Variant report

Variant	nsv522500
Chromosome Location	chr7:16921334-16922249
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ESR1	chr7:16921401-16921797	T-47D	breast:	n/a	n/a
2	ESR1	chr7:16921436-16921876	T-47D	breast:	n/a	n/a
3	ESR1	chr7:16921460-16921759	T-47D	breast:	n/a	n/a
4	FOXA1	chr7:16921489-16921703	T-47D	breast:	n/a	n/a
5	NR2F2	chr7:16921432-16921955	MCF-7	breast:	n/a	n/a
6	POLR2A	chr7:16921510-16921643	MCF-7	breast:	n/a	n/a
7	ZNF217	chr7:16921504-16921837	MCF-7	breast:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:16921699-16921749	AG10803	skin:	n/a
2	chr7:16921699-16921749	AG04450	lung:	fetal
3	chr7:16921699-16921749	SK-N-SH	brain:	n/a
4	chr7:16921699-16921749	HepG2	liver:	n/a
5	chr7:16921699-16921749	HRE	kidney:	n/a
6	chr7:16921699-16921749	HRPEpiC	eye:	n/a
7	chr7:16921699-16921749	HUVEC	blood vessel:	n/a
8	chr7:16921699-16921749	AoSMC	blood vessel:	n/a
9	chr7:16921699-16921749	GM12878	blood:	n/a
10	chr7:16921699-16921749	ECC-1	luminal epithelium:	n/a
11	chr7:16921699-16921749	HIPEpiC	eye:	n/a
12	chr7:16921699-16921749	ovcar-3	ovarian:	n/a
13	chr7:16921699-16921749	AG04449	skin:	fetal
14	chr7:16921699-16921749	NB4	blood:	n/a
15	chr7:16921699-16921749	AG09309	skin:	n/a
16	chr7:16921699-16921749	HEEpiC	esophagus:	n/a
17	chr7:16921699-16921749	SK-N-MC	brain:	n/a
18	chr7:16921699-16921749	MCF-7	breast:	n/a
19	chr7:16921699-16921749	HPAEpiC	pulmonary alveolar:	n/a
20	chr7:16921699-16921749	LNCaP	prostate:	n/a
21	chr7:16921699-16921749	U87	brain:	n/a
22	chr7:16921699-16921749	HL-60	blood:	n/a
23	chr7:16921699-16921749	Hela-S3	cervix:	n/a
24	chr7:16921699-16921749	HMEC	breast:	n/a
25	chr7:16921699-16921749	Jurkat	blood:	n/a
26	chr7:16921699-16921749	A549	lung:	n/a
27	chr7:16921699-16921749	NHBE	bronchial:	n/a
28	chr7:16921699-16921749	CMK	blood:	n/a
29	chr7:16921699-16921749	PFSK-1	brain:	n/a
30	chr7:16921699-16921749	NT2-D1	testis:	n/a
31	chr7:16921699-16921749	HNPCEpiC	eye:	n/a
32	chr7:16921699-16921749	SKMC	muscle:	n/a
33	chr7:16921699-16921749	H1-hESC	embryonic stem cell:	embryo
34	chr7:16921699-16921749	RPTEC	kidney:	n/a
35	chr7:16921699-16921749	T-47D	breast:	n/a
36	chr7:16921699-16921749	MCF10A-Er-Src	breast:	n/a
37	chr7:16921699-16921749	BE2_C	brain:	n/a
38	chr7:16921699-16921749	ProgFib	skin:	n/a
39	chr7:16921699-16921749	HCT-116	colon:	n/a
40	chr7:16921699-16921749	PANC-1	pancreas:	n/a
41	chr7:16921699-16921749	GM12891	blood:	n/a
42	chr7:16921699-16921749	GM06990	blood:	n/a
43	chr7:16921699-16921749	SAEC	small airway:	n/a
44	chr7:16921699-16921749	AG09319	gingival:	n/a
45	chr7:16921699-16921749	GM19239	blood:	n/a
46	chr7:16921699-16921749	HCF	heart:	n/a
47	chr7:16921699-16921749	NH-A	brain:	n/a
48	chr7:16921699-16921749	K562	blood:	n/a
49	chr7:16921699-16921749	HCM	heart:	n/a
50	chr7:16921699-16921749	BJ	skin:	n/a

(count:2 , 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:
2	chr7:16842935..16845400-chr7:16919121..16922153,4	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AGR2-1	chr7:16921568-16921597	NONHSAT119307

No data

Variant related genes	Relation type
AGR3	TF binding region
AGR3	CpG island
ENSG00000106541	chromatin interactions

Extended variants
information (count: 47 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:47 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3735251	chr7:16921334-16921335	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs569873228	chr7:16921337-16921338	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs537250902	chr7:16921342-16921343	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs146045667	chr7:16921358-16921359	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs571164847	chr7:16921362-16921363	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs534694286	chr7:16921399-16921400	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs185175508	chr7:16921410-16921411	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs574910288	chr7:16921583-16921584	Enhancers Weak transcription Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
9	rs34843281	chr7:16921590-16921591	Enhancers Weak transcription Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
10	rs188771888	chr7:16921612-16921613	Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs35834535	chr7:16921623-16921624	Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs550088920	chr7:16921639-16921640	Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs138327033	chr7:16921640-16921641	Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs140088608	chr7:16921653-16921654	Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs142002461	chr7:16921655-16921656	Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs543640546	chr7:16921675-16921676	Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs537483797	chr7:16921684-16921685	Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs532462665	chr7:16921690-16921691	Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs554527877	chr7:16921699-16921700	Enhancers Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs540987090	chr7:16921703-16921704	Enhancers Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs181511949	chr7:16921738-16921739	Enhancers Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs567688956	chr7:16921744-16921745	Enhancers Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs529648987	chr7:16921781-16921782	Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs184860708	chr7:16921793-16921794	Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs569458835	chr7:16921815-16921816	Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs201794778	chr7:16921908-16921909	Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs531000524	chr7:16921934-16921935	Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs150886427	chr7:16921942-16921943	Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs571036063	chr7:16921951-16921952	Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs535299535	chr7:16921958-16921959	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs139346000	chr7:16921979-16921980	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs568425624	chr7:16922006-16922007	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs376911737	chr7:16922007-16922008	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs533656494	chr7:16922042-16922043	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs189240612	chr7:16922050-16922051	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs181012097	chr7:16922051-16922052	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs570733591	chr7:16922132-16922133	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs575840176	chr7:16922148-16922149	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs553409418	chr7:16922156-16922157	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs185950444	chr7:16922162-16922163	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs558688622	chr7:16922165-16922166	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs577023385	chr7:16922190-16922191	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs201862139	chr7:16922198-16922199	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs150073299	chr7:16922216-16922217	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs556622472	chr7:16922245-16922246	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs148785143	chr7:16922246-16922247	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs9648222	chr7:16922249-16922250	Enhancers Weak transcription	Chromatin interactive region	1 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:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:16918000-16921600	Active TSS	Duodenum Mucosa	Duodenum
2	chr7:16918200-16922000	Active TSS	Rectal Mucosa Donor 29	rectum
3	chr7:16918400-16922000	Active TSS	Fetal Intestine Large	intestine
4	chr7:16918600-16922000	Active TSS	Fetal Intestine Small	intestine
5	chr7:16919000-16922000	Active TSS	Rectal Mucosa Donor 31	rectum
6	chr7:16920000-16921800	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr7:16920200-16921400	Active TSS	Fetal Stomach	stomach
8	chr7:16920200-16921400	Active TSS	Placenta Amnion	Placenta Amnion
9	chr7:16920600-16923000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr7:16920800-16921800	Weak transcription	Stomach Mucosa	stomach
11	chr7:16921000-16922200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:16921400-16922600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr7:16921600-16922200	Weak transcription	Duodenum Mucosa	Duodenum
14	chr7:16921800-16922200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr7:16921800-16923600	Enhancers	Stomach Mucosa	stomach
16	chr7:16922000-16922200	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr7:16922000-16922600	Enhancers	Fetal Intestine Large	intestine
18	chr7:16922000-16923000	Enhancers	Fetal Intestine Small	intestine
19	chr7:16922000-16931600	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr7:16922200-16922600	Enhancers	Duodenum Mucosa	Duodenum
21	chr7:16922200-16922600	Enhancers	Rectal Mucosa Donor 29	rectum
22	chr7:16922200-16923200	Enhancers	Breast Myoepithelial Primary Cells	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links