Variant report

Variant	nsv550040
Chromosome Location	chr10:18365380-18399519
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:18380812..18382353-chr10:18384602..18387470,2	MCF-7	breast:
2	chr10:17649692..17651543-chr10:18392877..18394730,2	K562	blood:
3	chr10:18380812..18382353-chr10:18384602..18387470,2	MCF-7	breast:
4	chr10:18392878..18393854-chr10:18503287..18504544,6	MCF-7	breast:
5	chr10:18371118..18373619-chr10:18379416..18382844,3	K562	blood:
6	chr10:18371118..18373619-chr10:18379416..18382844,3	K562	blood:

Extended variants
information (count: 1066 )
Associated
traits (count: 41 )

Variant overlapped rSNPs/rCNVs (count:1066 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2497815	chr10:18365380-18365381	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs554873950	chr10:18365394-18365395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs2497816	chr10:18365424-18365425	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs558865275	chr10:18365425-18365426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs190307719	chr10:18365430-18365431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs559077634	chr10:18365438-18365439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs577336926	chr10:18365446-18365447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs112544553	chr10:18365468-18365469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs111903269	chr10:18365469-18365470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs377187736	chr10:18365471-18365472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs60559149	chr10:18365472-18365473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs542856889	chr10:18365485-18365486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs560968831	chr10:18365496-18365497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs117051549	chr10:18365506-18365507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs539976226	chr10:18365509-18365510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs375700995	chr10:18365529-18365530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs564618502	chr10:18365540-18365541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs532052502	chr10:18365560-18365561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs541186497	chr10:18365641-18365642	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs16916827	chr10:18365642-18365643	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs199640718	chr10:18365714-18365715	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs113512954	chr10:18365724-18365725	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs568797399	chr10:18365747-18365748	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs114009224	chr10:18365784-18365785	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs548860957	chr10:18365787-18365788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs566987550	chr10:18365789-18365790	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs534368544	chr10:18365793-18365794	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs572448547	chr10:18365833-18365834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs116321596	chr10:18365863-18365864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs74548180	chr10:18365876-18365877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs145079106	chr10:18365877-18365878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs556598262	chr10:18365878-18365879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs574769881	chr10:18365879-18365880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs182191536	chr10:18365886-18365887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs149364754	chr10:18365888-18365889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs113987646	chr10:18365936-18365937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs143667987	chr10:18365949-18365950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs148078099	chr10:18365950-18365951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs141801897	chr10:18365951-18365952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs147217819	chr10:18365974-18365975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs138868936	chr10:18365986-18365987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs529675955	chr10:18365990-18365991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs550063634	chr10:18365999-18366000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs560861532	chr10:18366009-18366010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs527954932	chr10:18366013-18366014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs142810067	chr10:18366175-18366176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs73591727	chr10:18366192-18366193	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs75994148	chr10:18366193-18366194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs117132521	chr10:18366249-18366250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs568398676	chr10:18366422-18366423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:41)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
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
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal cancer	21851588	CNVD
Intracranial aneurysm	16715129	CNVD
Colorectal cancer	19287155	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Multiple myeloma	16616336	CNVD
T-cell lymphomas	19863542	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD
small cell lung cancer	20016488	CNVD
Epilepsy	22083797	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:18363000-18368000	Weak transcription	Fetal Heart	heart
2	chr10:18365000-18368200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr10:18365600-18365800	Enhancers	H9 Cell Line	embryonic stem cell
4	chr10:18365800-18367200	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr10:18367000-18370000	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr10:18367200-18368400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr10:18367200-18368800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr10:18367200-18369000	Enhancers	H9 Cell Line	embryonic stem cell
9	chr10:18367400-18368800	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr10:18367400-18369600	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr10:18368000-18369600	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr10:18368000-18370000	Enhancers	Fetal Heart	heart
13	chr10:18368200-18369000	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr10:18368200-18369600	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr10:18368400-18369000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr10:18368400-18369000	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr10:18368400-18369000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr10:18368400-18369000	Enhancers	Fetal Stomach	stomach
19	chr10:18368400-18369000	Enhancers	NHDF-Ad	bronchial
20	chr10:18368400-18370000	Enhancers	Brain Substantia Nigra	brain
21	chr10:18368600-18368800	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr10:18368600-18369000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr10:18368600-18369000	Enhancers	Fetal Lung	lung
24	chr10:18368600-18369600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr10:18368600-18369800	Enhancers	Brain Angular Gyrus	brain
26	chr10:18368600-18369800	Enhancers	Brain Cingulate Gyrus	brain
27	chr10:18368800-18369400	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr10:18368800-18370200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr10:18368800-18370400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr10:18369000-18371600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr10:18369000-18374400	Weak transcription	Fetal Lung	lung
32	chr10:18369000-18374600	Weak transcription	Fetal Stomach	stomach
33	chr10:18369400-18369600	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr10:18369600-18370200	Enhancers	Brain Anterior Caudate	brain
35	chr10:18369800-18372200	Weak transcription	Brain Cingulate Gyrus	brain
36	chr10:18370000-18371200	Weak transcription	Fetal Heart	heart
37	chr10:18370200-18372400	Weak transcription	Brain Anterior Caudate	brain
38	chr10:18371200-18372200	Enhancers	Fetal Heart	heart
39	chr10:18371600-18372200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
40	chr10:18371800-18372000	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
41	chr10:18372000-18372200	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
42	chr10:18372200-18372400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr10:18372400-18372600	Enhancers	Brain Anterior Caudate	brain
44	chr10:18374400-18377200	Enhancers	Fetal Lung	lung
45	chr10:18374600-18376200	Weak transcription	Brain Cingulate Gyrus	brain
46	chr10:18374600-18377400	Enhancers	Fetal Stomach	stomach
47	chr10:18374800-18376600	Enhancers	Ovary	ovary
48	chr10:18375000-18376000	Enhancers	Rectal Smooth Muscle	rectum
49	chr10:18375000-18377400	Enhancers	Colon Smooth Muscle	Colon
50	chr10:18375800-18377000	Enhancers	Breast Myoepithelial Primary Cells	Breast

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