Variant report

Variant	esv2511732
Chromosome Location	chr10:22142345-22143857
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	chr10:22138913..22141052-chr10:22142193..22144876,2	K562	blood:
2	chr10:22141650..22143446-chr10:22149762..22151313,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000136770	chromatin interactions

Extended variants
information (count: 57 )
Associated
traits (count: 42 )

Variant overlapped rSNPs/rCNVs (count:57 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552328993	chr10:22142365-22142366	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs569568162	chr10:22142366-22142367	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs114185524	chr10:22142421-22142422	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs556963113	chr10:22142428-22142429	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs374722344	chr10:22142429-22142430	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs573558324	chr10:22142451-22142452	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs149235865	chr10:22142452-22142453	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs191047798	chr10:22142469-22142470	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs12770591	chr10:22142505-22142506	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs182770927	chr10:22142566-22142567	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs556059065	chr10:22142585-22142586	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs572948070	chr10:22142597-22142598	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs545253118	chr10:22142609-22142610	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs187839632	chr10:22142610-22142611	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs147384282	chr10:22142681-22142682	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs12359915	chr10:22142714-22142715	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs201230988	chr10:22142746-22142747	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs575536424	chr10:22142752-22142753	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs574142760	chr10:22142774-22142775	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs192774058	chr10:22142813-22142814	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs139587742	chr10:22142845-22142846	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs530048599	chr10:22142864-22142865	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs114717030	chr10:22142883-22142884	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs143506322	chr10:22142884-22142885	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs532453756	chr10:22142894-22142895	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs556199321	chr10:22142925-22142926	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs577731645	chr10:22142977-22142978	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs369892510	chr10:22143010-22143011	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs552392705	chr10:22143014-22143015	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs544975763	chr10:22143019-22143020	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs59642781	chr10:22143056-22143057	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs12777510	chr10:22143101-22143102	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs373822602	chr10:22143109-22143110	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs538388940	chr10:22143117-22143118	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs548610828	chr10:22143140-22143141	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs147202704	chr10:22143215-22143216	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs560267097	chr10:22143224-22143225	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs148663117	chr10:22143246-22143247	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs56109403	chr10:22143280-22143281	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs74513857	chr10:22143301-22143302	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs182455084	chr10:22143317-22143318	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs187458321	chr10:22143337-22143338	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs142220625	chr10:22143366-22143367	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs561280177	chr10:22143372-22143373	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs79692176	chr10:22143390-22143391	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs544358078	chr10:22143398-22143399	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs561044865	chr10:22143418-22143419	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs574366222	chr10:22143468-22143469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs540263681	chr10:22143535-22143536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs560104822	chr10:22143572-22143573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:42)

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
Acute lymphoblastic leukemia	22237106	CNVD
Intracranial aneurysm	16715129	CNVD
Multiple myeloma	16616336	CNVD
T-cell lymphomas	19863542	CNVD
Esophageal cancer	21851588	CNVD
small cell lung cancer	20016488	CNVD
Olfactory neuroblastoma	18408657	CNVD
Breast cancer	21364760	CNVD
Glioblastoma multiforme	21525872	CNVD
Prostate cancer	18632612	CNVD
Cancer	17699850	CNVD
Ovarian cancer	17699850	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:22124200-22169800	Weak transcription	Right Ventricle	heart
2	chr10:22124400-22163000	Weak transcription	Ovary	ovary
3	chr10:22126200-22161800	Weak transcription	Left Ventricle	heart
4	chr10:22126600-22151000	Weak transcription	Fetal Stomach	stomach
5	chr10:22126600-22161800	Weak transcription	Pancreas	Pancrea
6	chr10:22133000-22157800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr10:22133400-22161000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr10:22137600-22159400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr10:22138000-22161400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr10:22139000-22161200	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr10:22139200-22161200	Weak transcription	Fetal Lung	lung
12	chr10:22139600-22149800	Weak transcription	NHEK	skin
13	chr10:22139800-22149800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr10:22140000-22159800	Weak transcription	Stomach Smooth Muscle	stomach
15	chr10:22140600-22144000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr10:22140600-22149800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr10:22140600-22159400	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr10:22140600-22159600	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr10:22140800-22146400	Weak transcription	Adipose Nuclei	Adipose
20	chr10:22140800-22156400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr10:22140800-22169800	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr10:22140800-22174800	Weak transcription	HSMM	muscle
23	chr10:22141600-22157400	Weak transcription	Primary hematopoietic stem cells	blood
24	chr10:22142200-22146000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr10:22142200-22161200	Weak transcription	Primary T helper cells fromperipheralblood	blood

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