Variant report

Variant	nsv971907
Chromosome Location	chr10:43435400-43449867
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:7)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:43436378..43438483-chr10:43446013..43449214,3	MCF-7	breast:
2	chr10:43428250..43429844-chr10:43434863..43436862,2	K562	blood:
3	chr10:43448104..43449836-chr10:43453416..43456002,2	MCF-7	breast:
4	chr10:43426456..43429844-chr10:43434614..43436862,3	K562	blood:
5	chr10:43442278..43444933-chr10:43480874..43482921,2	K562	blood:
6	chr10:43364725..43366400-chr10:43449208..43451181,2	MCF-7	breast:
7	chr10:43436378..43438483-chr10:43446013..43449214,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RET-3	chr10:43444271-43444432	ucscGeneNc_uc001jba_2

No data

Extended variants
information (count: 278 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:278 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs142130618	chr10:43435420-43435421	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs2506027	chr10:43435421-43435422	Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs150751645	chr10:43435423-43435424	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs552081533	chr10:43435427-43435428	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs114094027	chr10:43435432-43435433	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs788267	chr10:43435438-43435439	Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs550152175	chr10:43435441-43435442	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs59708452	chr10:43435468-43435469	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs535966435	chr10:43435493-43435494	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs12569973	chr10:43435562-43435563	Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs370192970	chr10:43435578-43435579	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs572548693	chr10:43435588-43435589	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs116184238	chr10:43435605-43435606	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs788266	chr10:43435628-43435629	Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs576680607	chr10:43435665-43435666	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs61843441	chr10:43435672-43435673	Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs544365447	chr10:43435693-43435694	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs562160287	chr10:43435702-43435703	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs139069168	chr10:43435716-43435717	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs191184553	chr10:43435739-43435740	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs559863713	chr10:43435790-43435791	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs527384355	chr10:43435821-43435822	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs552356965	chr10:43435838-43435839	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs372874128	chr10:43435854-43435855	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs564079042	chr10:43435936-43435937	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs531655612	chr10:43435990-43435991	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs549770466	chr10:43436012-43436013	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs368725090	chr10:43436072-43436073	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs1775098	chr10:43436096-43436097	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs547804401	chr10:43436120-43436121	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs114377184	chr10:43436121-43436122	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs539504960	chr10:43436145-43436146	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs558356133	chr10:43436154-43436155	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs7908435	chr10:43436155-43436156	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs537636857	chr10:43436168-43436169	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs373712600	chr10:43436169-43436170	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs111444186	chr10:43436171-43436172	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs142425620	chr10:43436201-43436202	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs371377780	chr10:43436214-43436215	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs573993356	chr10:43436257-43436258	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs541463799	chr10:43436337-43436338	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs559678637	chr10:43436347-43436348	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs145246418	chr10:43436370-43436371	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs78486922	chr10:43436390-43436391	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs564318390	chr10:43436394-43436395	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs181976540	chr10:43436398-43436399	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs112571236	chr10:43436399-43436400	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs538946186	chr10:43436425-43436426	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs562007147	chr10:43436428-43436429	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs529163416	chr10:43436437-43436438	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Pancreatic endocrine tumor	17639061	CNVD
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
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	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
Esophageal cancer	21851588	CNVD
Prostate cancer	18632612	CNVD
Autism	18414403	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
Mental retardation	21062444	CNVD
Cancer	21183584	CNVD
T-cell lymphomas	19863542	CNVD
Testicular germ cell tumor	18059402	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
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	22241247	CNVD
Intellectual disability	21811512	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Obesity	21956041	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21948486	CNVD
Dysmorphic features	21948486	CNVD
Epilepsy	21948486	CNVD
Breast cancer	21509527	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:198 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:43430000-43436000	Weak transcription	Pancreas	Pancrea
2	chr10:43430400-43436000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr10:43430400-43436000	Weak transcription	Spleen	Spleen
4	chr10:43434400-43435400	Enhancers	Fetal Muscle Leg	muscle
5	chr10:43435000-43436600	Weak transcription	Gastric	stomach
6	chr10:43435000-43436800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
7	chr10:43436000-43436400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr10:43436000-43436400	Enhancers	Spleen	Spleen
9	chr10:43436000-43436600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr10:43436000-43436800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr10:43436000-43436800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr10:43436000-43437000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr10:43436000-43437400	Enhancers	Pancreas	Pancrea
14	chr10:43436200-43436800	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr10:43436400-43436800	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr10:43436400-43437000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
17	chr10:43436600-43436800	Bivalent Enhancer	Fetal Stomach	stomach
18	chr10:43436600-43437400	Enhancers	Fetal Lung	lung
19	chr10:43436600-43437600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr10:43436600-43437600	Enhancers	Gastric	stomach
21	chr10:43437600-43437800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr10:43438000-43438200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
23	chr10:43446000-43446800	Bivalent Enhancer	Fetal Stomach	stomach
24	chr10:43446000-43447600	Enhancers	Fetal Lung	lung
25	chr10:43446200-43446600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr10:43446200-43447200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr10:43446200-43448000	Bivalent Enhancer	Fetal Muscle Leg	muscle
28	chr10:43446400-43446800	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
29	chr10:43446400-43446800	Bivalent Enhancer	Brain Germinal Matrix	brain
30	chr10:43446400-43446800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
31	chr10:43446400-43447400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
32	chr10:43446400-43448000	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr10:43446600-43446800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
34	chr10:43446600-43446800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr10:43446600-43446800	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr10:43446600-43446800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr10:43446600-43446800	Bivalent Enhancer	Adipose Nuclei	Adipose
38	chr10:43446600-43446800	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
39	chr10:43446600-43447000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr10:43446600-43447000	Bivalent Enhancer	Colon Smooth Muscle	Colon
41	chr10:43446600-43447000	Enhancers	Pancreas	Pancrea
42	chr10:43446600-43447200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr10:43446600-43447200	Enhancers	Primary hematopoietic stem cells	blood
44	chr10:43446600-43447200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr10:43446600-43447400	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
46	chr10:43446600-43447400	Bivalent Enhancer	Duodenum Mucosa	Duodenum
47	chr10:43446600-43447600	Bivalent Enhancer	Fetal Brain Male	brain
48	chr10:43446600-43447600	Bivalent Enhancer	Placenta	Placenta
49	chr10:43446600-43447600	Enhancers	Ovary	ovary
50	chr10:43446600-43447800	Enhancers	Fetal Heart	heart

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