Variant report

Variant	nsv25396
Chromosome Location	chr10:27465029-27467324
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:27458688..27461739-chr10:27465674..27469163,4	K562	blood:
2	chr10:27443625..27447157-chr10:27465187..27468235,4	K562	blood:
3	chr10:27467111..27469308-chr10:27477269..27478841,2	MCF-7	breast:
4	chr10:27464535..27466928-chr10:27523135..27525972,2	K562	blood:

Variant related genes	Relation type
ENSG00000120539	chromatin interactions
ENSG00000136758	chromatin interactions
ENSG00000263577	chromatin interactions

Extended variants
information (count: 73 )
Associated
traits (count: 46 )

Variant overlapped rSNPs/rCNVs (count:73 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553705457	chr10:27465042-27465043	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs573548589	chr10:27465057-27465058	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs545630106	chr10:27465086-27465087	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs565510010	chr10:27465107-27465108	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs566469320	chr10:27465118-27465119	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs572655179	chr10:27465165-27465166	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs140221131	chr10:27465173-27465174	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs144153765	chr10:27465247-27465248	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs561395687	chr10:27465281-27465282	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs7910168	chr10:27465296-27465297	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs368130939	chr10:27465353-27465354	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs560034011	chr10:27465379-27465380	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs532307649	chr10:27465396-27465397	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs552031315	chr10:27465436-27465437	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs569005507	chr10:27465444-27465445	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs79219816	chr10:27465485-27465486	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs538074472	chr10:27465518-27465519	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs547988294	chr10:27465576-27465577	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs568098791	chr10:27465682-27465683	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs533575255	chr10:27465688-27465689	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs553768450	chr10:27465694-27465695	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs372229335	chr10:27465710-27465711	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs138122627	chr10:27465739-27465740	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs576889462	chr10:27465744-27465745	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs788217	chr10:27465746-27465747	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs11334357	chr10:27465779-27465780	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs150915773	chr10:27465811-27465812	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs2887190	chr10:27465828-27465829	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs189982752	chr10:27465835-27465836	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs544746552	chr10:27465869-27465870	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs561249151	chr10:27465935-27465936	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs542262098	chr10:27465963-27465964	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs375266226	chr10:27466077-27466078	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs574803858	chr10:27466139-27466140	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs7091723	chr10:27466165-27466166	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs540314528	chr10:27466187-27466188	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs12774853	chr10:27466220-27466221	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs532369155	chr10:27466229-27466230	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs552094264	chr10:27466238-27466239	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs562761119	chr10:27466295-27466296	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs531407795	chr10:27466296-27466297	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs551037344	chr10:27466348-27466349	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs548337272	chr10:27466400-27466401	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs568077374	chr10:27466446-27466447	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs553834285	chr10:27466450-27466451	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs533905724	chr10:27466466-27466467	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs7091128	chr10:27466473-27466474	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs150996951	chr10:27466570-27466571	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs369809454	chr10:27466613-27466614	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs74755602	chr10:27466634-27466635	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:46)

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
Glioblastoma multiforme	21525872	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:203 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:27445000-27486200	Weak transcription	Fetal Heart	heart
2	chr10:27445400-27490800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr10:27445600-27470800	Weak transcription	Psoas Muscle	Psoas
4	chr10:27446400-27476200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
5	chr10:27446400-27476400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr10:27446400-27490800	Weak transcription	Fetal Brain Male	brain
7	chr10:27446400-27499200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr10:27446400-27508400	Weak transcription	Small Intestine	intestine
9	chr10:27446600-27476000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
10	chr10:27446600-27477200	Strong transcription	HUES48 Cell Line	embryonic stem cell
11	chr10:27447000-27476600	Strong transcription	HUES6 Cell Line	embryonic stem cell
12	chr10:27447000-27477000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr10:27447000-27477800	Strong transcription	HUES64 Cell Line	embryonic stem cell
14	chr10:27447200-27476200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr10:27447200-27476600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr10:27447200-27478000	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr10:27447200-27478200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr10:27447400-27476600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr10:27447400-27477200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr10:27447400-27478200	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr10:27448200-27476000	Strong transcription	Dnd41	blood
22	chr10:27449400-27472800	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr10:27449600-27487200	Weak transcription	Colon Smooth Muscle	Colon
24	chr10:27450200-27470600	Strong transcription	A549	lung
25	chr10:27452400-27467200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
26	chr10:27453000-27487000	Weak transcription	Spleen	Spleen
27	chr10:27454800-27469000	Weak transcription	Gastric	stomach
28	chr10:27454800-27473000	Weak transcription	Brain Anterior Caudate	brain
29	chr10:27454800-27473800	Weak transcription	Brain Cingulate Gyrus	brain
30	chr10:27454800-27481200	Weak transcription	Brain Substantia Nigra	brain
31	chr10:27454800-27487000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr10:27455000-27478400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr10:27455000-27494600	Weak transcription	Aorta	Aorta
34	chr10:27455000-27495200	Weak transcription	Right Ventricle	heart
35	chr10:27455200-27466000	Weak transcription	Fetal Kidney	kidney
36	chr10:27455200-27472600	Weak transcription	Brain Hippocampus Middle	brain
37	chr10:27455200-27473600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr10:27455200-27475000	Weak transcription	Rectal Smooth Muscle	rectum
39	chr10:27455400-27492200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr10:27455600-27494600	Weak transcription	Pancreas	Pancrea
41	chr10:27455800-27472000	Weak transcription	Brain Germinal Matrix	brain
42	chr10:27455800-27485200	Weak transcription	Colonic Mucosa	Colon
43	chr10:27456200-27465800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr10:27456200-27465800	Weak transcription	Left Ventricle	heart
45	chr10:27456200-27466400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr10:27456200-27472800	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr10:27456200-27473800	Weak transcription	Ovary	ovary
48	chr10:27456200-27484200	Weak transcription	Primary hematopoietic stem cells	blood
49	chr10:27456200-27484800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr10:27456200-27490800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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