Variant report

Variant	nsv606433
Chromosome Location	chr7:26007582-26050920
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:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:26048553..26051389-chr7:26053656..26055381,2	K562	blood:
2	chr7:25990295..25993400-chr7:26020103..26023231,3	MCF-7	breast:
3	chr7:26035423..26036364-chr7:26100860..26101483,2	MCF-7	breast:
4	chr7:26014155..26016824-chr7:26226230..26228691,2	K562	blood:
5	chr7:26012088..26013995-chr7:26018916..26021896,2	MCF-7	breast:
6	chr7:26034062..26036742-chr7:26049058..26051711,2	K562	blood:
7	chr7:25989577..25991180-chr7:26014942..26017299,2	K562	blood:
8	chr7:26035382..26036550-chr7:26101032..26101905,6	MCF-7	breast:
9	chr7:25989287..25991159-chr7:26005525..26008414,2	MCF-7	breast:
10	chr7:26049479..26051389-chr7:26053881..26055684,2	K562	blood:
11	chr7:26001248..26003021-chr7:26014968..26017941,2	K562	blood:
12	chr7:26040752..26042589-chr7:26209168..26210697,2	K562	blood:
13	chr7:26034062..26036742-chr7:26049058..26051711,2	K562	blood:
14	chr7:25933954..25935974-chr7:26016586..26018998,2	MCF-7	breast:
15	chr7:26012088..26013995-chr7:26018916..26021896,2	MCF-7	breast:
16	chr7:26017997..26020642-chr7:26020861..26022607,2	K562	blood:
17	chr7:26039507..26041159-chr7:26046905..26048859,2	MCF-7	breast:
18	chr7:26024108..26025764-chr7:26238840..26240758,2	MCF-7	breast:
19	chr7:26044346..26047065-chr7:26096452..26098804,2	MCF-7	breast:
20	chr7:26017997..26020642-chr7:26020861..26022607,2	K562	blood:
21	chr7:26044998..26045618-chr9:87815434..87816194,2	MCF-7	breast:
22	chr7:26039507..26041159-chr7:26046905..26048859,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000122566	chromatin interactions
ENSG00000199085	chromatin interactions

Extended variants
information (count: 1193 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:1193 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7786527	chr7:26007582-26007583	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs140938690	chr7:26007628-26007629	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs555838360	chr7:26007644-26007645	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs575474441	chr7:26007678-26007679	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs551203541	chr7:26007679-26007680	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs562436347	chr7:26007684-26007685	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs558060308	chr7:26007688-26007689	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs578169414	chr7:26007699-26007700	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs2076881	chr7:26007702-26007703	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs560238435	chr7:26007716-26007717	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs150183336	chr7:26007745-26007746	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs138844771	chr7:26007767-26007768	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs114058437	chr7:26007768-26007769	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs17152959	chr7:26007832-26007833	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs551572834	chr7:26007838-26007839	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs148953580	chr7:26007840-26007841	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs184351036	chr7:26007844-26007845	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs144805229	chr7:26007849-26007850	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs138656056	chr7:26007905-26007906	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs573257326	chr7:26007942-26007943	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs529524199	chr7:26008007-26008008	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs141707470	chr7:26008013-26008014	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs189560175	chr7:26008026-26008027	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs745580	chr7:26008052-26008053	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	disease
25	rs193221463	chr7:26008055-26008056	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs566607331	chr7:26008092-26008093	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs185506481	chr7:26008093-26008094	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs733645	chr7:26008099-26008100	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs146279382	chr7:26008117-26008118	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs2012224	chr7:26008165-26008166	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs2391211	chr7:26008233-26008234	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs137975161	chr7:26008236-26008237	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs180848462	chr7:26008238-26008239	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs148047931	chr7:26008250-26008251	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs576571840	chr7:26008284-26008285	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs545232867	chr7:26008288-26008289	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs186728597	chr7:26008290-26008291	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs141634025	chr7:26008317-26008318	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs9639524	chr7:26008365-26008366	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs150508738	chr7:26008366-26008367	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs188393404	chr7:26008397-26008398	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs549340569	chr7:26008398-26008399	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs4521656	chr7:26008408-26008409	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs532040904	chr7:26008415-26008416	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs552243902	chr7:26008464-26008465	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs571785562	chr7:26008469-26008470	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs534387190	chr7:26008476-26008477	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs559585601	chr7:26008482-26008483	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs75607486	chr7:26008522-26008523	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs114710963	chr7:26008537-26008538	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	21645411	CNVD
Lung adenocarcinoma	17086460	CNVD
Colorectal cancer	19455253	CNVD
Lung cancer	17086460	CNVD
Breast cancer	18852474	CNVD
early-passage human iPS cells	21368824	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:164 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:26002800-26009000	Weak transcription	Right Atrium	heart
2	chr7:26006000-26009000	Flanking Active TSS	GM12878-XiMat	blood
3	chr7:26006200-26008800	Active TSS	Rectal Mucosa Donor 29	rectum
4	chr7:26006600-26008800	Enhancers	Pancreas	Pancrea
5	chr7:26006600-26009000	Enhancers	Fetal Muscle Leg	muscle
6	chr7:26006800-26007600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
7	chr7:26006800-26008000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr7:26006800-26008000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr7:26007000-26007800	Bivalent Enhancer	Duodenum Mucosa	Duodenum
10	chr7:26007000-26008000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
11	chr7:26007000-26008800	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr7:26007000-26008800	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr7:26007200-26007800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr7:26007200-26008000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
15	chr7:26007200-26008400	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr7:26007200-26008800	Enhancers	Spleen	Spleen
17	chr7:26007200-26009000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr7:26007200-26009200	Enhancers	Fetal Muscle Trunk	muscle
19	chr7:26007400-26007800	Weak transcription	Gastric	stomach
20	chr7:26007400-26008000	Enhancers	Primary B cells from peripheral blood	blood
21	chr7:26007400-26008400	Enhancers	Primary T helper cells fromperipheralblood	blood
22	chr7:26007400-26008800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr7:26007400-26009600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr7:26007600-26008600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
25	chr7:26007800-26008400	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
26	chr7:26007800-26008400	Enhancers	Gastric	stomach
27	chr7:26007800-26008600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
28	chr7:26008000-26008200	Enhancers	HSMM	muscle
29	chr7:26008000-26008200	Enhancers	Osteobl	bone
30	chr7:26008000-26008400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
31	chr7:26008000-26008400	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
32	chr7:26008000-26008600	Flanking Active TSS	Primary B cells from peripheral blood	blood
33	chr7:26008000-26008600	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
34	chr7:26008000-26008600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
35	chr7:26008000-26008600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr7:26008200-26008400	Enhancers	K562	blood
37	chr7:26008400-26008600	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
38	chr7:26008400-26008600	Bivalent Enhancer	Placenta	Placenta
39	chr7:26008400-26008600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
40	chr7:26008400-26008800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
41	chr7:26008600-26008800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
42	chr7:26008600-26008800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
43	chr7:26008600-26008800	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
44	chr7:26008600-26008800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
45	chr7:26008600-26008800	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
46	chr7:26008600-26009000	Enhancers	Primary B cells from peripheral blood	blood
47	chr7:26008800-26010000	Weak transcription	Pancreas	Pancrea
48	chr7:26009000-26009400	Enhancers	GM12878-XiMat	blood
49	chr7:26009000-26010200	Weak transcription	Fetal Muscle Leg	muscle
50	chr7:26009400-26010800	Weak transcription	GM12878-XiMat	blood

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