Variant report

Variant	nsv526959
Chromosome Location	chr7:16922249-16922366
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:16922326-16922376	HCPEpiC	choroid plexus:	n/a
2	chr7:16922326-16922376	AG09309	skin:	n/a
3	chr7:16922326-16922376	HIPEpiC	eye:	n/a
4	chr7:16922326-16922376	GM19239	blood:	n/a
5	chr7:16922326-16922376	IMR90	lung:	fetal
6	chr7:16922326-16922376	NB4	blood:	n/a
7	chr7:16922326-16922376	SKMC	muscle:	n/a
8	chr7:16922326-16922376	NH-A	brain:	n/a
9	chr7:16922326-16922376	MCF10A-Er-Src	breast:	n/a
10	chr7:16922326-16922376	HUVEC	blood vessel:	n/a
11	chr7:16922326-16922376	ProgFib	skin:	n/a
12	chr7:16922326-16922376	SK-N-SH_RA	brain:	n/a
13	chr7:16922326-16922376	HCT-116	colon:	n/a
14	chr7:16922326-16922376	PrEC	prostate:	n/a
15	chr7:16922326-16922376	HRCEpiC	kidney:	n/a
16	chr7:16922326-16922376	PANC-1	pancreas:	n/a
17	chr7:16922326-16922376	Hepatocyte	liver:	n/a
18	chr7:16922326-16922376	H1-hESC	embryonic stem cell:	embryo
19	chr7:16922326-16922376	HRPEpiC	eye:	n/a
20	chr7:16922326-16922376	A549	lung:	n/a
21	chr7:16922326-16922376	HEK293	kidney:	embryo
22	chr7:16922326-16922376	Caco-2	colon:	n/a
23	chr7:16922326-16922376	GM12891	blood:	n/a
24	chr7:16922326-16922376	HMEC	breast:	n/a
25	chr7:16922326-16922376	LNCaP	prostate:	n/a
26	chr7:16922326-16922376	HCF	heart:	n/a
27	chr7:16922326-16922376	AoSMC	blood vessel:	n/a
28	chr7:16922326-16922376	CMK	blood:	n/a
29	chr7:16922326-16922376	NHDF-neo	bronchial:	n/a
30	chr7:16922326-16922376	AG04450	lung:	fetal
31	chr7:16922326-16922376	HCM	heart:	n/a
32	chr7:16922326-16922376	SK-N-SH	brain:	n/a
33	chr7:16922326-16922376	SK-N-MC	brain:	n/a
34	chr7:16922326-16922376	Hela-S3	cervix:	n/a
35	chr7:16922326-16922376	BE2_C	brain:	n/a
36	chr7:16922326-16922376	MCF-7	breast:	n/a
37	chr7:16922326-16922376	K562	blood:	n/a
38	chr7:16922326-16922376	ECC-1	luminal epithelium:	n/a
39	chr7:16922326-16922376	HEEpiC	esophagus:	n/a
40	chr7:16922326-16922376	HAEpiC	amniotic membrane:	n/a
41	chr7:16922326-16922376	AG09319	gingival:	n/a
42	chr7:16922326-16922376	SAEC	small airway:	n/a
43	chr7:16922326-16922376	ovcar-3	ovarian:	n/a
44	chr7:16922326-16922376	GM12878	blood:	n/a
45	chr7:16922326-16922376	NHBE	bronchial:	n/a
46	chr7:16922326-16922376	Jurkat	blood:	n/a
47	chr7:16922326-16922376	HPAEpiC	pulmonary alveolar:	n/a
48	chr7:16922326-16922376	HL-60	blood:	n/a
49	chr7:16922326-16922376	NT2-D1	testis:	n/a
50	chr7:16922326-16922376	HRE	kidney:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:16840761..16845436-chr7:16917964..16923686,10	MCF-7	breast:

No data

Variant related genes	Relation type
AGR3	CpG island
ENSG00000106541	chromatin interactions

Extended variants
information (count: 13 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9648222	chr7:16922249-16922250	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs11976539	chr7:16922255-16922256	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs145054244	chr7:16922277-16922278	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs147553995	chr7:16922291-16922292	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs142102443	chr7:16922302-16922303	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs191273859	chr7:16922306-16922307	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs145849597	chr7:16922317-16922318	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs115030504	chr7:16922326-16922327	Enhancers Weak transcription	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs538640833	chr7:16922330-16922331	Enhancers Weak transcription	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs181107630	chr7:16922331-16922332	Enhancers Weak transcription	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs202228773	chr7:16922334-16922335	Enhancers Weak transcription	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs551019553	chr7:16922341-16922342	Enhancers Weak transcription	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs10950638	chr7:16922366-16922367	Enhancers Weak transcription	CpG island Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Melanoma	17363583	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Prostate cancer	19242612	CNVD
Autism	18414403	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21858162	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Heart disease	21282601	CNVD
Rubinstein-Taybi syndrome	22470819	CNVD
Alzheimer''s disease	22166940	CNVD
Abnormal phenotypes	18644119	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Bladder cancer	21909424	CNVD
Cancer	21183584	CNVD
Autism	20808228	CNVD
Sezary syndrome	18413736	CNVD
Multiple myeloma	17550852	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Autism	22495309	CNVD
Bipolar disorder	19114987	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:16920600-16923000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr7:16921400-16922600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr7:16921800-16923600	Enhancers	Stomach Mucosa	stomach
4	chr7:16922000-16922600	Enhancers	Fetal Intestine Large	intestine
5	chr7:16922000-16923000	Enhancers	Fetal Intestine Small	intestine
6	chr7:16922000-16931600	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr7:16922200-16922600	Enhancers	Duodenum Mucosa	Duodenum
8	chr7:16922200-16922600	Enhancers	Rectal Mucosa Donor 29	rectum
9	chr7:16922200-16923200	Enhancers	Breast Myoepithelial Primary Cells	Breast

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