Variant report

Variant	nsv947782
Chromosome Location	chr10:27172780-27189930
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	chr10:27174566..27175066-chr17:56736124..56737032,2	HCT-116	colon:

Variant related genes	Relation type
ENSG00000202077	chromatin interactions

Extended variants
information (count: 760 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:760 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs138532701	chr10:27172837-27172838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs562869089	chr10:27172846-27172847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs531381414	chr10:27172916-27172917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs117590825	chr10:27172920-27172921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs185233576	chr10:27172929-27172930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs189714188	chr10:27172960-27172961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs568647271	chr10:27172965-27172966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs533989519	chr10:27172966-27172967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs548674081	chr10:27172998-27172999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs547957962	chr10:27173010-27173011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs570845099	chr10:27173038-27173039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs539870695	chr10:27173039-27173040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs576224487	chr10:27173043-27173044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs535752920	chr10:27173057-27173058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs112619251	chr10:27173065-27173066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs572254959	chr10:27173084-27173085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs150804223	chr10:27173085-27173086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs563870586	chr10:27173091-27173092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs9794332	chr10:27173096-27173097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs181127779	chr10:27173112-27173113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs563308688	chr10:27173132-27173133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs370143171	chr10:27173154-27173155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs61662472	chr10:27173155-27173156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs34991710	chr10:27173161-27173162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs548866888	chr10:27173170-27173171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs562138834	chr10:27173228-27173229	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs34151745	chr10:27173247-27173248	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs374468789	chr10:27173252-27173253	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs527920328	chr10:27173273-27173274	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs547890879	chr10:27173293-27173294	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs544189363	chr10:27173296-27173297	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs185337479	chr10:27173331-27173332	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs149533036	chr10:27173332-27173333	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs189655429	chr10:27173393-27173394	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs180860864	chr10:27173398-27173399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs570037755	chr10:27173403-27173404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs147204005	chr10:27173423-27173424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs186560155	chr10:27173443-27173444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs565718906	chr10:27173468-27173469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs367919140	chr10:27173480-27173481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs534534114	chr10:27173482-27173483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs140454985	chr10:27173497-27173498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs534047451	chr10:27173532-27173533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs577283168	chr10:27173555-27173556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs115036245	chr10:27173582-27173583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs61848615	chr10:27173584-27173585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs144727660	chr10:27173627-27173628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs573627263	chr10:27173638-27173639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs76247352	chr10:27173646-27173647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs562433981	chr10:27173691-27173692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Phyllodes tumor	17334353	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
T-cell lymphomas	19863542	CNVD
Esophageal cancer	21851588	CNVD
Behavioral abnormalities	21522184	CNVD
Dysmorphic features	21522184	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Myelofibrosis	22110671	CNVD
Autism	21439084	CNVD
Maculopathy	20981449	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Adrenocortical carcinoma	18281524	CNVD
Breast cancer	21364760	CNVD
abnormal development	18461090	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Acute myeloid leukemia	20824076	CNVD
Pancreatic cancer	17952125	CNVD
Glioblastoma multiforme	21525872	CNVD
Chronic lymphocytic leukemia	21546498	CNVD

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:27170800-27183200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr10:27171200-27172800	Weak transcription	A549	lung
3	chr10:27171400-27181600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr10:27173200-27173400	Enhancers	A549	lung
5	chr10:27176000-27176200	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
6	chr10:27176400-27176800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr10:27176400-27176800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr10:27176400-27177200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr10:27176400-27177200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr10:27176600-27176800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
11	chr10:27176600-27177000	Enhancers	Muscle Satellite Cultured Cells	--
12	chr10:27176600-27177200	Enhancers	NHEK	skin
13	chr10:27176600-27177400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr10:27179200-27180400	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr10:27179800-27180200	Enhancers	Fetal Brain Male	brain
16	chr10:27180000-27180200	Enhancers	Fetal Kidney	kidney
17	chr10:27180200-27180400	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr10:27180400-27182400	Enhancers	Primary B cells from peripheral blood	blood
19	chr10:27180400-27183400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr10:27180600-27181000	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr10:27180600-27181000	Enhancers	Primary B cells from cord blood	blood
22	chr10:27181400-27181600	Enhancers	Fetal Muscle Leg	muscle
23	chr10:27181600-27182000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
24	chr10:27181600-27182000	Enhancers	GM12878-XiMat	blood
25	chr10:27182000-27183400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr10:27183200-27183800	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr10:27183200-27184600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr10:27183400-27183800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
29	chr10:27183400-27183800	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr10:27183400-27184000	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr10:27183400-27184800	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr10:27183400-27184800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr10:27183400-27185200	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr10:27184000-27184400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
35	chr10:27184000-27184400	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr10:27184400-27184800	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr10:27184800-27186200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr10:27184800-27186400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr10:27185200-27186200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr10:27186200-27186400	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr10:27186200-27186600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr10:27186400-27186600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr10:27186400-27187000	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr10:27186400-27187000	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr10:27186600-27192400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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