Variant report

Variant	nsv1015777
Chromosome Location	chr7:14661754-14730811
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr7:13319140..13319925-chr7:14729283..14730100,2	K562	blood:
2	chr7:14673431..14676037-chr7:14677776..14679633,2	K562	blood:
3	chr7:14703530..14706793-chr7:14707958..14711601,3	K562	blood:
4	chr7:14703530..14706793-chr7:14707958..14711601,3	K562	blood:
5	chr3:12494362..12494952-chr7:14705333..14705867,2	MCF-7	breast:
6	chr7:13321688..13322613-chr7:14730587..14732153,8	MCF-7	breast:
7	chr7:14657855..14660530-chr7:14668724..14671460,2	K562	blood:
8	chr7:14673431..14676037-chr7:14677776..14679633,2	K562	blood:
9	chr19:16666192..16668133-chr7:14727799..14729299,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000127526	chromatin interactions

Extended variants
information (count: 1966 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:1966 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573570244	chr7:14661828-14661829	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs190263648	chr7:14661835-14661836	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs556003299	chr7:14661884-14661885	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs572671992	chr7:14661910-14661911	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs112262736	chr7:14661913-14661914	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs147399831	chr7:14661919-14661920	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs7800794	chr7:14661930-14661931	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs374255613	chr7:14661994-14661995	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs114465345	chr7:14662013-14662014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs563671985	chr7:14662039-14662040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs181470016	chr7:14662109-14662110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs80212299	chr7:14662115-14662116	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs562715926	chr7:14662139-14662140	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs532183627	chr7:14662160-14662161	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs28715709	chr7:14662176-14662177	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs528393336	chr7:14662211-14662212	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs551123049	chr7:14662233-14662234	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs571105158	chr7:14662268-14662269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs186712033	chr7:14662296-14662297	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs73059497	chr7:14662300-14662301	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs567274944	chr7:14662318-14662319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs199949397	chr7:14662379-14662380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs536216631	chr7:14662536-14662537	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs192072931	chr7:14662566-14662567	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs149434412	chr7:14665634-14665635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs73053206	chr7:14665654-14665655	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs534085774	chr7:14665659-14665660	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs953604	chr7:14665675-14665676	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs79114031	chr7:14665685-14665686	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs546046288	chr7:14665687-14665688	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs114502138	chr7:14665697-14665698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs576101011	chr7:14665715-14665716	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs546715367	chr7:14665720-14665721	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs553729691	chr7:14665728-14665729	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs547620172	chr7:14665761-14665762	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs541417864	chr7:14665765-14665766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs567054568	chr7:14665772-14665773	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs180683688	chr7:14665796-14665797	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs113930864	chr7:14665827-14665828	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs546880222	chr7:14665886-14665887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs560447272	chr7:14665900-14665901	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs532547130	chr7:14665905-14665906	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs552376003	chr7:14665926-14665927	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs117099791	chr7:14665948-14665949	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs183833606	chr7:14665959-14665960	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs548244258	chr7:14665964-14665965	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs568441292	chr7:14666026-14666027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs534228526	chr7:14666033-14666034	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs554084760	chr7:14666064-14666065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs74826755	chr7:14666113-14666114	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
Colorectal cancer	16272173	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
Myelofibrosis	22110671	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Colorectal cancer	21645411	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:14661800-14662600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr7:14662000-14662600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:14665600-14666200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr7:14665800-14666000	Enhancers	Pancreas	Pancrea
5	chr7:14665800-14666000	Enhancers	Spleen	Spleen
6	chr7:14665800-14666200	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr7:14671000-14671400	Active TSS	Liver	Liver
8	chr7:14671400-14671600	Enhancers	Liver	Liver
9	chr7:14671600-14671800	Flanking Active TSS	Liver	Liver
10	chr7:14671800-14675000	Weak transcription	Liver	Liver
11	chr7:14675000-14679600	Enhancers	Liver	Liver
12	chr7:14675800-14676400	Enhancers	Rectal Mucosa Donor 29	rectum
13	chr7:14676000-14676600	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr7:14676600-14678200	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr7:14677800-14678400	Weak transcription	Left Ventricle	heart
16	chr7:14678200-14678600	Enhancers	Stomach Mucosa	stomach
17	chr7:14678200-14679600	Enhancers	Rectal Mucosa Donor 31	rectum
18	chr7:14678200-14680400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr7:14678400-14678600	Enhancers	Left Ventricle	heart
20	chr7:14678600-14679000	Weak transcription	Stomach Mucosa	stomach
21	chr7:14678600-14679200	Weak transcription	Left Ventricle	heart
22	chr7:14678800-14679000	Enhancers	Duodenum Mucosa	Duodenum
23	chr7:14678800-14680000	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr7:14678800-14680400	Enhancers	HMEC	breast
25	chr7:14679000-14679200	Enhancers	Pancreas	Pancrea
26	chr7:14679000-14679800	Enhancers	NHEK	skin
27	chr7:14679000-14680200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr7:14679000-14680200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr7:14679000-14680200	Enhancers	Stomach Mucosa	stomach
30	chr7:14679200-14679400	Enhancers	Left Ventricle	heart
31	chr7:14679200-14683200	Weak transcription	Pancreas	Pancrea
32	chr7:14679600-14679800	Enhancers	Duodenum Mucosa	Duodenum
33	chr7:14680400-14684800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr7:14682000-14683200	Weak transcription	Spleen	Spleen
35	chr7:14682800-14685400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
36	chr7:14683200-14683600	ZNF genes & repeats	Pancreas	Pancrea
37	chr7:14683200-14683600	Enhancers	Spleen	Spleen
38	chr7:14684600-14685000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
39	chr7:14684600-14685200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr7:14684600-14685200	ZNF genes & repeats	Liver	Liver
41	chr7:14684600-14685400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr7:14684800-14685000	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr7:14687400-14687800	Active TSS	HUES6 Cell Line	embryonic stem cell
44	chr7:14704200-14736000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr7:14706400-14712000	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr7:14712000-14712800	Strong transcription	Cortex derived primary cultured neurospheres	brain
47	chr7:14712800-14775200	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr7:14713400-14714600	Enhancers	Fetal Heart	heart
49	chr7:14714600-14717800	Weak transcription	Fetal Heart	heart
50	chr7:14717800-14719000	Enhancers	Fetal Heart	heart

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