Variant report

Variant	nsv978000
Chromosome Location	chr16:72037046-72040407
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:122)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr16:72037717-72038056	K562	blood:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:72038759-72038809	GM12878	blood:	n/a
2	chr16:72038759-72038809	ECC-1	luminal epithelium:	n/a
3	chr16:72038759-72038809	GM12892	blood:	n/a
4	chr16:72039127-72039177	CMK	blood:	n/a
5	chr16:72039127-72039177	GM12878	blood:	n/a
6	chr16:72038759-72038809	HAEpiC	amniotic membrane:	n/a
7	chr16:72039127-72039177	T-47D	breast:	n/a
8	chr16:72038759-72038809	MCF10A-Er-Src	breast:	n/a
9	chr16:72038759-72038809	HL-60	blood:	n/a
10	chr16:72038759-72038809	SKMC	muscle:	n/a
11	chr16:72039127-72039177	HUVEC	blood vessel:	n/a
12	chr16:72038759-72038809	ovcar-3	ovarian:	n/a
13	chr16:72038759-72038809	GM19239	blood:	n/a
14	chr16:72038759-72038809	Jurkat	blood:	n/a
15	chr16:72039127-72039177	Caco-2	colon:	n/a
16	chr16:72039127-72039177	RPTEC	kidney:	n/a
17	chr16:72039127-72039177	AG04449	skin:	fetal
18	chr16:72039127-72039177	ProgFib	skin:	n/a
19	chr16:72038759-72038809	Hela-S3	cervix:	n/a
20	chr16:72039127-72039177	HIPEpiC	eye:	n/a
21	chr16:72038759-72038809	HRE	kidney:	n/a
22	chr16:72038759-72038809	HNPCEpiC	eye:	n/a
23	chr16:72038759-72038809	NB4	blood:	n/a
24	chr16:72038759-72038809	PFSK-1	brain:	n/a
25	chr16:72038759-72038809	HUVEC	blood vessel:	n/a
26	chr16:72038759-72038809	IMR90	lung:	fetal
27	chr16:72038759-72038809	MCF-7	breast:	n/a
28	chr16:72038759-72038809	HEEpiC	esophagus:	n/a
29	chr16:72039127-72039177	HepG2	liver:	n/a
30	chr16:72038759-72038809	LNCaP	prostate:	n/a
31	chr16:72039127-72039177	HEK293	kidney:	embryo
32	chr16:72038759-72038809	SAEC	small airway:	n/a
33	chr16:72039127-72039177	NHDF-neo	bronchial:	n/a
34	chr16:72039127-72039177	SK-N-MC	brain:	n/a
35	chr16:72038759-72038809	AG10803	skin:	n/a
36	chr16:72038759-72038809	NHDF-neo	bronchial:	n/a
37	chr16:72039127-72039177	AoSMC	blood vessel:	n/a
38	chr16:72039127-72039177	HCM	heart:	n/a
39	chr16:72039127-72039177	HRPEpiC	eye:	n/a
40	chr16:72039127-72039177	HPAEpiC	pulmonary alveolar:	n/a
41	chr16:72039127-72039177	NT2-D1	testis:	n/a
42	chr16:72039127-72039177	U87	brain:	n/a
43	chr16:72038759-72038809	SK-N-SH_RA	brain:	n/a
44	chr16:72039127-72039177	SAEC	small airway:	n/a
45	chr16:72038759-72038809	Hepatocyte	liver:	n/a
46	chr16:72038759-72038809	AoSMC	blood vessel:	n/a
47	chr16:72039127-72039177	MCF-7	breast:	n/a
48	chr16:72039127-72039177	PANC-1	pancreas:	n/a
49	chr16:72038759-72038809	K562	blood:	n/a
50	chr16:72039127-72039177	IMR90	lung:	fetal

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:72036596..72038959-chr16:72040320..72042460,3	K562	blood:
2	chr16:71916441..71919299-chr16:72035111..72037347,2	MCF-7	breast:
3	chr16:72033688..72035258-chr16:72037385..72040082,2	MCF-7	breast:
4	chr16:72027985..72030147-chr16:72034897..72037159,2	MCF-7	breast:
5	chr16:72036596..72038959-chr16:72040320..72042460,3	K562	blood:

No data

Variant related genes	Relation type
PKD1L3	TF binding region
DHODH	TF binding region
ENSG00000263311	TF binding region
PKD1L3	CpG island
DHODH	CpG island
ENSG00000263311	CpG island
ENSG00000102984	chromatin interactions
ENSG00000182149	chromatin interactions
ENSG00000263311	chromatin interactions
ENSG00000187008	chromatin interactions
ENSG00000263232	chromatin interactions

Extended variants
information (count: 168 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:168 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs111925155	chr16:72037058-72037059	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs545772784	chr16:72037062-72037063	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs569056914	chr16:72037066-72037067	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs529943726	chr16:72037077-72037078	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs549494853	chr16:72037079-72037080	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs567787442	chr16:72037095-72037096	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs547009555	chr16:72037133-72037134	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs568071247	chr16:72037148-72037149	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs188397103	chr16:72037158-72037159	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs78369622	chr16:72037182-72037183	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs57354198	chr16:72037193-72037194	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs4788454	chr16:72037206-72037207	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs538910571	chr16:72037226-72037227	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs180761789	chr16:72037246-72037247	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs117273772	chr16:72037248-72037249	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs536492009	chr16:72037342-72037343	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs55970933	chr16:72037372-72037373	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs554875966	chr16:72037376-72037377	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs572851171	chr16:72037423-72037424	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs186496663	chr16:72037451-72037452	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs564864443	chr16:72037485-72037486	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs576798868	chr16:72037547-72037548	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs544495741	chr16:72037560-72037561	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs190234287	chr16:72037606-72037607	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs111750295	chr16:72037614-72037615	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs372015018	chr16:72037646-72037647	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs548362812	chr16:72037647-72037648	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs560092047	chr16:72037767-72037768	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs180810638	chr16:72037775-72037776	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs546792051	chr16:72037796-72037797	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs56158979	chr16:72037809-72037810	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs571598510	chr16:72037849-72037850	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs77903174	chr16:72037856-72037857	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs538672790	chr16:72037860-72037861	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs550855625	chr16:72037862-72037863	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs569169801	chr16:72037877-72037878	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs536552220	chr16:72037881-72037882	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs528371272	chr16:72037888-72037889	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs573373672	chr16:72037889-72037890	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs4788455	chr16:72037940-72037941	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs376344751	chr16:72037981-72037982	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs533870522	chr16:72037987-72037988	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs558397676	chr16:72037996-72037997	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs11642993	chr16:72038001-72038002	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs544264191	chr16:72038021-72038022	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs562477366	chr16:72038028-72038029	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs567927551	chr16:72038063-72038064	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs11075913	chr16:72038070-72038071	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs542166666	chr16:72038085-72038086	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs201274399	chr16:72038117-72038118	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Prostate cancer	16573809	CNVD
Chordoma	18071362	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 myeloid leukemia	16864856	CNVD
Infiltrating lobular breast cancer	19191266	CNVD
T-cell lymphomas	19863542	CNVD
Hepatocellular carcinoma	16750200	CNVD
Medulloblastoma	16783165	CNVD
Neuroblastoma	21899760	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	18628472	CNVD
Breast cancer	21806811	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21509527	CNVD
Melanoma	22183965	CNVD
Neuroblastoma	18923524	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:72035000-72037800	Enhancers	Primary neutrophils fromperipheralblood	blood
2	chr16:72036400-72041800	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr16:72036600-72038600	Weak transcription	HepG2	liver
4	chr16:72037800-72041000	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr16:72038000-72042600	Weak transcription	Gastric	stomach
6	chr16:72038200-72038400	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr16:72038200-72038400	Enhancers	K562	blood
8	chr16:72038400-72041800	Weak transcription	K562	blood
9	chr16:72038600-72039600	Enhancers	HepG2	liver
10	chr16:72039600-72039800	Flanking Active TSS	HepG2	liver
11	chr16:72039800-72040000	Enhancers	HepG2	liver
12	chr16:72039800-72042000	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr16:72040000-72040400	Bivalent Enhancer	HepG2	liver

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