain:	n/a
41	chr11:48510647-48510697	GM12891	blood:	n/a
42	chr11:48510647-48510697	HCT-116	colon:	n/a
43	chr11:48509778-48509828	SAEC	small airway:	n/a
44	chr11:48509778-48509828	HAEpiC	amniotic membrane:	n/a
45	chr11:48509488-48509538	Caco-2	colon:	n/a
46	chr11:48510647-48510697	HCF	heart:	n/a
47	chr11:48509488-48509538	PFSK-1	brain:	n/a
48	chr11:48510647-48510697	SK-N-MC	brain:	n/a
49	chr11:48509488-48509538	HEEpiC	esophagus:	n/a
50	chr11:48509778-48509828	MCF10A-Er-Src	breast:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:48478071..48478587-chr11:49191267..49191777,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OR4C5-1	chr11:48507915-48508377	NONHSAT021297

No data

Variant related genes	Relation type
OR4C9P	TF binding region
OR4C10P	TF binding region
OR4A47	TF binding region
OR4C2P	TF binding region
OR4A41P	TF binding region
OR4A46P	TF binding region
OR4A45P	TF binding region
OR4R1P	TF binding region
OR4A43P	TF binding region
OR4C5	TF binding region
OR4A40P	TF binding region
OR4A44P	TF binding region
OR4A48P	TF binding region
OR4A42P	TF binding region
OR4C9P	CpG island
OR4C10P	CpG island
OR4A47	CpG island
OR4C2P	CpG island
OR4A41P	CpG island
OR4A46P	CpG island
OR4A45P	CpG island
OR4R1P	CpG island
OR4A43P	CpG island
OR4C5	CpG island
OR4A40P	CpG island
OR4A44P	CpG island
OR4A48P	CpG island
OR4A42P	CpG island

Extended variants
information (count: 1198 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:1198 , 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	rs7948222	chr11:48380904-48380905	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs77062139	chr11:48380933-48380934	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs76474097	chr11:48380952-48380953	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs77696571	chr11:48380961-48380962	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs563124682	chr11:48381008-48381009	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs79524863	chr11:48381019-48381020	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs79911201	chr11:48381032-48381033	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs74444984	chr11:48381044-48381045	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs78918891	chr11:48381051-48381052	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs72898827	chr11:48381055-48381056	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs548710906	chr11:48381099-48381100	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs72898829	chr11:48381107-48381108	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs527596806	chr11:48381112-48381113	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs574505867	chr11:48381114-48381115	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs368659188	chr11:48381117-48381118	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs75622796	chr11:48381120-48381121	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs74819696	chr11:48381121-48381122	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs78255192	chr11:48381130-48381131	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs372733086	chr11:48381133-48381134	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs527691062	chr11:48381156-48381157	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs386753358	chr11:48381158-48381159	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs74570475	chr11:48381159-48381160	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs112199854	chr11:48381171-48381172	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs374125941	chr11:48381172-48381173	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs72898832	chr11:48381193-48381194	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs79869398	chr11:48381222-48381223	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs116754078	chr11:48381225-48381226	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs74604390	chr11:48381237-48381238	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs74966376	chr11:48381257-48381258	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs76437847	chr11:48381272-48381273	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs538577999	chr11:48381275-48381276	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs552169233	chr11:48381276-48381277	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs72898834	chr11:48381284-48381285	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs569072382	chr11:48381295-48381296	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs537638570	chr11:48381296-48381297	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs554650605	chr11:48381320-48381321	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs73456806	chr11:48381363-48381364	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs574542501	chr11:48381424-48381425	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs566954042	chr11:48381436-48381437	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs376310676	chr11:48381437-48381438	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs111515196	chr11:48381455-48381456	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs201926852	chr11:48381472-48381473	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs535963817	chr11:48381473-48381474	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs140098918	chr11:48381480-48381481	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs372850265	chr11:48381481-48381482	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs199998598	chr11:48381482-48381483	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs553774612	chr11:48381489-48381490	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs78108917	chr11:48381493-48381494	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs113567971	chr11:48381503-48381504	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs576885440	chr11:48381509-48381510	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

Disease	PMID	Source
Parathyroid adenoma	22454399	CNVD
Medulloblastoma	21979893	CNVD
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Wilms tumour	21544195	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
Breast cancer	17603634	CNVD
Chordoma	18071362	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
Lung cancer	18438408	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Myelofibrosis	22110671	CNVD
Melanoma	18172304	CNVD
Intracranial ependymoma	16609018	CNVD
Myxofibrosarcoma	16751306	CNVD
Potocki-Shaffer syndrome	22470819	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	16608533	CNVD
Hirschsprung''s Disease	21712996	CNVD
Follicular lymphoma	20505157	CNVD
Colorectal cancer	21128281	CNVD
Breast cancer	20409316	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Multiple myeloma	16616336	CNVD
Cancer	17160897	CNVD
Mantle cell lymphoma	19029149	CNVD
Glioblastoma multiforme	21138945	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22581003	CNVD
Breast cancer	21990379	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Schizophrenia	20967226	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Glioma	20126413	CNVD
Ovarian clear cell carcinoma	21343371	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:48376200-48385000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
2	chr11:48382200-48388400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
3	chr11:48382600-48383200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr11:48400000-48401600	ZNF genes & repeats	Liver	Liver
5	chr11:48404600-48405800	ZNF genes & repeats	Adipose Nuclei	Adipose
6	chr11:48413000-48413400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
7	chr11:48515600-48516600	Enhancers	Pancreatic Islets	Pancreatic Islet
8	chr11:48569000-48569600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
9	chr11:48569200-48569600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
10	chr11:48576800-48577000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr11:48632800-48633200	Active TSS	Fetal Heart	heart

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