Variant report

Variant	nsv887786
Chromosome Location	chr7:17200020-17273749
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:23)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:17197527..17200451-chr7:17338316..17340817,2	MCF-7	breast:
2	chr7:17245836..17248500-chr7:18215738..18217248,2	K562	blood:
3	chr7:17209053..17211807-chr7:17213583..17216360,2	K562	blood:
4	chr7:17212673..17214614-chr7:17217204..17219643,2	MCF-7	breast:
5	chr7:17213957..17216585-chr7:17218859..17220590,2	K562	blood:
6	chr7:17216327..17218821-chr7:17225312..17228115,2	MCF-7	breast:
7	chr7:17240479..17243464-chr7:17244945..17247792,2	MCF-7	breast:
8	chr7:17262945..17265608-chr7:17268479..17271188,2	K562	blood:
9	chr14:74292932..74293552-chr7:17269167..17269893,2	MCF-7	breast:
10	chr7:17208762..17211542-chr7:17338009..17340121,2	MCF-7	breast:
11	chr7:17218892..17220636-chr7:17223919..17226233,2	K562	blood:
12	chr7:17235301..17237244-chr7:17237462..17240094,2	K562	blood:
13	chr7:17240479..17243464-chr7:17244945..17247792,2	MCF-7	breast:
14	chr7:17213957..17216585-chr7:17218859..17220590,2	K562	blood:
15	chr10:44864594..44865384-chr7:17269216..17270034,2	MCF-7	breast:
16	chr7:17212673..17214614-chr7:17217204..17219643,2	MCF-7	breast:
17	chr7:17235301..17237244-chr7:17237462..17240094,2	K562	blood:
18	chr7:17209053..17211807-chr7:17213583..17216360,2	K562	blood:
19	chr7:17252549..17254463-chr7:17337327..17339002,2	MCF-7	breast:
20	chr7:17262945..17265608-chr7:17268479..17271188,2	K562	blood:
21	chr7:17216327..17218821-chr7:17225312..17228115,2	MCF-7	breast:
22	chr7:17267082..17269665-chr7:17336978..17339459,3	MCF-7	breast:
23	chr7:17218892..17220636-chr7:17223919..17226233,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AGR3-5	chr7:17265401-17265477	l_3366_chr7:17218321-17304614_testes
2	lnc-AGR3-5	chr7:17218322-17218602	l_3366_chr7:17218321-17304614_testes

No data

Variant related genes	Relation type
ENSG00000106546	chromatin interactions
ENSG00000237773	chromatin interactions

Extended variants
information (count: 2508 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:2508 , 50 per page) page: 1 2 3 4 5 6 7 ... 51

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10499487	chr7:17200020-17200021	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs7806095	chr7:17200049-17200050	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs556790198	chr7:17200067-17200068	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs568901319	chr7:17200111-17200112	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs532851413	chr7:17200112-17200113	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs539669413	chr7:17200118-17200119	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs558411085	chr7:17200120-17200121	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs7806130	chr7:17200134-17200135	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs7789416	chr7:17200158-17200159	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs540967573	chr7:17200160-17200161	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs556092246	chr7:17200169-17200170	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs7806527	chr7:17200217-17200218	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs573951936	chr7:17200244-17200245	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs147637878	chr7:17200275-17200276	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs142373510	chr7:17200295-17200296	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs7806697	chr7:17200312-17200313	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs7806704	chr7:17200328-17200329	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs533435475	chr7:17200339-17200340	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs7810405	chr7:17200349-17200350	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs7793331	chr7:17200351-17200352	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs7810410	chr7:17200361-17200362	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs545084716	chr7:17200385-17200386	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs563982003	chr7:17200401-17200402	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs185348544	chr7:17200406-17200407	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs546496406	chr7:17200416-17200417	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs76493346	chr7:17200451-17200452	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs528898562	chr7:17200452-17200453	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs550523749	chr7:17200458-17200459	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs146356077	chr7:17200463-17200464	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs370662970	chr7:17200466-17200467	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs539552305	chr7:17200499-17200500	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs11773165	chr7:17200506-17200507	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs190202022	chr7:17200512-17200513	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs568935182	chr7:17200551-17200552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs534343370	chr7:17200601-17200602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs113037180	chr7:17200610-17200611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs377381483	chr7:17200676-17200677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs574239061	chr7:17200736-17200737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs537873198	chr7:17200750-17200751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs531564271	chr7:17200760-17200761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs10499488	chr7:17200761-17200762	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs73075657	chr7:17200782-17200783	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs545146736	chr7:17200788-17200789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs376126219	chr7:17200798-17200799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs147864377	chr7:17200835-17200836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs368427079	chr7:17200875-17200876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs572711200	chr7:17200888-17200889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs577523884	chr7:17200898-17200899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs540004968	chr7:17200910-17200911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs201870764	chr7:17200914-17200915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Autism	22495309	CNVD
Depressive disorder	21152026	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:306 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:17199400-17200400	Flanking Active TSS	GM12878-XiMat	blood
2	chr7:17199400-17202400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr7:17199400-17202400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr7:17199600-17200400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr7:17199800-17200600	Enhancers	HepG2	liver
6	chr7:17199800-17202200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr7:17199800-17202400	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr7:17199800-17206200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr7:17202200-17203200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr7:17202400-17202800	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr7:17202400-17203000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr7:17202400-17203200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
13	chr7:17202800-17206400	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr7:17203000-17207400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr7:17203200-17206400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr7:17203200-17207800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr7:17206200-17207000	Enhancers	GM12878-XiMat	blood
18	chr7:17206200-17208200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
19	chr7:17206400-17206600	Enhancers	Psoas Muscle	Psoas
20	chr7:17206400-17206800	Enhancers	HepG2	liver
21	chr7:17206400-17207000	Enhancers	Fetal Thymus	thymus
22	chr7:17206400-17208400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr7:17206400-17209200	Enhancers	Primary T helper cells PMA-I stimulated	--
24	chr7:17206600-17207600	Enhancers	Stomach Mucosa	stomach
25	chr7:17206600-17208400	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr7:17207000-17207400	Weak transcription	GM12878-XiMat	blood
27	chr7:17207000-17208000	Weak transcription	Fetal Thymus	thymus
28	chr7:17207400-17208200	Enhancers	GM12878-XiMat	blood
29	chr7:17207400-17208400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
30	chr7:17207600-17208400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr7:17207600-17208600	Enhancers	Dnd41	blood
32	chr7:17207800-17208200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
33	chr7:17207800-17208200	Enhancers	Small Intestine	intestine
34	chr7:17208000-17208200	Enhancers	Fetal Thymus	thymus
35	chr7:17208000-17208400	Enhancers	Primary T helper naive cells from peripheral blood	blood
36	chr7:17208400-17209200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr7:17209200-17209400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
38	chr7:17209400-17224800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr7:17214200-17215000	Enhancers	Sigmoid Colon	Sigmoid Colon
40	chr7:17214400-17215400	Enhancers	Rectal Mucosa Donor 31	rectum
41	chr7:17217200-17218800	Enhancers	HepG2	liver
42	chr7:17218000-17219000	Enhancers	Fetal Intestine Small	intestine
43	chr7:17218200-17218800	Enhancers	Rectal Mucosa Donor 29	rectum
44	chr7:17218600-17219200	Enhancers	Fetal Intestine Large	intestine
45	chr7:17219000-17224600	Weak transcription	Fetal Intestine Small	intestine
46	chr7:17219200-17224600	Weak transcription	Fetal Intestine Large	intestine
47	chr7:17220200-17220400	Enhancers	Muscle Satellite Cultured Cells	--
48	chr7:17220200-17220800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr7:17220400-17220800	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr7:17220800-17221600	Enhancers	ES-I3 Cell Line	embryonic stem cell

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