Variant report

Variant	nsv982870
Chromosome Location	chr10:22770802-22778774
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:22775061..22779403-chr10:22779894..22783852,4	MCF-7	breast:
2	chr10:22764922..22767473-chr10:22775286..22777251,2	MCF-7	breast:
3	chr10:22770542..22773013-chr10:22776125..22778217,2	K562	blood:
4	chr10:22773325..22774951-chr10:22776646..22779333,3	MCF-7	breast:
5	chr10:22763614..22767243-chr10:22769370..22771650,4	K562	blood:
6	chr10:22767991..22769793-chr10:22771097..22773588,2	MCF-7	breast:
7	chr10:22628736..22631395-chr10:22777153..22780149,2	MCF-7	breast:
8	chr10:22580175..22583000-chr10:22768867..22771369,2	MCF-7	breast:
9	chr10:22517101..22519914-chr10:22768454..22771080,2	K562	blood:
10	chr10:22770542..22773013-chr10:22776125..22778217,2	K562	blood:
11	chr10:22773325..22774951-chr10:22776646..22779333,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000272366	chromatin interactions

Extended variants
information (count: 309 )
Associated
traits (count: 36 )

Variant overlapped rSNPs/rCNVs (count:309 , 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	rs531816173	chr10:22770802-22770803	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs187878046	chr10:22770918-22770919	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs533123512	chr10:22771073-22771074	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs568460582	chr10:22771101-22771102	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs551506851	chr10:22771130-22771131	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs76887749	chr10:22771147-22771148	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs571060838	chr10:22771159-22771160	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs539618124	chr10:22771175-22771176	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs75913659	chr10:22771223-22771224	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs148556798	chr10:22771232-22771233	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs537927487	chr10:22771245-22771246	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs192490804	chr10:22771251-22771252	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs574087817	chr10:22771334-22771335	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs377695819	chr10:22771445-22771446	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs114089636	chr10:22771458-22771459	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs368976776	chr10:22771486-22771487	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs553619925	chr10:22771491-22771492	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs576981171	chr10:22771515-22771516	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs11013020	chr10:22771516-22771517	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs555531847	chr10:22771517-22771518	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs370983878	chr10:22771543-22771544	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs545714486	chr10:22771600-22771601	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs115224665	chr10:22771609-22771610	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs531757742	chr10:22771628-22771629	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs542298227	chr10:22771649-22771650	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs11013021	chr10:22771680-22771681	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs376008247	chr10:22771700-22771701	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs562075109	chr10:22771764-22771765	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs11013022	chr10:22771770-22771771	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs184521570	chr10:22771795-22771796	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs548131444	chr10:22771797-22771798	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs537921018	chr10:22771810-22771811	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs35779176	chr10:22771821-22771822	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs71472823	chr10:22771852-22771853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs71393997	chr10:22771853-22771854	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs148794293	chr10:22771896-22771897	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs71491924	chr10:22771930-22771931	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs187723815	chr10:22771952-22771953	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs375867042	chr10:22771955-22771956	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs7095276	chr10:22772016-22772017	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs192717024	chr10:22772071-22772072	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs58402183	chr10:22772115-22772116	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs572062936	chr10:22772135-22772136	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs537585397	chr10:22772140-22772141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs78455224	chr10:22772150-22772151	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs71491925	chr10:22772151-22772152	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs547832914	chr10:22772209-22772210	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs577832918	chr10:22772254-22772255	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs73598538	chr10:22772267-22772268	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs61377954	chr10:22772283-22772284	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:36)

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
T-cell lymphomas	19863542	CNVD
Esophageal cancer	21851588	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Behavioral abnormalities	21522184	CNVD
Dysmorphic features	21522184	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:22765800-22806600	Weak transcription	Right Atrium	heart
2	chr10:22767600-22771600	Enhancers	Brain Substantia Nigra	brain
3	chr10:22768200-22771600	Enhancers	Brain Inferior Temporal Lobe	brain
4	chr10:22768600-22771400	Weak transcription	Psoas Muscle	Psoas
5	chr10:22768800-22771000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr10:22769000-22771400	Enhancers	Brain Cingulate Gyrus	brain
7	chr10:22769000-22771600	Enhancers	Brain Hippocampus Middle	brain
8	chr10:22769600-22771000	Weak transcription	K562	blood
9	chr10:22770600-22771000	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr10:22770600-22771000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
11	chr10:22770600-22771000	Enhancers	Brain Angular Gyrus	brain
12	chr10:22770600-22771200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
13	chr10:22770600-22771600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
14	chr10:22770600-22771600	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr10:22770600-22771600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr10:22770600-22771600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr10:22770600-22771600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr10:22770600-22771600	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr10:22770600-22771800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
20	chr10:22770800-22771000	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
21	chr10:22770800-22771200	Enhancers	Placenta Amnion	Placenta Amnion
22	chr10:22770800-22771400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr10:22770800-22771400	Bivalent Enhancer	HUVEC	blood vessel
24	chr10:22770800-22771600	Enhancers	H9 Cell Line	embryonic stem cell
25	chr10:22770800-22771600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
26	chr10:22770800-22771600	Enhancers	Muscle Satellite Cultured Cells	--
27	chr10:22770800-22771600	Enhancers	Brain Anterior Caudate	brain
28	chr10:22770800-22771600	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr10:22770800-22771600	Enhancers	Hela-S3	cervix
30	chr10:22770800-22771600	Enhancers	HSMMtube	muscle
31	chr10:22771000-22771200	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr10:22771000-22771200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
33	chr10:22771000-22771400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
34	chr10:22771000-22771400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr10:22771000-22771600	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr10:22771000-22771600	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
37	chr10:22771000-22771600	Enhancers	A549	lung
38	chr10:22771000-22771600	Enhancers	HSMM	muscle
39	chr10:22771000-22771600	Enhancers	K562	blood
40	chr10:22771000-22771600	Enhancers	Osteobl	bone
41	chr10:22771000-22771800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr10:22771000-22771800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr10:22771000-22771800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr10:22771000-22772200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr10:22771000-22772200	Enhancers	GM12878-XiMat	blood
46	chr10:22771000-22780200	Weak transcription	Brain Angular Gyrus	brain
47	chr10:22771200-22771400	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr10:22771200-22771400	Enhancers	Primary hematopoietic stem cells short term culture	blood
49	chr10:22771200-22771600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
50	chr10:22771200-22772000	Enhancers	Stomach Mucosa	stomach

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