Variant report

Variant	nsv967485
Chromosome Location	chr7:27066773-27082518
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	7:27061277-27071265..7:27238414-27242313	Hela-S3	cervix:
2	7:27061277-27071265..7:27203007-27207968	H1-hESC	embryonic stem cell:	embryo
3	chr7:27071114..27072708-chr7:27126763..27129361,2	K562	blood:
4	7:27071265-27080138..7:27181770-27195105	K562	blood:

Variant related genes	Relation type
ENSG00000106004	chromatin interactions
ENSG00000078399	chromatin interactions
ENSG00000106031	chromatin interactions
ENSG00000106006	chromatin interactions
ENSG00000254369	chromatin interactions
ENSG00000273433	chromatin interactions
ENSG00000272801	chromatin interactions
ENSG00000105997	chromatin interactions
ENSG00000243766	chromatin interactions

Extended variants
information (count: 548 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:548 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17427197	chr7:27066775-27066776	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs138529222	chr7:27066805-27066806	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs572094006	chr7:27066907-27066908	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs188605940	chr7:27066936-27066937	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs17500187	chr7:27066949-27066950	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs17500194	chr7:27066960-27066961	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs2522829	chr7:27066969-27066970	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs535179375	chr7:27066970-27066971	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs145587820	chr7:27067007-27067008	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs557827141	chr7:27067055-27067056	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs191440138	chr7:27067083-27067084	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs76496959	chr7:27067103-27067104	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs75275112	chr7:27067120-27067121	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs537087298	chr7:27067121-27067122	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs182194719	chr7:27067123-27067124	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs187106511	chr7:27067126-27067127	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs191613742	chr7:27067129-27067130	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs144831652	chr7:27067158-27067159	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs572958621	chr7:27067201-27067202	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs578015407	chr7:27067202-27067203	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs542006868	chr7:27067205-27067206	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs371857300	chr7:27067287-27067288	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs147890933	chr7:27067308-27067309	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs13438531	chr7:27067323-27067324	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs184614192	chr7:27067374-27067375	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs550621772	chr7:27067394-27067395	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs564090693	chr7:27067452-27067453	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs532903117	chr7:27067454-27067455	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs552604896	chr7:27067459-27067460	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs566316005	chr7:27067467-27067468	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs116795775	chr7:27067483-27067484	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs148954105	chr7:27067529-27067530	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs568245505	chr7:27067557-27067558	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs537171681	chr7:27067649-27067650	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs563468013	chr7:27067665-27067666	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs557001357	chr7:27067682-27067683	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs190331067	chr7:27067723-27067724	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs192810740	chr7:27067783-27067784	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs539777219	chr7:27067789-27067790	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs28357113	chr7:27067801-27067802	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs2462902	chr7:27067826-27067827	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs541695089	chr7:27067835-27067836	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs2254463	chr7:27067890-27067891	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs34560524	chr7:27067911-27067912	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs74608528	chr7:27067912-27067913	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs185727042	chr7:27067953-27067954	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs544337576	chr7:27068105-27068106	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs17427204	chr7:27068198-27068199	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs527684081	chr7:27068245-27068246	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs564127469	chr7:27068320-27068321	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:77)

Disease	PMID	Source
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
Melanoma	18172304	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
Endometrioid adenocarcinoma	16974079	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
Non-syndromic sensorineural hearing loss	22570644	CNVD
Cancer	21183584	CNVD
abnormal development	18461090	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21785460	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	21645411	CNVD
Lung adenocarcinoma	17086460	CNVD
Colorectal cancer	19455253	CNVD
Lung cancer	17086460	CNVD
Breast cancer	18852474	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:192 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27065200-27070200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr7:27068000-27068200	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr7:27068000-27068800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr7:27068200-27068600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr7:27068200-27068600	Enhancers	Fetal Kidney	kidney
6	chr7:27068200-27068800	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr7:27068200-27068800	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
8	chr7:27068200-27069200	Enhancers	Stomach Mucosa	stomach
9	chr7:27068200-27069400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
10	chr7:27068200-27071600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr7:27068400-27068600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr7:27068400-27068600	Enhancers	Muscle Satellite Cultured Cells	--
13	chr7:27068400-27068600	Enhancers	Thymus	Thymus
14	chr7:27068400-27068600	Enhancers	HSMMtube	muscle
15	chr7:27068400-27068800	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr7:27068400-27068800	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
17	chr7:27068400-27068800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
18	chr7:27068400-27068800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
19	chr7:27068400-27071800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
20	chr7:27068600-27068800	Enhancers	Osteobl	bone
21	chr7:27068600-27069000	Weak transcription	Fetal Kidney	kidney
22	chr7:27068600-27069400	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
23	chr7:27068600-27071600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr7:27068800-27069000	Bivalent Enhancer	HepG2	liver
25	chr7:27068800-27069800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr7:27068800-27069800	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr7:27068800-27070200	Weak transcription	HSMMtube	muscle
28	chr7:27068800-27070400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr7:27068800-27071200	Weak transcription	Osteobl	bone
30	chr7:27068800-27071800	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr7:27069000-27069200	Enhancers	Fetal Kidney	kidney
32	chr7:27069200-27070400	Weak transcription	Fetal Kidney	kidney
33	chr7:27069200-27070600	Weak transcription	Stomach Mucosa	stomach
34	chr7:27069400-27069600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
35	chr7:27069400-27069800	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr7:27069400-27070000	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr7:27069600-27071200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr7:27069800-27070000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
39	chr7:27069800-27070800	Enhancers	H1 Cell Line	embryonic stem cell
40	chr7:27069800-27070800	Enhancers	Fetal Muscle Leg	muscle
41	chr7:27069800-27071600	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr7:27069800-27071600	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr7:27069800-27071800	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr7:27070000-27070200	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr7:27070000-27070400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
46	chr7:27070200-27070400	Enhancers	HSMM	muscle
47	chr7:27070200-27070600	Enhancers	H9 Cell Line	embryonic stem cell
48	chr7:27070200-27070600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr7:27070200-27070600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
50	chr7:27070200-27070600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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