Variant report

Variant	nsv7492
Chromosome Location	chr10:94115207-94138463
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:94113172..94116160-chr10:94117822..94119572,2	MCF-7	breast:
2	chr10:94113172..94116160-chr10:94117822..94119572,2	MCF-7	breast:
3	chr10:94051163..94054027-chr10:94136887..94138401,2	K562	blood:

Extended variants
information (count: 88 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:88 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376486389	chr10:94115207-94115208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs386372090	chr10:94115223-94115224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs61444590	chr10:94115224-94115225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs374745629	chr10:94115229-94115230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs150449657	chr10:94115248-94115249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs138044890	chr10:94115264-94115265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs187802032	chr10:94115302-94115303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs12356124	chr10:94115304-94115305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs191163895	chr10:94115305-94115306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs542625841	chr10:94115310-94115311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs118100727	chr10:94115314-94115315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs532037250	chr10:94115331-94115332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs373429258	chr10:94115357-94115358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs182136995	chr10:94115371-94115372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs12356129	chr10:94115376-94115377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs565506882	chr10:94115390-94115391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs111389510	chr10:94115417-94115418	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs12356144	chr10:94115429-94115430	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs56979971	chr10:94115452-94115453	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs527756439	chr10:94115475-94115476	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs143513568	chr10:94115560-94115561	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs145813724	chr10:94115575-94115576	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs187890789	chr10:94115585-94115586	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs138663630	chr10:94115588-94115589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs78282888	chr10:94115634-94115635	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs28411269	chr10:94115641-94115642	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs368473781	chr10:94115657-94115658	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs571490370	chr10:94115673-94115674	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs199514818	chr10:94115674-94115675	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs557653558	chr10:94115716-94115717	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs571495565	chr10:94115756-94115757	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs534002898	chr10:94115771-94115772	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs539465978	chr10:94115796-94115797	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs553870831	chr10:94115827-94115828	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs74151608	chr10:94115833-94115834	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs191168889	chr10:94115850-94115851	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs556163076	chr10:94115853-94115854	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs149179567	chr10:94115922-94115923	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs183632344	chr10:94115923-94115924	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs545709991	chr10:94115925-94115926	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs35352562	chr10:94115927-94115928	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs115474226	chr10:94115961-94115962	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs527845338	chr10:94115997-94115998	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs376129556	chr10:94116071-94116072	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs116921740	chr10:94116119-94116120	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs530179292	chr10:94116130-94116131	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs549899240	chr10:94116152-94116153	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs575283637	chr10:94116158-94116159	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs570052756	chr10:94116207-94116208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs563736921	chr10:94116218-94116219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
Chronic lymphocytic leukemia	20421269	CNVD
Myelofibrosis	22110671	CNVD
Sezary syndrome	18413736	CNVD
Intracranial aneurysm	16715129	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:94105800-94115400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr10:94110000-94115800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr10:94110200-94115800	Weak transcription	Fetal Kidney	kidney
4	chr10:94110200-94115800	Weak transcription	HSMMtube	muscle
5	chr10:94110600-94115800	Weak transcription	Pancreas	Pancrea
6	chr10:94110600-94116000	Weak transcription	Fetal Muscle Leg	muscle
7	chr10:94110600-94116200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr10:94110800-94116000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr10:94111000-94116000	Weak transcription	Primary B cells from cord blood	blood
10	chr10:94111200-94115800	Weak transcription	Right Ventricle	heart
11	chr10:94111200-94116000	Weak transcription	Primary T cells from cord blood	blood
12	chr10:94111200-94116000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr10:94111200-94116200	Weak transcription	Dnd41	blood
14	chr10:94111400-94115600	Weak transcription	Osteobl	bone
15	chr10:94111400-94116000	Weak transcription	Fetal Brain Male	brain
16	chr10:94111400-94116200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr10:94111400-94116600	Weak transcription	HSMM	muscle
18	chr10:94111800-94115600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr10:94112000-94115400	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr10:94112000-94115400	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr10:94112000-94115600	Weak transcription	Fetal Thymus	thymus
22	chr10:94112000-94116600	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr10:94112200-94116200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr10:94112200-94116200	Weak transcription	A549	lung
25	chr10:94112400-94117200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr10:94113400-94115600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr10:94113400-94116800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr10:94114600-94115600	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr10:94114800-94115800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr10:94114800-94116000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr10:94114800-94116400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr10:94115200-94115600	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr10:94115200-94115600	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr10:94115200-94115600	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr10:94115200-94115600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr10:94115200-94115600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr10:94115400-94116000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr10:94115600-94116000	Enhancers	H1 Cell Line	embryonic stem cell
39	chr10:94115600-94116000	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr10:94115600-94116000	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr10:94115600-94116000	Enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr10:94115600-94116200	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr10:94115800-94116000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr10:94115800-94116000	Enhancers	H9 Cell Line	embryonic stem cell
45	chr10:94115800-94116000	Enhancers	Fetal Kidney	kidney
46	chr10:94115800-94116000	Enhancers	Pancreas	Pancrea
47	chr10:94115800-94116000	Enhancers	Right Ventricle	heart
48	chr10:94115800-94116000	Enhancers	HSMMtube	muscle
49	chr10:94116000-94116200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
50	chr10:94116000-94116200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood

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