Variant report

Variant	nsv887805
Chromosome Location	chr7:17634634-17681020
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:43784659..43785489-chr7:17669385..17670101,2	MCF-7	breast:
2	chr7:17359018..17361651-chr7:17678830..17681326,2	MCF-7	breast:
3	chr7:17661017..17663957-chr7:17664042..17665980,2	MCF-7	breast:
4	chr7:17662491..17664335-chr7:17674964..17676646,2	K562	blood:
5	chr18:3406071..3406571-chr7:17665685..17666459,2	MCF-7	breast:
6	chr7:17674659..17676858-chr7:17678582..17681568,2	MCF-7	breast:
7	chr7:17657830..17658417-chr7:17668431..17669006,2	MCF-7	breast:
8	chr7:17662491..17664335-chr7:17674964..17676646,2	K562	blood:
9	chr7:17661017..17663957-chr7:17664042..17665980,2	MCF-7	breast:
10	chr7:17595637..17596623-chr7:17657831..17658483,2	MCF-7	breast:
11	chr7:17674659..17676858-chr7:17678582..17681568,2	MCF-7	breast:
12	chr7:17657830..17658417-chr7:17668431..17669006,2	MCF-7	breast:

No data

Extended variants
information (count: 2121 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:2121 , 50 per page) page: 1 2 3 4 5 6 7 ... 43

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1230423	chr7:17634634-17634635	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs555979414	chr7:17634658-17634659	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs78356354	chr7:17634682-17634683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs538384544	chr7:17634683-17634684	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs553854001	chr7:17634690-17634691	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs73684414	chr7:17634733-17634734	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs543915780	chr7:17634735-17634736	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs187353756	chr7:17634737-17634738	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs192684251	chr7:17634755-17634756	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs146672448	chr7:17634784-17634785	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs77702853	chr7:17634789-17634790	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs59857367	chr7:17634810-17634811	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs201626347	chr7:17634852-17634853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs183331381	chr7:17634879-17634880	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs75995282	chr7:17634888-17634889	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs187997513	chr7:17634908-17634909	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs114199213	chr7:17634960-17634961	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs34458078	chr7:17634965-17634966	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs559804863	chr7:17634974-17634975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs77588558	chr7:17635064-17635065	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs112314624	chr7:17635065-17635066	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs80213226	chr7:17635077-17635078	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs16871700	chr7:17635097-17635098	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs145564411	chr7:17635099-17635100	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs1230424	chr7:17635119-17635120	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs11973074	chr7:17635261-17635262	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs375519391	chr7:17635301-17635302	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs77599372	chr7:17635350-17635351	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs146531253	chr7:17635417-17635418	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs113769221	chr7:17635439-17635440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs113091619	chr7:17635459-17635460	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs76257545	chr7:17635488-17635489	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs557154895	chr7:17635500-17635501	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs118121510	chr7:17635539-17635540	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs111963434	chr7:17635569-17635570	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs576786378	chr7:17635585-17635586	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs79235468	chr7:17635606-17635607	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs10237027	chr7:17635619-17635620	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs536011210	chr7:17635665-17635666	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs79435299	chr7:17635710-17635711	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs577323382	chr7:17635711-17635712	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs563917939	chr7:17635731-17635732	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs113805637	chr7:17635736-17635737	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs140822217	chr7:17635742-17635743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs114613901	chr7:17635750-17635751	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs530253601	chr7:17635764-17635765	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs559721427	chr7:17635766-17635767	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs563370795	chr7:17635769-17635770	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs150148940	chr7:17635793-17635794	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs554755076	chr7:17635801-17635802	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
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
Autism	22495309	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:264 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:17632800-17636000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr7:17633200-17634800	Enhancers	NHDF-Ad	bronchial
3	chr7:17634000-17638400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr7:17634000-17638600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr7:17634200-17638800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr7:17634600-17635800	Enhancers	Hela-S3	cervix
7	chr7:17634800-17635000	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr7:17634800-17638400	Weak transcription	NHDF-Ad	bronchial
9	chr7:17635800-17637000	Weak transcription	Hela-S3	cervix
10	chr7:17637000-17637400	Enhancers	Rectal Mucosa Donor 29	rectum
11	chr7:17637000-17639400	Enhancers	Hela-S3	cervix
12	chr7:17637200-17638200	Enhancers	Sigmoid Colon	Sigmoid Colon
13	chr7:17637400-17639400	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr7:17638000-17639200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr7:17638000-17639200	Enhancers	NHEK	skin
16	chr7:17638000-17639600	Enhancers	Muscle Satellite Cultured Cells	--
17	chr7:17638000-17640200	Enhancers	Rectal Mucosa Donor 31	rectum
18	chr7:17638000-17641600	Enhancers	Stomach Mucosa	stomach
19	chr7:17638000-17642000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr7:17638000-17642200	Enhancers	HMEC	breast
21	chr7:17638000-17643000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr7:17638200-17639600	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr7:17638400-17639600	Enhancers	Osteobl	bone
24	chr7:17638400-17641800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr7:17638400-17642200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr7:17638400-17642200	Enhancers	NHDF-Ad	bronchial
27	chr7:17638600-17639600	Enhancers	A549	lung
28	chr7:17638600-17640600	Enhancers	NH-A	brain
29	chr7:17638600-17641000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr7:17638600-17641200	Enhancers	NHLF	lung
31	chr7:17638800-17640800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr7:17639200-17639800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr7:17639200-17640400	Flanking Active TSS	NHEK	skin
34	chr7:17639400-17640000	Flanking Active TSS	Hela-S3	cervix
35	chr7:17639400-17640200	Enhancers	Rectal Mucosa Donor 29	rectum
36	chr7:17639400-17640400	Enhancers	HepG2	liver
37	chr7:17639400-17640400	Enhancers	HSMMtube	muscle
38	chr7:17639400-17640400	Enhancers	HUVEC	blood vessel
39	chr7:17639400-17640600	Enhancers	HSMM	muscle
40	chr7:17639400-17640800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr7:17639600-17639800	Enhancers	Sigmoid Colon	Sigmoid Colon
42	chr7:17639600-17640000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
43	chr7:17639600-17640000	Flanking Active TSS	Osteobl	bone
44	chr7:17639600-17640400	Flanking Active TSS	A549	lung
45	chr7:17639600-17641000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr7:17639800-17640200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr7:17639800-17642800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr7:17640000-17640400	Enhancers	Placenta Amnion	Placenta Amnion
49	chr7:17640000-17640800	Enhancers	Osteobl	bone
50	chr7:17640000-17641200	Enhancers	Muscle Satellite Cultured Cells	--

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