Variant report

Variant	nsv975815
Chromosome Location	chr10:95563645-95572587
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:95500767..95502675-chr10:95571806..95573761,2	MCF-7	breast:
2	chr10:95461687..95464391-chr10:95571987..95573670,2	MCF-7	breast:
3	chr10:95552135..95553731-chr10:95563327..95566028,2	MCF-7	breast:
4	chr10:95561598..95563448-chr10:95566496..95568221,2	MCF-7	breast:
5	chr10:95569301..95570811-chr10:95582072..95584773,2	K562	blood:

Variant related genes	Relation type
ENSG00000148690	chromatin interactions

Extended variants
information (count: 331 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:331 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373441205	chr10:95563685-95563686	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs529968927	chr10:95563698-95563699	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs550029781	chr10:95563721-95563722	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs192870200	chr10:95563800-95563801	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs372131576	chr10:95563855-95563856	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs150154579	chr10:95563896-95563897	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs184299065	chr10:95563947-95563948	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs138650142	chr10:95563961-95563962	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs10786139	chr10:95563996-95563997	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs547600301	chr10:95564021-95564022	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs567819965	chr10:95564031-95564032	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs141493056	chr10:95564038-95564039	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs187236712	chr10:95564092-95564093	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs576003073	chr10:95564142-95564143	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs565961884	chr10:95564187-95564188	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs80012202	chr10:95564207-95564208	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs191964217	chr10:95564232-95564233	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs533976344	chr10:95564263-95564264	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs184564066	chr10:95564348-95564349	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs35569787	chr10:95564376-95564377	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs541102360	chr10:95564377-95564378	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs373157249	chr10:95564409-95564410	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs190599455	chr10:95564433-95564434	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs577315097	chr10:95564439-95564440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs182324647	chr10:95564449-95564450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs146188687	chr10:95564520-95564521	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs137897109	chr10:95564536-95564537	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs551367100	chr10:95564543-95564544	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs564898759	chr10:95564552-95564553	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs184358772	chr10:95564558-95564559	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs547464296	chr10:95564571-95564572	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs540984574	chr10:95564613-95564614	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs142438001	chr10:95564630-95564631	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs530305044	chr10:95564662-95564663	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs550060810	chr10:95564663-95564664	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs117423353	chr10:95564707-95564708	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs559093812	chr10:95564723-95564724	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs558607960	chr10:95564740-95564741	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs565660919	chr10:95564744-95564745	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs143972567	chr10:95564749-95564750	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs554642220	chr10:95564781-95564782	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs574594433	chr10:95564812-95564813	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs543604411	chr10:95564825-95564826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs189298524	chr10:95564853-95564854	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs556203303	chr10:95564868-95564869	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs577080131	chr10:95564879-95564880	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs545664198	chr10:95564891-95564892	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs57561176	chr10:95564936-95564937	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs527662523	chr10:95564937-95564938	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs111294997	chr10:95564950-95564951	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

Disease	PMID	Source
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Prostate cancer	18632612	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
Squamous cell cancer	21044232	CNVD
Glioma	21971842	CNVD
Cancer	21637783	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Lung cancer	18438408	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Usher syndrome	20538994	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	20729466	CNVD
Prostate cancer	16573809	CNVD
Paraganglioma	17535989	CNVD
Submicroscopic aberration syndrome	21292638	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Pulmonary chondroma	17535989	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Colorectal cancer	18645599	CNVD
Polyposis syndrome	18645599	CNVD
Prostate cancer	17245344	CNVD
Glioblastoma multiforme	17369134	CNVD
Glioblastoma multiforme	21750150	CNVD
Breast cancer	22032731	CNVD
Ovarian cancer	20844748	CNVD
Glioblastoma multiforme	17002787	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21364760	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Wilms tumour	21544195	CNVD
small cell lung cancer	20016488	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	16397240	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Cervical cancer	21062161	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	24453001	CNVD
Breast cancer	16608533	CNVD
Sezary syndrome	18413736	CNVD
Intracranial aneurysm	16715129	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:95557400-95566600	Weak transcription	Brain Anterior Caudate	brain
2	chr10:95563200-95564400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr10:95563400-95564600	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr10:95563400-95564600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr10:95563600-95564400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr10:95563600-95564400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr10:95563600-95564400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr10:95563600-95565000	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr10:95563600-95565200	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr10:95563600-95565600	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr10:95563800-95564000	Enhancers	Fetal Muscle Leg	muscle
12	chr10:95563800-95564400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
13	chr10:95563800-95565000	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr10:95564000-95565400	Weak transcription	Fetal Muscle Leg	muscle
15	chr10:95564400-95565400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr10:95564400-95566600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr10:95564400-95566600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr10:95564400-95566800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr10:95564600-95565400	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr10:95564600-95566200	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr10:95565000-95565800	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr10:95565400-95565600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr10:95565400-95567400	Enhancers	Fetal Muscle Leg	muscle
24	chr10:95565400-95573800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr10:95565600-95572600	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr10:95565800-95566000	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr10:95566200-95567000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr10:95566200-95567200	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr10:95566600-95566800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr10:95566600-95566800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr10:95566600-95566800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr10:95566600-95566800	Enhancers	Brain Anterior Caudate	brain
33	chr10:95566600-95566800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
34	chr10:95566600-95567000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr10:95566600-95567000	Enhancers	Rectal Mucosa Donor 31	rectum
36	chr10:95566600-95567000	Enhancers	Right Atrium	heart
37	chr10:95566600-95567800	Enhancers	Psoas Muscle	Psoas
38	chr10:95566600-95568600	Enhancers	HSMMtube	muscle
39	chr10:95566800-95567000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr10:95566800-95567000	Enhancers	Duodenum Mucosa	Duodenum
41	chr10:95566800-95567000	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr10:95567000-95572400	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr10:95567200-95569200	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr10:95567400-95569800	Weak transcription	Fetal Muscle Leg	muscle
45	chr10:95569800-95570200	Enhancers	Fetal Muscle Leg	muscle
46	chr10:95570200-95575200	Weak transcription	Fetal Muscle Leg	muscle
47	chr10:95570800-95572800	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr10:95571400-95571600	Enhancers	Small Intestine	intestine
49	chr10:95571800-95572000	Enhancers	Fetal Muscle Trunk	muscle
50	chr10:95572000-95572200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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