Variant report

Variant	nsv907019
Chromosome Location	chr16:82508050-82574094
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	BHLHE40	chr16:82566846-82567077	HepG2	liver:	n/a	n/a
2	BHLHE40	chr16:82553427-82553436	K562	blood:	n/a	n/a
3	CEBPB	chr16:82530750-82531041	HepG2	liver:	n/a	chr16:82530900-82530911
4	CEBPB	chr16:82542257-82542432	HepG2	liver:	n/a	chr16:82542337-82542348
5	CEBPB	chr16:82530807-82531037	A549	lung:	n/a	chr16:82530900-82530911
6	CEBPB	chr16:82538545-82538774	H1-hESC	embryonic stem cell:	n/a	n/a
7	CEBPB	chr16:82538508-82538805	HepG2	liver:	n/a	n/a
8	CEBPB	chr16:82530742-82531002	IMR90	lung:	n/a	chr16:82530900-82530911
9	CEBPB	chr16:82558640-82558882	HepG2	liver:	n/a	chr16:82558808-82558825 chr16:82558811-82558823 chr16:82558803-82558815
10	CEBPB	chr16:82538521-82538753	IMR90	lung:	n/a	n/a
11	CEBPB	chr16:82547926-82548214	HepG2	liver:	n/a	chr16:82548075-82548088 chr16:82548075-82548088 chr16:82548075-82548086
12	CEBPB	chr16:82537553-82537671	A549	lung:	n/a	n/a
13	CEBPB	chr16:82547906-82548214	IMR90	lung:	n/a	chr16:82548075-82548088 chr16:82548075-82548088 chr16:82548075-82548086
14	CEBPB	chr16:82515831-82516143	HepG2	liver:	n/a	chr16:82515998-82516011 chr16:82515998-82516009 chr16:82516000-82516011
15	CEBPB	chr16:82538552-82538661	A549	lung:	n/a	n/a
16	CEBPB	chr16:82566825-82567067	HepG2	liver:	n/a	n/a
17	CEBPB	chr16:82573454-82573660	IMR90	lung:	n/a	chr16:82573545-82573556
18	CEBPB	chr16:82530835-82530984	K562	blood:	n/a	chr16:82530900-82530911
19	CEBPB	chr16:82547908-82548186	K562	blood:	n/a	chr16:82548075-82548088 chr16:82548075-82548088 chr16:82548075-82548086
20	CEBPB	chr16:82531391-82531654	A549	lung:	n/a	chr16:82531556-82531569 chr16:82531558-82531567 chr16:82531558-82531567 chr16:82531558-82531567 chr16:82531556-82531567 chr16:82531556-82531569 chr16:82531558-82531567 chr16:82531557-82531568
21	CEBPB	chr16:82531431-82531726	HepG2	liver:	n/a	chr16:82531556-82531569 chr16:82531558-82531567 chr16:82531558-82531567 chr16:82531558-82531567 chr16:82531556-82531567 chr16:82531556-82531569 chr16:82531558-82531567 chr16:82531557-82531568
22	CEBPB	chr16:82573452-82573663	A549	lung:	n/a	chr16:82573545-82573556
23	CEBPB	chr16:82547901-82548207	A549	lung:	n/a	chr16:82548075-82548088 chr16:82548075-82548088 chr16:82548075-82548086
24	CEBPB	chr16:82531543-82531576	Hela-S3	cervix:	n/a	chr16:82531556-82531569 chr16:82531558-82531567 chr16:82531558-82531567 chr16:82531558-82531567 chr16:82531556-82531567 chr16:82531556-82531569 chr16:82531558-82531567 chr16:82531557-82531568
25	CEBPB	chr16:82573402-82573698	HepG2	liver:	n/a	chr16:82573545-82573556
26	CEBPZ	chr16:82534590-82534615	HepG2	liver:	n/a	n/a
27	CTCF	chr16:82540980-82541130	Caco-2	colon:	n/a	chr16:82541047-82541065
28	CTCF	chr16:82541180-82541330	A549	lung:	n/a	n/a
29	CTCF	chr16:82540960-82541110	Caco-2	colon:	n/a	chr16:82541047-82541065
30	CTCF	chr16:82572637-82572684	GM20000	blood:	n/a	n/a
31	CTCF	chr16:82541040-82541190	MCF-7	breast:	n/a	chr16:82541047-82541065
32	CTCF	chr16:82540957-82541109	HepG2	liver:	n/a	chr16:82541047-82541065
33	CTCF	chr16:82541026-82541083	HepG2	liver:	n/a	chr16:82541047-82541065
34	CTCF	chr16:82508363-82508393	GM13976	blood:	n/a	n/a
35	CTCF	chr16:82531780-82531930	GM12864	blood:	n/a	n/a
36	CTCF	chr16:82541041-82541092	MCF-7	breast:	n/a	chr16:82541047-82541065
37	CTCF	chr16:82540880-82541030	A549	lung:	n/a	n/a
38	CTCF	chr16:82540960-82541110	MCF-7	breast:	n/a	chr16:82541047-82541065
39	CTCF	chr16:82541023-82541085	H1-hESC	embryonic stem cell:	n/a	chr16:82541047-82541065
40	CTCF	chr16:82540980-82541130	HCT-116	colon:	n/a	chr16:82541047-82541065
41	CTCF	chr16:82540980-82541130	HEK293	kidney:	n/a	chr16:82541047-82541065
42	CTCF	chr16:82521720-82521870	HepG2	liver:	n/a	n/a
43	CTCF	chr16:82540960-82541110	HRE	kidney:	n/a	chr16:82541047-82541065
44	CTCF	chr16:82541060-82541210	HFF-Myc	foreskin:	n/a	n/a
45	CTCF	chr16:82551820-82551970	GM12872	blood:	n/a	n/a
46	CTCF	chr16:82541000-82541150	HCT-116	colon:	n/a	chr16:82541047-82541065
47	CTCF	chr16:82558680-82558830	HFF-Myc	foreskin:	n/a	n/a
48	CUX1	chr16:82513166-82513176	GM12878	blood:	n/a	n/a
49	E2F4	chr16:82560712-82560912	MCF10A-Er-Src	breast:	n/a	n/a
50	EBF1	chr16:82562536-82562697	GM12878	blood:	n/a	chr16:82562619-82562628 chr16:82562617-82562630 chr16:82562617-82562628

No.	Distal block	Cell Line	Cell type
1	chr16:82565051..82565706-chr20:57214126..57214998,2	MCF-7	breast:
2	chr16:82526650..82528961-chr16:82531671..82534439,2	K562	blood:
3	chr11:24363950..24364495-chr16:82556810..82557446,2	MCF-7	breast:
4	chr16:82562045..82564037-chr16:82564945..82567166,2	K562	blood:
5	chr16:82562045..82564037-chr16:82564945..82567166,2	K562	blood:
6	chr16:82526650..82528961-chr16:82531671..82534439,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MPHOSPH6-7	chr16:82521712-82521846	l_1371_chr16:82520931-82522294_testes
2	lnc-MPHOSPH6-7	chr16:82522196-82522294	l_1371_chr16:82520931-82522294_testes
3	lnc-MPHOSPH6-1	chr16:82531190-82531338	ENSG00000261285.1
4	lnc-MPHOSPH6-1	chr16:82529598-82529657	ENSG00000261285.1
5	lnc-MPHOSPH6-7	chr16:82520932-82521209	l_1371_chr16:82520931-82522294_testes
6	lnc-MPHOSPH6-1	chr16:82544324-82544501	ENSG00000261285.1
7	lnc-CDH13-3	chr16:82510465-82510670	l_1370_chr16:82509272-82510670_heart
8	lnc-MPHOSPH6-1	chr16:82543713-82543912	ENSG00000261285.1
9	lnc-MPHOSPH6-1	chr16:82543994-82544149	ENSG00000261285.1
10	lnc-CDH13-3	chr16:82509273-82510023	l_1370_chr16:82509272-82510670_heart
11	lnc-MPHOSPH6-1	chr16:82544324-82544524	ENSG00000261285.1
12	lnc-MPHOSPH6-1	chr16:82543994-82544149	ENSG00000261285.1

Variant related genes	Relation type
ENSG00000261285	TF binding region

Extended variants
information (count: 2256 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:2256 , 50 per page) page: 1 2 3 4 5 6 7 ... 46

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560516738	chr16:82509280-82509281	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs74030802	chr16:82509288-82509289	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs190048060	chr16:82509295-82509296	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs56239690	chr16:82509296-82509297	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs117771721	chr16:82509301-82509302	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs183122605	chr16:82509323-82509324	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs571627981	chr16:82509357-82509358	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs145505198	chr16:82509358-82509359	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs188656274	chr16:82509379-82509380	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs572127761	chr16:82509382-82509383	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs536486597	chr16:82509383-82509384	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs148831739	chr16:82509406-82509407	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs72828348	chr16:82509451-82509452	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs376105277	chr16:82509455-82509456	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs543552094	chr16:82509464-82509465	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs141519632	chr16:82509523-82509524	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs566809315	chr16:82509531-82509532	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs564716404	chr16:82509536-82509537	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs569327829	chr16:82509546-82509547	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs576817935	chr16:82509637-82509638	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs192988888	chr16:82509641-82509642	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs114937211	chr16:82509642-82509643	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs527990983	chr16:82509716-82509717	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs549136196	chr16:82509734-82509735	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs142495672	chr16:82509737-82509738	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs531656518	chr16:82509768-82509769	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs113595488	chr16:82509770-82509771	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs151120751	chr16:82509815-82509816	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs532567922	chr16:82509818-82509819	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs547361472	chr16:82509826-82509827	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
31	rs565931988	chr16:82509874-82509875	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
32	rs536573761	chr16:82509875-82509876	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
33	rs372992789	chr16:82509876-82509877	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
34	rs569907335	chr16:82509892-82509893	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
35	rs370466761	chr16:82509928-82509929	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
36	rs578098312	chr16:82509956-82509957	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
37	rs558645795	chr16:82509991-82509992	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
38	rs576746691	chr16:82509996-82509997	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
39	rs374544906	chr16:82510010-82510011	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
40	rs140658250	chr16:82510476-82510477	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
41	rs560614584	chr16:82510477-82510478	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
42	rs368225287	chr16:82510509-82510510	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
43	rs541254485	chr16:82510523-82510524	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
44	rs80029651	chr16:82510574-82510575	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
45	rs145725738	chr16:82510599-82510600	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
46	rs540171512	chr16:82510603-82510604	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
47	rs191278743	chr16:82510612-82510613	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
48	rs542913433	chr16:82510614-82510615	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
49	rs371974573	chr16:82510620-82510621	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
50	rs554872929	chr16:82510624-82510625	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Schizophrenia	22958593	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16702952	CNVD
Medulloblastoma	16968546	CNVD
Prostate cancer	19242612	CNVD
Cancer	22429812	CNVD
Ewing''s sarcoma	21437220	CNVD
Ewing''s sarcoma	22429812	CNVD
Melanoma	18172304	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Multiple myeloma	21628407	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	17001317	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17603634	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	17245344	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21806811	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Lung cancer	18438408	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Autism	21865298	CNVD
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	21829676	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16461572	CNVD
Melanoma	20688739	CNVD
Ependymoma	20639864	CNVD
Breast cancer	22522925	CNVD
Autism	20841430	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:82511600-82512800	Enhancers	Fetal Stomach	stomach
2	chr16:82521600-82522000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr16:82529400-82529600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr16:82529600-82529800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr16:82529600-82531000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr16:82529600-82531200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr16:82531000-82532200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr16:82531200-82531600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr16:82531200-82531800	Enhancers	Fetal Lung	lung
10	chr16:82531200-82533000	Enhancers	Brain Germinal Matrix	brain
11	chr16:82531600-82532400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr16:82532200-82535800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr16:82532400-82535600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr16:82533000-82533400	Flanking Active TSS	Brain Germinal Matrix	brain
15	chr16:82533400-82533800	Enhancers	Brain Germinal Matrix	brain
16	chr16:82533800-82538000	Weak transcription	Brain Germinal Matrix	brain
17	chr16:82535600-82536600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr16:82535600-82537200	Bivalent Enhancer	Fetal Stomach	stomach
19	chr16:82535800-82537000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr16:82537200-82541200	Enhancers	Fetal Stomach	stomach
21	chr16:82537800-82541000	Enhancers	Fetal Lung	lung
22	chr16:82538000-82538800	Enhancers	Brain Germinal Matrix	brain
23	chr16:82538200-82541200	Enhancers	Fetal Muscle Trunk	muscle
24	chr16:82538400-82541200	Enhancers	Fetal Muscle Leg	muscle
25	chr16:82538800-82539200	Enhancers	Fetal Kidney	kidney
26	chr16:82538800-82539800	Weak transcription	Brain Germinal Matrix	brain
27	chr16:82539000-82539200	Enhancers	Rectal Mucosa Donor 31	rectum
28	chr16:82539200-82539400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr16:82539200-82540800	Weak transcription	Fetal Kidney	kidney
30	chr16:82539800-82540000	Enhancers	Brain Germinal Matrix	brain
31	chr16:82540000-82541400	Weak transcription	Brain Germinal Matrix	brain
32	chr16:82540200-82540400	Flanking Active TSS	HSMMtube	muscle
33	chr16:82540400-82541000	Enhancers	HSMMtube	muscle
34	chr16:82540600-82540800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
35	chr16:82540600-82541000	Enhancers	Fetal Intestine Small	intestine
36	chr16:82540800-82541000	Enhancers	Fetal Kidney	kidney
37	chr16:82540800-82541200	ZNF genes & repeats	Placenta	Placenta
38	chr16:82541800-82542000	Weak transcription	Brain Germinal Matrix	brain
39	chr16:82542000-82542400	ZNF genes & repeats	Brain Substantia Nigra	brain
40	chr16:82542000-82543000	Enhancers	Brain Germinal Matrix	brain
41	chr16:82542200-82542400	Flanking Active TSS	Brain Hippocampus Middle	brain
42	chr16:82542200-82543200	Enhancers	Brain Anterior Caudate	brain
43	chr16:82542200-82543200	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr16:82542200-82544400	Enhancers	Fetal Brain Male	brain
45	chr16:82542400-82543000	Enhancers	Brain Hippocampus Middle	brain
46	chr16:82542400-82543400	Enhancers	NH-A	brain
47	chr16:82542400-82544000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr16:82542400-82544200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
49	chr16:82542400-82544200	Enhancers	Fetal Brain Female	brain
50	chr16:82542400-82545000	Enhancers	Brain Cingulate Gyrus	brain

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