Variant report

Variant	nsv972008
Chromosome Location	chr11:48341223-48350619
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:38)
CpG islands
(count:183)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:38 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr11:48340990-48341301	A549	lung:	n/a	n/a
2	CHD2	chr11:48344566-48344658	K562	blood:	n/a	n/a
3	CTCF	chr11:48347233-48347255	Fibrobl	skin:	n/a	n/a
4	CTCF	chr11:48342180-48342330	AoAF	blood vessel:	n/a	n/a
5	E2F4	chr11:48345431-48345631	MCF10A-Er-Src	breast:	n/a	n/a
6	E2F4	chr11:48347512-48347672	MCF10A-Er-Src	breast:	n/a	n/a
7	ELK1	chr11:48347070-48347169	Hela-S3	cervix:	n/a	n/a
8	FOS	chr11:48342956-48343281	MCF10A-Er-Src	breast:	n/a	n/a
9	FOS	chr11:48342981-48343180	MCF10A-Er-Src	breast:	n/a	n/a
10	GATA3	chr11:48349827-48350069	MCF-7	breast:	n/a	n/a
11	IRF3	chr11:48343127-48343236	GM12878	blood:	n/a	n/a
12	JUND	chr11:48342959-48343237	HepG2	liver:	n/a	chr11:48343111-48343122
13	MAFK	chr11:48348190-48348315	HepG2	liver:	n/a	n/a
14	MAFK	chr11:48348206-48348323	HepG2	liver:	n/a	n/a
15	MAFK	chr11:48341111-48341378	HepG2	liver:	n/a	n/a
16	MYC	chr11:48346986-48347162	MCF-7	breast:	n/a	n/a
17	MYC	chr11:48347163-48347197	MCF-7	breast:	n/a	n/a
18	NFE2	chr11:48342606-48342708	GM12878	blood:	n/a	n/a
19	NFYA	chr11:48347369-48347522	GM12878	blood:	n/a	n/a
20	POLR2A	chr11:48347171-48347181	A549	lung:	n/a	n/a
21	POLR2A	chr11:48349173-48349271	MCF10A-Er-Src	breast:	n/a	n/a
22	POLR2A	chr11:48347002-48347086	A549	lung:	n/a	n/a
23	POLR2A	chr11:48347090-48347092	A549	lung:	n/a	n/a
24	POLR2A	chr11:48347203-48347209	A549	lung:	n/a	n/a
25	POLR2A	chr11:48348113-48348234	MCF10A-Er-Src	breast:	n/a	n/a
26	POLR2A	chr11:48346379-48347007	MCF10A-Er-Src	breast:	n/a	n/a
27	POLR2A	chr11:48347144-48347164	A549	lung:	n/a	n/a
28	POLR2A	chr11:48342627-48342739	MCF10A-Er-Src	breast:	n/a	n/a
29	RCOR1	chr11:48342720-48343141	HepG2	liver:	n/a	n/a
30	STAT3	chr11:48344230-48344343	MCF10A-Er-Src	breast:	n/a	n/a
31	STAT3	chr11:48343040-48343117	MCF10A-Er-Src	breast:	n/a	n/a
32	STAT3	chr11:48343018-48343194	Hela-S3	cervix:	n/a	n/a
33	STAT3	chr11:48341870-48341945	MCF10A-Er-Src	breast:	n/a	n/a
34	TBL1XR1	chr11:48348152-48348215	K562	blood:	n/a	n/a
35	UBTF	chr11:48342067-48342188	K562	blood:	n/a	n/a
36	USF2	chr11:48342940-48343220	Hela-S3	cervix:	n/a	chr11:48343064-48343075
37	WRNIP1	chr11:48347064-48347270	GM12878	blood:	n/a	n/a
38	ZNF143	chr11:48346961-48347155	Hela-S3	cervix:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:48345361-48345411	GM12878	blood:	n/a
2	chr11:48345815-48345865	Hepatocyte	liver:	n/a
3	chr11:48345361-48345411	GM12891	blood:	n/a
4	chr11:48346680-48346730	GM19239	blood:	n/a
5	chr11:48345815-48345865	HUVEC	blood vessel:	n/a
6	chr11:48346680-48346730	HAEpiC	amniotic membrane:	n/a
7	chr11:48346680-48346730	T-47D	breast:	n/a
8	chr11:48345361-48345411	NT2-D1	testis:	n/a
9	chr11:48346680-48346730	H1-hESC	embryonic stem cell:	embryo
10	chr11:48345815-48345865	GM19239	blood:	n/a
11	chr11:48346680-48346730	PFSK-1	brain:	n/a
12	chr11:48345361-48345411	LNCaP	prostate:	n/a
13	chr11:48346680-48346730	HRCEpiC	kidney:	n/a
14	chr11:48346680-48346730	GM12891	blood:	n/a
15	chr11:48346680-48346730	U87	brain:	n/a
16	chr11:48345815-48345865	NHDF-neo	bronchial:	n/a
17	chr11:48345815-48345865	K562	blood:	n/a
18	chr11:48345361-48345411	AG09309	skin:	n/a
19	chr11:48346680-48346730	Hela-S3	cervix:	n/a
20	chr11:48345361-48345411	AG04449	skin:	fetal
21	chr11:48345361-48345411	PANC-1	pancreas:	n/a
22	chr11:48346680-48346730	RPTEC	kidney:	n/a
23	chr11:48345815-48345865	ECC-1	luminal epithelium:	n/a
24	chr11:48345815-48345865	SK-N-SH	brain:	n/a
25	chr11:48346680-48346730	NHDF-neo	bronchial:	n/a
26	chr11:48345815-48345865	PrEC	prostate:	n/a
27	chr11:48345815-48345865	IMR90	lung:	fetal
28	chr11:48345361-48345411	HCM	heart:	n/a
29	chr11:48346680-48346730	AG04449	skin:	fetal
30	chr11:48346680-48346730	K562	blood:	n/a
31	chr11:48345815-48345865	RPTEC	kidney:	n/a
32	chr11:48346680-48346730	SK-N-SH_RA	brain:	n/a
33	chr11:48345815-48345865	LNCaP	prostate:	n/a
34	chr11:48345361-48345411	HPAEpiC	pulmonary alveolar:	n/a
35	chr11:48346680-48346730	GM12878	blood:	n/a
36	chr11:48345361-48345411	AG09319	gingival:	n/a
37	chr11:48346680-48346730	ECC-1	luminal epithelium:	n/a
38	chr11:48345361-48345411	Hela-S3	cervix:	n/a
39	chr11:48346680-48346730	HUVEC	blood vessel:	n/a
40	chr11:48346680-48346730	HepG2	liver:	n/a
41	chr11:48345815-48345865	AG09319	gingival:	n/a
42	chr11:48345361-48345411	GM12892	blood:	n/a
43	chr11:48345361-48345411	PFSK-1	brain:	n/a
44	chr11:48345815-48345865	AoSMC	blood vessel:	n/a
45	chr11:48345815-48345865	Hela-S3	cervix:	n/a
46	chr11:48345815-48345865	HCT-116	colon:	n/a
47	chr11:48346680-48346730	HNPCEpiC	eye:	n/a
48	chr11:48345815-48345865	Jurkat	blood:	n/a
49	chr11:48345361-48345411	SK-N-MC	brain:	n/a
50	chr11:48346680-48346730	HCM	heart:	n/a

No data

Variant related genes	Relation type
OR4C3	TF binding region
OR4C3	CpG island

Extended variants
information (count: 939 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:939 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs61915347	chr11:48341232-48341233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs529739173	chr11:48341248-48341249	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs80025900	chr11:48341251-48341252	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs546604416	chr11:48341260-48341261	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs5791825	chr11:48341265-48341266	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs78333084	chr11:48341279-48341280	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs73461923	chr11:48341305-48341306	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs559715995	chr11:48341312-48341313	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs532710155	chr11:48341335-48341336	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs73461925	chr11:48341343-48341344	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs552414854	chr11:48341350-48341351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs5791826	chr11:48341362-48341363	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs376582399	chr11:48341363-48341364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs35685813	chr11:48341389-48341390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs569114427	chr11:48341410-48341411	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs538409002	chr11:48341424-48341425	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs77822446	chr11:48341436-48341437	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs77265920	chr11:48341442-48341443	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs113178215	chr11:48341445-48341446	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs368601704	chr11:48341448-48341449	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs548406611	chr11:48341469-48341470	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs12295434	chr11:48341476-48341477	ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs76966237	chr11:48341478-48341479	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs78677980	chr11:48341485-48341486	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs534013238	chr11:48341494-48341495	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs79455010	chr11:48341503-48341504	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs33986153	chr11:48341510-48341511	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs554252588	chr11:48341514-48341515	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs75189655	chr11:48341517-48341518	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs76478515	chr11:48341527-48341528	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs78601581	chr11:48341544-48341545	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs577300091	chr11:48341567-48341568	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs538943278	chr11:48341582-48341583	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs558842768	chr11:48341586-48341587	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs575370585	chr11:48341645-48341646	ZNF genes & repeats Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs386753287	chr11:48341674-48341675	ZNF genes & repeats Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs74887350	chr11:48341675-48341676	ZNF genes & repeats Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs76711241	chr11:48341680-48341681	ZNF genes & repeats Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs79928258	chr11:48341683-48341684	ZNF genes & repeats Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs77393697	chr11:48341746-48341747	ZNF genes & repeats Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs78219854	chr11:48341762-48341763	ZNF genes & repeats Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs75415715	chr11:48341773-48341774	ZNF genes & repeats Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs77311883	chr11:48341779-48341780	ZNF genes & repeats Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs7933130	chr11:48341790-48341791	ZNF genes & repeats Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs78022774	chr11:48341801-48341802	ZNF genes & repeats Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs112816182	chr11:48341807-48341808	ZNF genes & repeats Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs574522592	chr11:48341822-48341823	ZNF genes & repeats Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs12576458	chr11:48341829-48341830	ZNF genes & repeats Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs7948194	chr11:48341840-48341841	ZNF genes & repeats Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs76056835	chr11:48341858-48341859	ZNF genes & repeats Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
small cell lung cancer	20016488	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
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:48341200-48342600	Enhancers	Stomach Mucosa	stomach
2	chr11:48341400-48345800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
3	chr11:48341600-48341800	Bivalent Enhancer	Left Ventricle	heart
4	chr11:48341600-48342000	Bivalent Enhancer	Right Atrium	heart
5	chr11:48341600-48342000	Enhancers	Spleen	Spleen
6	chr11:48341800-48342000	Enhancers	Left Ventricle	heart
7	chr11:48342600-48344400	Weak transcription	Stomach Mucosa	stomach
8	chr11:48344400-48344800	Enhancers	Stomach Mucosa	stomach
9	chr11:48344800-48349800	Weak transcription	Stomach Mucosa	stomach
10	chr11:48346600-48346800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr11:48346600-48347000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
12	chr11:48346600-48347400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr11:48346600-48348600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
14	chr11:48346800-48347400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr11:48348800-48350000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr11:48350000-48355600	Weak transcription	Stomach Mucosa	stomach

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